- Medical School - State University of New York - Upstate (1965-1969)
- Internship - State University of New York Upstate Medical University (1969-1970), Pediatrics
- Residency - State University of New York Upstate Medical University (1970-1971), Pediatrics
- Residency - Washington University/St. Louis Childrens Hospital (1971-1972), Pediatrics
- Fellowship - Strong Mem Hosp Univ of Rochester (1972-1975), Neurology
Susan Iannaccone, M.D.
- Warren A. Weinberg, M.D., Chair in Pediatric Neurology and Learning
- Pediatric Neurology
Since completing her residency training under the mentorship of Drs. Robert Joynt and Berch Griggs, she has focused her career on the neuromuscular disorders of childhood. For the past two decades, Dr. Susan Iannaccone has worked on management protocols and outcome measures for the most common disorders: spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD). She was the PI and leader for an NIH sponsored clinical trials group, AmSMART from 2000 through 2008. With NIH funding, the group established for the first time reliability and validity for outcome measures in the young spinal muscular atrophy (SMA) population. Current trials in pediatric SMA use many of the principles they established in AmSMART. She was a member of the Outcomes Committee for the International Coordinating Committee for SMA that completed Rasch analysis for motor function outcomes in SMA. This international project made great progress toward validating a single tool to be used as motor function outcome in this population. Currently, she is site-PI for more than half a dozen clinical trials in SMA and DMD.
Dr. Iannaccone is Co-Investigator for the UT Southwestern NeuroNEXT grant from NINDS, and Associate Director for the UT Southwestern Wellstone Muscular Dystrophy Center, NIH funded. She is site PI for the MDA sponsored DMD Research Network. Dallas is one of 5 sites funded for 5 years to perform clinical trials in young boys with DMD. She was Co-chair of the panel to develop Common Data Elements for Pediatric Neuromuscular disease, a project of the NINDS. She was a member of the panels that developed CDEs for congenital muscular dystrophy and for SMA. She was also an invited member of a Steering Committee to govern the project for conducting IND enabling toxicology studies for scAAV9-SMN gene therapy developed at Nationwide Children’s hospital in Columbus, Ohio. The IP is now in clinical trials sponsored by AveXis, and she is site PI for UTSW. She has worked closely over many years with several patient advocacy/volunteer groups including the Muscular Dystrophy Association, and Cure SMA, including but not limited to, the International Standard of Care Committee for Congenital Muscular Dystrophies and the DMD Study Group. She has served on research grant review committees, as well as several planning committees and panels, for them and the NIH.
Dr. Iannaccone was Director of Pediatric Neurology from 2004 to 2016, including duties for training residents and mentoring faculty. Dr. Iannaccone has trained/mentored more than 20 pediatric neuromuscular fellows and medical students, many of whom are currently in academic pediatric neurology positions. She holds 4 pediatric neuromuscular clinics per week, all of which are official MDA sponsored clinics.
Nearly 100% of all children diagnosed with DMD/SMA in north Texas are referred to her team either by their primary care provider, another child neurologist, or by parents who read about their program on the internet. Most of the time, they request information about clinical trials at the first visit and invariably indicate that they are anxious to participate.
In 2018, Dr. Iannaccone was included in D Magazine's Best Doctors list and was named a Super Doctor by Texas Monthly.
- Academy of Pediatrics
- American Academy of Neurology
- American Association for the Advancement of Science
- International Child Neurology Association
- Muscular Dystrophy Association of America
- New York Academy of Science
- Southern Society for Pediatric Research
- The Society for Pediatric Research
- Best Pediatric Specialists 2010-2017, D Magazine
- Speical award from graduating Pediatric Neurology residents for mentoring 2010
- Member, Executive Council 2008, American Neurological Association
- Texas Super Doctors 2008-2017, Texas Monthly Magazine
- Chair, Section on Child Neurology 2007-2009, American Academy of Neurology
- Neurology Alumni Award 2000, University of Rochester Department of Neurology
Swaiman KF, Ashwal S, Ferriero DM, eds. Pediatric Neurology: Principles and Practice. Vol. 2. 4th ed.
Connolly AM, Iannaccone ST.(Ed.) (2006), Philadelphia: Mosby Company; 1859-1885.
Rosenberg RN, Pleasure DE, eds. Comprehensive Neurology. 2nd ed.
Rosenberg RN, Iannaccone ST.(Ed.) (1998), New York: John Wiley & Sons, Inc.
Jones HR, DeVivo DC, Darras BT, eds. Neuromuscular Disorders of Infancy, Childhood, and Adolescence: A Clinician's Approach. 1st ed.
Scott WA, Iannaccone ST.(Ed.) (2003), New York: Butterworth Heinemann, Elsevier; 1237-1250.
Bertorini TE, ed. Neuromuscular Disorders: Treatment and Management. 1st ed.
Ionita C, Iannaccone ST.(Ed.) (2010), Philadelphia: Saunders Elsevier; 179-190.
Younger DS, ed. Motor Disorders. 2nd ed.
Iannaccone ST, Khatri I.(Ed.) (2005), Philadelphia: Lippincott Williams & Wilkins; 491-499.
- Swaiman KF, Ashwal S, Ferriero DM, eds. Pediatric Neurology: Principles and Practice. Vol. 2. 4th ed.
Natural History of Infantile-Onset Spinal Muscular Atrophy.
Kolb SJ, Coffey CS, Yankey JW, Krosschell K, Arnold WD, Rutkove SB, Swoboda KJ, Reyna SP, Sakonju A, Darras BT, Shell R, Kuntz N, Castro D, Parsons J, Connolly AM, Chiriboga CA, McDonald C, Burnette WB, Werner K, Thangarajh M, Shieh PB, Finanger E, Cudkowicz ME, McGovern MM, McNeil DE, Finkel R, Iannaccone ST, Kaye E, Kingsley A, Renusch SR, McGovern VL, Wang X, Zaworski PG, Prior TW, Burghes AHM, Bartlett A, Kissel JT Annals of neurology 2017 Nov
218th ENMC International Workshop:: Revisiting the consensus on standards of care in SMA Naarden, The Netherlands, 19-21 February 2016.
Finkel RS, Sejersen T, Mercuri E Neuromuscular disorders : NMD 2017 Jun 27 6 596-605
Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial.
McDonald CM, Campbell C, Torricelli RE, Finkel RS, Flanigan KM, Goemans N, Heydemann P, Kaminska A, Kirschner J, Muntoni F, Osorio AN, Schara U, Sejersen T, Shieh PB, Sweeney HL, Topaloglu H, Tulinius M, Vilchez JJ, Voit T, Wong B, Elfring G, Kroger H, Luo X, McIntosh J, Ong T, Riebling P, Souza M, Spiegel RJ, Peltz SW, Mercuri E Lancet (London, England) 2017 Jul
Characterization of pulmonary function in 10-18 year old patients with Duchenne muscular dystrophy.
Meier T, Rummey C, Leinonen M, Spagnolo P, Mayer OH, Buyse GM Neuromuscular disorders : NMD 2017 Apr 27 4 307-314
Treatment effect of idebenone on inspiratory function in patients with Duchenne muscular dystrophy.
Buyse GM, Voit T, Schara U, Straathof CS, D'Angelo MG, Bernert G, Cuisset JM, Finkel RS, Goemans N, Rummey C, Leinonen M, Mayer OH, Spagnolo P, Meier T, McDonald CM Pediatric pulmonology 2017 Apr 52 4 508-515
Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy.
Finkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL, Kirschner J, Chiriboga CA, Saito K, Servais L, Tizzano E, Topaloglu H, Tulinius M, Montes J, Glanzman AM, Bishop K, Zhong ZJ, Gheuens S, Bennett CF, Schneider E, Farwell W, De Vivo DC The New England journal of medicine 2017 11 377 18 1723-1732
Results from a phase 1 study of nusinersen (ISIS-SMNRx) in children with spinal muscular atrophy.
Chiriboga CA, Swoboda KJ, Darras BT, Iannaccone ST, Montes J, De Vivo DC, Norris DA, Bennett CF, Bishop KM Neurology 2016 Feb
Baseline results of the NeuroNEXT spinal muscular atrophy infant biomarker study.
Kolb SJ, Coffey CS, Yankey JW, Krosschell K, Arnold WD, Rutkove SB, Swoboda KJ, Reyna SP, Sakonju A, Darras BT, Shell R, Kuntz N, Castro D, Iannaccone ST, Parsons J, Connolly AM, Chiriboga CA, McDonald C, Burnette WB, Werner K, Thangarajh M, Shieh PB, Finanger E, Cudkowicz ME, McGovern MM, McNeil DE, Finkel R, Kaye E, Kingsley A, Renusch SR, McGovern VL, Wang X, Zaworski PG, Prior TW, Burghes AH, Bartlett A, Kissel JT Annals of clinical and translational neurology 2016 Feb 3 2 132-45
Atypical Presentation for Friedreich Ataxia in a Child.
Caron E, Burns D, Castro D, Iannaccone ST Journal of clinical neuromuscular disease 2015 Sep 17 1 13-7
Evidence-based guideline summary: Evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine.
Kang PB, Morrison L, Iannaccone ST, Graham RJ, Bönnemann CG, Rutkowski A, Hornyak J, Wang CH, North K, Oskoui M, Getchius TS, Cox JA, Hagen EE, Gronseth G, Griggs RC Neurology 2015 Mar 84 13 1369-78
Intrafamilial variability in GMPPB-associated dystroglycanopathy: Broadening of the phenotype.
Bharucha-Goebel DX, Neil E, Donkervoort S, Dastgir J, Wiggs E, Winder TL, Moore SA, Iannaccone ST, Bönnemann CG Neurology 2015 Mar
Spinal muscular atrophy: therapeutic strategies.
Castro D, Iannaccone ST Current treatment options in neurology 2014 Nov 16 11 316
Congenital Myopathies and Muscular Dystrophies.
Gilbreath HR, Castro D, Iannaccone ST Neurologic clinics 2014 Aug 32 3 689-703
Diagnostic approach to the congenital muscular dystrophies.
Bönnemann CG, Wang CH, Quijano-Roy S, Deconinck N, Bertini E, Ferreiro A, Muntoni F, Sewry C, Béroud C, Mathews KD, Moore SA, Bellini J, Rutkowski A, North KN Neuromuscular disorders : NMD 2014 Apr 24 4 289-311
The 6-minute walk test and other endpoints in Duchenne muscular dystrophy: longitudinal natural history observations over 48 weeks from a multicenter study.
McDonald CM, Henricson EK, Abresch RT, Florence JM, Eagle M, Gappmaier E, Glanzman AM, Spiegel R, Barth J, Elfring G, Reha A, Peltz S Muscle & nerve 2013 Sep 48 3 343-56
The 6-minute walk test and other clinical endpoints in duchenne muscular dystrophy: reliability, concurrent validity, and minimal clinically important differences from a multicenter study.
McDonald CM, Henricson EK, Abresch RT, Florence J, Eagle M, Gappmaier E, Glanzman AM, Spiegel R, Barth J, Elfring G, Reha A, Peltz SW Muscle & nerve 2013 Sep 48 3 357-68
Juvenile myasthenia gravis: a twenty-year experience.
Castro D, Derisavifard S, Anderson M, Greene M, Iannaccone S Journal of clinical neuromuscular disease 2013 Mar 14 3 95-102
Rasch analysis of clinical outcome measures in spinal muscular atrophy.
Cano SJ, Mayhew A, Glanzman AM, Krosschell KJ, Swoboda KJ, Main M, Steffensen BF, Bérard C, Girardot F, Payan CA, Mercuri E, Mazzone E, Elsheikh B, Florence J, Hynan LS, Iannaccone ST, Nelson LL, Pandya S, Rose M, Scott C, Sadjadi R, Yore MA, Joyce C, Kissel JT Muscle & nerve 2013 Jul
Congenital muscular dystrophies and congenital myopathies.
Iannaccone ST, Castro D Continuum (Minneapolis, Minn.) 2013 Dec 19 6 Muscle Disease 1509-34
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.
Ceyhan-Birsoy O, Agrawal PB, Hidalgo C, Schmitz-Abe K, Dechene ET, Swanson LC, Soemedi R, Vasli N, Iannaccone ST, Shieh PB, Shur N, Dennison JM, Lawlor MW, Laporte J, Markianos K, Fairbrother WG, Granzier H, Beggs AH Neurology 2013 Aug
Childhood spinal muscular atrophy: controversies and challenges.
Mercuri E, Bertini E, Iannaccone ST Lancet neurology 2012 May 11 5 443-52
Drug treatment for spinal muscular atrophy types II and III.
Wadman RI, Bosboom WM, van der Pol WL, van den Berg LH, Wokke JH, Iannaccone ST, Vrancken AF Cochrane database of systematic reviews (Online) 2012 4 CD006282
Drug treatment for spinal muscular atrophy type I.
Wadman RI, Bosboom WM, van der Pol WL, van den Berg LH, Wokke JH, Iannaccone ST, Vrancken AF Cochrane database of systematic reviews (Online) 2012 4 CD006281
Functional consequences and structural interpretation of mutations of human choline acetyltransferase.
Shen XM, Crawford TO, Brengman J, Acsadi G, Iannaconne S, Karaca E, Khoury C, Mah JK, Edvardson S, Bajzer Z, Rodgers D, Engel AG Human mutation 2011 Nov 32 11 1259-67
Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations.
Scharner J, Brown CA, Bower M, Iannaccone ST, Khatri IA, Escolar D, Gordon E, Felice K, Crowe CA, Grosmann C, Meriggioli MN, Asamoah A, Gordon O, Gnocchi VF, Ellis JA, Mendell JR, Zammit PS Human mutation 2011 Feb 32 2 152-67
Liquid formulation of pentoxifylline is a poorly tolerated treatment for duchenne dystrophy.
Zimmerman A, Clemens PR, Tesi-Rocha C, Connolly A, Iannaccone ST, Kuntz N, Arrieta A, Hache L, Henricson E, Hu F, Mayhew J, Escolar DM Muscle & nerve 2011 Aug 44 2 170-3
Reliability of telephone administration of the PedsQL Generic Quality of Life Inventory and Neuromuscular Module in spinal muscular atrophy (SMA).
Dunaway S, Montes J, Montgomery M, Battista V, Koo B, Marra J, De Vivo DC, Hynan LS, Iannaccone ST, Kaufmann P Neuromuscular disorders : NMD 2010 Mar 20 3 162-5
The PedsQL in pediatric patients with Duchenne muscular dystrophy: feasibility, reliability, and validity of the Pediatric Quality of Life Inventory Neuromuscular Module and Generic Core Scales.
Davis SE, Hynan LS, Limbers CA, Andersen CM, Greene MC, Varni JW, Iannaccone ST Journal of clinical neuromuscular disease 2010 Mar 11 3 97-109
Dystrophinopathy in girls with limb girdle muscular dystrophy phenotype.
Golla S, Agadi S, Burns DK, Marks W, Dev Batish S, del Gaudio D, Iannaccone ST Journal of clinical neuromuscular disease 2010 Jun 11 4 203-8
Consensus statement on standard of care for congenital muscular dystrophies.
Wang CH, Bonnemann CG, Rutkowski A, Sejersen T, Bellini J, Battista V, Florence JM, Schara U, Schuler PM, Wahbi K, Aloysius A, Bash RO, Béroud C, Bertini E, Bushby K, Cohn RD, Connolly AM, Deconinck N, Desguerre I, Eagle M, Estournet-Mathiaud B, Ferreiro A, Fujak A, Goemans N, Iannaccone ST, Jouinot P, Main M, Melacini P, Mueller-Felber W, Muntoni F, Nelson LL, Rahbek J, Quijano-Roy S, Sewry C, Storhaug K, Simonds A, Tseng B, Vajsar J, Vianello A, Zeller R Journal of child neurology 2010 Dec 25 12 1559-81
An analysis of disease severity based on SMN2 copy number in adults with spinal muscular atrophy.
Elsheikh B, Prior T, Zhang X, Miller R, Kolb SJ, Moore D, Bradley W, Barohn R, Bryan W, Gelinas D, Iannaccone S, Leshner R, Mendell JR, Mendoza M, Russman B, Smith S, King W, Kissel JT Muscle & nerve 2009 Oct 40 4 652-6
The PedsQL in pediatric patients with Spinal Muscular Atrophy: feasibility, reliability, and validity of the Pediatric Quality of Life Inventory Generic Core Scales and Neuromuscular Module.
Iannaccone ST, Hynan LS, Morton A, Buchanan R, Limbers CA, Varni JW Neuromuscular disorders : NMD 2009 Dec 19 12 805-12
Basal lamina strengthens cell membrane integrity via the laminin G domain-binding motif of alpha-dystroglycan.
Han R, Kanagawa M, Yoshida-Moriguchi T, Rader EP, Ng RA, Michele DE, Muirhead DE, Kunz S, Moore SA, Iannaccone ST, Miyake K, McNeil PL, Mayer U, Oldstone MB, Faulkner JA, Campbell KP Proceedings of the National Academy of Sciences of the United States of America 2009 Aug 106 31 12573-9
Novel subtype of congenital generalized lipodystrophy associated with muscular weakness and cervical spine instability.
Simha V, Agarwal AK, Aronin PA, Iannaccone ST, Garg A American journal of medical genetics. Part A 2008 Sep 146A 18 2318-26
Low bone mineral density in spinal muscular atrophy.
Khatri IA, Chaudhry US, Seikaly MG, Browne RH, Iannaccone ST Journal of clinical neuromuscular disease 2008 Sep 10 1 11-7
Dietary L-tyrosine supplementation in nemaline myopathy.
Ryan MM, Sy C, Rudge S, Ellaway C, Ketteridge D, Roddick LG, Iannaccone ST, Kornberg AJ, North KN Journal of child neurology 2008 Jun 23 6 609-13
Clinical trials in spinal muscular atrophy.
Kaufmann P, Iannaccone ST Physical medicine and rehabilitation clinics of North America 2008 Aug 19 3 653-60, xii
The test of infant motor performance: reliability in spinal muscular atrophy type I.
Finkel RS, Hynan LS, Glanzman AM, Owens H, Nelson L, Cone SR, Campbell SK, Iannaccone ST Pediatric physical therapy : the official publication of the Section on Pediatrics of the American Physical Therapy Association 2008 20 3 242-6
Iannaccone ST The Journal of pediatrics 2007 May 150 5 456-7
American College of Chest Physicians consensus statement on the respiratory and related management of patients with Duchenne muscular dystrophy undergoing anesthesia or sedation.
Birnkrant DJ, Panitch HB, Benditt JO, Boitano LJ, Carter ER, Cwik VA, Finder JD, Iannaccone ST, Jacobson LE, Kohn GL, Motoyama EK, Moxley RT, Schroth MK, Sharma GD, Sussman MD Chest 2007 Dec 132 6 1977-86
Modern management of spinal muscular atrophy.
Iannaccone ST Journal of child neurology 2007 Aug 22 8 974-8
Congenital bone fractures in spinal muscular atrophy: functional role for SMN protein in bone remodeling.
Shanmugarajan S, Swoboda KJ, Iannaccone ST, Ries WL, Maria BL, Reddy SV Journal of child neurology 2007 Aug 22 8 967-73
Spinal muscular atrophy: classification, diagnosis, management, pathogenesis, and future research directions.
Kostova FV, Williams VC, Heemskerk J, Iannaccone S, Didonato C, Swoboda K, Maria BL Journal of child neurology 2007 Aug 22 8 926-45
Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.
Lehtokari VL, Pelin K, Sandbacka M, Ranta S, Donner K, Muntoni F, Sewry C, Angelini C, Bushby K, Van den Bergh P, Iannaccone S, Laing NG, Wallgren-Pettersson C Human mutation 2006 Sep 27 9 946-56
Left ventricular function and response to enalapril in patients with duchenne muscular dystrophy during the second decade of life.
Ramaciotti C, Heistein LC, Coursey M, Lemler MS, Eapen RS, Iannaccone ST, Scott WA The American journal of cardiology 2006 Sep 98 6 825-7
The gross motor function measure is a valid and sensitive outcome measure for spinal muscular atrophy.
Nelson L, Owens H, Hynan LS, Iannaccone ST Neuromuscular disorders : NMD 2006 Jun 16 6 374-80
Feline spinal muscular atrophy.
Iannaccone ST Pediatric research 2005 Mar 57 3 322-3
CINRG randomized controlled trial of creatine and glutamine in Duchenne muscular dystrophy.
Escolar DM, Buyse G, Henricson E, Leshner R, Florence J, Mayhew J, Tesi-Rocha C, Gorni K, Pasquali L, Patel KM, McCarter R, Huang J, Mayhew T, Bertorini T, Carlo J, Connolly AM, Clemens PR, Goemans N, Iannaccone ST, Igarashi M, Nevo Y, Pestronk A, Subramony SH, Vedanarayanan VV, Wessel H Annals of neurology 2005 Jul 58 1 151-5
Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations.
Agrawal PB, Strickland CD, Midgett C, Morales A, Newburger DE, Poulos MA, Tomczak KK, Ryan MM, Iannaccone ST, Crawford TO, Laing NG, Beggs AH Annals of neurology 2004 Jul 56 1 86-96
Spinal muscular atrophy.
Iannaccone ST, Smith SA, Simard LR Current neurology and neuroscience reports 2004 Jan 4 1 74-80
Respiratory care of the patient with Duchenne muscular dystrophy: ATS consensus statement.
Finder JD, Birnkrant D, Carl J, Farber HJ, Gozal D, Iannaccone ST, Kovesi T, Kravitz RM, Panitch H, Schramm C, Schroth M, Sharma G, Sievers L, Silvestri JM, Sterni L American journal of respiratory and critical care medicine 2004 Aug 170 4 456-65
A phase 1 trial of riluzole in spinal muscular atrophy.
Russman BS, Iannaccone ST, Samaha FJ Archives of neurology 2003 Nov 60 11 1601-3
Postoperative malnutrition in Duchenne muscular dystrophy.
Iannaccone ST, Owens H, Scott J, Teitell B Journal of child neurology 2003 Jan 18 1 17-20
Reliability of 4 outcome measures in pediatric spinal muscular atrophy.
Iannaccone ST, Hynan LS Archives of neurology 2003 Aug 60 8 1130-6
Outcome measures for pediatric spinal muscular atrophy.
Iannaccone ST Archives of neurology 2002 Sep 59 9 1445-50
Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia.
Arikawa-Hirasawa E, Le AH, Nishino I, Nonaka I, Ho NC, Francomano CA, Govindraj P, Hassell JR, Devaney JM, Spranger J, Stevenson RE, Iannaccone S, Dalakas MC, Yamada Y American journal of human genetics 2002 May 70 5 1368-75
Assessment of cardiac function in adolescents with Duchenne muscular dystrophy: importance of neurohormones.
Ramaciotti C, Scott WA, Lemler MS, Haverland C, Iannaccone ST Journal of child neurology 2002 Mar 17 3 191-4
90th ENMC international workshop: European Spinal Muscular Atrophy Randomised Trial (EuroSMART) 9-10 February 2001, Naarden, The Netherlands.
Merlini L, Estournet-Mathiaud B, Iannaccone S, Melki J, Muntoni F, Rudnik-Schöneborn S, Topaloglu H, Vita G, Voit T Neuromuscular disorders : NMD 2002 Feb 12 2 201-10
Spinal muscular atrophies.
Iannaccone ST, Burghes A Advances in neurology 2002 88 83-98
Duchenne Muscular Dystrophy.
Iannaccone ST, Nanjiani Z Current treatment options in neurology 2001 Mar 3 2 105-117
NINDS Common Data Elements for Congenital Muscular Dystrophy Clinical Research: A National Institute for Neurological Disorders and Stroke Project.
Lawlor MW, Iannaccone ST, Mathews K, Muntoni F, Alai-Hansen S, Odenkirchen JC, S Feldman R Journal of neuromuscular diseases 2018 5 1 75-84
Placebo-controlled Phase 2 Trial of Drisapersen for Duchenne Muscular Dystrophy.
McDonald CM, Wong B, Flanigan KM, Wilson R, de Kimpe S, Lourbakos A, Lin Z, Campion G, Annals of clinical and translational neurology 2018 Aug 5 8 913-926
Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care.
Mercuri E, Finkel RS, Muntoni F, Wirth B, Montes J, Main M, Mazzone ES, Vitale M, Snyder B, Quijano-Roy S, Bertini E, Davis RH, Meyer OH, Simonds AK, Schroth MK, Graham RJ, Kirschner J, Iannaccone ST, Crawford TO, Woods S, Qian Y, Sejersen T Neuromuscular disorders : NMD 2017 Nov
Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics.
Finkel RS, Mercuri E, Meyer OH, Simonds AK, Schroth MK, Graham RJ, Kirschner J, Iannaccone ST, Crawford TO, Woods S, Muntoni F, Wirth B, Montes J, Main M, Mazzone ES, Vitale M, Snyder B, Quijano-Roy S, Bertini E, Davis RH, Qian Y, Sejersen T Neuromuscular disorders : NMD 2017 Nov
Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy.
Mercuri E, Darras BT, Chiriboga CA, Day JW, Campbell C, Connolly AM, Iannaccone ST, Kirschner J, Kuntz NL, Saito K, Shieh PB, Tulinius M, Mazzone ES, Montes J, Bishop KM, Yang Q, Foster R, Gheuens S, Bennett CF, Farwell W, Schneider E, De Vivo DC, Finkel RS The New England journal of medicine 2018 02 378 7 625-635
Congenital titinopathy: Comprehensive characterisation and pathogenic insights.
Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi HB, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG Annals of neurology 2018 Apr
Recruitment & retention program for the NeuroNEXT SMA Biomarker Study: Super Babies for SMA!
Bartlett A, Kolb SJ, Kingsley A, Swoboda KJ, Reyna SP, Sakonju A, Darras BT, Shell R, Kuntz N, Castro D, Iannaccone ST, Parsons J, Connolly AM, Chiriboga CA, McDonald C, Burnette WB, Werner K, Thangarajh M, Shieh PB, Finanger E, Coffey CS, Yankey JW, Cudkowicz ME, McGovern MM, McNeil DE, Arnold WD, Kissel JT Contemporary clinical trials communications 2018 Sep 11 113-119
- Natural History of Infantile-Onset Spinal Muscular Atrophy.
- Spinal Muscular Atrophy
- Neuromuscular diseases
- Duchenne Muscular Dystrophy