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Last Name
Institution

Basil T. Darras, M.D.

TitleProfessor of Neurology
InstitutionChildren's Hospital Boston
DepartmentNeurology
AddressChildrens Hospital
Neurology, Fegan II
300 Longwood Ave
Boston MA 02115
Phone617/355-6388
Fax617/730-0279

 Bibliographic 
 selected publications
Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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  1. 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(1):100-5.
    View in: PubMed
  2. 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; 5.
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  3. 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.
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  4. Singh P, Liew WK, Darras BT. Current advances in drug development in spinal muscular atrophy. Curr Opin Pediatr. 2013 Dec; 25(6):682-8.
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  5. 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.
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  6. 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.
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  7. Darras BT, Tawil R. Predicting hearing loss in facioscapulohumeral muscular dystrophy. Neurology. 2013 Oct 15; 81(16):1370-1.
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  8. 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.
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  9. Liew WK, Darras BT. Teaching NeuroImages: Characteristic phenotype of Ullrich congenital muscular dystrophy. Neurology. 2013 Aug 13; 81(7):e44-5.
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  10. 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.
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  11. 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 1; 70(6):788-91.
    View in: PubMed
  12. 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 in: PubMed
  13. 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.
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  14. Karakis I, Gregas M, Darras BT, Kang PB, Royden Jones H. Clinical correlates of charcot-marie-tooth disease in patients with pes cavus deformities. Muscle Nerve. 2013 Apr; 47(4):488-92.
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  15. Paciorkowski AR, Darras BT. Making sense of genetic heterogeneity: Emergence of pathways in developmental brain disorders. Neurology. 2013 Jan 29; 80(5):426-7.
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  16. 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.
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  17. 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.
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  18. 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.
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  19. 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.
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  20. 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.
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  21. Rutkove SB, Gregas MC, Darras BT. Electrical impedance myography in spinal muscular atrophy: A longitudinal study. Muscle Nerve. 2012 May; 45(5):642-7.
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  22. 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.
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  23. 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.
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  24. Darras BT. More can be less: SMN1 gene duplications are associated with sporadic ALS. Neurology. 2012 Mar 13; 78(11):770-1.
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  25. Markowitz JA, Singh P, Darras BT. Spinal muscular atrophy: a clinical and research update. Pediatr Neurol. 2012 Jan; 46(1):1-12.
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  26. McMillan HJ, Darras BT, Kang PB. Autoimmune neuromuscular disorders in childhood. Curr Treat Options Neurol. 2011 Dec; 13(6):590-607.
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  27. 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.
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  28. Darras BT. Non-5q spinal muscular atrophies: the alphanumeric soup thickens. Neurology. 2011 Jul 26; 77(4):312-4.
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  29. Darras BT. Child neurology residency training in neuromuscular disorders. Semin Pediatr Neurol. 2011 Jun; 18(2):116-9.
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  30. 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.
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  31. 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.
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  32. 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.
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  33. 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.
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  34. 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.
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  35. 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.
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  36. 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.
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  37. 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.
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  38. 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.
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  39. 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.
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  40. 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.
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  41. Wu JS, Darras BT, Rutkove SB. Assessing spinal muscular atrophy with quantitative ultrasound. Neurology. 2010 Aug 10; 75(6):526-31.
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  42. 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.
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  43. 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.
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  44. 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.
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  45. 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.
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  46. 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.
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  47. 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.
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  48. 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; 10:66.
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  49. 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.
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  50. 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.
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  51. Chiang LM, Darras BT, Kang PB. Juvenile myasthenia gravis. Muscle Nerve. 2009 Apr; 39(4):423-31.
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  52. 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.
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  53. 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.
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  54. 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.
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  55. 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.
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  56. Cardamone M, Darras BT, Ryan MM. Inherited myopathies and muscular dystrophies. Semin Neurol. 2008 Apr; 28(2):250-9.
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  57. Darras BT, Kang PB. Clinical trials in spinal muscular atrophy. Curr Opin Pediatr. 2007 Dec; 19(6):675-9.
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  58. 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; 8:115.
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  59. 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.
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  60. 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.
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  61. 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.
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  62. 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.
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  63. 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.
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  64. 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.
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  65. Anselm IA, Darras BT. Catecholamine toxicity in aromatic L-amino acid decarboxylase deficiency. Pediatr Neurol. 2006 Aug; 35(2):142-4.
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  66. 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.
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  67. 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.
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  68. 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.
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  69. 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.
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  70. Diab M, Darras BT, Shapiro F. Scapulothoracic fusion for facioscapulohumeral muscular dystrophy. J Bone Joint Surg Am. 2005 Oct; 87(10):2267-75.
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  71. Fleming FJ, Vytopil M, Chaitow J, Jones HR, Darras BT, Ryan MM. Thalidomide neuropathy in childhood. Neuromuscul Disord. 2005 Feb; 15(2):172-6.
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  72. Ullrich NJ, Riviello JJ, Darras BT, Donner EJ. Electroencephalographic correlate of juvenile Huntington's disease. J Child Neurol. 2004 Jul; 19(7):541-3.
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  73. Darras BT, Jones HR. Neuromuscular problems of the critically ill neonate and child. Semin Pediatr Neurol. 2004 Jun; 11(2):147-68.
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  74. 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.
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  75. 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.
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  76. 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.
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  77. 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.
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  78. Ryan MM, Darras BT, Soul JS. Peroneal neuropathy from ankle-foot orthoses. Pediatr Neurol. 2003 Jul; 29(1):72-4.
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  79. 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.
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  80. 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.
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  81. 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.
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  82. 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.
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  83. Hsich GE, Davis RG, Darras BT. Osteoid osteoma presenting with focal neurologic signs. Pediatr Neurol. 2002 Feb; 26(2):148-52.
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  84. 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.
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  85. 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.
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  86. 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.
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  87. 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.
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  88. Darras BT, Jones HR. Diagnosis of pediatric neuromuscular disorders in the era of DNA analysis. Pediatr Neurol. 2000 Oct; 23(4):289-300.
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  89. 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.
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  90. Darras BT, Friedman NR. Metabolic myopathies: a clinical approach; part II. Pediatr Neurol. 2000 Mar; 22(3):171-81.
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  91. Darras BT, Friedman NR. Metabolic myopathies: a clinical approach; part I. Pediatr Neurol. 2000 Feb; 22(2):87-97.
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  92. 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.
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  93. Darras BT. Role of EMG in the evaluation of presumed myopathies in the era of DNA analysis. Suppl Clin Neurophysiol. 2000; 53:133-8.
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  94. Jones HR, Darras BT. Acute care pediatric electromyography. Muscle Nerve Suppl. 2000; 9:S53-62.
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  95. Jones HR, Darras BT. Acute care pediatric electromyography. Muscle Nerve Suppl. 2000; (9):S53-62.
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  96. 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.
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  97. Darras BT. Neuromuscular disorders in the newborn. Clin Perinatol. 1997 Dec; 24(4):827-44.
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  98. 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.
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  99. Morse RP, Darras BT, Ye Z, Wu JK. Clonal analysis of human astrocytomas. J Neurooncol. 1994; 21(2):151-7.
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  100. 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.
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  101. 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.
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  102. 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.
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  103. 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.
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  104. Morse RP, Bennish ML, Darras BT. Eastern equine encephalitis presenting with a focal brain lesion. Pediatr Neurol. 1992 Nov-Dec; 8(6):473-5.
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  105. 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.
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  106. 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.
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  107. 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.
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  108. 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.
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  109. Darras BT. Molecular genetics of Duchenne and Becker muscular dystrophy. J Pediatr. 1990 Jul; 117(1 Pt 1):1-15.
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  110. 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.
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  111. 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.
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  112. 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.
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  113. 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.
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  114. 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.
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  115. 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.
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  116. 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.
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  117. Darras BT, Ampola MG, Dietz WH, Gilmore HE. Intermittent dystonia in Hartnup disease. Pediatr Neurol. 1989 Mar-Apr; 5(2):118-20.
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  118. 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.
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  119. 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.
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  120. 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.
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  121. 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.
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  122. 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.
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  123. 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.
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  124. 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.
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  125. 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.
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  126. 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.
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  127. 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.
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  128. 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.
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  129. 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.
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  130. 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.
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  131. 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.
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  132. 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.
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  133. Leggiadro RJ, Darras BT. Viral and bacterial pathogens of suspected sepsis in young infants. Pediatr Infect Dis. 1983 Jul-Aug; 2(4):287-9.
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  134. Darras BT, Annunziato D, Leggiadro RJ. Lyme disease with neurologic abnormalities. Pediatr Infect Dis. 1983 Jan-Feb; 2(1):47-9.
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  135. 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.
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