Berge Minassian, M.D.

Division Chief, Pediatric Neurology

Jimmy Elizabeth Westcott Distinguished Chair in Pediatric Neurology

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.”

Education & Training

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)

Professional Associations & Affiliations

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

Honors & Awards

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 & Publications

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
- 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 9 1881-1894
- 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 JPY, Vilaplana F, Minassian BA, Nitschke F, Cell reports 2019 04 27 5 1334-1344.e6
- 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 4 807-811
- 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 : international epilepsy journal with videotape 2019 Feb 21 1 30-41
- 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 P, Mudge JM, Weckhuysen S, Sisodiya SM, Frankish A, NPJ genomic medicine 2019 4 31
- 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 Ann Clin Transl Neurol 2019 Jan 6 1 106-113
- PI4K2A deficiency in an intellectual disability, epilepsy, myoclonus, akathisia syndrome.
  Alkhater RA, Scherer SW, Minassian BA, Walker S Ann Clin Transl Neurol 2018 Dec 5 12 1617-1621
- Optical coherence tomography features in brothers with aspartylglucosaminuria.
  Goodspeed K, Harder L, Hughes S, Conger D, Taravella J, Gray SJ, Minassian B Annals of clinical and translational neurology 2018 Dec 5 12 1622-1626
- Lafora Disease: A Review of Molecular Mechanisms and Pathology.
  Verhalen B, Arnold S, Minassian BA Neuropediatrics 2018 Oct
- 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, Hancárová 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 MEH, Smol T, Shur N, Shelihan I, Šterbová 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 : official journal of the American College of Medical Genetics 2018 Sep
- Lafora disease - from pathogenesis to treatment strategies.
  Nitschke F, Ahonen SJ, Nitschke S, Mitra S, Minassian BA Nature reviews. Neurology 2018 Aug
- 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 B, Neurology 2018 Jul 91 3 137-139
- Chorea-acanthocytosis: Homozygous 1-kb deletion in VPS13A detected by whole-genome sequencing.
  Walker S, Dad R, Thiruvahindrapuram B, Ullah MI, Ahmad A, Hassan MJ, Scherer SW, Minassian BA Neurol Genet 2018 Jun 4 3 e242
- Extraneurological sparing in long-lived typical Lafora disease.
  Goldsmith D, Minassian BA Epilepsia open 2018 Jun 3 2 295-298
- 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 4 e1007285
- Genomic Context Analysis of de Novo STXBP1 Mutations Identifies Evidence of Splice Site DNA-Motif Associated Hotspots.
  Uddin M, Woodbury-Smith M, Chan AJS, Albanna A, Minassian B, Boelman C, Scherer SW, G3 (Bethesda, Md.) 2018 03 8 4 1115-1118
- Lafora disease offers a unique window into neuronal glycogen metabolism.
  Gentry MS, Guinovart JJ, Minassian BA, Roach PJ, Serratosa J The Journal of biological chemistry 2018 Feb
- Nationwide genetic testing towards eliminating Lafora disease from Miniature Wirehaired Dachshunds in the United Kingdom.
  Ahonen S, Seath I, Rusbridge C, Holt S, Key G, Wang T, Wang P, Minassian BA Canine genetics and epidemiology 2018 5 2
- Diabetes Mellitus in a Patient With Lafora Disease: Possible Links With Pancreatic ?-Cell Dysfunction and Insulin Resistance.
  Nicolescu RC, Al-Khawaga S, Minassian BA, Hussain K Frontiers in pediatrics 2018 6 424
- Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes.
  Uddin M, Woodbury-Smith M, Chan A, Brunga L, Lamoureux S, Pellecchia G, Yuen RKC, Faheem M, Stavropoulos DJ, Drake J, Hahn CD, Hawkins C, Shlien A, Marshall CR, Turner LA, Minassian BA, Scherer SW, Boelman C Neurology. Genetics 2017 Dec 3 6 e199
- High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
  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, Wojcik MH, Albert DVF, Venkateswaran S, Ware T, Jones D, Liu YC, Mohammad SS, Bizargity P, Bacino CA, Leuzzi V, Martinelli S, Dallapiccola B, Tartaglia M, Blumkin L, Wierenga KJ, Purcarin G, O'Byrne JJ, Stockler S, Lehman A, Keren B, Nougues MC, Mignot C, Auvin S, Nava C, Hiatt SM, Bebin M, Shao Y, Scaglia F, Lalani SR, Frye RE, Jarjour IT, Jacques S, Boucher RM, Riou E, Srour M, Carmant L, Lortie A, Major P, Diadori P, Dubeau F, D'Anjou G, Bourque G, Berkovic SF, Sadleir LG, Campeau PM, Kibar Z, Lafrenière RG, Girard SL, Mercimek-Mahmutoglu S, Boelman C, Rouleau GA, Scheffer IE, Mefford HC, Andrade DM, Rossignol E, Minassian BA, Michaud JL American journal of human genetics 2017 Nov 101 5 664-685
- 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 5 e189
- Understanding the brain one amino acid at a time - The case of the FHF1 R52H encephalopathy.
  Minassian BA European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2017 Sep 21 5 699-700
- Update on pharmacological treatment of Progressive Myoclonus Epilepsies.
  Ferlazzo E, Trenite DK, de Haan GJ, Felix Nitschke F, Ahonen S, Gasparini S, Minassian BA Current pharmaceutical design 2017 Aug
- A novel image-based high throughput screening assay discovers therapeutic candidates for adult polyglucosan body disease.
  Solemsky LJ, Khazanov N, Senderowitz H, Wang P, Minassian BA, Ferreira IM, Yue WW, Lossos A, Weil M, Kakhlon O The Biochemical journal 2017 Aug
- 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 8
- 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 Jul
- 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 Jun 3 3 e156
- ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation.
  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 Jun 3 3 e148
- Genome annotation for clinical genomic diagnostics: strengths and weaknesses.
  Steward CA, Parker APJ, Minassian BA, Sisodiya SM, Frankish A, Harrow J Genome medicine 2017 May 9 1 49
- 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 May
- 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 May
- Everolimus does not prevent Lafora body formation in murine Lafora disease.
  Mishra N, Wang P, Goldsmith D, Zhao X, Xue Y, Christians U, Minassian BA Neurology. Genetics 2017 Feb 3 1 e127
- 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 12 8 e0182024
- 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 6 1359-1367
- FHF1 (FGF12) epileptic encephalopathy.
  Al-Mehmadi S, Splitt M, Ramesh V, DeBrosse S, Dessoffy K, Xia F, Yang Y, Rosenfeld JA, Cossette P, Michaud JL, Hamdan FF, Campeau PM, Minassian BA Neurology. Genetics 2016 Dec 2 6 e115
- De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy.
  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 Journal of medical genetics 2016 Dec 53 12 850-858
- NHLRC1 repeat expansion in two beagles with Lafora disease.
  Hajek I, Kettner F, Simerdova V, Rusbridge C, Wang P, Minassian BA, Palus V The Journal of small animal practice 2016 Nov 57 11 650-652
- Cardiac autophagic vacuolation in severe X-linked myopathy with excessive autophagy.
  Munteanu I, Kalimo H, Saraste A, Nishino I, Minassian BA Neuromuscular disorders : NMD 2016 Oct
- Lafora disease.
  Turnbull J, Tiberia E, Striano P, Genton P, Carpenter S, Ackerley CA, Minassian BA Epileptic disorders : international epilepsy journal with videotape 2016 Sep 18 S2 38-62
- Fatal hepatic failure and pontine and extrapontine myelinolysis in XMEA.
  Ackerley CA, Cooper MA, Munoz DG, Minassian BA Neurology 2016 Sep 87 13 1417-9
- Progressive Myoclonus Epilepsy: The Gene-Empowered Era.
  Minassian BA, Striano P, Avanzini G Epileptic disorders : international epilepsy journal with videotape 2016 Sep 18 S2 1-2
- Neuronal ceroid lipofuscinoses.
  Nita DA, Mole SE, Minassian BA Epileptic disorders : international epilepsy journal with videotape 2016 Sep 18 S2 73-88
- The history of progressive myoclonus epilepsies.
  Genton P, Striano P, Minassian BA Epileptic disorders : international epilepsy journal with videotape 2016 Sep 18 S2 3-10
- Efficacy and tolerability of perampanel in ten patients with Lafora disease.
  Goldsmith D, Minassian BA Epilepsy & behavior : E&B 2016 Sep 62 132-5
- Post-modern therapeutic approaches for progressive myoclonus epilepsy.
  Minassian BA Epileptic disorders : international epilepsy journal with videotape 2016 Sep 18 S2 154-158
- 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 1 e43
- 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 Dec 1 4 e28
- CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene.
  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 13 1749-56
- 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 : a journal of neurology 2015 Oct 138 Pt 10 2859-74
- Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design.
  Froese DS, 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 Oct 24 20 5667-76
- 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 8 2962-71
- 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
- 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 : NMD 2015 Jun 25 6 485-7
- 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 5 707-16
- Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease.
  Akman HO, 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 4 441-5
- 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 16 1714-6
- X-linked myopathy with excessive autophagy: a failure of self-eating.
  Dowling JJ, Moore SA, Kalimo H, Minassian BA Acta neuropathologica 2015 Mar 129 3 383-90
- Autophagy in neuropathology.
  Minassian BA, Kalimo H Acta neuropathologica 2015 Mar 129 3 333-5
- 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 : NMD 2015 Mar 25 3 207-11
- Dimeric quaternary structure of human laforin.
  Sankhala RS, Koksal AC, Ho L, Nitschke F, Minassian BA, Cingolani G The Journal of biological chemistry 2015 Feb 290 8 4552-9
- 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-López R, Franceschetti S, Aguglia U Epilepsia 2014 Dec 55 12 e129-33
- 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 6 850-3
- 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 5 758-64
- 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 & nerve 2014 Jul 50 1 138-44
- Genetic testing in infantile spasms identifies a chromosome 13q deletion and retinoblastoma.
  Jones K, Minassian BA Pediatric neurology 2014 May 50 5 522-4
- Lafora's odyssey reaches a mysterious port of call.
  Minassian BA Brain : a journal of neurology 2014 Mar 137 Pt 3 646-8
- 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 3 442-6
- 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 1 18-28
- The progressive myoclonus epilepsies.
  Minassian BA Progress in brain research 2014 213 113-22
- 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 9 4 e91742
- 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 The Journal of biological chemistry 2013 Nov 288 48 34627-37
- 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 2 297-300
- Laforin prevents stress-induced polyglucosan body formation and Lafora disease progression in neurons.
  Wang Y, Ma K, Wang P, Baba O, Zhang H, Parent JM, Zheng P, Liu Y, Minassian BA, Liu Y Molecular neurobiology 2013 Aug 48 1 49-61
- 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 5 756-67
- 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 3 439-57
- Brain dopamine-serotonin vesicular transport disease and its treatment.
  Rilstone JJ, Alkhater RA, Minassian BA The New England journal of medicine 2013 Feb 368 6 543-50
- Progressive myoclonus epilepsy.
  Girard JM, Turnbull J, Ramachandran N, Minassian BA Handbook of clinical neurology 2013 113 1731-6
- 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 6 540-5
- 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 : a journal of neurology 2012 Sep 135 Pt 9 2684-98
- 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 3 205-8
- Dravet syndrome: seizure control and gait in adults with different SCN1A mutations.
  Rilstone JJ, Coelho FM, Minassian BA, Andrade DM Epilepsia 2012 Aug 53 8 1421-8
- Phosphorylation prevents polyglucosan transport in Lafora disease.
  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 1 100-2
- 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 The Journal of biological chemistry 2012 Jul 287 30 25650-9
- 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 : the official publication of the International Society of Psychiatric Genetics 2012 Mar 159B 2 210-6
- 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 7 e1002194
- Lafora bodies in skeletal muscle are fiber type specific.
  Turnbull J, Girard JM, Pencea N, Zhao X, Graham TE, Wang P, Ackerley CA, Minassian BA Neurology 2011 May 76 19 1674-6
- Lafora disease: a case report, pathologic and genetic study.
  Harirchian MH, Shandiz EE, Turnbull J, Minassian BA, Shahsiah R Indian journal of pathology & microbiology 2011 Apr-Jun 54 2 374-5
- 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 4 e1002037
- 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 6 925-33
- 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 (Zurich, Switzerland) 2009 Oct 19 4 727-30
- 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 The Canadian veterinary journal = La revue veterinaire canadienne 2009 Sep 50 9 963-7
- Mutation I810N in the alpha3 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, Rodacker Schack V, 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 33 14085-90
- Treatment options for epileptic myoclonus and epilepsy syndromes associated with myoclonus.
  Andrade DM, Hamani C, Minassian BA Expert opinion on pharmacotherapy 2009 Jul 10 10 1549-60
- The autosomal recessively inherited progressive myoclonus epilepsies and their genes.
  Ramachandran N, Girard JM, Turnbull J, Minassian BA Epilepsia 2009 May 50 Suppl 5 29-36
- 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 : a journal of neurology 2009 Mar 132 Pt 3 810-9
- Laforin negatively regulates cell cycle progression through glycogen synthase kinase 3beta-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 23 7236-44
- 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 The Journal of biological chemistry 2008 Dec 283 49 33816-25
- 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 12 951-3
- Will my Rett syndrome patient walk, talk, and use her hands?
  Zhang Y, Minassian BA Neurology 2008 Apr 70 16 1302-3
- Unverricht-Lundborg progressive myoclonus epilepsy in Oman.
  Santoshkumar B, Turnbull J, Minassian BA Pediatric neurology 2008 Apr 38 4 252-5
- 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 2 240-2
- 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 2 106-11
- 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 49 19262-6
- 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 : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society 2007 Sep-Oct 10 5 351-7
- 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 1 136-46
- Lafora disease, seizures and sugars.
  Andrade DM, Turnbull J, Minassian BA Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 2007 Jul 26 1 83-6
- Genetics of epilepsies.
  Andrade DM, Minassian BA Expert review of neurotherapeutics 2007 Jun 7 6 727-34
- 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, Srivastava AK, Srivistava AK, Minassian BA, Vincent JB American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2007 Apr 144B 3 355-60
- 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, Quinn NP, Franceschetti S, Zara F, Minassian BA Neurology 2007 Mar 68 13 996-1001
- 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 2 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 2 264-9
- 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 1 75-9
- Demystifying vaccination-associated encephalopathy.
  Sell E, Minassian BA The Lancet. Neurology 2006 Jun 5 6 465-6
- What intractability information is there in the type of generalized seizure?
  Mohamed IS, Minassian BA Advances in neurology 2006 97 141-7
- 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
- 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 Oct 14 Spec No. 2 2491-2500
- 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 4 397
- 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 18 2727-36
- 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 The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2005 Aug 32 3 321-6
- Nonepileptic visual hallucinations in Lafora disease.
  Andrade DM, del Campo JM, Moro E, Minassian BA, Wennberg RA Neurology 2005 Apr 64 7 1311-2
- Startle-induced seizures associated with infantile hemiplegia: implication of the supplementary motor area.
  Nolan MA, Otsubo H, Iida K, Minassian BA Epileptic disorders : international epilepsy journal with videotape 2005 Mar 7 1 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 5 927-8
- 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 (New York, N.Y.) 2005 Jan 307 5706 81
- 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 3 565-7
- 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 11 1117-29
- 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 4 339-41
- 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 Feb 23 2 170-6
- 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 11 1611-4
- 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 2 125-7
- 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 9 671-5
- Unusual presentation of Lafora's disease.
  Al Otaibi SF, Minassian BA, Ackerley CA, Logan WJ, Weiss S Journal of child neurology 2003 Jul 18 7 499-501
- 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 6 579-87
- 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 (New York, N.Y.) 2003 May 300 5620 767-72
- 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 12 1085-91
- 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 4 596-601
- How high can we go with phenytoin?
  Kozer E, Parvez S, Minassian BA, Kobayashi J, Verjee Z, Koren G Therapeutic drug monitoring 2002 Jun 24 3 386-9
- 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 May 51 5 648-52
- Progressive myoclonus epilepsy with polyglucosan bodies: Lafora disease.
  Minassian BA Advances in neurology 2002 89 199-210
- Lafora's disease: towards a clinical, pathologic, and molecular synthesis.
  Minassian BA Pediatric neurology 2001 Jul 25 1 21-9
- 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 Feb 49 2 271-5
- 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 Oct 23 4 353-6
- 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 Aug 55 3 341-6
- 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 May 47 5 666-9
- 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 2 488-90
- 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 Oct 46 4 627-33
- 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 Feb 45 2 262-5
- Parental imprinting and Angelman syndrome.
  Lalande M, Minassian BA, DeLorey TM, Olsen RW Advances in neurology 1999 79 421-9
- Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy.
  Minassian BA, Lee JR, Herbrick JA, Huizenga J, Soder S, Mungall AJ, Dunham I, Gardner R, Fong CY, Carpenter S, Jardim L, Satishchandra P, Andermann E, Snead OC, Lopes-Cendes I, Tsui LC, Delgado-Escueta AV, Rouleau GA, Scherer SW Nature genetics 1998 Oct 20 2 171-4
- Mice lacking the beta3 subunit of the GABAA 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 The Journal of neuroscience : the official journal of the Society for Neuroscience 1998 Oct 18 20 8505-14
- 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 4 485-93
- Lafora progressive myoclonus epilepsy: narrowing the chromosome 6q24 locus by recombinations and homozygosities.
  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 Nov 61 5 1205-9
- Genetics of myoclonic and myoclonus epilepsies.
  Minassian BA, Sainz J, Delgado-Escueta AV Clinical neuroscience (New York, N.Y.) 1995-1996 3 4 223-35

Research

X-linked myopathy and excessive autophagy
Other human and canine disease genes
Lafora disease
Infantile Parkinson's disease
Genes for the commonest epilepsies