I strive to maintain enthusiasm, optimism, and rigorous science as I design and lead studies to translate the genetic origins of neuromuscular disease into effective treatments for the infants and children in my care.


Medical School

  • University of Athens Medical School , 1977 , Athens , Greece


  • University of Athens Hospital , 1979 , Athens , Greece


  • Nassau County Medical Center, Clinical Campus SUNY at Stony Brook , 1982 , Stony Brook , NY


  • Tufts Medical School, New England Medical Center , 1985 , Boston , MA


  • Yale University School of Medicine , 1988 , New Haven , CT

Philosophy of Care

During my childhood in Greece, my parents instilled in me intellectual curiosity, the ambition to excel, and personal values focused on service. My approach to care reflects my interest in the genetic basis of neurological disease and my desire to practice on the forefront of clinical care and research.

I was born and raised in Greece and was strongly influenced by a number of doctors in my family. One of my uncles would let me watch him treat patients and help him give immunizations in schools.

I earned my country's highest marks on nationwide tests to be admitted to medical school, and graduated from Athens University School of Medicine at the top of my class. But I became frustrated by the system that controlled access to further training in pediatrics (I was required to wait three to four years), so I came to the U.S. for my residency. I had planned to return to Greece, but stayed in the U.S. due to the enormous opportunities here to do research and care for patients at the highest possible level.

I am motivated to find cures for children with neuromuscular disorders. I have trained and published extensively as a basic scientist, but was not fulfilled by researching and diagnosing patients alone without helping to improve their lives and outcomes. As a result, I've become very active in clinical research and am excited to be practicing and researching at a time in the field when powerful new resources are at our disposal.


Dr. Darras serves as an expert for the Department of Neurology for Boston Children's Hospital Precision Medicine Service. For more information about the Precision Medicine Service please visit bostonchildrens.org/precisionmed.

I focus in my practice on treating children with neuromuscular diseases, which present as problems of motor development and function.

I am Associate neurologist-in-Chief at Boston Children's Hospital and hold the Joseph J. Volpe Chair in Neurology at Harvard Medical School. I am the Chief of the division of clinical neurology in the Department of Neurology at the hospital. For 11 years, I ran the hospital's neurology residency training program and I was twice voted teacher of the year by neurology residents.
My special focus is in the care of children with neuromuscular conditions originating from inherited or acquired conditions of the motor unit. These include patients with complex muscle diseases like muscular dystrophies and congenital or metabolic myopathies, neuromuscular transmission defects, neuropathies, motor neuronopathies, and also inflammatory muscle or nerve conditions. Further, I see patients with general neurological problems such seizures when I attend on the inpatient neurology services.
Following medical school in Greece and residencies in pediatrics and child neurology at the State University of New York at Stony Brook and Tufts Medical Center, respectively. I completed a post-doctoral fellowship at Yale in genetics, which gives me a unique lens through which I approach problems of childhood motor development.

When I was training in neurology, I gravitated toward neuromuscular cases. The fact that many have a genetic basis appealed to me. I felt that there was a higher probability of finding a treatment if we could understand the pathogenesis of the diseases.

At Boston Children's Hospital, I am proud to be involved with two innovative multi-disciplinary clinical programs. I direct the Neuromuscular Program, which provides diagnostic evaluation and therapeutic services for children with neuromuscular diseases and is one largest of its kind in the country; and the Spinal Muscular Atrophy (SMA) Clinical Research Program, which seeks to improve medical care of children with SMA and discover new treatments for this devastating motor neuron disease.

Through my clinical and research experience, as well as my hospital leadership roles, I have influenced care in the field of pediatric neuromuscular diseases both nationally and internationally.




  • American Board of Pediatrics, General Pediatrics
  • American Board of Psychiatry and Neurology, Child and Adolescent Neurology
  • American Board of Medical Genetics and Genomics, Clinical Genetics


Publications powered by Harvard Catalyst Profiles

  1. Yeo CJJ, Darras BT. Yeo and Darras: Extraneuronal Phenotypes of Spinal Muscular Atrophy. Ann Neurol. 2021 Jan; 89(1):24-26. View abstract
  2. Rivera SR, Jhamb SK, Abdel-Hamid HZ, Acsadi G, Brandsema J, Ciafaloni E, Darras BT, Iannaccone ST, Konersman CG, Kuntz NL, McDonald CM, Parsons JA, Tesi Rocha C, Zaidman CM, Butterfield RJ, Connolly AM, Mathews KD. Medical management of muscle weakness in Duchenne muscular dystrophy. PLoS One. 2020; 15(10):e0240687. View abstract
  3. Trucco F, Ridout D, Scoto M, Coratti G, Main ML, Lofra RM, Mayhew AG, Montes J, Pane M, Sansone V, Albamonte E, D'Amico A, Bertini E, Messina S, Bruno C, Parasuraman D, Childs AM, Gowda V, Willis T, Ong M, Marini-Bettolo C, De Vivo DC, Darras BT, Day J, Kichula EA, Mayer OH, Navas Nazario AA, Finkel RS, Mercuri E, Muntoni F. Respiratory trajectories in type 2 and non-ambulant 3 Spinal muscular atrophy in the iSMAC cohort study. Neurology. 2020 Oct 16. View abstract
  4. Coratti G, Messina S, Lucibello S, Pera MC, Montes J, Pasternak A, Bovis F, Exposito Escudero J, Mazzone ES, Mayhew A, Glanzman AM, Young SD, Salazar R, Duong T, Muni Lofra R, De Sanctis R, Carnicella S, Milev E, Civitello M, Pane M, Scoto M, Bettolo CM, Antonaci L, Frongia A, Sframeli M, Vita GL, D'Amico A, Van Den Hauwe M, Albamonte E, Goemans N, Darras BT, Bertini E, Sansone V, Day J, Nascimento Osorio A, Bruno C, Muntoni F, De Vivo DC, Finkel RS, Mercuri E. Clinical Variability in Spinal Muscular Atrophy Type III. Ann Neurol. 2020 12; 88(6):1109-1117. View abstract
  5. Ebrahimi-Fakhari D, Teinert J, Behne R, Wimmer M, D'Amore A, Eberhardt K, Brechmann B, Ziegler M, Jensen DM, Nagabhyrava P, Geisel G, Carmody E, Shamshad U, Dies KA, Yuskaitis CJ, Salussolia CL, Ebrahimi-Fakhari D, Pearson TS, Saffari A, Ziegler A, Kölker S, Volkmann J, Wiesener A, Bearden DR, Lakhani S, Segal D, Udwadia-Hegde A, Martinuzzi A, Hirst J, Perlman S, Takiyama Y, Xiromerisiou G, Vill K, Walker WO, Shukla A, Dubey Gupta R, Dahl N, Aksoy A, Verhelst H, Delgado MR, Kremlikova Pourova R, Sadek AA, Elkhateeb NM, Blumkin L, Brea-Fernández AJ, Dacruz-Álvarez D, Smol T, Ghoumid J, Miguel D, Heine C, Schlump JU, Langen H, Baets J, Bulk S, Darvish H, Bakhtiari S, Kruer MC, Lim-Melia E, Aydinli N, Alanay Y, El-Rashidy O, Nampoothiri S, Patel C, Beetz C, Bauer P, Yoon G, Guillot M, Miller SP, Bourinaris T, Houlden H, Robelin L, Anheim M, Alamri AS, Mahmoud AAH, Inaloo S, Habibzadeh P, Faghihi MA, Jansen AC, Brock S, Roubertie A, Darras BT, Agrawal PB, Santorelli FM, Gleeson J, Zaki MS, Sheikh SI, Bennett JT, Sahin M. Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia. Brain. 2020 Oct 01; 143(10):2929-2944. View abstract
  6. Campbell C, Barohn RJ, Bertini E, Chabrol B, Comi GP, Darras BT, Finkel RS, Flanigan KM, Goemans N, Iannaccone ST, Jones KJ, Kirschner J, Mah JK, Mathews KD, McDonald CM, Mercuri E, Nevo Y, Péréon Y, Renfroe JB, Ryan MM, Sampson JB, Schara U, Sejersen T, Selby K, Tulinius M, Vílchez JJ, Voit T, Wei LJ, Wong BL, Elfring G, Souza M, McIntosh J, Trifillis P, Peltz SW, Muntoni F. Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy. J Comp Eff Res. 2020 Oct; 9(14):973-984. View abstract
  7. Coratti G, Lucibello S, Pera MC, Duong T, Muni Lofra R, Civitello M, D'Amico A, Goemans N, Darras BT, Bruno C, Sansone VA, Day J, Nascimento Osorio A, Muntoni F, Montes J, Sframeli M, Finkel R, Mercuri E. Gain and loss of abilities in type II SMA: A 12-month natural history study. Neuromuscul Disord. 2020 09; 30(9):765-771. View abstract
  8. Cudkowicz M, Chase MK, Coffey CS, Ecklund DJ, Thornell BJ, Lungu C, Mahoney K, Gutmann L, Shefner JM, Staley KJ, Bosch M, Foster E, Long JD, Bayman EO, Torner J, Yankey J, Peters R, Huff T, Conwit RA, Shinnar S, Patch D, Darras BT, Ellis A, Packer RJ, Marder KS, Chiriboga CA, Henchcliffe C, Moran JA, Nikolov B, Factor SA, Seeley C, Greenberg SM, Amato AA, DeGregorio S, Simuni T, Ward T, Kissel JT, Kolb SJ, Bartlett A, Quinn JF, Keith K, Levine SR, Gilles N, Coyle PK, Lamb J, Wolfe GI, Crumlish A, Mejico L, Iqbal MM, Bowen JD, Tongco C, Nabors LB, Bashir K, Benge M, McDonald CM, Henricson EK, Oskarsson B, Dobkin BH, Canamar C, Glauser TA, Woo D, Molloy A, Clark P, Vollmer TL, Stein AJ, Barohn RJ, Dimachkie MM, Le Pichon JB, Benatar MG, Steele J, Wechsler L, Clemens PR, Amity C, Holloway RG, Annis C, Goldberg MP, Andersen M, Iannaccone ST, Smith AG, Singleton JR, Doudova M, Haley EC, Quigg MS, Lowenhaupt S, Malow BA, Adkins K, Clifford DB, Teshome MA, Connolly N. Seven-Year Experience From the National Institute of Neurological Disorders and Stroke-Supported Network for Excellence in Neuroscience Clinical Trials. JAMA Neurol. 2020 Jun 01; 77(6):755-763. View abstract
  9. Mercuri E, Lucibello S, Perulli M, Coratti G, de Sanctis R, Pera MC, Pane M, Montes J, de Vivo DC, Darras BT, Kolb SJ, Finkel RS. Longitudinal natural history of type I spinal muscular atrophy: a critical review. Orphanet J Rare Dis. 2020 04 05; 15(1):84. View abstract
  10. Yeo CJJ, Darras BT. Overturning the Paradigm of Spinal Muscular Atrophy as Just a Motor Neuron Disease. Pediatr Neurol. 2020 08; 109:12-19. View abstract
  11. Harrar DB, Darras BT, Ghosh PS. Response to "The Spectrum of Neuromuscular Disorders Admitted to a Pediatric Intensive Care Unit Is Broader Than Anticipated". J Child Neurol. 2020 03; 35(4):302-303. View abstract
  12. Chrzanowski SM, Darras BT, Rutkove SB. The Value of Imaging and Composition-Based Biomarkers in Duchenne Muscular Dystrophy Clinical Trials. Neurotherapeutics. 2020 01; 17(1):142-152. View abstract
  13. Glascock J, Sampson J, Connolly AM, Darras BT, Day JW, Finkel R, Howell RR, Klinger KW, Kuntz N, Prior T, Shieh PB, Crawford TO, Kerr D, Jarecki J. Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2. J Neuromuscul Dis. 2020; 7(2):97-100. View abstract
  14. Dunaway Young S, Montes J, Salazar R, Glanzman AM, Pasternak A, Mirek E, Martens W, Finkel RS, Darras BT, De Vivo DC. Scoliosis Surgery Significantly Impacts Motor Abilities in Higher-functioning Individuals with Spinal Muscular Atrophy1. J Neuromuscul Dis. 2020; 7(2):183-192. View abstract
  15. Leitner ML, Kapur K, Darras BT, Yang M, Wong B, Dalle Pazze L, Florence J, Buck M, Freedman L, Bohorquez J, Rutkove S, Zaidman C. Electrical impedance myography for reducing sample size in Duchenne muscular dystrophy trials. Ann Clin Transl Neurol. 2020 01; 7(1):4-14. View abstract
  16. Häusler MG, Begemann M, Lidov HG, Kurth I, Darras BT, Elbracht M. A novel homozygous splice-site mutation in the SPTBN4 gene causes axonal neuropathy without intellectual disability. Eur J Med Genet. 2020 Apr; 63(4):103826. View abstract
  17. McDonald CM, Sajeev G, Yao Z, McDonnell E, Elfring G, Souza M, Peltz SW, Darras BT, Shieh PB, Cox DA, Landry J, Signorovitch J. Deflazacort vs prednisone treatment for Duchenne muscular dystrophy: A meta-analysis of disease progression rates in recent multicenter clinical trials. Muscle Nerve. 2020 01; 61(1):26-35. View abstract
  18. Harrar DB, Darras BT, Ghosh PS. Acute Neuromuscular Disorders in the Pediatric Intensive Care Unit. J Child Neurol. 2020 01; 35(1):17-24. View abstract
  19. Darras BT, Farrar MA, Mercuri E, Finkel RS, Foster R, Hughes SG, Bhan I, Farwell W, Gheuens S. An Integrated Safety Analysis of Infants and Children with Symptomatic Spinal Muscular Atrophy (SMA) Treated with Nusinersen in Seven Clinical Trials. CNS Drugs. 2019 09; 33(9):919-932. View abstract
  20. Montes J, Dunaway Young S, Mazzone ES, Pasternak A, Glanzman AM, Finkel RS, Darras BT, Muntoni F, Mercuri E, De Vivo DC, Bishop KM, Schneider E, Bennett CF, Foster R, Farwell W. Nusinersen improves walking distance and reduces fatigue in later-onset spinal muscular atrophy. Muscle Nerve. 2019 10; 60(4):409-414. View abstract
  21. Antoury L, Hu N, Darras B, Wheeler TM. Urine mRNA to identify a novel pseudoexon causing dystrophinopathy. Ann Clin Transl Neurol. 2019 Jun; 6(6):1106-1112. View abstract
  22. Darras BT, Chiriboga CA, Iannaccone ST, Swoboda KJ, Montes J, Mignon L, Xia S, Bennett CF, Bishop KM, Shefner JM, Green AM, Sun P, Bhan I, Gheuens S, Schneider E, Farwell W, De Vivo DC. Nusinersen in later-onset spinal muscular atrophy: Long-term results from the phase 1/2 studies. Neurology. 2019 05 21; 92(21):e2492-e2506. View abstract
  23. Darras BT, Crawford TO, Finkel RS, Mercuri E, De Vivo DC, Oskoui M, Tizzano EF, Ryan MM, Muntoni F, Zhao G, Staropoli J, McCampbell A, Petrillo M, Stebbins C, Fradette S, Farwell W, Sumner CJ. Neurofilament as a potential biomarker for spinal muscular atrophy. Ann Clin Transl Neurol. 2019 May; 6(5):932-944. View abstract
  24. Annoussamy M, Lilien C, Gidaro T, Gargaun E, Chê V, Schara U, Gangfuß A, D'Amico A, Dowling JJ, Darras BT, Daron A, Hernandez A, de Lattre C, Arnal JM, Mayer M, Cuisset JM, Vuillerot C, Fontaine S, Bellance R, Biancalana V, Buj-Bello A, Hogrel JY, Landy H, Servais L. X-linked myotubular myopathy: A prospective international natural history study. Neurology. 2019 04 16; 92(16):e1852-e1867. View abstract
  25. Lipnick SL, Agniel DM, Aggarwal R, Makhortova NR, Finlayson SG, Brocato A, Palmer N, Darras BT, Kohane I, Rubin LL. Systemic nature of spinal muscular atrophy revealed by studying insurance claims. PLoS One. 2019; 14(3):e0213680. View abstract
  26. Velilla J, Marchetti MM, Toth-Petroczy A, Grosgogeat C, Bennett AH, Carmichael N, Estrella E, Darras BT, Frank NY, Krier J, Gaudet R, Gupta VA. Homozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposis. Neurol Genet. 2019 Apr; 5(2):e312. View abstract
  27. Roy B, Darras BT, Zaidman CM, Wu JS, Kapur K, Rutkove SB. Exploring the relationship between electrical impedance myography and quantitative ultrasound parameters in Duchenne muscular dystrophy. Clin Neurophysiol. 2019 04; 130(4):515-520. View abstract
  28. Pera MC, Coratti G, Mazzone ES, Montes J, Scoto M, De Sanctis R, Main M, Mayhew A, Muni Lofra R, Dunaway Young S, Glanzman AM, Duong T, Pasternak A, Ramsey D, Darras B, Day JW, Finkel RS, De Vivo DC, Sormani MP, Bovis F, Straub V, Muntoni F, Pane M, Mercuri E. Revised upper limb module for spinal muscular atrophy: 12?month changes. Muscle Nerve. 2019 04; 59(4):426-430. View abstract
  29. Bruels CC, Li C, Mendoza T, Khan J, Reddy HM, Estrella EA, Ghosh PS, Darras BT, Lidov HGW, Pacak CA, Kunkel LM, Modave F, Draper I, Kang PB. Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites. Mol Genet Genomic Med. 2019 03; 7(3):e552. View abstract
  30. Kapur K, Sanchez B, Pacheck A, Darras B, Rutkove SB, Selukar R. Functional Mixed-Effects Modeling of Longitudinal Duchenne Muscular Dystrophy Electrical Impedance Myography Data Using State-Space Approach. IEEE Trans Biomed Eng. 2019 06; 66(6):1761-1768. View abstract
  31. Shieh PB, Mcintosh J, Jin F, Souza M, Elfring G, Narayanan S, Trifillis P, Peltz SW, Mcdonald CM, Darras BT. Deflazacort versus prednisone/prednisolone for maintaining motor function and delaying loss of ambulation: A post HOC analysis from the ACT DMD trial. Muscle Nerve. 2018 11; 58(5):639-645. View abstract
  32. Antoury L, Hu N, Balaj L, Das S, Georghiou S, Darras B, Clark T, Breakefield XO, Wheeler TM. Analysis of extracellular mRNA in human urine reveals splice variant biomarkers of muscular dystrophies. Nat Commun. 2018 09 25; 9(1):3906. View abstract
  33. Darras BT, De Vivo DC. Precious SMA natural history data: A benchmark to measure future treatment successes. Neurology. 2018 08 21; 91(8):337-339. View abstract
  34. 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. Recruitment & retention program for the NeuroNEXT SMA Biomarker Study: Super Babies for SMA! Contemp Clin Trials Commun. 2018 Sep; 11:113-119. View abstract
  35. Salazar R, Montes J, Dunaway Young S, McDermott MP, Martens W, Pasternak A, Quigley J, Mirek E, Glanzman AM, Civitello M, Gee R, Duong T, Mazzone ES, Main M, Mayhew A, Ramsey D, Muni Lofra R, Coratti G, Fanelli L, De Sanctis R, Forcina N, Chiriboga C, Darras BT, Tennekoon GI, Scoto M, Day JW, Finkel R, Muntoni F, Mercuri E, De Vivo DC. Quantitative Evaluation of Lower Extremity Joint Contractures in Spinal Muscular Atrophy: Implications for Motor Function. Pediatr Phys Ther. 2018 07; 30(3):209-215. View abstract
  36. Montes J, McDermott MP, Mirek E, Mazzone ES, Main M, Glanzman AM, Duong T, Young SD, Salazar R, Pasternak A, Gee R, De Sanctis R, Coratti G, Forcina N, Fanelli L, Ramsey D, Milev E, Civitello M, Pane M, Pera MC, Scoto M, Day JW, Tennekoon G, Finkel RS, Darras BT, Muntoni F, De Vivo DC, Mercuri E. Ambulatory function in spinal muscular atrophy: Age-related patterns of progression. PLoS One. 2018; 13(6):e0199657. View abstract
  37. Crow RA, Hart KA, McDermott MP, Tawil R, Martens WB, Herr BE, McColl E, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Hirtz D, Lochmuller H, Straub V, Ciafaloni E, Shieh PB, Spinty S, Childs AM, Manzur AY, Morandi L, Butterfield RJ, Horrocks I, Roper H, Flanigan KM, Kuntz NL, Mah JK, Morrison L, Darras BT, von der Hagen M, Schara U, Wilichowski E, Mongini T, McDonald CM, Vita G, Barohn RJ, Finkel RS, Wicklund M, McMillan HJ, Hughes I, Pegoraro E, Bryan Burnette W, Howard JF, Thangarajh M, Campbell C, Griggs RC, Bushby K, Guglieri M. A checklist for clinical trials in rare disease: obstacles and anticipatory actions-lessons learned from the FOR-DMD trial. Trials. 2018 May 10; 19(1):291. View abstract
  38. Al-Ghamdi F, Darras BT, Ghosh PS. Spectrum of Neuromuscular Disorders With HyperCKemia From a Tertiary Care Pediatric Neuromuscular Center. J Child Neurol. 2018 05; 33(6):389-396. View abstract
  39. Martinez EE, Quinn N, Arouchon K, Anzaldi R, Tarrant S, Ma NS, Griffin J, Darras BT, Graham RJ, Mehta NM. Comprehensive nutritional and metabolic assessment in patients with spinal muscular atrophy: Opportunity for an individualized approach. Neuromuscul Disord. 2018 06; 28(6):512-519. View abstract
  40. Darras BT, Mammas IN, Spandidos DA. Spinal muscular atrophy, pediatric virology and gene therapy: A challenge of modern weakness and hope. Exp Ther Med. 2018 Apr; 15(4):3671-3672. View abstract
  41. 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. Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy. N Engl J Med. 2018 02 15; 378(7):625-635. View abstract
  42. Karakis I, Georghiou S, Jones HR, Darras BT, Kang PB. Electrophysiologic Features of Radial Neuropathy in Childhood and Adolescence. Pediatr Neurol. 2018 04; 81:14-18. View abstract
  43. Glascock J, Sampson J, Haidet-Phillips A, Connolly A, Darras B, Day J, Finkel R, Howell RR, Klinger K, Kuntz N, Prior T, Shieh PB, Crawford TO, Kerr D, Jarecki J. Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening. J Neuromuscul Dis. 2018; 5(2):145-158. View abstract
  44. Glanzman AM, Mazzone ES, Young SD, Gee R, Rose K, Mayhew A, Nelson L, Yun C, Alexander K, Darras BT, Zolkipli-Cunningham Z, Tennekoon G, Day JW, Finkel RS, Mercuri E, De Vivo DC, Baldwin R, Bishop KM, Montes J. Evaluator Training and Reliability for SMA Global Nusinersen Trials1. J Neuromuscul Dis. 2018; 5(2):159-166. View abstract
  45. 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. Natural history of infantile-onset spinal muscular atrophy. Ann Neurol. 2017 Dec; 82(6):883-891. View abstract
  46. Rutkove SB, Darras BT. NeuroNEXT is at your service. Ann Neurol. 2017 12; 82(6):857-858. View abstract
  47. Ebrahimi-Fakhari D, Cheng C, Dies K, Diplock A, Pier DB, Ryan CS, Lanpher BC, Hirst J, Chung WK, Sahin M, Rosser E, Darras B, Bennett JT. Clinical and genetic characterization of AP4B1-associated SPG47. . 2018 02; 176(2):311-318. View abstract
  48. 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. Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy. N Engl J Med. 2017 11 02; 377(18):1723-1732. View abstract
  49. Pigula-Tresansky AJ, Wu JS, Kapur K, Darras BT, Rutkove SB, Anthony BW. Muscle compression improves reliability of ultrasound echo intensity. Muscle Nerve. 2018 03; 57(3):423-429. View abstract
  50. Finkel RS, Darras BT. X-linked myotubular myopathy: Living longer and awaiting treatment. Neurology. 2017 09 26; 89(13):1316-1317. View abstract
  51. Rutkove SB, Kapur K, Zaidman CM, Wu JS, Pasternak A, Madabusi L, Yim S, Pacheck A, Szelag H, Harrington T, Darras BT. Electrical impedance myography for assessment of Duchenne muscular dystrophy. Ann Neurol. 2017 May; 81(5):622-632. View abstract
  52. Zaidman CM, Wu JS, Kapur K, Pasternak A, Madabusi L, Yim S, Pacheck A, Szelag H, Harrington T, Darras BT, Rutkove SB. Quantitative muscle ultrasound detects disease progression in Duchenne muscular dystrophy. Ann Neurol. 2017 May; 81(5):633-640. View abstract
  53. Guglieri M, Bushby K, McDermott MP, Hart KA, Tawil R, Martens WB, Herr BE, McColl E, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Willis T, Hirtz D, Shieh PB, Straub V, Childs AM, Ciafaloni E, Butterfield RJ, Horrocks I, Spinty S, Flanigan KM, Kuntz NL, Baranello G, Roper H, Morrison L, Mah JK, Manzur AY, McDonald CM, Schara U, von der Hagen M, Barohn RJ, Campbell C, Darras BT, Finkel RS, Vita G, Hughes I, Mongini T, Pegoraro E, Wicklund M, Wilichowski E, Bryan Burnette W, Howard JF, McMillan HJ, Thangarajh M, Griggs RC. Developing standardized corticosteroid treatment for Duchenne muscular dystrophy. Contemp Clin Trials. 2017 07; 58:34-39. View abstract
  54. Pera MC, Coratti G, Forcina N, Mazzone ES, Scoto M, Montes J, Pasternak A, Mayhew A, Messina S, Sframeli M, Main M, Lofra RM, Duong T, Ramsey D, Dunaway S, Salazar R, Fanelli L, Civitello M, de Sanctis R, Antonaci L, Lapenta L, Lucibello S, Pane M, Day J, Darras BT, De Vivo DC, Muntoni F, Finkel R, Mercuri E. Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy. BMC Neurol. 2017 Feb 23; 17(1):39. View abstract
  55. Ramsey D, Scoto M, Mayhew A, Main M, Mazzone ES, Montes J, de Sanctis R, Dunaway Young S, Salazar R, Glanzman AM, Pasternak A, Quigley J, Mirek E, Duong T, Gee R, Civitello M, Tennekoon G, Pane M, Pera MC, Bushby K, Day J, Darras BT, De Vivo D, Finkel R, Mercuri E, Muntoni F. Revised Hammersmith Scale for spinal muscular atrophy: A SMA specific clinical outcome assessment tool. PLoS One. 2017; 12(2):e0172346. View abstract
  56. Karakis I, Liew W, Fournier HS, Jones HR, Darras BT, Kang PB. Electrophysiologic features of ulnar neuropathy in childhood and adolescence. Clin Neurophysiol. 2017 05; 128(5):751-755. View abstract
  57. Al-Ghamdi F, Darras BT, Ghosh PS. Spectrum of Nondystrophic Skeletal Muscle Channelopathies in Children. Pediatr Neurol. 2017 05; 70:26-33. View abstract
  58. Mazzone ES, Mayhew A, Montes J, Ramsey D, Fanelli L, Young SD, Salazar R, De Sanctis R, Pasternak A, Glanzman A, Coratti G, Civitello M, Forcina N, Gee R, Duong T, Pane M, Scoto M, Pera MC, Messina S, Tennekoon G, Day JW, Darras BT, De Vivo DC, Finkel R, Muntoni F, Mercuri E. Revised upper limb module for spinal muscular atrophy: Development of a new module. Muscle Nerve. 2017 06; 55(6):869-874. View abstract
  59. Mehta P, Küspert M, Bale T, Brownstein CA, Towne MC, De Girolami U, Shi J, Beggs AH, Darras BT, Wegner M, Piao X, Agrawal PB. Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. Muscle Nerve. 2017 05; 55(5):761-765. View abstract
  60. Karakis I, Khoshnoodi M, Liew W, Nguyen ES, Jones HR, Darras BT, Kang PB. Electrophysiologic features of fibular neuropathy in childhood and adolescence. Muscle Nerve. 2017 05; 55(5):693-697. View abstract
  61. Rutkove SB, Wu JS, Zaidman C, Kapur K, Yim S, Pasternak A, Madabusi L, Szelag H, Harrington T, Li J, Pacheck A, Darras BT. Loss of electrical anisotropy is an unrecognized feature of dystrophic muscle that may serve as a convenient index of disease status. Clin Neurophysiol. 2016 Dec; 127(12):3546-3551. View abstract
  62. Pasternak A, Sideridis G, Fragala-Pinkham M, Glanzman AM, Montes J, Dunaway S, Salazar R, Quigley J, Pandya S, O'Riley S, Greenwood J, Chiriboga C, Finkel R, Tennekoon G, Martens WB, McDermott MP, Fournier HS, Madabusi L, Harrington T, Cruz RE, LaMarca NM, Videon NM, Vivo DC, Darras BT. Rasch analysis of the Pediatric Evaluation of Disability Inventory-computer adaptive test (PEDI-CAT) item bank for children and young adults with spinal muscular atrophy. Muscle Nerve. 2016 12; 54(6):1097-1107. View abstract
  63. Reddy HM, Cho KA, Lek M, Estrella E, Valkanas E, Jones MD, Mitsuhashi S, Darras BT, Amato AA, Lidov HG, Brownstein CA, Margulies DM, Yu TW, Salih MA, Kunkel LM, MacArthur DG, Kang PB. The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. J Hum Genet. 2017 Feb; 62(2):243-252. View abstract
  64. De Sanctis R, Coratti G, Pasternak A, Montes J, Pane M, Mazzone ES, Young SD, Salazar R, Quigley J, Pera MC, Antonaci L, Lapenta L, Glanzman AM, Tiziano D, Muntoni F, Darras BT, De Vivo DC, Finkel R, Mercuri E. Developmental milestones in type I spinal muscular atrophy. Neuromuscul Disord. 2016 11; 26(11):754-759. View abstract
  65. Liew WK, Pacak CA, Visyak N, Darras BT, Bousvaros A, Kang PB. Longitudinal Patterns of Thalidomide Neuropathy in Children and Adolescents. J Pediatr. 2016 Nov; 178:227-232. View abstract
  66. Kim J, Liao YH, Ionita C, Bale AE, Darras B, Acsadi G. Mitochondrial Membrane Protein-Associated Neurodegeneration Mimicking Juvenile Amyotrophic Lateral Sclerosis. Pediatr Neurol. 2016 11; 64:83-86. View abstract
  67. Pigula AJ, Wu JS, Gilbertson MW, Darras BT, Rutkove SB, Anthony BW. Force-controlled ultrasound to measure passive mechanical properties of muscle in Duchenne muscular dystrophy. Annu Int Conf IEEE Eng Med Biol Soc. 2016 Aug; 2016:2865-2868. View abstract
  68. Koppaka S, Shklyar I, Rutkove SB, Darras BT, Anthony BW, Zaidman CM, Wu JS. Quantitative Ultrasound Assessment of Duchenne Muscular Dystrophy Using Edge Detection Analysis. J Ultrasound Med. 2016 Sep; 35(9):1889-97. View abstract
  69. Connolly AM, Florence JM, Zaidman CM, Golumbek PT, Mendell JR, Flanigan KM, Karachunski PI, Day JW, McDonald CM, Darras BT, Kang PB, Siener CA, Gadeken RK, Anand P, Schierbecker JR, Malkus EC, Lowes LP, Alfano LN, Johnson L, Nicorici A, Kelecic JM, Quigley J, Pasternak AE, Miller JP. Clinical trial readiness in non-ambulatory boys and men with duchenne muscular dystrophy: MDA-DMD network follow-up. Muscle Nerve. 2016 10; 54(4):681-9. View abstract
  70. Chiriboga CA, Swoboda KJ, Darras BT, Iannaccone ST, Montes J, De Vivo DC, Norris DA, Bennett CF, Bishop KM. Results from a phase 1 study of nusinersen (ISIS-SMN(Rx)) in children with spinal muscular atrophy. Neurology. 2016 Mar 08; 86(10):890-7. View abstract
  71. 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. Baseline results of the NeuroNEXT spinal muscular atrophy infant biomarker study. Ann Clin Transl Neurol. 2016 02; 3(2):132-45. View abstract
  72. Dunaway S, Montes J, McDermott MP, Martens W, Neisen A, Glanzman AM, Pasternak A, Riley S, Sproule D, Chiriboga C, Finkel R, Tennekoon G, Darras B, De Vivo D, Pandya S. Physical therapy services received by individuals with spinal muscular atrophy (SMA). J Pediatr Rehabil Med. 2016; 9(1):35-44. View abstract
  73. Mercuri E, Finkel R, Montes J, Mazzone ES, Sormani MP, Main M, Ramsey D, Mayhew A, Glanzman AM, Dunaway S, Salazar R, Pasternak A, Quigley J, Pane M, Pera MC, Scoto M, Messina S, Sframeli M, Vita GL, D'Amico A, van den Hauwe M, Sivo S, Goemans N, Kaufmann P, Darras BT, Bertini E, Muntoni F, De Vivo DC. Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials. Neuromuscul Disord. 2016 Feb; 26(2):126-31. View abstract
  74. Montes J, Glanzman AM, Mazzone ES, Martens WB, Dunaway S, Pasternak A, Riley SO, Quigley J, Pandya S, De Vivo DC, Kaufmann P, Chiriboga CA, Finkel RS, Tennekoon GI, Darras BT, Pane M, Mercuri E, Mcdermott MP. Spinal muscular atrophy functional composite score: A functional measure in spinal muscular atrophy. Muscle Nerve. 2015 Dec; 52(6):942-7. View abstract
  75. Brandsema JF, Darras BT. Dystrophinopathies. Semin Neurol. 2015 Aug; 35(4):369-84. View abstract
  76. Mazzone E, Montes J, Main M, Mayhew A, Ramsey D, Glanzman AM, Dunaway S, Salazar R, Pasternak A, Quigley J, Pane M, Pera MC, Scoto M, Messina S, Sframeli M, D'amico A, Van Den Hauwe M, Sivo S, Goemans N, Darras BT, Kaufmann P, Bertini E, De Vivo DC, Muntoni F, Finkel R, Mercuri E. Old measures and new scores in spinal muscular atrophy patients. Muscle Nerve. 2015 Sep; 52(3):435-7. View abstract
  77. Darras BT. Spinal muscular atrophies. Pediatr Clin North Am. 2015 Jun; 62(3):743-66. View abstract
  78. Connolly AM, Malkus EC, Mendell JR, Flanigan KM, Miller JP, Schierbecker JR, Siener CA, Golumbek PT, Zaidman CM, Mcdonald CM, Johnson L, Nicorici A, Karachunski PI, Day JW, Kelecic JM, Lowes LP, Alfano LN, Darras BT, Kang PB, Quigley J, Pasternak AE, Florence JM. Outcome reliability in non-ambulatory boys/men with Duchenne muscular dystrophy. Muscle Nerve. 2015 Apr; 51(4):522-32. View abstract
  79. Al-Zaidy SA, Malik V, Kneile K, Rosales XQ, Gomez AM, Lewis S, Hashimoto S, Gastier-Foster J, Kang P, Darras B, Kunkel L, Carlo J, Sahenk Z, Moore SA, Pyatt R, Mendell JR. A slowly progressive form of limb-girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics. Mol Genet Genomic Med. 2015 Mar; 3(2):92-8. View abstract
  80. Shklyar I, Geisbush TR, Mijialovic AS, Pasternak A, Darras BT, Wu JS, Rutkove SB, Zaidman CM. Quantitative muscle ultrasound in Duchenne muscular dystrophy: a comparison of techniques. Muscle Nerve. 2015 Feb; 51(2):207-13. View abstract
  81. Geisbush TR, Visyak N, Madabusi L, Rutkove SB, Darras BT. Inter-session reliability of electrical impedance myography in children in a clinical trial setting. Clin Neurophysiol. 2015 Sep; 126(9):1790-6. View abstract
  82. Bertini E, Darras BT. Congenital myopathies: Rebuilding the natural history, one gene at a time. Neurology. 2015 Jan 06; 84(1):15-6. View abstract
  83. Shklyar I, Pasternak A, Kapur K, Darras BT, Rutkove SB. Composite biomarkers for assessing Duchenne muscular dystrophy: an initial assessment. Pediatr Neurol. 2015 Feb; 52(2):202-5. View abstract
  84. Kang PB, Gooch CL, McDermott MP, Darras BT, Finkel RS, Yang ML, Sproule DM, Chung WK, Kaufmann P, De Vivo DC. Reply: To PMID 23893312. Muscle Nerve. 2014 Sep; 50(3):458-9. View abstract
  85. Finkel RS, McDermott MP, Kaufmann P, Darras BT, Chung WK, Sproule DM, Kang PB, Foley AR, Yang ML, Martens WB, Oskoui M, Glanzman AM, Flickinger J, Montes J, Dunaway S, O'Hagen J, Quigley J, Riley S, Benton M, Ryan PA, Montgomery M, Marra J, Gooch C, De Vivo DC. Observational study of spinal muscular atrophy type I and implications for clinical trials. Neurology. 2014 Aug 26; 83(9):810-7. View abstract
  86. Schwartz S, Geisbush TR, Mijailovic A, Pasternak A, Darras BT, Rutkove SB. Optimizing electrical impedance myography measurements by using a multifrequency ratio: a study in Duchenne muscular dystrophy. Clin Neurophysiol. 2015 Jan; 126(1):202-8. View abstract
  87. Zaidman CM, Wu JS, Wilder S, Darras BT, Rutkove SB. Minimal training is required to reliably perform quantitative ultrasound of muscle. Muscle Nerve. 2014 Jul; 50(1):124-8. View abstract
  88. Karakis I, Liew W, Darras BT, Jones HR, Kang PB. Referral and diagnostic trends in pediatric electromyography in the molecular era. Muscle Nerve. 2014 Aug; 50(2):244-9. View abstract
  89. Kang PB, Gooch CL, McDermott MP, Darras BT, Finkel RS, Yang ML, Sproule DM, Chung WK, Kaufmann P, de Vivo DC. The motor neuron response to SMN1 deficiency in spinal muscular atrophy. Muscle Nerve. 2014 May; 49(5):636-44. View abstract
  90. Liew WK, Powell CA, Sloan SR, Shamberger RC, Weldon CB, Darras BT, Kang PB. Comparison of plasmapheresis and intravenous immunoglobulin as maintenance therapies for juvenile myasthenia gravis. JAMA Neurol. 2014 May; 71(5):575-80. View abstract
  91. Rutkove SB, Geisbush TR, Mijailovic A, Shklyar I, Pasternak A, Visyak N, Wu JS, Zaidman C, Darras BT. Cross-sectional evaluation of electrical impedance myography and quantitative ultrasound for the assessment of Duchenne muscular dystrophy in a clinical trial setting. Pediatr Neurol. 2014 Jul; 51(1):88-92. View abstract
  92. Connolly AM, Florence JM, Cradock MM, Eagle M, Flanigan KM, McDonald CM, Karachunski PI, Darras BT, Bushby K, Malkus EC, Golumbek PT, Zaidman CM, Miller JP, Mendell JR. One year outcome of boys with Duchenne muscular dystrophy using the Bayley-III scales of infant and toddler development. Pediatr Neurol. 2014 Jun; 50(6):557-63. View abstract
  93. Shapiro F, Zurakowski D, Bui T, Darras BT. Progression of spinal deformity in wheelchair-dependent patients with Duchenne muscular dystrophy who are not treated with steroids: coronal plane (scoliosis) and sagittal plane (kyphosis, lordosis) deformity. Bone Joint J. 2014 Jan; 96-B(1):100-5. View abstract
  94. Allen HD, Flanigan KM, Thrush PT, Dvorchik I, Yin H, Canter C, Connolly AM, Parrish M, McDonald CM, Braunlin E, Colan SD, Day J, Darras B, Mendell JR. A randomized, double-blind trial of lisinopril and losartan for the treatment of cardiomyopathy in duchenne muscular dystrophy. PLoS Curr. 2013 Dec 12; 5. View abstract
  95. Singh P, Liew WK, Darras BT. Current advances in drug development in spinal muscular atrophy. Curr Opin Pediatr. 2013 Dec; 25(6):682-8. View abstract
  96. Tasker RC, Darras BT. Neuromuscular disorders: from diagnosis to translational research, drug development and clinical trials. Curr Opin Pediatr. 2013 Dec; 25(6):674-5. View abstract
  97. Gupta VA, Ravenscroft G, Shaheen R, Todd EJ, Swanson LC, Shiina M, Ogata K, Hsu C, Clarke NF, Darras BT, Farrar MA, Hashem A, Manton ND, Muntoni F, North KN, Sandaradura SA, Nishino I, Hayashi YK, Sewry CA, Thompson EM, Yau KS, Brownstein CA, Yu TW, Allcock RJ, Davis MR, Wallgren-Pettersson C, Matsumoto N, Alkuraya FS, Laing NG, Beggs AH. Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy. Am J Hum Genet. 2013 Dec 05; 93(6):1108-17. View abstract
  98. Hajjar M, Markowitz J, Darras BT, Kissel JT, Srinivasan J, Jones HR. Lambert-Eaton syndrome, an unrecognized treatable pediatric neuromuscular disorder: three patients and literature review. Pediatr Neurol. 2014 Jan; 50(1):11-7. View abstract
  99. Darras BT, Tawil R. Predicting hearing loss in facioscapulohumeral muscular dystrophy. Neurology. 2013 Oct 15; 81(16):1370-1. View abstract
  100. Mitsuhashi S, Boyden SE, Estrella EA, Jones TI, Rahimov F, Yu TW, Darras BT, Amato AA, Folkerth RD, Jones PL, Kunkel LM, Kang PB. Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2. Neuromuscul Disord. 2013 Dec; 23(12):975-80. View abstract
  101. Liew WK, Darras BT. Teaching NeuroImages: characteristic phenotype of Ullrich congenital muscular dystrophy. Neurology. 2013 Aug 13; 81(7):e44-5. View abstract
  102. McLaughlin HM, Kelly MA, Hawley PP, Darras BT, Funke B, Picker J. Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy. BMC Med Genet. 2013 Jul 02; 14:68. View abstract
  103. Liew WK, Ben-Omran T, Darras BT, Prabhu SP, De Vivo DC, Vatta M, Yang Y, Eng CM, Chung WK. Clinical application of whole-exome sequencing: a novel autosomal recessive spastic ataxia of Charlevoix-Saguenay sequence variation in a child with ataxia. JAMA Neurol. 2013 Jun; 70(6):788-91. View abstract
  104. Connolly AM, Florence JM, Cradock MM, Malkus EC, Schierbecker JR, Siener CA, Wulf CO, Anand P, Golumbek PT, Zaidman CM, Philip Miller J, Lowes LP, Alfano LN, Viollet-Callendret L, Flanigan KM, Mendell JR, McDonald CM, Goude E, Johnson L, Nicorici A, Karachunski PI, Day JW, Dalton JC, Farber JM, Buser KK, Darras BT, Kang PB, Riley SO, Shriber E, Parad R, Bushby K, Eagle M. Motor and cognitive assessment of infants and young boys with Duchenne Muscular Dystrophy: results from the Muscular Dystrophy Association DMD Clinical Research Network. Neuromuscul Disord. 2013 Jul; 23(7):529-39. View abstract
  105. Kobayashi DT, Shi J, Stephen L, Ballard KL, Dewey R, Mapes J, Chung B, McCarthy K, Swoboda KJ, Crawford TO, Li R, Plasterer T, Joyce C, Chung WK, Kaufmann P, Darras BT, Finkel RS, Sproule DM, Martens WB, McDermott MP, De Vivo DC, Walker MG, Chen KS. SMA-MAP: a plasma protein panel for spinal muscular atrophy. PLoS One. 2013; 8(4):e60113. View abstract
  106. Karakis I, Gregas M, Darras BT, Kang PB, Jones HR. Clinical correlates of Charcot-Marie-Tooth disease in patients with pes cavus deformities. Muscle Nerve. 2013 Apr; 47(4):488-92. View abstract
  107. Paciorkowski AR, Darras BT. Making sense of genetic heterogeneity: Emergence of pathways in developmental brain disorders. Neurology. 2013 Jan 29; 80(5):426-7. View abstract
  108. Rutkove SB, Darras BT. Electrical impedance myography for the assessment of children with muscular dystrophy: a preliminary study. J Phys Conf Ser. 2013; 434(1). View abstract
  109. McMillan HJ, Kang PB, Jones HR, Darras BT. Childhood chronic inflammatory demyelinating polyradiculoneuropathy: combined analysis of a large cohort and eleven published series. Neuromuscul Disord. 2013 Feb; 23(2):103-11. View abstract
  110. Kaufmann P, McDermott MP, Darras BT, Finkel RS, Sproule DM, Kang PB, Oskoui M, Constantinescu A, Gooch CL, Foley AR, Yang ML, Tawil R, Chung WK, Martens WB, Montes J, Battista V, O'Hagen J, Dunaway S, Flickinger J, Quigley J, Riley S, Glanzman AM, Benton M, Ryan PA, Punyanitya M, Montgomery MJ, Marra J, Koo B, De Vivo DC. Prospective cohort study of spinal muscular atrophy types 2 and 3. Neurology. 2012 Oct 30; 79(18):1889-97. View abstract
  111. Jacob FD, Ho ES, Martinez-Ojeda M, Darras BT, Khwaja OS. Case of infantile onset spinocerebellar ataxia type 5. J Child Neurol. 2013 Oct; 28(10):1292-5. View abstract
  112. Shah DU, Darras BT, Markowitz JA, Jones HR, Kang PB. The spectrum of myotonic and myopathic disorders in a pediatric electromyography laboratory over 12 years. Pediatr Neurol. 2012 Aug; 47(2):97-100. View abstract
  113. Srivastava T, Darras BT, Wu JS, Rutkove SB. Machine learning algorithms to classify spinal muscular atrophy subtypes. Neurology. 2012 Jul 24; 79(4):358-64. View abstract
  114. Rutkove SB, Gregas MC, Darras BT. Electrical impedance myography in spinal muscular atrophy: a longitudinal study. Muscle Nerve. 2012 May; 45(5):642-7. View abstract
  115. Böhm J, Biancalana V, Dechene ET, Bitoun M, Pierson CR, Schaefer E, Karasoy H, Dempsey MA, Klein F, Dondaine N, Kretz C, Haumesser N, Poirson C, Toussaint A, Greenleaf RS, Barger MA, Mahoney LJ, Kang PB, Zanoteli E, Vissing J, Witting N, Echaniz-Laguna A, Wallgren-Pettersson C, Dowling J, Merlini L, Oldfors A, Bomme Ousager L, Melki J, Krause A, Jern C, Oliveira AS, Petit F, Jacquette A, Chaussenot A, Mowat D, Leheup B, Cristofano M, Poza Aldea JJ, Michel F, Furby A, Llona JE, Van Coster R, Bertini E, Urtizberea JA, Drouin-Garraud V, Béroud C, Prudhon B, Bedford M, Mathews K, Erby LA, Smith SA, Roggenbuck J, Crowe CA, Brennan Spitale A, Johal SC, Amato AA, Demmer LA, Jonas J, Darras BT, Bird TD, Laurino M, Welt SI, Trotter C, Guicheney P, Das S, Mandel JL, Beggs AH, Laporte J. Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. Hum Mutat. 2012 Jun; 33(6):949-59. View abstract
  116. Boyden SE, Mahoney LJ, Kawahara G, Myers JA, Mitsuhashi S, Estrella EA, Duncan AR, Dey F, DeChene ET, Blasko-Goehringer JM, Bönnemann CG, Darras BT, Mendell JR, Lidov HG, Nishino I, Beggs AH, Kunkel LM, Kang PB. Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores. Neurogenetics. 2012 May; 13(2):115-24. View abstract
  117. Darras BT. More can be less: SMN1 gene duplications are associated with sporadic ALS. Neurology. 2012 Mar 13; 78(11):770-1. View abstract
  118. Markowitz JA, Singh P, Darras BT. Spinal muscular atrophy: a clinical and research update. Pediatr Neurol. 2012 Jan; 46(1):1-12. View abstract
  119. McMillan HJ, Darras BT, Kang PB. Autoimmune neuromuscular disorders in childhood. Curr Treat Options Neurol. 2011 Dec; 13(6):590-607. View abstract
  120. Glanzman AM, O'Hagen JM, McDermott MP, Martens WB, Flickinger J, Riley S, Quigley J, Montes J, Dunaway S, Deng L, Chung WK, Tawil R, Darras BT, De Vivo DC, Kaufmann P, Finkel RS. Validation of the Expanded Hammersmith Functional Motor Scale in spinal muscular atrophy type II and III. J Child Neurol. 2011 Dec; 26(12):1499-507. View abstract
  121. Darras BT. Non-5q spinal muscular atrophies: the alphanumeric soup thickens. Neurology. 2011 Jul 26; 77(4):312-4. View abstract
  122. Darras BT. Child neurology residency training in neuromuscular disorders. Semin Pediatr Neurol. 2011 Jun; 18(2):116-9. View abstract
  123. Sproule DM, Montgomery MJ, Punyanitya M, Shen W, Dashnaw S, Montes J, Dunaway S, Finkel R, Darras B, Vivo DC, Kaufmann P. Thigh muscle volume measured by magnetic resonance imaging is stable over a 6-month interval in spinal muscular atrophy. J Child Neurol. 2011 Oct; 26(10):1252-9. View abstract
  124. Srinivasan J, Ryan MM, Escolar DM, Darras B, Jones HR. Pediatric sciatic neuropathies: a 30-year prospective study. Neurology. 2011 Mar 15; 76(11):976-80. View abstract
  125. Pillen S, van Alfen N, Sorenson EJ, Boon AJ, Wu JS, Darras BT, Rutkove SB. Assessing spinal muscular atrophy with quantitative ultrasound. Neurology. 2011 Mar 08; 76(10):933; author reply 933-4. View abstract
  126. Kaufmann P, McDermott MP, Darras BT, Finkel R, Kang P, Oskoui M, Constantinescu A, Sproule DM, Foley AR, Yang M, Tawil R, Chung W, Martens B, Montes J, O'Hagen J, Dunaway S, Flickinger JM, Quigley J, Riley S, Glanzman AM, Benton M, Ryan PA, Irvine C, Annis CL, Butler H, Caracciolo J, Montgomery M, Marra J, Koo B, De Vivo DC. Observational study of spinal muscular atrophy type 2 and 3: functional outcomes over 1 year. Arch Neurol. 2011 Jun; 68(6):779-86. View abstract
  127. McMillan HJ, Srinivasan J, Darras BT, Ryan MM, Davis J, Lidov HG, Gill D, Jones HR. Pediatric sciatic neuropathy associated with neoplasms. Muscle Nerve. 2011 Feb; 43(2):183-8. View abstract
  128. Jafarpoor M, Spieker AJ, Li J, Sung M, Darras BT, Rutkove SB. Assessing electrical impedance alterations in spinal muscular atrophy via the finite element method. Annu Int Conf IEEE Eng Med Biol Soc. 2011; 2011:1871-4. View abstract
  129. Glanzman AM, McDermott MP, Montes J, Martens WB, Flickinger J, Riley S, Quigley J, Dunaway S, O'Hagen J, Deng L, Chung WK, Tawil R, Darras BT, Yang M, Sproule D, De Vivo DC, Kaufmann P, Finkel RS. Validation of the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND). Pediatr Phys Ther. 2011; 23(4):322-6. View abstract
  130. McMillan HJ, Gregas M, Darras BT, Kang PB. Serum transaminase levels in boys with Duchenne and Becker muscular dystrophy. Pediatrics. 2011 Jan; 127(1):e132-6. View abstract
  131. Rutkove SB, Shefner JM, Gregas M, Butler H, Caracciolo J, Lin C, Fogerson PM, Mongiovi P, Darras BT. Characterizing spinal muscular atrophy with electrical impedance myography. Muscle Nerve. 2010 Dec; 42(6):915-21. View abstract
  132. Sproule DM, Punyanitya M, Shen W, Dashnaw S, Martens B, Montgomery M, Montes J, Battista V, Finkel R, Darras B, De Vivo DC, Kaufmann P. Muscle volume estimation by magnetic resonance imaging in spinal muscular atrophy. J Child Neurol. 2011 Mar; 26(3):309-17. View abstract
  133. Stratigopoulos G, Lanzano P, Deng L, Guo J, Kaufmann P, Darras B, Finkel R, Tawil R, McDermott MP, Martens W, Devivo DC, Chung WK. Association of plastin 3 expression with disease severity in spinal muscular atrophy only in postpubertal females. Arch Neurol. 2010 Oct; 67(10):1252-6. View abstract
  134. Wu JS, Darras BT, Rutkove SB. Assessing spinal muscular atrophy with quantitative ultrasound. Neurology. 2010 Aug 10; 75(6):526-31. View abstract
  135. Gaitanis JN, McMillan HJ, Wu A, Darras BT. Electrophysiologic evidence for anterior horn cell disease in amyoplasia. Pediatr Neurol. 2010 Aug; 43(2):142-7. View abstract
  136. Sproule DM, Montes J, Dunaway S, Montgomery M, Battista V, Koenigsberger D, Martens B, Shen W, Punyanitya M, Benton M, Butler H, Caracciolo J, Mercuri E, Finkel R, Darras B, De Vivo DC, Kaufmann P. Adiposity is increased among high-functioning, non-ambulatory patients with spinal muscular atrophy. Neuromuscul Disord. 2010 Jul; 20(7):448-52. View abstract
  137. Kang PB, Lidov HG, White AJ, Mitchell M, Balasubramanian A, Estrella E, Bennett RR, Darras BT, Shapiro FD, Bambach BJ, Kurtzberg J, Gussoni E, Kunkel LM. Inefficient dystrophin expression after cord blood transplantation in Duchenne muscular dystrophy. Muscle Nerve. 2010 Jun; 41(6):746-50. View abstract
  138. Montes J, McDermott MP, Martens WB, Dunaway S, Glanzman AM, Riley S, Quigley J, Montgomery MJ, Sproule D, Tawil R, Chung WK, Darras BT, De Vivo DC, Kaufmann P, Finkel RS. Six-Minute Walk Test demonstrates motor fatigue in spinal muscular atrophy. Neurology. 2010 Mar 09; 74(10):833-8. View abstract
  139. Maski KP, Jeste SS, Darras BT. Child neurology: past, present, and future: part 2: Present training structure. Neurology. 2010 Feb 09; 74(6):e17-9. View abstract
  140. McMillan HJ, Darras BT, Kang PB, Saleh F, Jones HR. Pediatric monomelic amyotrophy: evidence for poliomyelitis in vulnerable populations. Muscle Nerve. 2009 Nov; 40(5):860-3. View abstract
  141. Bennett RR, Schneider HE, Estrella E, Burgess S, Cheng AS, Barrett C, Lip V, Lai PS, Shen Y, Wu BL, Darras BT, Beggs AH, Kunkel LM. Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes. BMC Genet. 2009 Oct 18; 10:66. View abstract
  142. Anselm IA, Sweadner KJ, Gollamudi S, Ozelius LJ, Darras BT. Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation. Neurology. 2009 Aug 04; 73(5):400-1. View abstract
  143. Mallory LA, Shaw JG, Burgess SL, Estrella E, Nurko S, Burpee TM, Agus MS, Darras BT, Kunkel LM, Kang PB. Congenital myasthenic syndrome with episodic apnea. Pediatr Neurol. 2009 Jul; 41(1):42-5. View abstract
  144. Chiang LM, Darras BT, Kang PB. Juvenile myasthenia gravis. Muscle Nerve. 2009 Apr; 39(4):423-31. View abstract
  145. Kipps A, Alexander M, Colan SD, Gauvreau K, Smoot L, Crawford L, Darras BT, Blume ED. The longitudinal course of cardiomyopathy in Friedreich's ataxia during childhood. Pediatr Cardiol. 2009 Apr; 30(3):306-10. View abstract
  146. Srinivasan J, Escolar D, Ryan M, Darras B, Jones HR. Pediatric sciatic neuropathies due to unusual vascular causes. J Child Neurol. 2008 Jul; 23(7):738-41. View abstract
  147. Sinno DD, Darras BT, Yamout BI, Rebeiz JG, Mikati MA. Motor variant of chronic inflammatory demyelinating polyneuropathy in a child. Pediatr Neurol. 2008 Jun; 38(6):426-9. View abstract
  148. Anselm IA, Coulter DL, Darras BT. Cardiac manifestations in a child with a novel mutation in creatine transporter gene SLC6A8. Neurology. 2008 Apr 29; 70(18):1642-4. View abstract
  149. Cardamone M, Darras BT, Ryan MM. Inherited myopathies and muscular dystrophies. Semin Neurol. 2008 Apr; 28(2):250-9. View abstract
  150. Darras BT, Kang PB. Clinical trials in spinal muscular atrophy. Curr Opin Pediatr. 2007 Dec; 19(6):675-9. View abstract
  151. Kang PB, Feener CA, Estrella E, Thorne M, White AJ, Darras BT, Amato AA, Kunkel LM. LGMD2I in a North American population. BMC Musculoskelet Disord. 2007 Nov 24; 8:115. View abstract
  152. Rhodes J, Margossian R, Darras BT, Colan SD, Jenkins KJ, Geva T, Powell AJ. Safety and efficacy of carvedilol therapy for patients with dilated cardiomyopathy secondary to muscular dystrophy. Pediatr Cardiol. 2008 Mar; 29(2):343-51. View abstract
  153. O'Hagen JM, Glanzman AM, McDermott MP, Ryan PA, Flickinger J, Quigley J, Riley S, Sanborn E, Irvine C, Martens WB, Annis C, Tawil R, Oskoui M, Darras BT, Finkel RS, De Vivo DC. An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients. Neuromuscul Disord. 2007 Oct; 17(9-10):693-7. View abstract
  154. Gorman MP, Golomb MR, Walsh LE, Hobson GM, Garbern JY, Kinkel RP, Darras BT, Urion DK, Eksioglu YZ. Steroid-responsive neurologic relapses in a child with a proteolipid protein-1 mutation. Neurology. 2007 Apr 17; 68(16):1305-7. View abstract
  155. Velasco MV, Colin AA, Zurakowski D, Darras BT, Shapiro F. Posterior spinal fusion for scoliosis in duchenne muscular dystrophy diminishes the rate of respiratory decline. Spine (Phila Pa 1976). 2007 Feb 15; 32(4):459-65. View abstract
  156. Agrawal PB, Greenleaf RS, Tomczak KK, Lehtokari VL, Wallgren-Pettersson C, Wallefeld W, Laing NG, Darras BT, Maciver SK, Dormitzer PR, Beggs AH. Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2. Am J Hum Genet. 2007 Jan; 80(1):162-7. View abstract
  157. Anselm IA, Darras BT. Dichloroacetate causes toxic neuropathy in MELAS: a randomized, controlled clinical trial. Neurology. 2006 Oct 10; 67(7):1313; author reply 1313. View abstract
  158. Anselm IA, Darras BT. Catecholamine toxicity in aromatic L-amino acid decarboxylase deficiency. Pediatr Neurol. 2006 Aug; 35(2):142-4. View abstract
  159. Duncan DR, Kang PB, Rabbat JC, Briggs CE, Lidov HG, Darras BT, Kunkel LM. A novel mutation in two families with limb-girdle muscular dystrophy type 2C. Neurology. 2006 Jul 11; 67(1):167-9. View abstract
  160. Kang PB, Krishnamoorthy KS, Jones RM, Shapiro FD, Darras BT. Atypical presentations of spinal muscular atrophy type III (Kugelberg-Welander disease). Neuromuscul Disord. 2006 Aug; 16(8):492-4. View abstract
  161. Howell RR, Byrne B, Darras BT, Kishnani P, Nicolino M, van der Ploeg A. Diagnostic challenges for Pompe disease: an under-recognized cause of floppy baby syndrome. Genet Med. 2006 May; 8(5):289-96. View abstract
  162. Wu JY, Kuban KC, Allred E, Shapiro F, Darras BT. Association of Duchenne muscular dystrophy with autism spectrum disorder. J Child Neurol. 2005 Oct; 20(10):790-5. View abstract
  163. Diab M, Darras BT, Shapiro F. Scapulothoracic fusion for facioscapulohumeral muscular dystrophy. J Bone Joint Surg Am. 2005 Oct; 87(10):2267-75. View abstract
  164. Fleming FJ, Vytopil M, Chaitow J, Jones HR, Darras BT, Ryan MM. Thalidomide neuropathy in childhood. Neuromuscul Disord. 2005 Feb; 15(2):172-6. View abstract
  165. Ullrich NJ, Riviello JJ, Darras BT, Donner EJ. Electroencephalographic correlate of juvenile Huntington's disease. J Child Neurol. 2004 Jul; 19(7):541-3. View abstract
  166. Darras BT, Jones HR. Neuromuscular problems of the critically ill neonate and child. Semin Pediatr Neurol. 2004 Jun; 11(2):147-68. View abstract
  167. Cameron CL, Kang PB, Burns TM, Darras BT, Jones HR. Multifocal slowing of nerve conduction in metachromatic leukodystrophy. Muscle Nerve. 2004 Apr; 29(4):531-6. View abstract
  168. Kang PB, Lidov HG, David WS, Torres A, Anthony DC, Jones HR, Darras BT. Diagnostic value of electromyography and muscle biopsy in arthrogryposis multiplex congenita. Ann Neurol. 2003 Dec; 54(6):790-5. View abstract
  169. Yao DC, Tolan DR, Murray MF, Harris DJ, Darras BT, Geva A, Neufeld EJ. Hemolytic anemia and severe rhabdomyolysis caused by compound heterozygous mutations of the gene for erythrocyte/muscle isozyme of aldolase, ALDOA(Arg303X/Cys338Tyr). Blood. 2004 Mar 15; 103(6):2401-3. View abstract
  170. Ryan MM, Tilton A, De Girolami U, Darras BT, Jones HR. Paediatric mononeuritis multiplex: a report of three cases and review of the literature. Neuromuscul Disord. 2003 Nov; 13(9):751-6. View abstract
  171. Ryan MM, Darras BT, Soul JS. Peroneal neuropathy from ankle-foot orthoses. Pediatr Neurol. 2003 Jul; 29(1):72-4. View abstract
  172. Burns TM, Ryan MM, Darras B, Jones HR. Current therapeutic strategies for patients with polyneuropathies secondary to inherited metabolic disorders. Mayo Clin Proc. 2003 Jul; 78(7):858-68. View abstract
  173. Milunsky JM, Maher TA, Loose BA, Darras BT, Ito M. XL PCR for the detection of large trinucleotide expansions in juvenile Huntington's disease. Clin Genet. 2003 Jul; 64(1):70-3. View abstract
  174. Cooper LL, Hansen RM, Darras BT, Korson M, Dougherty FE, Shoffner JM, Fulton AB. Rod photoreceptor function in children with mitochondrial disorders. Arch Ophthalmol. 2002 Aug; 120(8):1055-62. View abstract
  175. Bönnemann CG, Wong J, Jones KJ, Lidov HG, Feener CA, Shapiro F, Darras BT, Kunkel LM, North KN. Primary gamma-sarcoglycanopathy (LGMD 2C): broadening of the mutational spectrum guided by the immunohistochemical profile. Neuromuscul Disord. 2002 Mar; 12(3):273-80. View abstract
  176. Hsich GE, Davis RG, Darras BT. Osteoid osteoma presenting with focal neurologic signs. Pediatr Neurol. 2002 Feb; 26(2):148-52. View abstract
  177. Bennett RR, den Dunnen J, O'Brien KF, Darras BT, Kunkel LM. Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing. BMC Genet. 2001; 2:17. View abstract
  178. Brown CA, Lanning RW, McKinney KQ, Salvino AR, Cherniske E, Crowe CA, Darras BT, Gominak S, Greenberg CR, Grosmann C, Heydemann P, Mendell JR, Pober BR, Sasaki T, Shapiro F, Simpson DA, Suchowersky O, Spence JE. Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy. Am J Med Genet. 2001 Sep 01; 102(4):359-67. View abstract
  179. Zarifi MK, Tzika AA, Astrakas LG, Poussaint TY, Anthony DC, Darras BT. Magnetic resonance spectroscopy and magnetic resonance imaging findings in Krabbe's disease. J Child Neurol. 2001 Jul; 16(7):522-6. View abstract
  180. Lin AE, Liu Q, Mannheim GB, Darras BT. Exclusion of growth factor gene mutations as a common cause of Sotos syndrome. Am J Med Genet. 2001 Jan 01; 98(1):101-2. View abstract
  181. Darras BT, Jones HR. Diagnosis of pediatric neuromuscular disorders in the era of DNA analysis. Pediatr Neurol. 2000 Oct; 23(4):289-300. View abstract
  182. Menache CC, Brown CA, Donnelly JH, Shapiro F, Darras BT. Identification of a novel truncating mutation (S171X) in the Emerin gene in five members of a Caucasian American family with Emery-Dreifuss muscular dystrophy. Hum Mutat. 2000 Jul; 16(1):94. View abstract
  183. Darras BT, Friedman NR. Metabolic myopathies: a clinical approach; part II. Pediatr Neurol. 2000 Mar; 22(3):171-81. View abstract
  184. Bönnemann CG, Cox GF, Shapiro F, Wu JJ, Feener CA, Thompson TG, Anthony DC, Eyre DR, Darras BT, Kunkel LM. A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy. Proc Natl Acad Sci U S A. 2000 Feb 01; 97(3):1212-7. View abstract
  185. Darras BT, Friedman NR. Metabolic myopathies: a clinical approach; part I. Pediatr Neurol. 2000 Feb; 22(2):87-97. View abstract
  186. Jones HR, Darras BT. Acute care pediatric electromyography. Muscle Nerve Suppl. 2000; (9):S53-62. View abstract
  187. Jones HR, Darras BT. Acute care pediatric electromyography. Muscle Nerve Suppl. 2000; 9:S53-62. View abstract
  188. Darras BT. Role of EMG in the evaluation of presumed myopathies in the era of DNA analysis. Suppl Clin Neurophysiol. 2000; 53:133-8. View abstract
  189. Heidary G, Hampton LL, Schanen NC, Rivkin MJ, Darras BT, Battey J, Francke U. Exclusion of the gastrin-releasing peptide receptor (GRPR) locus as a candidate gene for Rett syndrome. Am J Med Genet. 1998 Jun 30; 78(2):173-5. View abstract
  190. Darras BT. Neuromuscular disorders in the newborn. Clin Perinatol. 1997 Dec; 24(4):827-44. View abstract
  191. Wu JK, MacGillavry M, Kessaris C, Verheul B, Adelman LS, Darras BT. Clonal analysis of meningiomas. Neurosurgery. 1996 Jun; 38(6):1196-200; discussion 1200-1. View abstract
  192. Morse RP, Darras BT, Ye Z, Wu JK. Clonal analysis of human astrocytomas. J Neurooncol. 1994; 21(2):151-7. View abstract
  193. Wu JK, Ye Z, Darras BT. Frequency of p53 tumor suppressor gene mutations in human primary brain tumors. Neurosurgery. 1993 Nov; 33(5):824-30; discussion 830-1. View abstract
  194. Wu JK, Ye Z, Darras BT. Sensitivity of single-strand conformation polymorphism (SSCP) analysis in detecting p53 point mutations in tumors with mixed cell populations. Am J Hum Genet. 1993 Jun; 52(6):1273-5. View abstract
  195. Ye Z, Qu JK, Darras BT. Loss of heterozygosity for alleles on chromosome 10 in human brain tumours. Neurol Res. 1993 Feb; 15(1):59-62. View abstract
  196. Wu JK, Folkerth RD, Ye Z, Darras BT. Aggressive oligodendroglioma predicted by chromosome 10 restriction fragment length polymorphism analysis. Case study. J Neurooncol. 1993 Jan; 15(1):29-35. View abstract
  197. Ye Z, Wu JK, Darras BT. Loss of heterozygosity for alleles on chromosome 10 in human brain tumours. Neurol Res. 1993 Jan; 15(1):59-62. View abstract
  198. Morse RP, Bennish ML, Darras BT. Eastern equine encephalitis presenting with a focal brain lesion. Pediatr Neurol. 1992 Nov-Dec; 8(6):473-5. View abstract
  199. Rivkin MJ, Ye Z, Mannheim GB, Darras BT. A search for X-chromosome uniparental disomy and DNA rearrangements in the Rett syndrome. Brain Dev. 1992 Jul; 14(4):273-5. View abstract
  200. Wu JK, Darras BT. Loss of heterozygosity on the short arm of chromosome 17 in human astrocytomas. Neurol Res. 1992 Mar; 14(1):39-44. View abstract
  201. Lomax MI, Hsieh CL, Darras BT, Francke U. Structure of the human cytochrome c oxidase subunit Vb gene and chromosomal mapping of the coding gene and of seven pseudogenes. Genomics. 1991 May; 10(1):1-9. View abstract
  202. Francke U, Ochs HD, Darras BT, Swaroop A. Origin of mutations in two families with X-linked chronic granulomatous disease. Blood. 1990 Aug 01; 76(3):602-6. View abstract
  203. Darras BT. Molecular genetics of Duchenne and Becker muscular dystrophy. J Pediatr. 1990 Jul; 117(1 Pt 1):1-15. View abstract
  204. Hsieh CL, Donlon TA, Darras BT, Chang DD, Topper JN, Clayton DA, Francke U. The gene for the RNA component of the mitochondrial RNA-processing endoribonuclease is located on human chromosome 9p and on mouse chromosome 4. Genomics. 1990 Mar; 6(3):540-4. View abstract
  205. Lomax MI, Welch MD, Darras BT, Francke U, Grossman LI. Novel use of a chimpanzee pseudogene for chromosomal mapping of human cytochrome c oxidase subunit IV. Gene. 1990 Feb 14; 86(2):209-16. View abstract
  206. Koenig M, Beggs AH, Moyer M, Scherpf S, Heindrich K, Bettecken T, Meng G, Müller CR, Lindlöf M, Kaariainen H, de la Chapellet A, Kiuru A, Savontaus ML, Gilgenkrantz H, Récan D, Chelly J, Kaplan JC, Covone AE, Archidiacono N, Romeo G, Liechti-Gailati S, Schneider V, Braga S, Moser H, Darras BT, Murphy P, Francke U, Chen JD, Morgan G, Denton M, Greenberg CR, Wrogemann K, Blonden LA, van Paassen MB, van Ommen GJ, Kunkel LM. The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am J Hum Genet. 1989 Oct; 45(4):498-506. View abstract
  207. Slama MA, Tribouilloy C, Bickert P, Caze F, Jobic Y, Darras B, Lesbre JP. [Apical hypertrophic myocardiopathy with mid-ventricular obstruction and apical necrosis]. Arch Mal Coeur Vaiss. 1989 Sep; 82(9):1623-7. View abstract
  208. Francke U, Darras BT, Zander NF, Kilimann MW. Assignment of human genes for phosphorylase kinase subunits alpha (PHKA) to Xq12-q13 and beta (PHKB) to 16q12-q13. Am J Hum Genet. 1989 Aug; 45(2):276-82. View abstract
  209. Francke U, Darras BT, Hersh JH, Berg BO, Miller RG. Brother/sister pairs affected with early-onset, progressive muscular dystrophy: molecular studies reveal etiologic heterogeneity. Am J Hum Genet. 1989 Jul; 45(1):63-72. View abstract
  210. Rizzuto R, Nakase H, Darras B, Francke U, Fabrizi GM, Mengel T, Walsh F, Kadenbach B, DiMauro S, Schon EA. A gene specifying subunit VIII of human cytochrome c oxidase is localized to chromosome 11 and is expressed in both muscle and non-muscle tissues. J Biol Chem. 1989 Jun 25; 264(18):10595-600. View abstract
  211. Jobic Y, Slama MA, Tribouilloy C, Poulard JE, Choquet D, Darras B, Lesbre JP. [[Doppler echocardiography in the diagnosis of tri-atrial heart in adults]. Arch Mal Coeur Vaiss. 1989 Mar; 82(3):419-23. View abstract
  212. Darras BT, Ampola MG, Dietz WH, Gilmore HE. Intermittent dystonia in Hartnup disease. Pediatr Neurol. 1989 Mar-Apr; 5(2):118-20. View abstract
  213. Fodor WL, Darras B, Seharaseyon J, Falkenthal S, Francke U, Vanin EF. Human ventricular/slow twitch myosin alkali light chain gene characterization, sequence, and chromosomal location. J Biol Chem. 1989 Feb 05; 264(4):2143-9. View abstract
  214. Darras BT, Francke U. Normal human genomic restriction-fragment patterns and polymorphisms revealed by hybridization with the entire dystrophin cDNA. Am J Hum Genet. 1988 Nov; 43(5):612-9. View abstract
  215. Darras BT, Blattner P, Harper JF, Spiro AJ, Alter S, Francke U. Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of the mutations. Am J Hum Genet. 1988 Nov; 43(5):620-9. View abstract
  216. Choquet D, Mertl C, Pleskof A, Isorni C, Darras B, Lesbre JP. [Evaluation by Doppler ultrasound of the severity of aortic stenoses. Application of the continuity equation]. Arch Mal Coeur Vaiss. 1988 Aug; 81(8):973-81. View abstract
  217. Darras BT, Francke U. Myopathy in complex glycerol kinase deficiency patients is due to 3' deletions of the dystrophin gene. Am J Hum Genet. 1988 Aug; 43(2):126-30. View abstract
  218. Avinee P, Rey JL, Isorni C, Darras B, Lesbre JP. [Compared validity of the criteria of quantification of aortic insufficiency using pulsed and continuous Doppler]. Arch Mal Coeur Vaiss. 1988 Jul; 81(7):895-901. View abstract
  219. Zeviani M, Darras BT, Rizzuto R, Salviati G, Betto R, Bonilla E, Miranda AF, Du J, Samitt C, Dickson G, et al. Cloning and expression of human nebulin cDNAs and assignment of the gene to chromosome 2q31-q32. Genomics. 1988 Apr; 2(3):249-56. View abstract
  220. Darras BT, Koenig M, Kunkel LM, Francke U. Direct method for prenatal diagnosis and carrier detection in Duchenne/Becker muscular dystrophy using the entire dystrophin cDNA. Am J Med Genet. 1988 Mar; 29(3):713-26. View abstract
  221. Darras BT, Francke U. A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male. Nature. 1987 Oct 8-14; 329(6139):556-8. View abstract
  222. Darras BT, Harper JF, Francke U. Prenatal diagnosis and detection of carriers with DNA probes in Duchenne's muscular dystrophy. N Engl J Med. 1987 Apr 16; 316(16):985-92. View abstract
  223. Francke U, Harper JF, Darras BT, Cowan JM, McCabe ER, Kohlschütter A, Seltzer WK, Saito F, Goto J, Harpey JP, et al. Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions. Am J Hum Genet. 1987 Mar; 40(3):212-27. View abstract
  224. Kunkel LM, Hejtmancik JF, Caskey CT, Speer A, Monaco AP, Middlesworth W, Colletti CA, Bertelson C, Müller U, Bresnan M, Shapiro F, Tantravahi U, Speer J, Latt SA, Bartlett R, Pericak-Vance MA, Roses AD, Thompson MW, Ray PN, Worton RG, Fischbeck KH, Gallano P, Coulon M, Duros C, Boue J, Junien C, Chelly J, Hamard G, Jeanpierre M, Lambert M, Kaplan JC, Emery A, Dorkins H, McGlade S, Davies KE, Boehm C, Arveiler B, Lemaire C, Morgan GJ, Denton MJ, Amos J, Bobrow M, Benham F, Boswinkel E, Cole C, Dubowitz V, Hart K, Hodgson S, Johnson L, Walker A, Roncuzzi L, Ferlini A, Nobile C, Romeo G, Wilcox DE, Affara NA, Ferguson-Smith MA, Lindolf M, Kaariainen H, de la Chapelle A, Ionasescu V, Searby C, Ionasescu R, Bakker E, van Ommen GJ, Pearson PL, Greenberg CR, Hamerton JL, Wrogemann K, Doherty RA, Polakowska R, Hyser C, Quirk S, Thomas N, Harper JF, Darras BT, Francke U. Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature. 1986 Jul 3-9; 322(6074):73-7. View abstract
  225. Darras BT, Kwan ES, Gilmore HE, Ehrenberg BL, Rabe EF. Globoid cell leukodystrophy: cranial computed tomography and evoked potentials. J Child Neurol. 1986 Apr; 1(2):126-30. View abstract
  226. Tribouilloy C, Castier B, Vovan A, Boey S, Delforge J, Lecuyer D, Darras B, Lesbre JP. [Pulsed and continuous Doppler in qualitative and quantitative diagnosis of mitral insufficiency]. Arch Mal Coeur Vaiss. 1986 Apr; 79(4):473-81. View abstract
  227. Darras BT, Adelman LS, Mora JS, Bodziner RA, Munsat TL. Familial amyloidosis with cranial neuropathy and corneal lattice dystrophy. Neurology. 1986 Mar; 36(3):432-5. View abstract
  228. Leggiadro RJ, Darras BT. Viral and bacterial pathogens of suspected sepsis in young infants. Pediatr Infect Dis. 1983 Jul-Aug; 2(4):287-9. View abstract
  229. Darras BT, Annunziato D, Leggiadro RJ. Lyme disease with neurologic abnormalities. Pediatr Infect Dis. 1983 Jan-Feb; 2(1):47-9. View abstract
  230. Lesbre JP, Schurtz C, Kalisa A, Darras B, Andrejak MT. [Valvular aortic regurgitation and stenosis in adults]. Ann Cardiol Angeiol (Paris). 1982 Jun; 31(4):269-89. View abstract