Basil Darras

Basil Darras, MD

Associate Neurologist-in-chief; Chief-Division of Clinical Neurology, Director-Neuromuscular Center

Professor of Neurology, Harvard Medical School

    Contact: 617-355-2751
  • Fax: 617-730-0285

"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 Services

Specialties

  • Electromyography (EMG)
  • Neuromuscular Disorders
  • Spinal Muscular Atrophy
  • Cerebral Palsy
  • Child Neurology

Departments

  • Neurology

Languages

  • English
  • Greek

Programs

  • Neuromuscular Program
  • Spinal Muscular Atrophy Program
To schedule an appointment: Call 617-355-2751 or Request an Appointment
Basil Darras

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.

Experience and Education

Education

Medical Degree

University of Athens Medical School, 1977

Athens, GREECE

Internship

University of Athens Hospital, 1979

Athens, GREECE

Residency

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

Stony Brook, NY

Residency

Tufts Medical School - New England Medical Center, 1985

Boston, MA

Fellowship

Yale University School of Medicine, 1988

New Haven, CT

Certifications

  • Pediatrics, Child Neurology, Medical Genetics

  • Neuromuscular Medicine

Professional History

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.

Research

My research efforts encompass both clinical and basic projects focused on molecular genetics, diagnostics and therapeutics for neuromuscular diseases in children.

My basic science work has led to the publication of several important papers in the investigation of DMD (Duchenne muscular dystrophy). Colleagues and I described for the first time in a 1987 Nature publication the phenomenon of germ-line mosaicism in DMD, in which a female with negative blood-based DNA testing for carrier status may still be a carrier and thus be at risk for transmitting the disease to her children. Identifying this biological phenomenon in DMD has had important implications for the genetic counseling of DMD families. 

I am committed to basic research and collaborate with scientists in the Enders and CLS research laboratories of Boston Children's Hospital as well as other institutions on the description of novel mutations in patients with neuromuscular diseases and the application of new technologies to explore the pathogenesis of congenital myopathies and muscular dystrophies.

My clinical research focuses on DMD and SMA (spinal muscular atrophy). I have led several pivotal clinical trials to test mutation specific treatments for these diseases. A series of clinical trials of an antisense oligonucleotide given via spinal tap for SMA has shown encouraging results. I lead one of a few centers in the United States currently testing this treatment and other treatments for SMA and DMD.

My clinical studies have also investigated arthrogryposis multiplex congenita (AMC), chronic inflammatory demyelinating neuropathy (CIDP), and the development of diagnostic algorithms for evaluating children with metabolic myopathies and other neuromuscular diseases.

Remarkable progress in the field of neuromuscular diseases has introduced new genetic tests and has changed the indications for utilization of certain diagnostic procedures in the evaluation of children with presumed disorders of the motor unit. In articles and chapters published in the last few years, I have attempted to define the indications for the new diagnostic tests and re-delineate the role of traditional procedures such as electromyography and muscle biopsy.

I am proud to have written the only major, comprehensive textbook on pediatric neuromuscular disorders, Neuromuscular Disorders of Infancy, Childhood, and Adolescence: A Clinician’s Approach, the most comprehensive text in pediatric neuromuscular diseases ever published, with more than a thousand copies sold world-wide in the first few months after the release of the second edition in 2015. I am the author of over 140 peer-reviewed publications and over 80 book chapters.


I am the author of over 140 peer-reviewed publications and over 80 book chapters, including:

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;322:73-77.

Darras BT, Harper JF, Francke U. Prenatal diagnosis and detection of carriers in Duchenne's muscular dystrophy. N Engl J Med 1987;316:985-992.

Darras BT, Francke U. A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male. Nature 1987;329:556-558.

Darras BT, Koenig M, Kunkel LM, Francke U. Direct method for prenatal diagnosis and carrier detection in Duchenne’s/Becker’s muscular dystrophy using the entire Dystrophin cDNA. Am J Med Genet 1988;29:713-726.

Darras BT. Molecular genetics of Duchenne and Becker muscular dystrophy. J Pediatr 1990;117:1-15.

Darras BT, Jones HR. Diagnosis of pediatric neuromuscular disorders in the era of DNA analysis. Pediatr Neurol 2000;23(4):289-300.

Wu JY, Kuban K, Allred EN, Darras BT. Association of Duchenne muscular dystrophy with autism spectrum disorder. J Child Neurol 2005;20:790-795.

Markowitz JA, Singh P, Darras BT. Spinal muscular atrophy: a clinical and research update. Pediatr Neurol 2012;46(1):1-12.

Singh P, Liew WK, Darras BT. Current advances in drug development in spinal muscular atrophy. Curr Opin Pediatr 2013 Dec;25(6):682-8.

Darras BT, Markowitz JA, Monani UR, De Vivo DC. Spinal muscular atrophies. In: Darras BT, Jones HR Jr, Ryan MM, De Vivo DC, editors. Neuromuscular Disorders of Infancy, Childhood, and Adolescence: A Clinician’s Approach. Second edition. San Diego: Academic Press, 2015.

Darras BT, Menache-Starobinski CC, Hinton V, Kunkel LM. Dystrophinopathies. In: Darras BT, Jones HR Jr, Ryan MM, De Vivo DC, editors. Neuromuscular Disorders of Infancy, Childhood, and Adolescence: A Clinician’s Approach. Second edition. San Diego: Academic Press, 2015.

Darras BT, Jones HR Jr, Ryan MM, De Vivo DC, editors. Neuromuscular Disorders of Infancy, Childhood, and Adolescence: A Clinician’s Approach. Second edition. San Diego: Academic Press, 2015.

Publications

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  1. 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.
  2. Mazzone ES, Mayhew A, Montes J, Ramsey D, Fanelli L, Dunaway Young S, 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. 2016 Oct 4.
  3. 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.
  4. 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 Oct; 54(4):681-9.
  5. 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 8; 86(10):890-7.
  6. 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 Feb; 3(2):132-45.
  7. 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.
  8. 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.
  9. 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.
  10. Brandsema JF, Darras BT. Dystrophinopathies. Semin Neurol. 2015 Aug; 35(4):369-84.
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  12. 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.
  13. Darras BT. Spinal muscular atrophies. Pediatr Clin North Am. 2015 Jun; 62(3):743-66.
  14. 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.
  15. 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.
  16. 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.
  17. Bertini E, Darras BT. Congenital myopathies: Rebuilding the natural history, one gene at a time. Neurology. 2015 Jan 6; 84(1):15-6.
  18. 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.
  19. 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.
  20. 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.
  21. 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.
  22. 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.
  23. 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.
  24. 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.
  25. 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.
  26. Singh P, Liew WK, Darras BT. Current advances in drug development in spinal muscular atrophy. Curr Opin Pediatr. 2013 Dec; 25(6):682-8.
  27. 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.
  28. 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.
  29. Darras BT, Tawil R. Predicting hearing loss in facioscapulohumeral muscular dystrophy. Neurology. 2013 Oct 15; 81(16):1370-1.
  30. 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.
  31. Liew WK, Darras BT. Teaching NeuroImages: characteristic phenotype of Ullrich congenital muscular dystrophy. Neurology. 2013 Aug 13; 81(7):e44-5.
  32. 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; 14:68.
  33. 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.
  34. 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.
  35. 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.
  36. Paciorkowski AR, Darras BT. Making sense of genetic heterogeneity: Emergence of pathways in developmental brain disorders. Neurology. 2013 Jan 29; 80(5):426-7.
  37. 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).
  38. 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.
  39. 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.
  40. 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.
  41. 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.
  42. 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.
  43. 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.
  44. 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.
  45. Darras BT. More can be less: SMN1 gene duplications are associated with sporadic ALS. Neurology. 2012 Mar 13; 78(11):770-1.
  46. Markowitz JA, Singh P, Darras BT. Spinal muscular atrophy: a clinical and research update. Pediatr Neurol. 2012 Jan; 46(1):1-12.
  47. McMillan HJ, Darras BT, Kang PB. Autoimmune neuromuscular disorders in childhood. Curr Treat Options Neurol. 2011 Dec; 13(6):590-607.
  48. 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.
  49. Darras BT. Non-5q spinal muscular atrophies: the alphanumeric soup thickens. Neurology. 2011 Jul 26; 77(4):312-4.
  50. Darras BT. Child neurology residency training in neuromuscular disorders. Semin Pediatr Neurol. 2011 Jun; 18(2):116-9.
  51. 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.
  52. 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.
  53. 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.
  54. 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.
  55. 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. Conf Proc IEEE Eng Med Biol Soc. 2011; 2011:1871-4.
  56. 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.
  57. 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.
  58. 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.
  59. 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.
  60. 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.
  61. 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.
  62. 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 9; 74(10):833-8.
  63. Maski KP, Jeste SS, Darras BT. Child neurology: past, present, and future: part 2: Present training structure. Neurology. 2010 Feb 9; 74(6):e17-9.
  64. 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.
  65. 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.
  66. 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.
  67. Chiang LM, Darras BT, Kang PB. Juvenile myasthenia gravis. Muscle Nerve. 2009 Apr; 39(4):423-31.
  68. 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.
  69. 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.
  70. 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.
  71. 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.
  72. Cardamone M, Darras BT, Ryan MM. Inherited myopathies and muscular dystrophies. Semin Neurol. 2008 Apr; 28(2):250-9.
  73. Darras BT, Kang PB. Clinical trials in spinal muscular atrophy. Curr Opin Pediatr. 2007 Dec; 19(6):675-9.
  74. 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.
  75. 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.
  76. 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.
  77. 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.
  78. 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.
  79. 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.
  80. Anselm IA, Darras BT. Catecholamine toxicity in aromatic L-amino acid decarboxylase deficiency. Pediatr Neurol. 2006 Aug; 35(2):142-4.
  81. 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.
  82. 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.
  83. 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.
  84. 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.
  85. Diab M, Darras BT, Shapiro F. Scapulothoracic fusion for facioscapulohumeral muscular dystrophy. J Bone Joint Surg Am. 2005 Oct; 87(10):2267-75.
  86. Fleming FJ, Vytopil M, Chaitow J, Jones HR, Darras BT, Ryan MM. Thalidomide neuropathy in childhood. Neuromuscul Disord. 2005 Feb; 15(2):172-6.
  87. Ullrich NJ, Riviello JJ, Darras BT, Donner EJ. Electroencephalographic correlate of juvenile Huntington's disease. J Child Neurol. 2004 Jul; 19(7):541-3.
  88. Darras BT, Jones HR. Neuromuscular problems of the critically ill neonate and child. Semin Pediatr Neurol. 2004 Jun; 11(2):147-68.
  89. 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.
  90. 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.
  91. 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.
  92. 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.
  93. Ryan MM, Darras BT, Soul JS. Peroneal neuropathy from ankle-foot orthoses. Pediatr Neurol. 2003 Jul; 29(1):72-4.
  94. 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.
  95. 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.
  96. 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.
  97. Hsich GE, Davis RG, Darras BT. Osteoid osteoma presenting with focal neurologic signs. Pediatr Neurol. 2002 Feb; 26(2):148-52.
  98. 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.
  99. 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 1; 102(4):359-67.
  100. 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.
  101. 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 1; 98(1):101-2.
  102. Darras BT, Jones HR. Diagnosis of pediatric neuromuscular disorders in the era of DNA analysis. Pediatr Neurol. 2000 Oct; 23(4):289-300.
  103. 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.
  104. Darras BT, Friedman NR. Metabolic myopathies: a clinical approach; part II. Pediatr Neurol. 2000 Mar; 22(3):171-81.
  105. 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 1; 97(3):1212-7.
  106. Darras BT, Friedman NR. Metabolic myopathies: a clinical approach; part I. Pediatr Neurol. 2000 Feb; 22(2):87-97.
  107. Jones HR, Darras BT. Acute care pediatric electromyography. Muscle Nerve Suppl. 2000; (9):S53-62.
  108. Jones HR, Darras BT. Acute care pediatric electromyography. Muscle Nerve Suppl. 2000; 9:S53-62.
  109. Darras BT. Role of EMG in the evaluation of presumed myopathies in the era of DNA analysis. Suppl Clin Neurophysiol. 2000; 53:133-8.
  110. 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.
  111. Darras BT. Neuromuscular disorders in the newborn. Clin Perinatol. 1997 Dec; 24(4):827-44.
  112. 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.
  113. Morse RP, Darras BT, Ye Z, Wu JK. Clonal analysis of human astrocytomas. J Neurooncol. 1994; 21(2):151-7.
  114. 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.
  115. 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.
  116. 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.
  117. 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.
  118. Morse RP, Bennish ML, Darras BT. Eastern equine encephalitis presenting with a focal brain lesion. Pediatr Neurol. 1992 Nov-Dec; 8(6):473-5.
  119. 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.
  120. 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.
  121. 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.
  122. Francke U, Ochs HD, Darras BT, Swaroop A. Origin of mutations in two families with X-linked chronic granulomatous disease. Blood. 1990 Aug 1; 76(3):602-6.
  123. Darras BT. Molecular genetics of Duchenne and Becker muscular dystrophy. J Pediatr. 1990 Jul; 117(1 Pt 1):1-15.
  124. 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.
  125. 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.
  126. 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.
  127. 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.
  128. 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.
  129. 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.
  130. 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.
  131. 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.
  132. Darras BT, Ampola MG, Dietz WH, Gilmore HE. Intermittent dystonia in Hartnup disease. Pediatr Neurol. 1989 Mar-Apr; 5(2):118-20.
  133. 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 5; 264(4):2143-9.
  134. 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.
  135. 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.
  136. 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.
  137. 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.
  138. 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.
  139. 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.
  140. 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.
  141. 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.
  142. 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.
  143. 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.
  144. 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.
  145. 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.
  146. Leggiadro RJ, Darras BT. Viral and bacterial pathogens of suspected sepsis in young infants. Pediatr Infect Dis. 1983 Jul-Aug; 2(4):287-9.
  147. Darras BT, Annunziato D, Leggiadro RJ. Lyme disease with neurologic abnormalities. Pediatr Infect Dis. 1983 Jan-Feb; 2(1):47-9.
  148. 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.
  149. 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 4; 73(5):400-1.
  150. Wu JS, Darras BT, Rutkove SB. Assessing spinal muscular atrophy with quantitative ultrasound. Neurology. 2010 Aug 10; 75(6):526-31.
  151. Rutkove SB, Gregas MC, Darras BT. Electrical impedance myography in spinal muscular atrophy: a longitudinal study. Muscle Nerve. 2012 May; 45(5):642-7.
  152. 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 8; 76(10):933; author reply 933-4.
  153. 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.
  154. 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.
  155. 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.
  156. 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.
  157. 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.
  158. 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.
  159. 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.
  160. 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 5; 93(6):1108-17.
  161. 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.
  162. 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.
  163. 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.
  164. 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.
  165. 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.
  166. 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 Nov; 26(11):754-759.
  167. 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 Dec; 54(6):1097-1107.
  168. 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. 2016 Oct 06.
  169. 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.
  170. 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.
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We are grateful to have been ranked #1 on U.S. News & World Report's list of the best children's hospitals in the nation for the third year in a row, an honor we could not have achieved without the patients and families who inspire us to do our very best for them. Thanks to you, Boston Children's is a place where we can write the greatest children's stories ever told.”
- Sandra L. Fenwick, President and CEO

Boston Children's Hospital 300 Longwood Avenue, Boston, MA 02115 617-355-6000 | 800-355-7944

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