Berge Minassian, M.D.

Berge Minassian, M.D.

Chief, Division of Pediatric Neurology

  • Jimmy Elizabeth Westcott Distinguished Chair in Pediatric Neurology
  • Neurology
  • Pediatric Neurology

Biography

Berge A. Minassian, M.D., is a Professor in the Departments of Pediatrics and Neurology at UT Southwestern Medical Center.

Dr. Minassian is a pediatric neurologist whose clinical specialties are epilepsy, neurodegenerative diseases, and neurogenetic conditions.

The Chief of Child Neurology at UT Southwestern, he also leads the Neurosciences Center at Children’s Health in Dallas. He serves on the faculty of the Children's Medical Center Research Institute at UT Southwestern, as well.

Dr. Minassian has been active in neurogenetics research for his entire career. Two of his primary interests have been Lafora disease, for which his lab discovered the genes, and adult polyglucosan body disease.

He has published more than 120 scholarly articles and authored or contributed to 10 books.

Dr. Minassian is a Fellow (Neurology) of the Royal College of Physicians and Surgeons of Canada and a founding member of the American Academy of Neurology’s Neurogenetics Section.

Prior to joining the UT Southwestern faculty in 2016, he was a Professor of Neurology at the University of Toronto, a pediatric neurologist at Toronto’s Hospital for Sick Children, and a senior scientist in genetics and genome biology at the Hospital for Sick Children Research Institute.

Dr. Minassian earned his medical degree at McGill University Faculty of Medicine and performed a residency in adult neurology at the Veterans Administration West Los Angeles Medical Center.

He then completed a clinical fellowship in pediatric neurology and epileptology, as well as postdoctoral research fellowships in both molecular genetics and molecular neurogenetics at the University of Toronto’s Hospital for Sick Children.

Dr. Minassian’s many professional honors include the Jacob's Ladder 2014 Norman Saunders International Research Prize for Outstanding Scientist, the American Academy of Neurology 2007 Dreifuss-Penry Epilepsy Award, the Canadian Paediatric Society 2008 Sanofi Pasteur Research Award, and the American Epilepsy Society 1996 Young Investigator Award.

Meet Dr. Minassian

Pediatric Neurologist Specializing in Epilepsy in Dallas

Pediatric neurologist Dr. Berge Minassian has special expertise in caring for patients with epilepsy, neurodegenerative diseases, and neurogenetic conditions.

A physician-scientist, Dr. Minassian has spent much of his 20 years of research seeking the underlying genetic causes of epilepsy. He works closely with Children's Medical Center Research Institute at UT Southwestern.

“I’ve been working to piece together the brain’s genetic underpinnings – to help us better understand both how the brain works overall and how faulty genes can lead to electrical problems in the brain in conditions such as epilepsy,” he says.

Board certified and fellowship trained, Dr. Minassian serves as Chief of Pediatric Neurology at UT Southwestern Medical Center and leads the Neurosciences Center at Children’s Health in Dallas.

“One of the main reasons I came to UT Southwestern was to develop a gene therapy program aimed at curing various types of epilepsy,” he says. “I really want to help make a fundamental difference in families’ lives by altogether eliminating the problem in as many cases as we can.”

He also serves on the faculty of the Children’s Health Epilepsy Center, which he notes is “one of the top centers of its kind in the country, if not the world. Everyone who works here does a fantastic job of caring for our patients.”

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  • Internship - University of Toronto Hospitals, Canada (1992-1993), Internal Medicine
  • Fellowship - University of Toronto, the Hospital for Sick Children (1997-1998), Neurogenetics
  • Fellowship - University of Toronto, the Hospital for Sick Children (1996-1997), Pediatric Neurology
  • Residency - West Los Angeles VA Medical Center (1993-1996), Neurology
  • Medical School - McGill University Faculty of Medicine (1988-1992)
  • Royal College of Physicians and Surgeons Canada
  • Ontario Medical Association
  • College of Physicians and Surgeons of Ontario
  • Canadian Medical Association
  • American Academy of Neurology, Neurogenetics Section - Founding Member
  • American Academy of Neurology
  • Gertrude and Charles Clark Cancer Research Fellow 1987, Jewish General Hospital, McGill University
  • Young Investigator Award 1996, American Epilepsy Society
  • Certificate of Appreciation 1995-1998, Canadian Angleman Syndrome Society
  • Ted Hall Award, Best Biology Paper 2005, Microscopy Society of America, Annual Meeting
  • John Stobo Prichard Award 2006, International Child Neurology Association
  • Canada Research Chair in Pediatric Neurogenetics 2006
  • Dreifuss-Penry Epilepsy Award 2007, American Academy of Neurology, for Independent contribution to epilepsy research
  • Canadian Paediatric Society Sanofi Pasteur Research Award 2008, For excellence in Canadian child health research
  • Benjamin Boshes Memorial Lectureship, Keynote Speaker 2011, Israeli Neurological Association Annual Meeting
  • Leadership Award in E-Infrastructure 2013, Ontario Research and Innovation Optical Network (ORION), in recognition of outstanding leadership in research and innovation in Ontario
  • Jacob's Ladder International Research Prize for Outstanding Scientist 2014, Norman Saunders
  • D Magazine Best Pediatric Specialist 2021
  • Books
    • The history of progressive myoclonus epilepsies in Progressive Myoclonus Epilepsies: State-of-the-Art
      Genton P, Striano P, Minassian BA (2017), Montrouge, France, John Libbey Eurotext
    • Neuronal ceroid lipofuscinoses in Minassian BA, Striano P, Avanzini G, eds. Progressive Myoclonus Epilepsies: State-of-the-Art.
      Nita DA, Mole SE, Minassian BA. (2017), Montrouge, France: John Libbey Eurotext; 93-114.
    • Progressive Myoclonus Epilepsy with Polyglucosan Bodies - Lafora's Disease in Fahn S, Frucht SJ, Hallett M, Truong DD, eds. Advances in Neurology. Vol. 89: Myoclonus and Paroxysmal Dyskinesias.
      Minassian BA. (2002), Lippincott Williams & Wilkins; 199-210.
    • Lafora disease in Minassian BA, Striano P, Avanzini G, eds. Progressive Myoclonus Epilepsies: State-of-the-Art.
      Turnbull J, Striano P, Genton P, Carpenter S, Ackerley CA, Minassian BA. (2017), Montrouge, France: John Libbey Eurotext; 49-78.
    • Progressive Myoclonus Epilepsies: State-of-the-Art.
      Minassian BA, Striano P, Avanzini G. (2017), Montrouge, France: John Libbey Eurotext.
    • X-linked Myopathy with Excessive Autophagy in Karpati D, ed. Structural and Molecular Basis of Skeletal Muscle Diseases.
      Minassian BA, Levy N. (2002), ISN Neuropath Press; 145-147.
    • Progressive myoclonus epilepsy in Dulac O, Lassonde M, Sarnat HB, eds. Handbook of Clinical Neurology: Pediatric Neurology Part III. Vol. 113.
      Girard JM, Turnbull J, Ramachandran N, Minassian BA. (2013), Elsevier; 1731-1736.
    • Neuronal ceroid lipofuscinoses in Dulac O, Lassonde M, Sarnat HB, eds. Handbook of Clinical Neurology: Pediatric Neurology Part III. Vol. 113.
      Chabrol B, Caillaud C, Minassian BA. (2013), Elsevier; 1701-1706.
    • Post-modern therapeutic approaches for progressive myoclonus epilepsy in Minassian BA, Striano P, Avanzini G, eds. Progressive Myoclonus Epilepsies: State-of-the-Art.
      Minassian BA. (2017), Montrouge, France: John Libbey Eurotext; 199-204.
    • The history of progressive myoclonus epilepsies in Minassian BA, Striano P, Avanzini G, eds. Progressive Myoclonus Epilepsies: State-of-the-Art.
      Genton P, Striano P, Minassian BA. (2017), Montrouge, France: John Libbey Eurotext; 1-10.
    • On the Road to Tractability: The Current Biochemical Understanding of Progressive Myoclonus Epilepsies in Blume WT, Carlen PL, Starrveld E, Wiebe S, Young GB, eds. Advances in Neurology. Vol. 97: Intractable Epilepsies.
      Lohi H, Chan EM, Scherer SW, Minassian BA. (2005), Lippincott Williams & Wilkins; 399-415.
    • Unverricht-Lundborg Disease in Chapman K, Rho JM, eds. Pediatric Epilepsy Case Studies: From Infancy and Childhood through Adolescence.
      Andrade DM, Minassian BA. (2008), CRC Press; 251-256.
    • Autosomal Recessive Progressive Myoclonus Epilepsy in Avanzini G, Noebels J, eds. Genetics of Epilepsy and Genetic Epilepsies.
      Girard JM, Ramachandran N, Turnbull J, Minassian BA. (2009), John Libbey Eurotext; 229-246.
    • Progressive Myoclonus Epilepsy of Lafora in Noebels JL, Avoli M, Rogawski MA, Olsen RW, Delgado-Escueta AV, eds. Jasper's Basic Mechanisms of the Epilepsies. 4th ed.
      Serratosa JM, Minassian BA, Ganesh S. (2012), Oxford University Press; 874-877.
    • Imprinting and Angelman Syndrome in Delgado-Escueta AV, Wilson WA, Olsen RW, Porter RJ, eds. Jasper's Basic Mechanisms of the Epilepsies. 3rd ed. Advances in Neurology, vol. 79.
      Lalande M, Minassian BA, DeLorey TM, Olsen RW. (1999), Raven Press; 421-429.
    • The progressive myoclonus epilepsies in Steinlein O, ed. Progress in Brain Research. Vol. 213.
      Minassian BA. (2014), Elsevier; 113-122.
  • Publications
    • Lafora disease gene therapy: EPM2A but not EPM2B overexpression results in Lafora body formation
      Alao EO, Sheibani M, Wu J, Marriam U, Evans D, Kasiri S, Verma M, Nitschke S, Nitschke F, Gray SJ, Mitra S, Minassian BA Neurotherapeutics 2026 Mar 23
    • First-in-human high dose AAV9 intrathecal gene therapy for paediatric CLN7 disease: a phase 1, open-label, single ascending dose, non-randomised clinical trial
      Greenberg BM, Minassian B, Messahel S, Edgar VB, Lowden A, Dahshi H, Nettesheim ER, Nguyen HH, Hughes S, Muthukumar AR, Srinivasan K, Iannaccone S, Varadarajan G, Gray SJ, Kayani SN EBioMedicine 2026 Jan 123
    • CUL1 variants cause severe neurodevelopmental disorders: Insights from human genetics and a zebrafish model of microcephaly
      Xu H, Liu Z, Hamdan FF, Wu S, He M, Wang D, Pan H, Hu J, Chen Y, Michaud JL, Minassian BA, Duan J, Liao J, Su J, Hu S, Peng Y, Ye Q, Chen L Human Genetics and Genomics Advances 2026 Jan 7
    • Neurofilament Light Chain as a Biomarker of Disease Progression in Lafora Disease
      Muccioli L, Ganceviciute B, Becker F, Minardi R, Tappatà M, Bachhuber F, Alkhatib M, Cirak S, Weishaupt J, Verma M, Tumani H, Wagner J, Messahel S, Nitschke F, Minassian BA, Bisulli F, Brenner D Neurology: Genetics 2025 Dec 11 e200319
    • The 9th annual Lafora science symposium: a rare epilepsy community makes progress towards clinical readiness
      Williams MI, Donohue KJ, Sanz P, Messahel S, Serratosa JM, Duran J, Michelucci R, Muccioli L, Delgado-Escueta A, Nguyen VH, Minassian BA, Gentry MS Epilepsy and Behavior 2025 Oct 171
    • Sleep architecture and qEEG patterns in PME type 1 diagnosis
      Pophal E, Taha M, Doll E, Nordli DR, Minassian B, Nordli DR Epileptic Disorders 2025 Oct 27 1032-1037
    • Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies
      Fogel BL, Klopstock T, Lynch DR, Maltecca F, Verma M, Minassian BA, Platt FM, Gonçalves DF, Puccio H, Roos A, Synofzik M Annals of Neurology 2025 Sep 98 448-470
    • Targeting the trunk of multi-root common epilepsy with gene therapy
      Sheibani M, Minassian BA Molecular Therapy Methods and Clinical Development 2025 Jun 33
    • Lithium exacerbates Lafora body formation in the Epm2a-/- Lafora disease mouse model
      Wu J, Lynn TC, Nitschke S, Mitra S, Minassian BA Neuroscience letters 2025 May 856-858
    • Focused ultrasound widely broadens AAV-delivered Cas9 distribution and activity
      Gumusgoz E, Kasiri S, Youssef I, Verma M, Chopra R, Villarreal Acha D, Wu J, Marriam U, Alao E, Chen X, Guisso DR, Gray SJ, Shah BR, Minassian BA Gene Therapy 2025 May 32 237-245
    • SURF1 Deficiency: Expanding on Disease Phenotype and Assessing Disease Burden by Describing Clinical and Biochemical Phenotype
      Kayani S, Daescu V, Dahshi H, Messahel S, Woleban K, Minassian BA, Ling Q, Gray SJ American Journal of Medical Genetics, Part A 2025 Apr 197
    • Glycogen synthase GYS1 overactivation contributes to glycogen insolubility and malto-oligoglucan-associated neurodegenerative disease
      Nitschke S, Montalbano AP, Whiting ME, Smith BH, Mukherjee-Roy N, Marchioni CR, Sullivan MA, Zhao X, Wang P, Mount H, Verma M, Minassian BA, Nitschke F EMBO Journal 2025 Mar 44 1379-1413
    • Neuronal ceroid lipofuscinoses type 7 (CLN7): a case series reporting cross sectional and retrospective clinical data to evaluate validity of standardized tools to assess disease progression, quality of life, and adaptive skills
      Kayani S, BordesEdgar V, Lowden A, Nettesheim ER, Dahshi H, Messahel S, Minassian BA, Greenberg BM Orphanet Journal of Rare Diseases 2024 Dec 19
    • GDE5/Gpcpd1 activity determines phosphatidylcholine composition in skeletal muscle and regulates contractile force in mice
      Aisyah R, Ohshima N, Watanabe D, Nakagawa Y, Sakuma T, Nitschke F, Nakamura M, Sato K, Nakahata K, Yokoyama C, Marchioni CR, Kumrungsee T, Shimizu T, Sotomaru Y, Takeo T, Nakagata N, Izumi T, Miura S, Minassian BA, Yamamoto T, Wada M, Yanaka N Communications Biology 2024 Dec 7
    • Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy
      Author Collaboration UD, Banks E, Francis V, Lin SJ, Kharfallah F, Fonov V, Lévesque M, Han C, Kulasekaran G, Tuznik M, Bayati A, Al-Khater R, Alkuraya FS, Argyriou L, Babaei M, Bahlo M, Bakhshoodeh B, Barr E, Bartik L, Bassiony M, Bertrand M, Braun D, Buchert R, Budetta M, Cadieux-Dion M, Calame DG, Cope H, Cushing D, Efthymiou S, Elmaksoud MA, El Said HG, Froukh T, Gill HK, Gleeson JG, Gogoll L, Goh ES, Gowda VK, Haack TB, Hashem MO, Hauser S, Hoffman TL, Hogue JS, Hosokawa A, Houlden H, Huang K, Huynh S, Karimiani EG, Kaulfuß S, Korenke GC, Kritzer A, Minassian BA Nature communications 2024 Dec 15
    • AAV gene therapy for hereditary spastic paraplegia type 50: a phase 1 trial in a single patient
      Dowling JJ, Pirovolakis T, Devakandan K, Stosic A, Pidsadny M, Nigro E, Sahin M, Ebrahimi-Fakhari D, Messahel S, Varadarajan G, Greenberg BM, Chen X, Minassian BA, Cohn R, Bonnemann CG, Gray SJ Nature medicine 2024 Jul 30 1882-1887
    • Clinicopathologic Dissociation: Robust Lafora Body Accumulation in Malin KO Mice Without Observable Changes in Home-Cage Behavior
      Krishnan V, Wu J, Mazumder AG, Kamen JL, Schirmer C, Adhyapak N, Bass JS, Lee SC, Maheshwari A, Molinaro G, Gibson JR, Huber KM, Minassian BA Journal of Comparative Neurology 2024 Jul 532
    • Myofiber-type-dependent ‘boulder’ or ‘multitudinous pebble’ formations across distinct amylopectinoses
      Mitra S, Chen B, Shelton JM, Nitschke S, Wu J, Covington L, Dear M, Lynn T, Verma M, Nitschke F, Fuseya Y, Iwai K, Evers BM, Minassian BA Acta Neuropathologica 2024 Jun 147
    • CSTB gene replacement improves neuroinflammation, neurodegeneration and ataxia in murine type 1 progressive myoclonus epilepsy
      Gumusgoz E, Kasiri S, Verma M, Wu J, Villarreal Acha D, Marriam U, Fyffe-Maricich S, Lin A, Chen X, Gray SJ, Minassian BA Gene Therapy 2024 May 31 234-241
    • Mitochondrial encephalopathies and myopathies: Our tertiary center's experience
      Ozlu C, Messahel S, Minassian B, Kayani S European Journal of Paediatric Neurology 2024 May 50 31-40
    • Amylopectinosis of the fatal epilepsy Lafora disease resists autophagic glycogen catabolism
      Wu J, Kakhlon O, Weil M, Lossos A, Minassian BA EMBO Molecular Medicine 2024 May 16 1047-1050
    • KCTD7-related progressive myoclonic epilepsy: Report of 42 cases and review of literature
      Yoganathan S, Whitney R, Thomas M, Danda S, Chettali AM, Prasad AN, Farhan SM, AlSowat D, Abukhaled M, Aldhalaan H, Gowda VK, Kinhal U, Bylappa AY, Konanki R, Lingappa L, Parchuri B, Appendino JP, Scantlebury MH, Cunningham J, Hadjinicolaou A, El Achkar CM, Kamate M, Menon RN, Jose M, Riordan G, Kannan L, Jain V, Manokaran RK, Chau V, Donner EJ, Costain G, Minassian BA, Jain P Epilepsia 2024 Mar 65 709-724
    • Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances
      Zimmern V, Minassian B Genes 2024 Feb 15
    • 1H and 31P magnetic resonance spectroscopy reveals potential pathogenic and biomarker metabolite alterations in Lafora disease
      Chan KL, Panatpur A, Messahel S, Dahshi H, Johnson T, Henning A, Ren J, Minassian BA Brain Communications 2024 6
    • Gys1 Antisense Therapy Prevents Disease-Driving Aggregates and Epileptiform Discharges in a Lafora Disease Mouse Model
      Donohue KJ, Fitzsimmons B, Bruntz RC, Markussen KH, Young LE, Clarke HA, Coburn PT, Griffith LE, Sanders W, Klier J, Burke SN, Maurer AP, Minassian BA, Sun RC, Kordasiewisz HB, Gentry MS Neurotherapeutics 2023 Oct 20 1808-1819
    • Unraveling the role of non-coding rare variants in epilepsy
      Girard A, Moreau C, Michaud JL, Minassian B, Cossette P, Girard SL PloS one 2023 Sep 18
    • Unverricht-Lundborg disease
      Verma M, Minassian BA, Andrade DM 2023 Jun 375-381
    • Retinal Phenotyping of a Murine Model of Lafora Disease
      Vincent A, Ahmed K, Hussein R, Berberovic Z, Tumber A, Zhao X, Minassian BA Genes 2023 Apr 14
    • Natural History of SURF1 Deficiency: A Retrospective Chart Review
      Khan TR, Leprince I, Messahel S, Minassian BA, Kayani S Pediatric Neurology 2023 Mar 140 40-46
    • Laforin targets malin to glycogen in Lafora progressive myoclonus epilepsy
      Mitra S, Chen B, Wang P, Chown EE, Dear M, Guisso DR, Mariam U, Wu J, Gumusgoz E, Minassian BA DMM Disease Models and Mechanisms 2023 Jan 16
    • SLC13A5 Deficiency Disorder: From Genetics to Gene Therapy
      Goodspeed K, Liu JS, Nye KL, Prasad S, Sadhu C, Tavakkoli F, Bilder DA, Minassian BA, Bailey RM Genes 2022 Sep 13
    • Glycogen synthase downregulation rescues the amylopectinosis of murine RBCK1 deficiency
      Nitschke S, Sullivan MA, Mitra S, Marchioni CR, Lee JP, Smith BH, Ahonen S, Wu J, Chown EE, Wang P, Petković S, Zhao X, Digiovanni LF, Perri AM, Israelian L, Grossman TR, Kordasiewicz H, Vilaplana F, Iwai K, Nitschke F, Minassian BA Brain 2022 Jul 145 2361-2377
    • The role of common genetic variation in presumed monogenic epilepsies
      Author Collaboration TE, Author Collaboration GE, Author Collaboration TE, Campbell C, Leu C, Feng YC, Wolking S, Moreau C, Ellis C, Ganesan S, Martins H, Oliver K, Boothman I, Benson K, Molloy A, Brody L, Michaud JL, Hamdan FF, Minassian BA, Lerche H, Scheffer IE, Sisodiya S, Girard S, Cosette P, Delanty N, Lal D, Cavalleri GL EBioMedicine 2022 Jul 81
    • Assessment of burden and segregation profiles of CNVs in patients with epilepsy
      Moreau C, Tremblay F, Wolking S, Girard A, Laprise C, Hamdan FF, Michaud JL, Minassian BA, Cossette P, Girard SL Annals of Clinical and Translational Neurology 2022 Jul 9 1050-1058
    • Ocular phenotype and electroretinogram abnormalities in Lafora disease and correlation with disease stage
      Orsini A, Ferrari D, Riva A, Santangelo A, Macrì A, Freri E, Canafoglia L, D’Aniello A, Di Gennaro G, Massimetti G, Minetti C, Zara F, Michelucci R, Tumber A, Vincent A, Minassian BA, Striano P Journal of neurology 2022 Jul 269 3597-3604
    • Gene Therapy: Novel Approaches to Targeting Monogenic Epilepsies
      Goodspeed K, Bailey RM, Prasad S, Sadhu C, Cardenas JA, Holmay M, Bilder DA, Minassian BA Frontiers in Neurology 2022 Jun 13
    • Lafora disease: Current biology and therapeutic approaches
      Mitra S, Gumusgoz E, Minassian BA Revue Neurologique 2022 Apr 178 315-325
    • AAV-Mediated Artificial miRNA Reduces Pathogenic Polyglucosan Bodies and Neuroinflammation in Adult Polyglucosan Body and Lafora Disease Mouse Models
      Gumusgoz E, Kasiri S, Guisso DR, Wu J, Dear M, Verhalen B, Minassian BA Neurotherapeutics 2022 Apr 19 982-993
    • A Review of Targeted Therapies for Monogenic Epilepsy Syndromes
      Zimmern V, Minassian B, Korff C Frontiers in Neurology 2022 Feb 13
    • LUBAC: A new player in polyglucosan body disease
      Aboujaoude A, Minassian B, Mitra S Biochemical Society Transactions 2021 Nov 49 2443-2454
    • Gys1 antisense therapy rescues neuropathological bases of murine Lafora disease
      Ahonen S, Nitschke S, Grossman TR, Kordasiewicz H, Wang P, Zhao X, Guisso DR, Kasiri S, Nitschke F, Minassian BA Brain 2021 Oct 144 2985-2993
    • EPM2A in-frame deletion slows neurological decline in Lafora Disease
      Lomax LB, Verhalen B, Minassian BA Seizure 2021 Oct 91 97-98
    • Alleviation of a polyglucosan storage disorder by enhancement of autophagic glycogen catabolism
      Kakhlon O, Vaknin H, Mishra K, D’Souza J, Marisat M, Sprecher U, Wald-Altman S, Dukhovny A, Raviv Y, Da’adoosh B, Engel H, Benhamron S, Nitzan K, Sweetat S, Permyakova A, Mordechai A, Akman HO, Rosenmann H, Lossos A, Tam J, Minassian BA, Weil M EMBO Molecular Medicine 2021 Oct 13
    • Retinal alterations in patients with Lafora disease
      Heitkotter H, Linderman RE, Cava JA, Woertz EN, Mastey RR, Summerfelt P, Chui TY, Rosen RB, Patterson EJ, Vincent A, Carroll J, Minassian BA American Journal of Ophthalmology Case Reports 2021 Sep 23
    • Canine lafora disease: An unstable repeat expansion disorder
      von Klopmann T, Ahonen S, Espadas-Santiuste I, Matiasek K, Sanchez-Masian D, Rupp S, Vandenberghe H, Rose J, Wang T, Wang P, Minassian BA, Rusbridge C Life 2021 Jul 11
    • Ppp1r3d deficiency preferentially inhibits neuronal and cardiac Lafora body formation in a mouse model of the fatal epilepsy Lafora disease
      Israelian L, Nitschke S, Wang P, Zhao X, Perri AM, Lee JP, Verhalen B, Nitschke F, Minassian BA Journal of Neurochemistry 2021 Jun 157 1897-1910
    • The antioxidant MnTBAP does not effectively downregulate CD4 expression in T cells in vivo
      Manouchehri N, Guisso DR, Hussain RZ, Minassian BA, Stüve O Journal of Neuroimmunology 2021 May 354
    • 251st ENMC international workshop: Polyglucosan storage myopathies 13–15 December 2019, Hoofddorp, the Netherlands
      Author Collaboration E2, Laforêt P, Oldfors A, Malfatti E, Vissing J, Colle MA, Duran J, Gentry M, Guinovart J, Hurley T, Kakhlon O, Krag T, Landy H, Lilleør CB, Minassian B, Mingozzi F, Murphy E, Piercy R, Piraud M, Ramanan V, Stemmerik M, Thomsen C, Weil M Neuromuscular Disorders 2021 May 31 466-477
    • Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlations
      Author Collaboration IL, Riva A, Orsini A, Scala M, Taramasso V, Canafoglia L, d'Orsi G, Di Claudio MT, Avolio C, D'Aniello A, Elia M, Franceschetti S, Di Gennaro G, Bisulli F, Tinuper P, Tappatà M, Romeo A, Freri E, Marini C, Costa C, Sofia V, Ferlazzo E, Magaudda A, Veggiotti P, Gennaro E, Pistorio A, Minetti C, Bianchi A, Striano S, Michelucci R, Zara F, Minassian BA, Striano P Journal of the Neurological Sciences 2021 May 424
    • Targeting Gys1 with AAV‐SaCas9 Decreases Pathogenic Polyglucosan Bodies and Neuroinflammation in Adult Polyglucosan Body and Lafora Disease Mouse Models
      Gumusgoz E, Guisso DR, Kasiri S, Wu J, Dear M, Verhalen B, Nitschke S, Mitra S, Nitschke F, Minassian BA Neurotherapeutics 2021 Apr 18 1414-1425
    • An inducible glycogen synthase-1 knockout halts but does not reverse lafora disease progression in mice
      Nitschke S, Chown EE, Xiaochu Z, Gabrielian S, Petkovic S, Guisso DR, Perri AM, Wang P, Ahonen S, Nitschke F, Minassian BA Journal of Biological Chemistry 2021 Jan 296
    • SUCLA2 Arg407Trp mutation can cause a nonprogressive movement disorder – deafness syndrome
      Alkhater RA, Ahonen S, Minassian BA Annals of Clinical and Translational Neurology 2021 Jan 8 252-258
    • Mutations in the V-ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease
      Cannata Serio M, Graham LA, Ashikov A, Larsen LE, Raymond K, Timal S, Le Meur G, Ryan M, Czarnowska E, Jansen JC, He M, Ficicioglu C, Pichurin P, Hasadsri L, Minassian B, Rugierri A, Kalimo H, Ríos-Ocampo WA, Gilissen C, Rodenburg R, Jonker JW, Holleboom AG, Morava E, Veltman JA, Socha P, Stevens TH, Simons M, Lefeber DJ Hepatology 2020 Dec 72 1968-1986
    • SUCLA2 mutations cause global protein succinylation contributing to the pathomechanism of a hereditary mitochondrial disease
      Gut P, Matilainen S, Meyer JG, Pällijeff P, Richard J, Carroll CJ, Euro L, Jackson CB, Isohanni P, Minassian BA, Alkhater RA, Østergaard E, Civiletto G, Parisi A, Thevenet J, Rardin MJ, He W, Nishida Y, Newman JC, Liu X, Christen S, Moco S, Locasale JW, Schilling B, Suomalainen A, Verdin E Nature communications 2020 Dec 11
    • Exploiting the diphtheria toxin internalization receptor enhances delivery of proteins to lysosomes for enzyme replacement therapy
      Sugiman-Marangos SN, Beilhartz GL, Zhao X, Zhou D, Hua R, Kim PK, Rini JM, Minassian BA, Melnyk RA Science Advances 2020 Dec 6
    • GYS1 or PPP1R3C deficiency rescues murine adult polyglucosan body disease
      Chown EE, Wang P, Zhao X, Crowder JJ, Strober JW, Sullivan MA, Xue Y, Bennett CS, Perri AM, Evers BM, Roach PJ, Depaoli-Roach AA, Akman HO, Pederson BA, Minassian BA Annals of Clinical and Translational Neurology 2020 Nov 7 2186-2198
    • Sensitive quantification of a-glucans in mouse tissues, cell cultures, and human cerebrospinal fluid
      Nitschke S, Petkovic S, Ahonen S, Minassian BA, Nitschke F Journal of Biological Chemistry 2020 Oct 295 14698-14709
    • Multiomic elucidation of a coding 99-mer repeat-expansion skeletal muscle disease
      Ruggieri A, Naumenko S, Smith MA, Iannibelli E, Blasevich F, Bragato C, Gibertini S, Barton K, Vorgerd M, Marcus K, Wang P, Maggi L, Mantegazza R, Dowling JJ, Kley RA, Mora M, Minassian BA Acta Neuropathologica 2020 Aug 140 231-235
    • Defining the phenotype of FHF1 developmental and epileptic encephalopathy
      Trivisano M, Ferretti A, Bebin E, Huh L, Lesca G, Siekierska A, Takeguchi R, Carneiro M, De Palma L, Guella I, Haginoya K, Shi RM, Kikuchi A, Kobayashi T, Jung J, Lagae L, Milh M, Mathieu ML, Minassian BA, Novelli A, Pietrafusa N, Takeshita E, Tartaglia M, Terracciano A, Thompson ML, Cooper GM, Vigevano F, Villard L, Villeneuve N, Buyse GM, Demos M, Scheffer IE, Specchio N Epilepsia 2020 Jul 61 e71-e78
    • Epilepsy phenotype in individuals with chromosomal duplication encompassing FGF12
      Willemsen MH, Goel H, Verhoeven JS, Braakman HM, de Leeuw N, Freeth A, Minassian BA Epilepsia Open 2020 Jun 5 301-306
    • From Genetic Testing to Precision Medicine in Epilepsy
      Striano P, Minassian BA Neurotherapeutics 2020 Apr 17 609-615
    • Emerging treatments for progressive myoclonus epilepsies
      Riva A, Guglielmo A, Balagura G, Marchese F, Amadori E, Iacomino M, Minassian BA, Zara F, Striano P Expert review of neurotherapeutics 2020 Apr 20 341-350
    • Sexually Divergent Mortality and Partial Phenotypic Rescue after Gene Therapy in a Mouse Model of Dravet Syndrome
      Niibori Y, Lee SJ, Minassian BA, Hampson DR Human gene therapy 2020 Mar 31 339-351
    • The 5th International Lafora Epilepsy Workshop: Basic science elucidating therapeutic options and preparing for therapies in the clinic
      Gentry MS, Afawi Z, Armstrong DD, Delgado-Escueta A, Goldberg YP, Grossman TR, Guinovart JJ, Harris F, Hurley TD, Michelucci R, Minassian BA, Sanz P, Worby CA, Serratosa JM Epilepsy and Behavior 2020 Feb 103
    • Polygenic risk scores of several subtypes of epilepsies in a founder population
      Moreau C, Rébillard RM, Wolking S, Michaud J, Tremblay F, Girard A, Bouchard J, Minassian B, Laprise C, Cossette P, Girard SL Neurology: Genetics 2020 6
    • What Is Epilepsy?
      Minassian B, Lewis E, Whitney R 2020 Jan 2123-2141
    • Ketogenic diet reduces: Lafora bodies in murine Lafora disease
      Israelian L, Wang P, Gabrielian S, Zhao X, Minassian BA Neurology: Genetics 2020 6
    • Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A
      Steward CA, Roovers J, Suner MM, Gonzalez JM, Uszczynska-Ratajczak B, Pervouchine D, Fitzgerald S, Viola M, Stamberger H, Hamdan FF, Ceulemans B, Leroy P, Nava C, Lepine A, Tapanari E, Keiller D, Abbs S, Sanchis-Juan A, Grozeva D, Rogers AS, Diekhans M, Guigó R, Petryszak R, Minassian BA, Cavalleri G, Vitsios D, Petrovski S, Harrow J, Flicek P, Lucy Raymond F, Lench NJ, Jonghe PD, Mudge JM, Weckhuysen S, Sisodiya SM, Frankish A npj Genomic Medicine 2019 Dec 4
    • Genotypes and phenotypes of patients with Lafora disease living in Germany
      Brenner D, Baumgartner T, Von Spiczak S, Lewerenz J, Weis R, Grimmer A, Gaspirova P, Wurster CD, Kunz WS, Wagner J, Minassian BA, Elger CE, Ludolph AC, Biskup S, Döcker D Neurological Research and Practice 2019 Nov 1
    • The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy
      Orsini A, Valetto A, Bertini V, Esposito M, Carli N, Minassian BA, Bonuccelli A, Peroni D, Michelucci R, Striano P Seizure 2019 Oct 71 247-257
    • Both gain-of-function and loss-of-function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox-Gastaut syndrome
      Jiang X, Raju PK, D'Avanzo N, Lachance M, Pepin J, Dubeau F, Mitchell WG, Bello-Espinosa LE, Pierson TM, Minassian BA, Lacaille JC, Rossignol E Epilepsia 2019 Sep 60 1881-1894
    • Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients (Genetics in Medicine, (2019), 21, 4, (837-849), 10.1038/s41436-018-0268-1)
      Mignot C, McMahon AC, Bar C, Campeau PM, Davidson C, Buratti J, Nava C, Jacquemont ML, Tallot M, Milh M, Edery P, Marzin P, Barcia G, Barnerias C, Besmond C, Bienvenu T, Bruel AL, Brunga L, Ceulemans B, Coubes C, Cristancho AG, Cunningham F, Dehouck MB, Donner EJ, Duban-Bedu B, Dubourg C, Gardella E, Gauthier J, Geneviève D, Gobin-Limballe S, Goldberg EM, Hagebeuk E, Hamdan FF, Hančárová M, Hubert L, Ioos C, Ichikawa S, Janssens S, Journel H, Kaminska A, Keren B, Koopmans M, Lacoste C, Laššuthová P, Lederer D, Lehalle D, Marjanovic D, Métreau J, Michaud JL, Miller K, Minassian BA, Morales J, Moutard ML, Munnich A, Ortiz-Gonzalez XR, Pinard JM, Prchalová D, Putoux A, Quelin C, Rosen AR, Roume J, Rossignol E, Simon ME, Smol T, Shur N, Shelihan I, Štěrbová K, Vyhnálková E, Vilain C, Soblet J, Smits G, Yang SP, van der Smagt JJ, van Hasselt PM, van Kempen M, Weckhuysen S, Helbig I, Villard L, Héron D, Koeleman B, Møller RS, Lesca G, Helbig KL, Nabbout R, Verbeek NE, Depienne C Genetics in Medicine 2019 Aug 21 1897-1898
    • Dominant LMAN2L mutation causes intellectual disability with remitting epilepsy
      Alkhater RA, Wang P, Ruggieri A, Israelian L, Walker S, Scherer SW, Smith ML, Minassian BA Annals of Clinical and Translational Neurology 2019 Apr 6 807-811
    • IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
      Mignot C, McMahon AC, Bar C, Campeau PM, Davidson C, Buratti J, Nava C, Jacquemont ML, Tallot M, Milh M, Edery P, Marzin P, Barcia G, Barnerias C, Besmond C, Bienvenu T, Bruel AL, Brunga L, Ceulemans B, Coubes C, Cristancho AG, Cunningham F, Dehouck MB, Donner EJ, Duban-Bedu B, Dubourg C, Gardella E, Gauthier J, Geneviève D, Gobin-Limballe S, Goldberg EM, Hagebeuk E, Hamdan FF, Hančárová M, Hubert L, Ioos C, Ichikawa S, Janssens S, Journel H, Kaminska A, Keren B, Koopmans M, Lacoste C, Laššuthová P, Lederer D, Lehalle D, Marjanovic D, Métreau J, Michaud JL, Miller K, Minassian BA, Morales J, Moutard ML, Munnich A, Ortiz-Gonzalez XR, Pinard JM, Prchalová D, Putoux A, Quelin C, Rosen AR, Roume J, Rossignol E, Simon ME, Smol T, Shur N, Shelihan I, Štěrbová K, Vyhnálková E, Vilain C, Soblet J, Smits G, Yang SP, van der Smagt JJ, van Hasselt PM, van Kempen M, Weckhuysen S, Helbig I, Villard L, Héron D, Koeleman B, Møller RS, Lesca G, Helbig KL, Nabbout R, Verbeek NE, Depienne C Genetics in Medicine 2019 Apr 21 837-849
    • Skeletal Muscle Glycogen Chain Length Correlates with Insolubility in Mouse Models of Polyglucosan-Associated Neurodegenerative Diseases
      Sullivan MA, Nitschke S, Skwara EP, Wang P, Zhao X, Pan XS, Chown EE, Wang T, Perri AM, Lee JP, Vilaplana F, Minassian BA, Nitschke F Cell Reports 2019 Apr 27 1334-1344.e6
    • EEG of asymptomatic first-degree relatives of patients with juvenile myoclonic, childhood absence and rolandic epilepsy: a systematic review and meta-analysis
      Tashkandi M, Baarma D, Tricco AC, Boelman C, Alkhater R, Minassian BA Epileptic Disorders 2019 Feb 21 30-41
    • MYORG is associated with recessive primary familial brain calcification
      Arkadir D, Lossos A, Rahat D, Abu Snineh M, Schueler-Furman O, Nitschke S, Minassian BA, Sadaka Y, Lerer I, Tabach Y, Meiner V Annals of Clinical and Translational Neurology 2019 Jan 6 106-113
    • Diabetes mellitus in a patient with lafora disease: Possible links with pancreatic β-cell dysfunction and insulin resistance
      Nicolescu RC, Al-Khawaga S, Minassian BA, Hussain K Frontiers in Pediatrics 2019 6
    • Lafora Body Disease
      Minassian BA, Striano P 2019 Jan 336-341
    • PI4K2A deficiency in an intellectual disability, epilepsy, myoclonus, akathisia syndrome
      Alkhater RA, Scherer SW, Minassian BA, Walker S Annals of Clinical and Translational Neurology 2018 Dec 5 1617-1621
    • Optical coherence tomography features in brothers with aspartylglucosaminuria
      Goodspeed K, Harder LL, Hughes S, Conger D, Taravella J, Gray SJ, Minassian BA Annals of Clinical and Translational Neurology 2018 Dec 5 1622-1626
    • Lafora disease — from pathogenesis to treatment strategies
      Nitschke F, Ahonen SJ, Nitschke S, Mitra S, Minassian BA Nature Reviews Neurology 2018 Oct 14 606-617
    • Chorea-acanthocytosis
      Walker S, Dad R, Thiruvahindrapuram B, Ullah MI, Ahmad A, Hassan MJ, Scherer SW, Minassian BA Neurology: Genetics 2018 Jun 4
    • Extraneurological sparing in long-lived typical Lafora disease
      Goldsmith D, Minassian BA Epilepsia Open 2018 Jun 3 295-298
    • Lafora disease offers a unique window into neuronal glycogen metabolism
      Gentry MS, Guinovart JJ, Minassian BA, Roach PJ, Serratosa JM Journal of Biological Chemistry 2018 May 293 7117-7125
    • Global characterization of copy number variants in epilepsy patients from whole genome sequencing
      Monlong J, Girard SL, Meloche C, Cadieux-Dion M, Andrade DM, Lafreniere RG, Gravel M, Spiegelman D, Dionne-Laporte A, Boelman C, Hamdan FF, Michaud JL, Rouleau G, Minassian BA, Bourque G, Cossette P PLoS genetics 2018 Apr 14
    • Genomic context analysis of de novo STXBP1 mutations identifies evidence of splice site DNA-motif associated hotspots
      Uddin M, Woodbury-Smith M, Chan AJ, Albanna A, Minassian B, Boelman C, Scherer SW G3: Genes, Genomes, Genetics 2018 Apr 8 1115-1118
    • Lafora Disease: A Review of Molecular Mechanisms and Pathology
      Verhalen B, Arnold S, Minassian BA Neuropediatrics 2018 49 357-362
    • Ocular phenotype and electroretinogram abnormalities in Lafora disease: A “window to the brain”
      Vincent A, Macrì A, Tumber A, Koukas N, Ahonen S, Striano P, Minassian BA Neurology 2018 91 137-139
    • High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies
      Author Collaboration DD, Hamdan FF, Myers CT, Cossette P, Lemay P, Spiegelman D, Laporte AD, Nassif C, Diallo O, Monlong J, Cadieux-Dion M, Dobrzeniecka S, Meloche C, Retterer K, Cho MT, Rosenfeld JA, Bi W, Massicotte C, Miguet M, Brunga L, Regan BM, Mo K, Tam C, Schneider A, Hollingsworth G, FitzPatrick DR, Donaldson A, Canham N, Blair E, Kerr B, Fry AE, Thomas RH, Shelagh J, Hurst JA, Brittain H, Blyth M, Lebel RR, Gerkes EH, Davis-Keppen L, Stein Q, Chung WK, Dorison SJ, Benke PJ, Fassi E, Corsten-Janssen N, Kamsteeg EJ, Mau-Them FT, Bruel AL, Verloes A, Õunap K, Minassian BA American Journal of Human Genetics 2017 Nov 101 664-685
    • A novel image-based high-throughput screening assay discovers therapeutic candidates for adult polyglucosan body disease
      Solmesky LJ, Khazanov N, Senderowitz H, Wang P, Minassian BA, Ferreira IM, Yue WW, Lossos A, Weil M, Kakhlon O Biochemical Journal 2017 Oct 474 3403-3420
    • Clinical/Scientific Notes: Hyperventilation-athetosis in ASXL3 deficiency (bainbridge-ropers) syndrome
      Dad R, Walker S, Scherer SW, Hassan MJ, Kang SY, Minassian BA Neurology: Genetics 2017 Oct 3
    • Epilepsy: Transition from pediatric to adult care. Recommendations of the Ontario epilepsy implementation task force
      Andrade DM, Bassett AS, Bercovici E, Borlot F, Bui E, Camfield P, Clozza GQ, Cohen E, Gofine T, Graves L, Greenaway J, Guttman B, Guttman-Slater M, Hassan A, Henze M, Kaufman M, Lawless B, Lee H, Lindzon L, Lomax LB, McAndrews MP, Menna-Dack D, Minassian BA, Mulligan J, Nabbout R, Nejm T, Secco M, Sellers L, Shapiro M, Slegr M, Smith R, Szatmari P, Tao L, Vogt A, Whiting S, Carter Snead O Epilepsia 2017 Sep 58 1502-1517
    • Understanding the brain one amino acid at a time – The case of the FHF1 R52H encephalopathy
      Minassian BA European Journal of Paediatric Neurology 2017 Sep 21 699-700
    • Lafora disease in miniature Wirehaired Dachshunds
      Swain L, Key G, Tauro A, Ahonen S, Wang P, Ackerley C, Minassian BA, Rusbridge C PloS one 2017 Aug 12
    • Pathogenesis of lafora disease: Transition of soluble glycogen to insoluble polyglucosan
      Sullivan MA, Nitschke S, Steup M, Minassian BA, Nitschke F International journal of molecular sciences 2017 Aug 18
    • Structural annotation of Beta-1,4-N-acetyl galactosaminyltransferase 1 (B4GALNT1) causing Hereditary Spastic Paraplegia 26
      Dad R, Malik U, Javed A, Minassian BA, Hassan MJ Gene 2017 Aug 626 258-263
    • Febrile ataxia and myokymia broaden the SPG26 hereditary spastic paraplegia phenotype
      Dad R, Walker S, Scherer SW, Hassan MJ, Alghamdi MD, Minassian BA, Alkhater RA Neurology: Genetics 2017 Jul 3
    • ARHGEF9 disease
      Alber M, Kalscheuer VM, Marco E, Sherr E, Lesca G, Till M, Gradek G, Wiesener A, Korenke C, Mercier S, Becker F, Yamamoto T, Scherer SW, Marshall CR, Walker S, Dutta UR, Dalal AB, Suckow V, Jamali P, Kahrizi K, Najmabadi H, Minassian BA Neurology: Genetics 2017 Jul 3
    • Abnormal glycogen chain length pattern, not hyperphosphorylation, is critical in Lafora disease
      Nitschke F, Sullivan MA, Wang P, Zhao X, Chown EE, Perri AM, Israelian L, Juana-López L, Bovolenta P, Rodríguez de Córdoba S, Steup M, Minassian BA EMBO Molecular Medicine 2017 Jul 9 906-917
    • Genome annotation for clinical genomic diagnostics: Strengths and weaknesses
      Steward CA, Parker AP, Minassian BA, Sisodiya SM, Frankish A, Harrow J Genome Medicine 2017 May 9
    • Cardiac autophagic vacuolation in severe X-linked myopathy with excessive autophagy
      Munteanu I, Kalimo H, Saraste A, Nishino I, Minassian BA Neuromuscular Disorders 2017 Feb 27 185-187
    • Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes
      Ada Chan C, Ledia Brunga B, Lamoureux S, Faheem M, James Drake D, Adam Shlien S, Turner LA, Scherer SW, Minassian BA, Marshall CR, Hawkins C, Hahn CD, Stavropoulos DJ, Yuen RK, Pellecchia G, Woodbury-Smith M, Mohammed Uddin U, Cyrus Boelman B Neurology: Genetics 2017 3
    • Update on pharmacological treatment of progressive myoclonus epilepsies
      Ferlazzo E, Trenite DK, de Haan GJ, Nitschke F, Ahonen S, Gasparini S, Minassian BA Current Pharmaceutical Design 2017 Jan 23 5662-5666
    • De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy
      Author Collaboration EM, de Lange IM, Helbig KL, Weckhuysen S, Møller RS, Velinov M, Dolzhanskaya N, Marsh E, Helbig I, Devinsky O, Tang S, Mefford HC, Myers CT, van Paesschen W, Striano P, van Gassen K, van Kempen M, de Kovel CG, Piard J, Minassian BA, Nezarati MM, Pessoa A, Jacquette A, Maher B, Balestrini S, Sisodiya S, Warde MT, De St Martin A, Chelly J, van 't Slot R, Van Maldergem L, Brilstra EH, Koeleman BP, Davila C, Obregia A, De Jonghe P, Guerrini R, Lehesjoki AE, Marini C, Muhle H, Neubauer B, Pal D, Selmer K, Stephani U, Sterbova K, Talvik T, von Spiczak S, Caglayan H, Weber Y, Hoffman-Zacharska D Journal of medical genetics 2016 Dec 53 850-858
    • Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A
      Han C, Alkhater R, Froukh T, Minassian AG, Galati M, Liu RH, Fotouhi M, Sommerfeld J, Alfrook AJ, Marshall C, Walker S, Bauer P, Scherer SW, Riess O, Buchert R, Minassian BA, McPherson PS American Journal of Human Genetics 2016 Dec 99 1359-1367
    • NHLRC1 repeat expansion in two beagles with Lafora disease
      Hajek I, Kettner F, Simerdova V, Rusbridge C, Wang P, Minassian BA, Palus V Journal of Small Animal Practice 2016 Nov 57 650-652
    • Efficacy and tolerability of perampanel in ten patients with Lafora disease
      Goldsmith D, Minassian BA Epilepsy and Behavior 2016 Sep 62 132-135
    • Fatal hepatic failure and pontine and extrapontine myelinolysis in XMEA
      Ackerley CA, Cooper MA, Munoz DG, Minassian BA Neurology 2016 Sep 87 1417-1419
    • Co-occurrence of 16p13.11 microdeletion and ring chromosome 20 syndrome
      Rodan LH, Zak M, Stavropoulos J, Joseph-George AM, Minassian BA Neurology: Genetics 2016 Feb 2
    • Lafora disease
      Turnbull J, Tiberia E, Striano P, Genton P, Carpenter S, Ackerley CA, Minassian BA Epileptic Disorders 2016 18 S38-S62
    • Erratum to: Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) (Autophagy, 12, 1, 1-222, 10.1080/15548627.2015.1100356
      Klionsky DJ, Abdelmohsen K, Abe A, Abedin MJ, Abeliovich H, Arozena AA, Adachi H, Adams CM, Adams PD, Adeli K, Adhihetty PJ, Adler SG, Agam G, Agarwal R, Aghi MK, Agnello M, Agostinis P, Aguilar PV, Aguirre-Ghiso J, Airoldi EM, Ait-Si-Ali S, Akematsu T, Akporiaye ET, Al-Rubeai M, Albaiceta GM, Albanese C, Albani D, Albert ML, Aldudo J, Algül H, Alirezaei M, Alloza I, Almasan A, Almonte-Beceril M, Alnemri ES, Alonso C, Altan-Bonnet N, Altieri DC, Alvarez S, Alvarez-Erviti L, Alves S, Amadoro G, Amano A, Amantini C, Ambrosio S, Amelio I, Amer AO, Amessou M, Amon A, An Z, Anania FA, Andersen SU, Andley UP, Andreadi CK, Andrieu-Abadie N, Anel A, Ann DK, Anoopkumar-Dukie S, Antonioli M, Aoki H, Apostolova N, Aquila S, Aquilano K, Araki K, Arama E, Aranda A, Araya J, Arcaro A, Arias E, Arimoto H, Ariosa AR, Armstrong JL, Arnould T, Arsov I, Asanuma K, Askanas V, Asselin E, Atarashi R, Atherton SS, Atkin JD, Attardi LD, Auberger P, Auburger G, Aurelian L, Autelli R, Avagliano L, Avantaggiati ML, Avrahami L, Azad N, Awale S, Bachetti T, Backer JM, Bae DH, Bae JS, Bae ON, Bae SH, Baehrecke EH, Baek SH, Baghdiguian S, Bagniewska-Zadworna A, Bai H, Bai J, Bai XY, Bailly Y, Balaji KN, Balduini W, Ballabio A, Balzan R, Banerjee R, Bánhegyi G, Bao H, Barbeau B, Barrachina MD, Barreiro E, Bartel B, Bartolomé A, Bassham DC, Bassi MT, Bast RC, Basu A, Batista MT, Batoko H, Battino M, Bauckman K, Baumgarner BL, Bayer KU, Beale R, Beaulieu JF, Beck GR, Becker C, Beckham JD, Bédard PA, Bednarski PJ, Begley TJ, Behl C, Behrends C, Behrens GM, Behrns KE, Bejarano E, Belaid A, Belleudi F, Bénard G, Berchem G, Bergamaschi D, Bergami M, Berkhout B, Berliocchi L, Bernard A, Bernard M, Bernassola F, Bertolotti A, Bess AS, Besteiro S, Bettuzzi S, Bhalla S, Bhattacharyya S, Bhutia SK, Biagosch C, Bianchi MW, Biard-Piechaczyk M, Billes V, Bincoletto C, Bingol B, Bird SW, Bitoun M, Bjedov I, Blackstone C, Blanc L, Blanco GA, Blomhoff HK, Boada-Romero E, Böckler S, Boes M, Boesze-Battaglia K, Boise LH, Bolino A, Boman A, Bonaldo P, Bordi M, Bosch J, Botana LM, Botti J, Bou G, Bouché M, Bouchecareilh M, Boucher MJ, Boulton ME, Bouret SG, Boya P, Boyer-Guittaut M, Bozhkov PV, Brady N, Braga VM, Brancolini C, Braus GH, Bravo-San-Pedro JM, Brennan LA, Bresnick EH, Brest P, Bridges D, Bringer MA, Brini M, Brito GC, Brodin B, Brookes PS, Brown EJ, Brown K, Broxmeyer HE, Bruhat A, Brum PC, Brumell JH, Brunetti-Pierri N, Bryson-Richardson RJ, Buch S, Buchan AM, Budak H, Bulavin DV, Bultman SJ, Bultynck G, Bumbasirevic V, Burelle Y, Burke RE, Burmeister M, Bütikofer P, Caberlotto L, Cadwell K, Cahova M, Cai D, Cai J, Cai Q, Calatayud S, Camougrand N, Campanella M, Campbell GR, Campbell M, Campello S, Candau R, Caniggia I, Cantoni L, Cao L, Caplan AB, Caraglia M, Cardinali C, Cardoso SM, Carew JS, Carleton LA, Carlin CR, Carloni S, Carlsson SR, Carmona-Gutierrez D, Carneiro LA, Carnevali O, Carra S, Carrier A, Carroll B, Casas C, Casas J, Cassinelli G, Castets P, Castro-Obregon S, Cavallini G, Ceccherini I, Cecconi F, Cederbaum AI, Ceña V, Cenci S, Cerella C, Cervia D, Cetrullo S, Chaachouay H, Chae HJ, Chagin AS, Chai CY, Chakrabarti G, Chamilos G, Chan EY, Chan MT, Chandra D, Chandra P, Chang CP, Chang RC, Chang TY, Chatham JC, Chatterjee S, Chauhan S, Che Y, Cheetham ME, Cheluvappa R, Chen CJ, Chen G, Chen GC, Chen G, Chen H, Chen JW, Chen JK, Chen M, Chen M, Chen P, Chen Q, Chen Q, Chen SD, Chen S, Chen SS, Chen W, Chen WJ, Chen WQ, Chen W, Chen X, Chen YH, Chen YG, Chen Y, Chen Y, Chen Y, Chen YJ, Chen YQ, Chen Y, Chen Z, Chen Z, Cheng A, Cheng CH, Cheng H, Cheong H, Cherry S, Chesney J, Cheung CH, Chevet E, Chi HC, Chi SG, Chiacchiera F, Chiang HL, Chiarelli R, Chiariello M, Chieppa M, Chin LS, Chiong M, Chiu GN, Cho DH, Cho SG, Cho WC, Cho YY, Cho YS, Choi AM, Choi EJ, Choi EK, Choi J, Choi ME, Choi SI, Chou TF, Chouaib S, Choubey D, Choubey V, Chow KC, Chowdhury K, Chu CT, Chuang TH, Chun T, Chung H, Chung T, Chung YL, Chwae YJ, 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Figueiredo RC, de la Fuente J, De Martino L, De Matteis A, De Meyer GR, De Milito A, De Santi M, de Souza W, De Tata V, De Zio D, Debnath J, Dechant R, Decuypere JP, Deegan S, Dehay B, Del Bello B, Del Re DP, Delage-Mourroux R, Delbridge LM, Deldicque L, Delorme-Axford E, Deng Y, Dengjel J, Denizot M, Dent P, Der CJ, Deretic V, Derrien B, Deutsch E, Devarenne TP, Devenish RJ, Di Bartolomeo S, Di Daniele N, Di Domenico F, Di Nardo A, Di Paola S, Di Pietro A, Di Renzo L, Di Antonio A, Díaz-Araya G, Díaz-Laviada I, Diaz-Meco MT, Diaz-Nido J, Dickey CA, Dickson RC, Diederich M, Digard P, Dikic I, Dinesh-Kumar SP, Ding C, Ding WX, Ding Z, Dini L, Distler JH, Diwan A, Djavaheri-Mergny M, Dmytruk K, Dobson RC, Doetsch V, Dokladny K, Dokudovskaya S, Donadelli M, Dong XC, Dong X, Dong Z, Donohue TM, Donohue-Jr TM, Doran KS, D'orazi G, Dorn GW, Dosenko V, Dridi S, Drucker L, Du J, Du LL, Du L, du Toit A, Dua P, Duan L, Duann P, Dubey VK, Duchen MR, Duchosal MA, Duez H, Dugail I, Dumit VI, Duncan 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      Nascimento FA, Borlot F, Cossette P, Minassian BA, Andrade DM Neurology: Genetics 2015 Dec 1
    • CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss
      Heimer G, Sadaka Y, Israelian L, Feiglin A, Ruggieri A, Marshall CR, Scherer SW, Ganelin-Cohen E, Marek-Yagel D, Tzadok M, Nissenkorn A, Anikster Y, Minassian BA, Zeev BB Journal of child neurology 2015 Nov 30 1749-1756
    • Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype
      Jaffer F, Avbersek A, Vavassori R, Fons C, Campistol J, Stagnaro M, De Grandis E, Veneselli E, Rosewich H, Gianotta M, Zucca C, Ragona F, Granata T, Nardocci N, Mikati M, Helseth AR, Boelman C, Minassian BA, Johns S, Garry SI, Scheffer IE, Gourfinkel-An I, Carrilho I, Aylett SE, Parton M, Hanna MG, Houlden H, Neville B, Kurian MA, Novy J, Sander JW, Lambiase PD, Behr ER, Schyns T, Arzimanoglou A, Cross JH, Kaski JP, Sisodiya SM Brain 2015 Oct 138 2859-2874
    • Efficient Delivery of Structurally Diverse Protein Cargo into Mammalian Cells by a Bacterial Toxin
      Auger A, Park M, Nitschke F, Minassian LM, Beilhartz GL, Minassian BA, Melnyk RA Molecular Pharmaceutics 2015 Aug 12 2962-2971
    • Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy
      Ruggieri A, Brancati F, Zanotti S, Maggi L, Pasanisi MB, Saredi S, Terracciano C, Antozzi C, D Apice MR, Sangiuolo F, Novelli G, Marshall CR, Scherer SW, Morandi L, Federici L, Massa R, Mora M, Minassian BA Acta Neuropathologica Communications 2015 Jul 3 44
    • Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene
      DesRoches CL, Patel J, Wang P, Minassian B, Salomons GS, Marshall CR, Mercimek-Mahmutoglu S Gene 2015 Jul 565 187-191
    • No cardiomyopathy in X-linked myopathy with excessive autophagy
      Saraste A, Koskenvuo JW, Airaksinen J, Ramachandran N, Munteanu I, Udd B, Huovinen S, Kalimo H, Minassian BA Neuromuscular Disorders 2015 Jun 25 485-487
    • Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design
      Sean Froese D, Michaeli A, McCorvie TJ, Krojer T, Sasi M, Melaev E, Goldblum A, Zatsepin M, Lossos A, Álvarez R, Escribá PV, Minassian BA, Von Delft F, Kakhlon O, Yue WW Human molecular genetics 2015 Jun 24 5667-5676
    • Diagnostic yield of genetic testing in epileptic encephalopathy in childhood
      Mercimek-Mahmutoglu S, Patel J, Cordeiro D, Hewson S, Callen D, Donner EJ, Hahn CD, Kannu P, Kobayashi J, Minassian BA, Moharir M, Siriwardena K, Weiss SK, Weksberg R, Snead OC Epilepsia 2015 May 56 707-716
    • Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease
      Orhan Akman H, Kakhlon O, Coku J, Peverelli L, Rosenmann H, Rozenstein-Tsalkovich L, Turnbull J, Meiner V, Chama L, Lerer I, Shpitzen S, Leitersdorf E, Paradas C, Wallace M, Schiffmann R, DiMauro S, Lossos A, Minassian BA JAMA neurology 2015 Apr 72 441-445
    • Congenital autophagic vacuolar myopathy is allelic to X-linked myopathy with excessive autophagy
      Munteanu I, Ramachandran N, Ruggieri A, Awaya T, Nishino I, Minassian BA Neurology 2015 Apr 84 1714-1716
    • Rasmussen encephalitis: Response to early immunotherapy in a case of immune-mediated encephalitis
      Liba Z, Muthaffar O, Tang J, Minassian B, Halliday W, Branson H, Ann Yeh E Neurology: Neuroimmunology and NeuroInflammation 2015 Apr 2 e69
    • Autophagy in neuropathology
      Minassian BA, Kalimo H Acta Neuropathologica 2015 Mar 129 333-335
    • Non-coding VMA21 deletions cause X-linked Myopathy with Excessive Autophagy
      Ruggieri A, Ramachandran N, Wang P, Haan E, Kneebone C, Manavis J, Morandi L, Moroni I, Blumbergs P, Mora M, Minassian BA Neuromuscular Disorders 2015 Mar 25 207-211
    • X-linked myopathy with excessive autophagy: a failure of self-eating
      Dowling JJ, Moore SA, Kalimo H, Minassian BA Acta Neuropathologica 2015 Feb 129 383-390
    • Dimeric quaternary structure of human laforin
      Sankhala RS, Koksal AC, Ho L, Nitschke F, Minassian BA, Cingolani G Journal of Biological Chemistry 2015 Feb 290 4552-4559
    • TWO DEFINITE CASES OF SUDDEN UNEXPECTED DEATH IN EPILEPSY IN A FAMILY WITH A DEPDC5 MUTATION
      Nascimento FA, Borlot F, Cossette P, Minassian BA, Andrade DM Neurology: Genetics 2015 1
    • Identical ATP1A3 mutation causes alternating hemiplegia of childhood and rapid-onset dystonia parkinsonism phenotypes
      Boelman C, Lagman-Bartolome AM, MacGregor DL, McCabe J, Logan WJ, Minassian BA Pediatric Neurology 2014 Dec 51 850-853
    • Mild Lafora disease: Clinical, neurophysiologic, and genetic findings
      Ferlazzo E, Canafoglia L, Michelucci R, Gambardella A, Gennaro E, Pasini E, Riguzzi P, Plasmati R, Volpi L, Labate A, Gasparini S, Villani F, Casazza M, Viri M, Zara F, Minassian BA, Turnbull J, Serratosa JM, Guerrero-Lõpez R, Franceschetti S, Aguglia U Epilepsia 2014 Dec 55 e129-e133
    • Absent CNKSR2 causes seizures and intellectual, attention, and language deficits
      Vaags AK, Bowdin S, Smith ML, Gilbert-Dussardier B, Brocke-Holmefjord KS, Sinopoli K, Gilles C, Haaland TB, Vincent-Delorme C, Lagrue E, Harbuz R, Walker S, Marshall CR, Houge G, Kalscheuer VM, Scherer SW, Minassian BA Annals of Neurology 2014 Nov 76 758-764
    • Late adult-onset of X-linked myopathy with excessive autophagy
      Crockett CD, Ruggieri A, Gujrati M, Zallek CM, Ramachandran N, Minassian BA, Moore SA Muscle and Nerve 2014 Jul 50 138-144
    • Genetic testing in infantile spasms identifies a chromosome 13q deletion and retinoblastoma
      Jones K, Minassian BA Pediatric Neurology 2014 May 50 522-524
    • Over-expression of either MECP2-e1 or MECP2-e2 in neuronally differentiated cells results in different patterns of gene expression
      Orlic-Milacic M, Kaufman L, Mikhailov A, Cheung AY, Mahmood H, Ellis J, Gianakopoulos PJ, Minassian BA, Vincent JB PloS one 2014 Apr 9
    • Lafora hastaliǧi ve oksipital lob nöbetleri
      Çalişkan D, Dündar NO, Karahan N, Bozkurt KK, Turnbull J, Minassian BA Turkiye Klinikleri Pediatri 2014 Apr 23 36-39
    • Lafora's odyssey reaches a mysterious port of call
      Minassian BA Brain 2014 Mar 137 646-648
    • PTG protein depletion rescues malin-deficient Lafora disease in mouse
      Turnbull J, Epp JR, Goldsmith D, Zhao X, Pencea N, Wang P, Frankland PW, Ackerley CA, Minassian BA Annals of Neurology 2014 Mar 75 442-446
    • Transition from glycogen to starch metabolism in archaeplastida
      Cenci U, Nitschke F, Steup M, Minassian BA, Colleoni C, Ball SG Trends in Plant Science 2014 Jan 19 18-28
    • The progressive myoclonus epilepsies
      Minassian BA Progress in Brain Research 2014 Jan 213 113-122
    • Deficiency of a glycogen synthase-associated protein, Epm2aip1, causes decreased glycogen synthesis and hepatic insulin resistance
      Turnbull J, Tiberia E, Pereira S, Zhao X, Pencea N, Wheeler AL, Yu WQ, Ivovic A, Naranian T, Israelian N, Draginov A, Piliguian M, Frankland PW, Wang P, Ackerley CA, Giacca A, Minassian BA Journal of Biological Chemistry 2013 Nov 288 34627-34637
    • Inhibiting glycogen synthesis prevents lafora disease in a mouse model
      Pederson BA, Turnbull J, Epp JR, Weaver SA, Zhao X, Pencea N, Roach PJ, Frankland PW, Ackerley CA, Minassian BA Annals of Neurology 2013 Aug 74 297-300
    • Laforin prevents stress-induced polyglucosan body formation and lafora disease progression in neurons
      Liu Y, Wang Y, Ma K, Wang P, Baba O, Zhang H, Parent JM, Zheng P, Liu Y, Minassian BA Molecular Neurobiology 2013 Aug 48 49-61
    • Progressive myoclonus epilepsy
      Girard JM, Turnbull J, Ramachandran N, Minassian BA Handbook of Clinical Neurology 2013 May 113 1731-1736
    • Hyperphosphorylation of glucosyl c6 carbons and altered structure of glycogen in the neurodegenerative epilepsy lafora disease
      Nitschke F, Wang P, Schmieder P, Girard JM, Awrey DE, Wang T, Israelian J, Zhao X, Turnbull J, Heydenreich M, Kleinpeter E, Steup M, Minassian BA Cell Metabolism 2013 May 17 756-767
    • Neuronal ceroid lipofuscinoses
      Chabrol B, Caillaud C, Minassian B Handbook of Clinical Neurology 2013 May 113 1701-1706
    • VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy
      Ramachandran N, Munteanu I, Wang P, Ruggieri A, Rilstone JJ, Israelian N, Naranian T, Paroutis P, Guo R, Ren ZP, Nishino I, Chabrol B, Pellissier JF, Minetti C, Udd B, Fardeau M, Tailor CS, Mahuran DJ, Kissel JT, Kalimo H, Levy N, Manolson MF, Ackerley CA, Minassian BA Acta Neuropathologica 2013 Mar 125 439-457
    • Brain dopamine-serotonin vesicular transport disease and its treatment
      Rilstone JJ, Alkhater RA, Minassian BA New England Journal of Medicine 2013 Feb 368 543-550
    • Identification of genomic deletions spanning the PCDH19 gene in two unrelated girls with intellectual disability and seizures
      Vincent AK, Noor A, Janson A, Minassian BA, Ayub M, Vincent JB, Morel CF Clinical Genetics 2012 Dec 82 540-545
    • Mutation of the CLN6 gene in teenage-onset progressive myoclonus epilepsy
      Andrade DM, Paton T, Turnbull J, Marshall CR, Scherer SW, Minassian BA Pediatric Neurology 2012 Sep 47 205-208
    • Early-onset Lafora body disease
      Turnbull J, Girard JM, Lohi H, Chan EM, Wang P, Tiberia E, Omer S, Ahmed M, Bennett C, Chakrabarty A, Tyagi A, Liu Y, Pencea N, Zhao X, Scherer SW, Ackerley CA, Minassian BA Brain 2012 Sep 135 2684-2698
    • Dravet syndrome: Seizure control and gait in adults with different SCN1A mutations
      Rilstone JJ, Coelho FM, Minassian BA, Andrade DM Epilepsia 2012 Aug 53 1421-1428
    • Increased laforin and laforin binding to glycogen underlie lafora body formation in malin-deficient lafora disease
      Tiberia E, Turnbull J, Wang T, Ruggieri A, Zhao XC, Pencea N, Israelian J, Wang Y, Ackerley CA, Wang P, Liu Y, Minassian BA Journal of Biological Chemistry 2012 Jul 287 25650-25659
    • Clinical/scientific notes
      Girard JM, Stone SS, Lohi H, Blaszykowski C, Teixeira C, Turnbull J, Wang A, Draginov A, Wang P, Zhao XC, Ackerley CA, Frankland PW, Minassian BA Neurology 2012 Jul 79 100-102
    • Glucose-induced beta cell dysfunction in vivo in rats: Link between oxidative stress and endoplasmic reticulum stress
      Tang C, Koulajian K, Schuiki I, Zhang L, Desai T, Ivovic A, Wang P, Robson-Doucette C, Wheeler MB, Minassian B, Volchuk A, Giacca A Diabetologia 2012 May 55 1366-1379
    • Mutations in MECP2 exon 1 in classical rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2
      Gianakopoulos PJ, Zhang Y, Pencea N, Orlic-Milacic M, Mittal K, Windpassinger C, White SJ, Kroisel PM, Chow EW, Saunders CJ, Minassian BA, Vincent JB American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics 2012 Mar 159 B 210-216
    • Lgi2 truncation causes a remitting focal epilepsy in dogs
      Seppälä EH, Jokinen TS, Fukata M, Fukata Y, Webster MT, Karlsson EK, Kilpinen SK, Steffen F, Dietschi E, Leeb T, Eklund R, Zhao X, Rilstone JJ, Lindblad-Toh K, Minassian BA, Lohi H PLoS genetics 2011 Jul 7
    • Lafora bodies in skeletal muscle are fiber type specific(e-pub ahead of print)
      Turnbull J, Girard JM, Pencea N, Zhao X, Graham TE, Wang P, Ackerley CA, Minassian BA Neurology 2011 May 76 1674
    • PTG depletion removes lafora bodies and rescues the fatal epilepsy of lafora disease
      Turnbull J, DePaoli-Roach AA, Zhao X, Cortez MA, Pencea N, Tiberia E, Piliguian M, Roach PJ, Wang P, Ackerley CA, Minassian BA PLoS genetics 2011 Apr 7
    • Lafora disease: A case report, pathologic and genetic study
      Harirchian MH, Esmailee Shandiz E, Turnbull J, Minassian BA, Shahsiah R Indian Journal of Pathology and Microbiology 2011 Apr 54 374-375
    • Gene defects in progressive myoclonus epilepsy
      Serratosa JM, Minassian BA, Ganesh S Epilepsia 2010 Dec 51 75
    • Glycogen hyperphosphorylation underlies Lafora body formation
      Turnbull J, Wang P, Girard JM, Ruggieri A, Wang TJ, Draginov AG, Kameka AP, Pencea N, Zhao X, Ackerley CA, Minassian BA Annals of Neurology 2010 Dec 68 925-933
    • Erratum to Retraction Notice to: VMA21 Deficiency Causes an Autophagic Myopathy by Compromising V-ATPase Activity and Lysosomal Acidification [Cell, 137, (2009), 235-246]
      Ramachandran N, Munteanu I, Wang P, Aubourg P, Rilstone JJ, Israelian N, Naranian T, Paroutis P, Guo R, Ren ZP, Nishino I, Chabrol B, Pellissier JF, Minetti C, Udd B, Fardeau M, Tailor CS, Mahuran DJ, Kissel JT, Kalimo H, Levy N, Manolson MF, Ackerley CA, Minassian BA Cell 2010 Sep 142 984
    • 22-year-old girl with status epilepticus and progressive neurological symptoms
      Striano P, Ackerley CA, Cervasio M, Girard JM, Turnbull J, Del Basso-De Caro ML, Striano S, Zara F, Minassian BA Brain Pathology 2009 Oct 19 727-730
    • Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: An effect of allelic variation in gene expression?
      Klaus V, Vermeulen T, Minassian B, Israelian N, Engel K, Lund AM, Roebrock K, Christensen E, Häberle J Clinical Genetics 2009 Sep 76 263-269
    • Lafora disease as a cause of visually exacerbated myoclonic attacks in a dog
      Webb AA, McMillan C, Cullen CL, Boston SE, Turnbull J, Minassian BA Canadian Veterinary Journal 2009 Sep 50 963-967
    • Mutation I810N in the α3 isoform of Na+,K +-ATPase causes impairments in the sodium pump and hyperexcitability in the CNS
      Clapcote SJ, Duffy S, Xie G, Kirshenbaum G, Bechard AR, Schack VR, Petersen J, Sinai L, Saab BJ, Lerch JP, Minassian BA, Ackerley CA, Sled JG, Cortez MA, Henderson JT, Vilsen B, Roder JC Proceedings of the National Academy of Sciences of the United States of America 2009 Aug 106 14085-14090
    • Treatment options for epileptic myoclonus and epilepsy syndromes associated with myoclonus
      Andrade DM, Hamani C, Minassian BA Expert Opinion on Pharmacotherapy 2009 Jul 10 1549-1560
    • The autosomal recessively inherited progressive myoclonus epilepsies and their genes
      Ramachandran N, Girard JM, Turnbull J, Minassian BA Epilepsia 2009 May 50 29-36
    • Novel exon 1 mutations in MECP2 implicate isoform MeCP2-e1 in classical rett syndrome
      Saunders CJ, Minassian BE, Chow EW, Zhao W, Vincent JB American Journal of Medical Genetics, Part A 2009 May 149 1019-1023
    • VMA21 Deficiency Causes an Autophagic Myopathy by Compromising V-ATPase Activity and Lysosomal Acidification
      Ramachandran N, Munteanu I, Wang P, Aubourg P, Rilstone JJ, Israelian N, Naranian T, Paroutis P, Guo R, Ren ZP, Nishino I, Chabrol B, Pellissier JF, Minetti C, Udd B, Fardeau M, Tailor CS, Mahuran DJ, Kissel JT, Kalimo H, Levy N, Manolson MF, Ackerley CA, Minassian BA Cell 2009 Apr 137 235-246
    • Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis
      Kousi M, Siintola E, Dvorakova L, Vlaskova H, Turnbull J, Topcu M, Yuksel D, Gokben S, Minassian BA, Elleder M, Mole SE, Lehesjoki AE Brain 2009 Mar 132 810-819
    • Abnormal metabolism of glycogen phosphate as a cause for Lafora disease
      Tagliabracci VS, Girard JM, Segvich D, Meyer C, Turnbull J, Zhao X, Minassian BA, DePaoli-Roach AA, Roach PJ Journal of Biological Chemistry 2008 Dec 283 33816-33825
    • Laforin negatively regulates cell cycle progression through glycogen synthase kinase 3β-dependent mechanisms
      Liu R, Wang L, Chen C, Liu Y, Zhou P, Wang Y, Wang X, Turnbull J, Minassian BA, Liu Y, Zheng P Molecular and cellular biology 2008 Dec 28 7236-7244
    • Erratam: Fine-mapping the gene for x-linked myopathy with excessive autophagy (Neurology (2008) 70 (2233-2240))
      Munteanu I, Ramachandran N, Mnatzakanian GN, Villanova M, Fardeau M, Levy N, Kissel JT, Minassian BA Neurology 2008 Sep 71 953
    • Fine-mapping the gene for X-linked myopathy with excessive autophagy
      Munteanu I, Ramachandran N, Mnatzakanian GN, Villanova M, Fardeau M, Levy N, Kissel JT, Minassian BA Neurology 2008 Sep 71 951-953
    • Thrombocytopathy and leukocytopathy in X-linked Myopathy with Excessive Autophagy (XMEA)
      Ackerley CA, Ramachandran N, Munteanu I, Kalimo H, Minassian BA Microscopy and Microanalysis 2008 Aug 14 1524-1525
    • Will my Rett syndrome patient walk, talk, and use her hands?
      Zhang Y, Minassian BA Neurology 2008 Apr 70 1302-1303
    • Unverricht-Lundborg Progressive Myoclonus Epilepsy in Oman
      Santoshkumar B, Turnbull J, Minassian BA Pediatric Neurology 2008 Apr 38 252-255
    • Typical progression of myoclonic epilepsy of the Lafora type: A case report
      Striano P, Zara F, Turnbull J, Girard JM, Ackerley CA, Cervasio M, De Rosa G, Del Basso-De Caro ML, Striano S, Minassian BA Nature Clinical Practice Neurology 2008 Feb 4 106-111
    • Lafora progressive myoclonus epilepsy: Disease course homogeneity in a genetic isolate
      Turnbull J, Kumar S, Ren ZP, Muralitharan S, Naranian T, Ackerley CA, Minassian BA Journal of child neurology 2008 Feb 23 240-242
    • Laforin is a glycogen phosphatase, deficiency of which leads to elevated phosphorylation of glycogen in vivo
      Tagliabracci VS, Turnbull J, Wang W, Girard JM, Zhao X, Skurat AV, Delgado-Escueta AV, Minassian BA, DePaoli-Roach AA, Roach PJ Proceedings of the National Academy of Sciences of the United States of America 2007 Dec 104 19262-19266
    • Erratum: Sequence variants within exon 1 of MECP2 occur in females with mental retardation. (American Journal of Medical Genetics; Part B: Neuropsychiatric Genetics (2007) 144B, (355-360))
      Harvey CG, Menon SD, Stachowiak B, Noor A, Proctor A, Mensah AK, Mnatzakanian GN, Alfred SE, Guo R, Scherer SW, Kennedy JL, Roberts W, Srivastava AK, Minassian BA, Vincent JB American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics 2007 Oct 144 969
    • Lafora-like ground-glass inclusions in hepatocytes of pediatric patients: A report of two cases
      O'Shea AM, Wilson GJ, Ling SC, Minassian BA, Turnbull J, Cutz E Pediatric and Developmental Pathology 2007 Sep 10 351-357
    • The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter
      Siintola E, Topcu M, Aula N, Lohi H, Minassian BA, Paterson AD, Liu XQ, Wilson C, Lahtinen U, Anttonen AK, Lehesjoki AE American Journal of Human Genetics 2007 Jul 81 136-146
    • Lafora disease, seizures and sugars
      Andrade DM, Turnbull J, Minassian BA Acta Myologica 2007 Jul 26 83-86
    • Genetics of epilepsies
      Andrade DM, Minassian BA Expert review of neurotherapeutics 2007 Jun 7 727-734
    • Sequence variants within exon 1 of MECP2 occur in females with mental retardation
      Harvey CG, Menon SD, Stachowiak B, Noor A, Proctor A, Mensah AK, Mnatzakanian GN, Alfred SE, Guo R, Scherer SW, Kennedy JL, Roberts W, Srivistava AK, Minassian BA, Vincent JB American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics 2007 Apr 144 355-360
    • Genetic diagnosis in Lafora disease: Genotype-phenotype correlations and diagnostic pitfalls
      Lohi H, Turnbull J, Zhao XC, Pullenayegum S, Ianzano L, Yahyaoui M, Mikati MA, Franceschetti S, Zara F, Minassian BA Neurology 2007 Mar 68 996-1001
    • Erratum: Comprehensive diagnosis of Rett's syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: Study of a cohort of Israeli patients (Journal of Medical Genetics (2006) 43, (e56))
      Petel-Galil Y, Ben-Zeev B, Greenbaum I, Vecsler M, Goldman B, Lohi H, Minassian BA, Gak E Journal of medical genetics 2007 Feb 44 147
    • Comprehensive diagnosis of Rett's syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: study of a cohort of Israeli patients.
      Petel-Galil Y, Ben-Zeev B, Greenbaum I, Vecsler M, Goldman B, Lohi H, Minassian BA, Gak E Journal of medical genetics 2007 Feb 44 e56
    • Glycogen metabolism in tissues from a mouse model of Lafora disease
      Wang W, Lohi H, Skurat AV, DePaoli-Roach AA, Minassian BA, Roach PJ Archives of Biochemistry and Biophysics 2007 Jan 457 264-269
    • Comprehensive diagnosis of Rett's syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: study of a cohort of Israeli patients.
      Petel-Galil Y, Benteer B, Galil YP, Zeev BB, Greenbaum I, Vecsler M, Goldman B, Lohi H, Minassian BA, Gak E Journal of medical genetics 2006 Dec 43 e56
    • Protein therapy for Unverricht-Lundborg disease using cystatin B transduction by TAT-PTD. Is it that simple?
      Andrade DM, Scherer SW, Minassian BA Epilepsy Research 2006 Nov 72 75-79
    • Animal models of lafora disease
      Ackerley CA, Minassian BA Microscopy and Microanalysis 2006 Aug 12 12-13
    • Demystifying vaccination-associated encephalopathy
      Sell E, Minassian BA Lancet Neurology 2006 Jun 5 465-466
    • Clinical and genetic findings in 26 Italian patients with Lafora disease
      Franceschetti S, Gambardella A, Canafoglia L, Striano P, Lohi H, Gennaro E, Ianzano L, Veggiotti P, Sofia V, Biondi R, Striano S, Gellera C, Annesi G, Madia F, Civitelli D, Rocca FE, Quattrone A, Avanzini G, Minassian B, Zara F Epilepsia 2006 Mar 47 640-643
    • What intractability information is there in the type of generalized seizure?
      Mohamed IS, Minassian BA Advances in neurology 2006 97 141-147
    • On the road to tractability: the current biochemical understanding of progressive myoclonus epilepsies.
      Lohi H, Chan EM, Scherer SW, Minassian BA Advances in neurology 2006 97 399-415
    • Starch-like polyglucosan formation in neuronal dendrites in the Lafora form of human epilepsy: A theory of pathogenesis
      Lohi HT, Minassian BA Biologia - Section Cellular and Molecular Biology 2005 Dec 60 123-129
    • Inherited occipital hypoplasia/syringomyelia in the cavalier king charles spaniel: Experiences in setting up a worldwide DNA collection
      Rusbridge C, Knowler P, Rouleau GA, Minassian BA, Rothuizen J Journal of Heredity 2005 Nov 96 745-749
    • Lafora progressive Myoclonus Epilepsy mutation database-EPM2A and NHLRC1 (EPM2B) genes.
      Ianzano L, Zhang J, Chan EM, Zhao XC, Lohi H, Scherer SW, Minassian BA Human mutation 2005 Oct 26 397
    • Sacred disease secrets revealed: The genetics of human epilepsy
      Turnbull J, Lohi H, Kearney JA, Rouleau GA, Delgado-Escueta AV, Meisler MH, Cossette P, Minassian BA Human molecular genetics 2005 Sep 14 2491-2500
    • Novel glycogen synthase kinase 3 and ubiquitination pathways in progressive myoclonus epilepsy
      Lohi H, Ianzano L, Zhao XC, Chan EM, Turnbull J, Scherer SW, Ackerley CA, Minassian BA Human molecular genetics 2005 Sep 14 2727-2736
    • Clinical stringency greatly improves mutation detection in Rett syndrome
      Gauthier J, De Amorim G, Mnatzakanian GN, Saunders C, Vincent JB, Toupin S, Kauffman D, St.-Onge J, Laurent S, Macleod PM, Minassian BA, Rouleau GA Canadian Journal of Neurological Sciences 2005 Aug 32 321-326
    • Nonepileptic visual hallucinations in Lafora disease
      Andrade DM, Del Campo JM, Moro E, Minassian BA, Wennberg RA Neurology 2005 Apr 64 1311-1312
    • Startle-induced seizures associated with infantile hemiplegia: Implication of the supplementary motor area
      Nolan MA, Otsubo H, Iida K, Minassian BA Epileptic Disorders 2005 Mar 7 49-52
    • Electrophysiology extends the phenotypic spectrum of X-linked myopathy with excessive autophagy
      Munteanu I, Ackerley CA, Mnatzakanian GN, Kissel JT, Minassian BA Neurology 2005 Mar 64 927-928
    • Expanded repeat in canine epilepsy
      Lohi H, Young EJ, Fitzmaurice SN, Rusbridge C, Chan EM, Vervoort M, Turnbull J, Zhao XC, Ianzano L, Paterson AD, Sutter NB, Ostrander EA, André C, Shelton GD, Ackerley CA, Scherer SW, Minassian BA Science 2005 Jan 307 81
    • Progressive myoclonus epilepsies: EPM1, EPM2A, EPM2B.
      Chan EM, Andrade DM, Franceschetti S, Minassian B Advances in neurology 2005 95 47-57
    • Progressive myoclonus epilepsy with polyglucosans (Lafora disease): Evidence for a third locus
      Chan EM, Omer S, Ahmed M, Bridges LR, Bennett C, Scherer SW, Minassian BA Neurology 2004 Aug 63 565-567
    • Laforin preferentially binds the neurotoxic starch-like polyglucosans, which form in its absence in progressive myoclonus epilepsy
      Chan EM, Ackerley CA, Lohi H, Ianzano L, Cortez MA, Shannon P, Scherer SW, Minassian BA Human molecular genetics 2004 Jun 13 1117-1129
    • Erratum: A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome (Native Genetics (2004) 36 (339-341))
      Mnatzakanian GN, Lohi H, Munteanu I, Alfred SE, Yamada T, MacLeod PJ, Jones JR, Scherer SW, Schanen NC, Friez MJ, Vincent JB, Minassian BA Nature genetics 2004 May 36 540
    • A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome
      Mnatzakanian GN, Lohi H, Munteanu I, Alfred SE, Yamada T, MacLeod PJ, Jones JR, Scherer SW, Schanen NC, Friez MJ, Vincent JB, Minassian BA Nature genetics 2004 Apr 36 339-341
    • Loss of Function of the Cytoplasmic Isoform of the Protein Laforin (EPM2A) Causes Lafora Progressive Myoclonus Epilepsy
      Ianzano L, Young EJ, Zhao XC, Chan EM, Rodriguez MT, Torrado MV, Scherer SW, Minassian BA Human mutation 2004 23 170-176
    • Skin biopsy in Lafora disease: Genotype-phenotype correlations and diagnostic pitfalls
      Andrade DM, Ackerley CA, Minett TS, Teive HA, Bohlega S, Scherer SW, Minassian BA Neurology 2003 Dec 61 1611-1614
    • Mutations in NHLRC1 cause progressive myoclonus epilepsy
      Chan EM, Young EJ, Ianzano L, Munteanu I, Zhao X, Christopoulos CC, Avanzini G, Elia M, Ackerley CA, Jovic NJ, Bohlega S, Andermann E, Rouleau GA, Delgado-Escueta AV, Minassian BA, Scherer SW Nature genetics 2003 Oct 35 125-127
    • Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2b) on 6p22
      Chan EM, Bulman DE, Paterson AD, Turnbull J, Andermann E, Andermann F, Rouleau GA, Delgado-Escueta AV, Scherer SW, Minassian BA Journal of medical genetics 2003 Sep 40 671-675
    • Unusual presentation of Lafora's disease
      Al Otaibi SF, Minassian BA, Ackerley CA, Logan WJ, Weiss S Journal of child neurology 2003 Jul 18 499-501
    • Identification of a novel protein interacting with laforin, the EPM2A progressive myoclonus epilepsy gene product
      Ianzano L, Zhao XC, Minassian BA, Scherer SW Genomics 2003 Jun 81 579-587
    • Human chromosome 7: DNA sequence and biology
      Scherer SW, Cheung J, MacDonald JR, Osborne LR, Nakabayashi K, Herbrick JA, Carson AR, Parker-Katiraee L, Skaug J, Khaja R, Zhang J, Hudek AK, Li M, Haddad M, Duggan GE, Fernandez BA, Kanematsu E, Gentles S, Christopoulos CC, Choufani S, Kwasnicka D, Zheng XH, Lai Z, Nusskern D, Zhang Q, Gu Z, Lu F, Zeesman S, Nowaczyk MJ, Teshima I, Chitayat D, Shuman C, Weksberg R, Zackai EH, Grebe TA, Cox SR, Kirkpatrick SJ, Rahman N, Friedman JM, Heng HH, Pelicci PG, Lo-Coco F, Belloni E, Shaffer LG, Pober B, Morton CC, Gusella JF, Bruns GA, Korf BR, Quade BJ, Ligon AH, Ferguson H, Higgins AW, Leach NT, Herrick SR, Lemyre E, Farra CG, Kim HG, Summers AM, Gripp KW, Roberts W, Szatmari P, Winsor EJ, Grzeschik KH, Teebi A, Minassian BA, Kere J, Armengol L, Pujana MA, Estivill X, Wilson MD, Koop BF, Tosi S, Moore GE, Boright AP, Zlotorynski E, Kerem B, Kroisel PM, Petek E, Oscier DG, Mould SJ, Döhner H, Döhner K, Rommens JM, Vincent JB, Venter JC, Li PW, Mural RJ, Adams MD, Tsui LC Science 2003 May 300 767-772
    • Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis
      Teixeira CA, Espinola J, Huo L, Kohlschütter J, Sawin DA, Minassian B, Bessa CJ, Guimarães A, Stephan DA, Sá Miranda MC, MacDonald ME, Ribeiro MG, Boustany RM Human mutation 2003 21 502-508
    • Neuropathological changes in a mouse model of progressive myoclonus epilepsy: Cystatin B deficiency and Unverricht-Lundborg disease
      Shannon P, Pennacchio LA, Houseweart MK, Minassian BA, Myers RM Journal of neuropathology and experimental neurology 2002 Dec 61 1085-1091
    • Narrowing in on the causative defect of an intriguing X-Linked myopathy with excessive autophagy
      Minassian BA, Aiyar R, Alic S, Banwell B, Villanova M, Fardeau M, Mandell JW, Juel VC, Rafii M, Auranen M, Kalimo H Neurology 2002 Aug 59 596-601
    • Progressive myoclonus epilepsy with polyglucosan bodies: Lafora disease.
      Minassian BA Advances in neurology 2002 89 199-210
    • Electrophysiological findings in X-linked myopathy with excessive autophagy
      Jääskeläinen SK, Juel VC, Udd B, Villanova M, Liguori R, Minassian BA, Falck B, Niemi P, Kalimo H Annals of Neurology 2002 51 648-652
    • How high can we go with phenytoin?
      Kozer E, Parvez S, Minassian BA, Kobayashi J, Verjee Z, Koren G Therapeutic Drug Monitoring 2002 24 386-389
    • Lafora's disease: Towards a clinical, pathologic, and molecular synthesis
      Minassian BA Pediatric Neurology 2001 25 21-29
    • Laforin is a cell membrane and endoplasmic reticulum-associated protein tyrosine phosphatase
      Minassian BA, Andrade DM, Ianzano L, Young EJ, Chan E, Ackerley CA, Scherer SW Annals of Neurology 2001 49 271-275
    • Mutation spectrum and predicted function of laforin in Lafora's progressive myoclonus epilepsy
      Minassian BA, Ianzano L, Meloche M, Andermann E, Rouleau GA, Delgado-Escueta AV, Scherer SW Neurology 2000 55 341-346
    • X-linked vacuolar myopathies: Two separate loci and refined genetic mapping
      Auranen M, Villanova M, Muntoni F, Fardeau M, Scherer SW, Kalino H, Minassian BA Annals of Neurology 2000 47 666-669
    • Cyclosporine A neurotoxicity in a patient with idiopathic renal magnesium wasting
      Al-Rasheed AK, Blaser SI, Minassian BA, Benson L, Weiss SK Pediatric Neurology 2000 23 353-356
    • Identification of new and common mutations in the EPM2A gene in Lafora disease
      Minassian BA, Ianzano L, Delgado-Escueta AV, Scherer SW Neurology 2000 Jan 54 488-490
    • Parental imprinting and Angelman syndrome.
      Lalande M, Minassian BA, DeLorey TM, Olsen RW Advances in neurology 1999 79 421-429
    • Magnetoencephalographic localization in pediatric epilepsy surgery: Comparison with invasive intracranial electroencephalography
      Minassian BA, Otsubo H, Weiss S, Elliott I, Rutka JT, Snead OC Annals of Neurology 1999 46 627-633
    • Genetic locus heterogeneity in Lafora's progressive myoclonus epilepsy
      Minassian BA, Sainz J, Serratosa JM, Gee M, Sakamoto LM, Bohlega S, Geoffroy G, Barr C, Scherer SW, Tomiyasu U, Carpenter S, Wigg K, Sanghvi AV, Delgado-Escueta AV Annals of Neurology 1999 45 262-265
    • Mice lacking the β3 subunit of the GABA(A) receptor have the epilepsy phenotype and many of the behavioral characteristics of Angelman syndrome
      DeLorey TM, Handforth A, Anagnostaras SG, Homanics GE, Minassian BA, Asatourian A, Fanselow MS, Delgado-Escueta A, Ellison GD, Olsen RW Journal of Neuroscience 1998 Oct 18 8505-8514
    • Angelman syndrome: Correlations between epilepsy phenotypes and genotypes
      Minassian BA, DeLorey TM, Olsen RW, Philippart M, Bronstein Y, Zhang Q, Guerrini R, Van Ness P, Livet MO, Delgado-Escueta AV Annals of Neurology 1998 Apr 43 485-493
    • Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy
      Minassian BA, Lee Jeffrey R, Herbrick JA, Huizenga J, Soder S, Mungall AJ, Dunham I, Gardner R, Fong CY, Carpenter S, Jardim L, Satishchandra P, Andermann E, Carter Snead O, Lopes-Cendes I, Tsui LC, Delgado-Escueta AV, Rouleau GA, Scherer SW Nature genetics 1998 20 171-174
    • Lafora progressive myoclonus epilepsy: Narrowing the chromosome 6q24 locus by recombinations and homozygosities [4]
      Sainz J, Minassian BA, Serratosa JM, Gee MN, Sakamoto LM, Iranmanesh R, Bohlega S, Baumann RJ, Ryan S, Sparkes RS, Delgado-Escueta AV American Journal of Human Genetics 1997 61 1205-1209
  • X-linked myopathy and excessive autophagy
  • Other human and canine disease genes
  • Lafora disease
  • Infantile Parkinson's disease
  • Genes for the commonest epilepsies

Clinical Focus

  • Pediatric Neurology

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