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Basil T. Darras, M.D.

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Research
The research activities and funding listed below are automatically derived from NIH ExPORTER and other sources, which might result in incorrect or missing items. Faculty can login to make corrections and additions.
  1. U24NS107183 (DARRAS, BASIL T) Jul 15, 2018 - Jun 30, 2023
    NIH/NINDS
    Boston Children's Hospital and Beth Israel Deaconess Medical Center NeuroNEXT Clinical Research Site
    Role: Principal Investigator
  2. U10NS077269 (DARRAS, BASIL T) Sep 30, 2011 - Aug 31, 2018
    NIH/NINDS
    NINDS NEXT: Children's Hospital Boston Clinical Research Site
    Role: Principal Investigator
  3. R01AR060850 (RUTKOVE, SEWARD B.) Sep 17, 2011 - Jul 31, 2015
    NIH/NIAMS
    Electrical impedance myography and quantitative ultrasound in Duchenne muscular d
    Role: Principal Investigator
  4. K08NS001367 (DARRAS, BASIL T) Jun 1, 1989 - May 31, 1994
    NIH/NINDS
    MOLECULAR STUDIES OF SODIUM CHANNELS IN SKELETAL MUSCLE
    Role: Principal Investigator
  5. M01RR002172 (MANDELL, JAMES WILLIAM) Jan 1, 1983 - Mar 31, 2009
    NIH/NCRR
    General Clinical Research Center
    Role: Co-Principal Investigator

Bibliographic
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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PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
  1. 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 Apr; 59(4):426-430. PMID: 30677148.
    Citations:    Fields:    
  2. 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 Mar; 7(3):e552. PMID: 30688039.
    Citations:    Fields:    
  3. 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. 2018 Nov 01. PMID: 30387720.
    Citations:    Fields:    
  4. 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 Nov; 58(5):639-645. PMID: 30028519.
    Citations:    Fields:    
  5. 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. PMID: 30254196.
    Citations:    Fields:    Translation:HumansAnimalsCells
  6. Darras BT, De Vivo DC. Precious SMA natural history data: A benchmark to measure future treatment successes. Neurology. 2018 Aug 21; 91(8):337-339. PMID: 30045956.
    Citations:    Fields:    
  7. 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. PMID: 30094386.
    Citations:    
  8. 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. PMID: 29924070.
    Citations:    Fields:    Translation:Humans
  9. 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. PMID: 29944707.
    Citations:    Fields:    Translation:Humans
  10. 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. PMID: 29793540.
    Citations:    Fields:    
  11. 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. PMID: 29577809.
    Citations:    Fields:    
  12. 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 Jun; 28(6):512-519. PMID: 29699728.
    Citations:    Fields:    
  13. 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. PMID: 29556255.
    Citations:    
  14. 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. PMID: 29443664.
    Citations: 16     Fields:    Translation:HumansCTClinical Trials
  15. Karakis I, Georghiou S, Jones HR, Darras BT, Kang PB. Electrophysiologic Features of Radial Neuropathy in Childhood and Adolescence. Pediatr Neurol. 2018 Apr; 81:14-18. PMID: 29506771.
    Citations:    Fields:    
  16. 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. PMID: 29614695.
    Citations:    Fields:    Translation:HumansPHPublic Health
  17. 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. PMID: 29865090.
    Citations:    Fields:    Translation:Humans
  18. 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. PMID: 29149772.
    Citations: 11     Fields:    Translation:Humans
  19. Rutkove SB, Darras BT. NeuroNEXT is at your service. Ann Neurol. 2017 Dec; 82(6):857-858. PMID: 29149769.
    Citations: 2     Fields:    
  20. 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. Am J Med Genet A. 2018 02; 176(2):311-318. PMID: 29193663.
    Citations: 1     Fields:    
  21. 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. PMID: 29091570.
    Citations: 49     Fields:    Translation:HumansCTClinical Trials
  22. 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. PMID: 28833292.
    Citations:    Fields:    
  23. Finkel RS, Darras BT. X-linked myotubular myopathy: Living longer and awaiting treatment. Neurology. 2017 Sep 26; 89(13):1316-1317. PMID: 28842443.
    Citations:    Fields:    
  24. 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. PMID: 28241384.
    Citations: 4     Fields:    Translation:Humans
  25. 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. PMID: 28076894.
    Citations: 3     Fields:    Translation:Humans
  26. 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. PMID: 28450193.
    Citations: 3     Fields:    Translation:Humans
  27. 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. PMID: 28231823.
    Citations: 3     Fields:    Translation:Humans
  28. 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. PMID: 28222119.
    Citations: 5     Fields:    Translation:Humans
  29. 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. PMID: 28319875.
    Citations:    Fields:    Translation:HumansCells
  30. Al-Ghamdi F, Darras BT, Ghosh PS. Spectrum of Nondystrophic Skeletal Muscle Channelopathies in Children. Pediatr Neurol. 2017 05; 70:26-33. PMID: 28325641.
    Citations:    Fields:    Translation:Humans
  31. 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. PMID: 27701745.
    Citations: 2     Fields:    Translation:Humans
  32. 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. PMID: 27668699.
    Citations: 1     Fields:    Translation:HumansCells
  33. 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. PMID: 27615598.
    Citations:    Fields:    Translation:HumansCells
  34. 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. PMID: 27825055.
    Citations:    Fields:    Translation:HumansAnimals
  35. 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. PMID: 27708273.
    Citations: 2     Fields:    Translation:HumansCells
  36. 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. PMID: 27121348.
    Citations: 1     Fields:    Translation:Humans
  37. 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. PMID: 27769560.
    Citations: 6     Fields:    Translation:Humans
  38. 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. PMID: 27567409.
    Citations: 1     Fields:    Translation:Humans
  39. 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. PMID: 27671242.
    Citations: 1     Fields:    Translation:Humans
  40. 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. Conf Proc IEEE Eng Med Biol Soc. 2016 08; 2016:2865-2868. PMID: 28324973.
    Citations:    Fields:    Translation:Humans
  41. 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. PMID: 27417736.
    Citations:    Fields:    Translation:Humans
  42. 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. PMID: 26930423.
    Citations: 1     Fields:    Translation:Humans
  43. 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. PMID: 26865511.
    Citations: 79     Fields:    Translation:HumansCTClinical Trials
  44. 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. PMID: 26900585.
    Citations: 19     
  45. 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. PMID: 26966799.
    Citations: 1     Fields:    Translation:Humans
  46. 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. PMID: 26776503; PMCID: PMC4762230.
    Citations: 10     Fields:    Translation:Humans
  47. 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. PMID: 25846132.
    Citations: 4     Fields:    Translation:Humans
  48. Brandsema JF, Darras BT. Dystrophinopathies. Semin Neurol. 2015 Aug; 35(4):369-84. PMID: 26502761.
    Citations: 1     Fields:    Translation:Humans
  49. 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. PMID: 26111847.
    Citations: 1     Fields:    Translation:Humans
  50. Darras BT. Spinal muscular atrophies. Pediatr Clin North Am. 2015 Jun; 62(3):743-66. PMID: 26022173.
    Citations: 8     Fields:    Translation:Humans
  51. 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. PMID: 25056178; PMCID: PMC4305351.
    Citations: 8     Fields:    Translation:Humans
  52. 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. PMID: 25802879; PMCID: PMC4367081.
    Citations: 1     Fields:    
  53. 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. PMID: 24862337; PMCID: PMC4241391.
    Citations: 7     Fields:    Translation:Humans
  54. 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. PMID: 25533276; PMCID: PMC4447621.
    Citations: 1     Fields:    Translation:HumansCTClinical Trials
  55. Bertini E, Darras BT. Congenital myopathies: Rebuilding the natural history, one gene at a time. Neurology. 2015 Jan 06; 84(1):15-6. PMID: 25428690.
    Citations:    Fields:    Translation:Humans
  56. 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. PMID: 25447928; PMCID: PMC4336219.
    Citations: 7     Fields:    Translation:Humans
  57. 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. PMID: 24935909.
    Citations:    Fields:    Translation:HumansCells
  58. 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. PMID: 25080519; PMCID: PMC4155049.
    Citations: 26     Fields:    Translation:Humans
  59. 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. PMID: 24929900; PMCID: PMC4234696.
    Citations: 9     Fields:    Translation:HumansAnimals
  60. 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. PMID: 24218288; PMCID: PMC4102884.
    Citations: 13     Fields:    Translation:Humans
  61. 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. PMID: 24375325.
    Citations:    Fields:    Translation:Humans
  62. 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. PMID: 24590389.
    Citations: 4     Fields:    Translation:Humans
  63. 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. PMID: 23893312; PMCID: PMC4090017.
    Citations: 4     Fields:    Translation:HumansCells
  64. 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. PMID: 24814059; PMCID: PMC4063877.
    Citations: 16     Fields:    Translation:Humans
  65. 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. PMID: 24842254; PMCID: PMC4197452.
    Citations: 6     Fields:    Translation:Humans
  66. 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. PMID: 24395319.
    Citations: 7     Fields:    Translation:Humans
  67. 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. PMID: 24459612; PMCID: PMC3871420.
    Citations: 9     
  68. 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. PMID: 24240286; PMCID: PMC4008827.
    Citations:    Fields:    Translation:Humans
  69. Singh P, Liew WK, Darras BT. Current advances in drug development in spinal muscular atrophy. Curr Opin Pediatr. 2013 Dec; 25(6):682-8. PMID: 24240287.
    Citations: 5     Fields:    Translation:HumansAnimals
  70. 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. PMID: 24268659; PMCID: PMC3852928.
    Citations: 34     Fields:    Translation:HumansAnimalsCells
  71. 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. PMID: 24138947.
    Citations: 1     Fields:    Translation:Humans
  72. Darras BT, Tawil R. Predicting hearing loss in facioscapulohumeral muscular dystrophy. Neurology. 2013 Oct 15; 81(16):1370-1. PMID: 24042094.
    Citations:    Fields:    Translation:Humans
  73. 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. PMID: 24128691; PMCID: PMC3851942.
    Citations: 10     Fields:    Translation:Humans
  74. Liew WK, Darras BT. Teaching NeuroImages: characteristic phenotype of Ullrich congenital muscular dystrophy. Neurology. 2013 Aug 13; 81(7):e44-5. PMID: 23940025; PMCID: PMC3775691.
    Citations:    Fields:    Translation:Humans
  75. 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. PMID: 23815709; PMCID: PMC3711885.
    Citations: 5     Fields:    Translation:HumansCells
  76. 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. PMID: 23699708.
    Citations: 6     Fields:    Translation:Humans
  77. 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. PMID: 23726376; PMCID: PMC3743677.
    Citations: 13     Fields:    Translation:Humans
  78. 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. PMID: 23565191.
    Citations: 7     Fields:    Translation:Humans
  79. 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. PMID: 23460299.
    Citations: 3     Fields:    Translation:Humans
  80. Paciorkowski AR, Darras BT. Making sense of genetic heterogeneity: Emergence of pathways in developmental brain disorders. Neurology. 2013 Jan 29; 80(5):426-7. PMID: 23284070.
    Citations: 2     Fields:    Translation:Humans
  81. 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). PMID: 23894248.
    Citations: 7     
  82. 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. PMID: 23140945.
    Citations: 3     Fields:    Translation:Humans
  83. 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. PMID: 23077013; PMCID: PMC3525313.
    Citations: 30     Fields:    Translation:Humans
  84. 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. PMID: 22914369.
    Citations: 8     Fields:    Translation:Humans
  85. 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. PMID: 22759684.
    Citations: 1     Fields:    Translation:Humans
  86. 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. PMID: 22786588; PMCID: PMC3400094.
    Citations: 6     Fields:    Translation:Humans
  87. Rutkove SB, Gregas MC, Darras BT. Electrical impedance myography in spinal muscular atrophy: a longitudinal study. Muscle Nerve. 2012 May; 45(5):642-7. PMID: 22499089.
    Citations: 22     Fields:    Translation:Humans
  88. 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. PMID: 22396310; PMCID: PMC3374402.
    Citations: 31     Fields:    Translation:HumansCells
  89. 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. PMID: 22371254; PMCID: PMC3332380.
    Citations: 10     Fields:    Translation:HumansAnimalsCells
  90. Darras BT. More can be less: SMN1 gene duplications are associated with sporadic ALS. Neurology. 2012 Mar 13; 78(11):770-1. PMID: 22323756.
    Citations: 1     Fields:    Translation:Humans
  91. Markowitz JA, Singh P, Darras BT. Spinal muscular atrophy: a clinical and research update. Pediatr Neurol. 2012 Jan; 46(1):1-12. PMID: 22196485.
    Citations: 29     Fields:    Translation:Humans
  92. McMillan HJ, Darras BT, Kang PB. Autoimmune neuromuscular disorders in childhood. Curr Treat Options Neurol. 2011 Dec; 13(6):590-607. PMID: 21912840; PMCID: PMC3207132.
    Citations:    
  93. 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. PMID: 21940700.
    Citations: 18     Fields:    Translation:Humans
  94. Darras BT. Non-5q spinal muscular atrophies: the alphanumeric soup thickens. Neurology. 2011 Jul 26; 77(4):312-4. PMID: 21715708.
    Citations: 5     Fields:    Translation:HumansCells
  95. Darras BT. Child neurology residency training in neuromuscular disorders. Semin Pediatr Neurol. 2011 Jun; 18(2):116-9. PMID: 22036495.
    Citations:    Fields:    Translation:Humans
  96. 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. PMID: 21572051.
    Citations: 7     Fields:    Translation:Humans
  97. 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. PMID: 21403109; PMCID: PMC3271574.
    Citations: 2     Fields:    Translation:Humans
  98. 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. PMID: 21383332.
    Citations: 1     Fields:    Translation:Humans
  99. 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. PMID: 21320981; PMCID: PMC3839315.
    Citations: 29     Fields:    Translation:Humans
  100. 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. PMID: 21254082.
    Citations: 1     Fields:    Translation:Humans
  101. 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. PMID: 22090068.
    Citations: 7     Fields:    Translation:Humans
  102. 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. PMID: 22254695; PMCID: PMC3398735.
    Citations:    Fields:    Translation:HumansAnimals
  103. 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. PMID: 21149430.
    Citations: 9     Fields:    Translation:Humans
  104. 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. PMID: 21104866.
    Citations: 29     Fields:    Translation:Humans
  105. 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. PMID: 20929908.
    Citations: 8     Fields:    Translation:Humans
  106. 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. PMID: 20937953.
    Citations: 18     Fields:    Translation:Humans
  107. Wu JS, Darras BT, Rutkove SB. Assessing spinal muscular atrophy with quantitative ultrasound. Neurology. 2010 Aug 10; 75(6):526-31. PMID: 20697104; PMCID: PMC2918474.
    Citations: 13     Fields:    Translation:Humans
  108. 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. PMID: 20610128.
    Citations:    Fields:    Translation:Humans
  109. 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. PMID: 20610154; PMCID: PMC2902766.
    Citations: 8     Fields:    Translation:Humans
  110. 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. PMID: 20513101; PMCID: PMC2965738.
    Citations: 5     Fields:    Translation:HumansCells
  111. 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. PMID: 20211907; PMCID: PMC2839195.
    Citations: 21     Fields:    Translation:Humans
  112. 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. PMID: 20142608.
    Citations: 1     Fields:    Translation:Humans
  113. 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. PMID: 19645058.
    Citations:    Fields:    Translation:Humans
  114. 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. PMID: 19835634; PMCID: PMC2781300.
    Citations: 4     Fields:    Translation:Humans
  115. 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. PMID: 19652145; PMCID: PMC2833268.
    Citations: 15     Fields:    Translation:Humans
  116. 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. PMID: 19520274; PMCID: PMC2718786.
    Citations: 5     Fields:    Translation:HumansCells
  117. Chiang LM, Darras BT, Kang PB. Juvenile myasthenia gravis. Muscle Nerve. 2009 Apr; 39(4):423-31. PMID: 19229875.
    Citations: 12     Fields:    Translation:Humans
  118. 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. PMID: 18716706.
    Citations: 14     Fields:    Translation:Humans
  119. 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. PMID: 18658074.
    Citations: 2     Fields:    Translation:Humans
  120. 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. PMID: 18486826.
    Citations:    Fields:    Translation:Humans
  121. 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. PMID: 18443316.
    Citations: 3     Fields:    Translation:HumansCells
  122. Cardamone M, Darras BT, Ryan MM. Inherited myopathies and muscular dystrophies. Semin Neurol. 2008 Apr; 28(2):250-9. PMID: 18351526.
    Citations: 11     Fields:    Translation:HumansCells
  123. Darras BT, Kang PB. Clinical trials in spinal muscular atrophy. Curr Opin Pediatr. 2007 Dec; 19(6):675-9. PMID: 18025935.
    Citations: 9     Fields:    Translation:HumansAnimalsCells
  124. 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. PMID: 18036232; PMCID: PMC2216011.
    Citations: 8     Fields:    Translation:Humans
  125. 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. PMID: 17885779.
    Citations: 16     Fields:    Translation:Humans
  126. 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. PMID: 17658255.
    Citations: 29     Fields:    Translation:Humans
  127. 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. PMID: 17438221.
    Citations: 9     Fields:    Translation:Humans
  128. 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. PMID: 17304138.
    Citations: 13     Fields:    Translation:Humans
  129. 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. PMID: 17160903; PMCID: PMC1785312.
    Citations: 64     Fields:    Translation:HumansCells
  130. 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. PMID: 17030784.
    Citations: 1     Fields:    Translation:Humans
  131. Anselm IA, Darras BT. Catecholamine toxicity in aromatic L-amino acid decarboxylase deficiency. Pediatr Neurol. 2006 Aug; 35(2):142-4. PMID: 16876014.
    Citations: 1     Fields:    Translation:Humans
  132. 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. PMID: 16832103.
    Citations: 4     Fields:    Translation:Humans
  133. 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. PMID: 16797181.
    Citations: 3     Fields:    Translation:HumansCells
  134. 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. PMID: 16702878.
    Citations: 8     Fields:    Translation:Humans
  135. 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. PMID: 16417872.
    Citations: 27     Fields:    Translation:Humans
  136. Diab M, Darras BT, Shapiro F. Scapulothoracic fusion for facioscapulohumeral muscular dystrophy. J Bone Joint Surg Am. 2005 Oct; 87(10):2267-75. PMID: 16203893.
    Citations: 6     Fields:    Translation:Humans
  137. Fleming FJ, Vytopil M, Chaitow J, Jones HR, Darras BT, Ryan MM. Thalidomide neuropathy in childhood. Neuromuscul Disord. 2005 Feb; 15(2):172-6. PMID: 15694139.
    Citations: 4     Fields:    Translation:Humans
  138. Ullrich NJ, Riviello JJ, Darras BT, Donner EJ. Electroencephalographic correlate of juvenile Huntington's disease. J Child Neurol. 2004 Jul; 19(7):541-3. PMID: 15526960.
    Citations: 1     Fields:    Translation:Humans
  139. Darras BT, Jones HR. Neuromuscular problems of the critically ill neonate and child. Semin Pediatr Neurol. 2004 Jun; 11(2):147-68. PMID: 15259868.
    Citations:    Fields:    Translation:Humans
  140. 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. PMID: 15052618.
    Citations: 3     Fields:    Translation:Humans
  141. 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. PMID: 14681888.
    Citations: 1     Fields:    Translation:Humans
  142. 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. PMID: 14615364.
    Citations: 12     Fields:    Translation:HumansCells
  143. 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. PMID: 14561499.
    Citations: 4     Fields:    Translation:Humans
  144. Ryan MM, Darras BT, Soul JS. Peroneal neuropathy from ankle-foot orthoses. Pediatr Neurol. 2003 Jul; 29(1):72-4. PMID: 13679128.
    Citations: 1     Fields:    Translation:Humans
  145. 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. PMID: 12791042.
    Citations: 7     Fields:    Translation:HumansCells
  146. 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. PMID: 12839082.
    Citations: 2     Fields:    Translation:Humans
  147. 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. PMID: 12149059.
    Citations: 8     Fields:    Translation:HumansCells
  148. 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. PMID: 11801399.
    Citations: 6     Fields:    Translation:HumansCells
  149. Hsich GE, Davis RG, Darras BT. Osteoid osteoma presenting with focal neurologic signs. Pediatr Neurol. 2002 Feb; 26(2):148-52. PMID: 11897482.
    Citations: 4     Fields:    Translation:Humans
  150. 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. PMID: 11710958; PMCID: PMC59832.
    Citations: 20     Fields:    Translation:HumansCells
  151. 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. PMID: 11503164.
    Citations: 17     Fields:    Translation:HumansCells
  152. 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. PMID: 11453451.
    Citations: 3     Fields:    Translation:Humans
  153. 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. PMID: 11426446.
    Citations:    Fields:    Translation:Humans
  154. Darras BT, Jones HR. Diagnosis of pediatric neuromuscular disorders in the era of DNA analysis. Pediatr Neurol. 2000 Oct; 23(4):289-300. PMID: 11068161.
    Citations: 1     Fields:    Translation:Humans
  155. 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. PMID: 10874323.
    Citations:    Fields:    Translation:HumansCells
  156. Darras BT, Friedman NR. Metabolic myopathies: a clinical approach; part II. Pediatr Neurol. 2000 Mar; 22(3):171-81. PMID: 10734246.
    Citations: 3     Fields:    Translation:Humans
  157. Darras BT, Friedman NR. Metabolic myopathies: a clinical approach; part I. Pediatr Neurol. 2000 Feb; 22(2):87-97. PMID: 10738913.
    Citations: 13     Fields:    Translation:Humans
  158. 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. PMID: 10655510; PMCID: PMC15572.
    Citations: 22     Fields:    Translation:HumansCells
  159. Darras BT. Role of EMG in the evaluation of presumed myopathies in the era of DNA analysis. Suppl Clin Neurophysiol. 2000; 53:133-8. PMID: 12740987.
    Citations:    Fields:    Translation:Humans
  160. Jones HR, Darras BT. Acute care pediatric electromyography. Muscle Nerve Suppl. 2000; 9:S53-62. PMID: 11135285.
    Citations:    Fields:    Translation:Humans
  161. Jones HR, Darras BT. Acute care pediatric electromyography. Muscle Nerve Suppl. 2000; (9):S53-62. PMID: 23544261.
    Citations:    
  162. 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. PMID: 9674911.
    Citations:    Fields:    Translation:Cells
  163. Darras BT. Neuromuscular disorders in the newborn. Clin Perinatol. 1997 Dec; 24(4):827-44. PMID: 9395865.
    Citations: 1     Fields:    Translation:Humans
  164. 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. PMID: 8727151.
    Citations: 1     Fields:    Translation:HumansCells
  165. Morse RP, Darras BT, Ye Z, Wu JK. Clonal analysis of human astrocytomas. J Neurooncol. 1994; 21(2):151-7. PMID: 7861191.
    Citations: 1     Fields:    Translation:HumansCells
  166. 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. PMID: 7903434.
    Citations: 11     Fields:    Translation:HumansCells
  167. 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. PMID: 8503457; PMCID: PMC1682263.
    Citations: 7     Fields:    Translation:HumansCells
  168. 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. PMID: 8098856.
    Citations: 4     Fields:    Translation:HumansCells
  169. 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. PMID: 8095979.
    Citations: 1     Fields:    Translation:HumansCells
  170. 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. PMID: 27819586.
    Citations:    
  171. Morse RP, Bennish ML, Darras BT. Eastern equine encephalitis presenting with a focal brain lesion. Pediatr Neurol. 1992 Nov-Dec; 8(6):473-5. PMID: 1476580.
    Citations: 3     Fields:    Translation:HumansCells
  172. 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. PMID: 1443413.
    Citations: 4     Fields:    Translation:HumansCells
  173. 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. PMID: 1351257.
    Citations: 3     Fields:    Translation:HumansCells
  174. 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. PMID: 1646156.
    Citations: 6     Fields:    Translation:HumansAnimalsCells
  175. 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. PMID: 1974155.
    Citations: 4     Fields:    Translation:HumansCells
  176. Darras BT. Molecular genetics of Duchenne and Becker muscular dystrophy. J Pediatr. 1990 Jul; 117(1 Pt 1):1-15. PMID: 2196352.
    Citations: 10     Fields:    Translation:HumansCells
  177. 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. PMID: 2328993.
    Citations: 11     Fields:    Translation:HumansAnimalsCells
  178. 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. PMID: 2157630.
    Citations: 7     Fields:    Translation:HumansAnimalsCells
  179. 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. PMID: 2491009; PMCID: PMC1683519.
    Citations: 228     Fields:    Translation:HumansCells
  180. 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. PMID: 2510683.
    Citations: 2     Fields:    Translation:Humans
  181. 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. PMID: 2757032; PMCID: PMC1683359.
    Citations: 11     Fields:    Translation:HumansAnimalsCells
  182. 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. PMID: 2568091; PMCID: PMC1683367.
    Citations: 3     Fields:    Translation:HumansCells
  183. 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. PMID: 2543673.
    Citations: 32     Fields:    Translation:HumansCells
  184. 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. PMID: 2502100.
    Citations:    Fields:    Translation:Humans
  185. Darras BT, Ampola MG, Dietz WH, Gilmore HE. Intermittent dystonia in Hartnup disease. Pediatr Neurol. 1989 Mar-Apr; 5(2):118-20. PMID: 2712944.
    Citations:    Fields:    Translation:Humans
  186. 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. PMID: 2789520.
    Citations: 11     Fields:    Translation:HumansAnimalsCells
  187. 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. PMID: 2903663; PMCID: PMC1715543.
    Citations: 52     Fields:    Translation:HumansCells
  188. 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. PMID: 2903662; PMCID: PMC1715524.
    Citations: 16     Fields:    Translation:HumansCells
  189. 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. PMID: 3144255.
    Citations:    Fields:    Translation:Humans
  190. 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. PMID: 2840818; PMCID: PMC1715358.
    Citations: 9     Fields:    Translation:HumansCells
  191. 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. PMID: 2973294.
    Citations: 1     Fields:    Translation:Humans
  192. 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. PMID: 3397062.
    Citations: 6     Fields:    Translation:HumansAnimalsCells
  193. 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. PMID: 2897793.
    Citations: 20     Fields:    Translation:HumansCells
  194. 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. PMID: 2889145.
    Citations: 45     Fields:    Translation:HumansCells
  195. 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. PMID: 3561454.
    Citations: 20     Fields:    Translation:HumansCells
  196. 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. PMID: 2883886; PMCID: PMC1684111.
    Citations: 25     Fields:    Translation:HumansC