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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
    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 NEXT: Children's Hospital Boston Clinical Research Site
    Role: Principal Investigator
  3. R01AR060850 (RUTKOVE, SEWARD B.) Sep 17, 2011 - Jul 31, 2016
    NIH
    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
    MOLECULAR STUDIES OF SODIUM CHANNELS IN SKELETAL MUSCLE
    Role: Principal Investigator
  5. M01RR002172 (MANDELL, JAMES WILLIAM) Jan 1, 1983 - Nov 30, 2003
    NIH
    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. Baranello G, Darras BT, Day JW, Deconinck N, Klein A, Masson R, Mercuri E, Rose K, El-Khairi M, Gerber M, Gorni K, Khwaja O, Kletzl H, Scalco RS, Seabrook T, Fontoura P, Servais L. Risdiplam in Type 1 Spinal Muscular Atrophy. N Engl J Med. 2021 03 11; 384(10):915-923. PMID: 33626251.
    Citations:    Fields:    
  2. Rudnicki SA, Andrews JA, Duong T, Cockroft BM, Malik FI, Meng L, Wei J, Wolff AA, Genge A, Johnson NE, Tesi-Rocha C, Connolly AM, Darras BT, Felice K, Shieh PB, Mah JK, Statland J, Campbell C, Habib AA, Kuntz NL, Oskoui M, Day JW. Reldesemtiv in Patients with Spinal Muscular Atrophy: a Phase 2 Hypothesis-Generating Study. Neurotherapeutics. 2021 Feb 23. PMID: 33624184.
    Citations:    Fields:    
  3. Yeo CJJ, Darras BT. Yeo and Darras: Extraneuronal Phenotypes of Spinal Muscular Atrophy. Ann Neurol. 2021 01; 89(1):24-26. PMID: 33051879.
    Citations:    Fields:    Translation:Humans
  4. Rivera SR, Jhamb SK, Abdel-Hamid HZ, Acsadi G, Brandsema J, Ciafaloni E, Darras BT, Iannaccone ST, Konersman CG, Kuntz NL, McDonald CM, Parsons JA, Tesi Rocha C, Zaidman CM, Butterfield RJ, Connolly AM, Mathews KD. Medical management of muscle weakness in Duchenne muscular dystrophy. PLoS One. 2020; 15(10):e0240687. PMID: 33075081.
    Citations:    Fields:    Translation:Humans
  5. Trucco F, Ridout D, Scoto M, Coratti G, Main ML, Muni Lofra R, Mayhew AG, Montes J, Pane M, Sansone V, Albamonte E, D'Amico A, Bertini E, Messina S, Bruno C, Parasuraman D, Childs AM, Gowda V, Willis T, Ong M, Marini-Bettolo C, De Vivo DC, Darras BT, Day J, Kichula EA, Mayer OH, Navas Nazario AA, Finkel RS, Mercuri E, Muntoni F. Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study. Neurology. 2021 01 26; 96(4):e587-e599. PMID: 33067401.
    Citations:    Fields:    Translation:Humans
  6. Coratti G, Messina S, Lucibello S, Pera MC, Montes J, Pasternak A, Bovis F, Exposito Escudero J, Mazzone ES, Mayhew A, Glanzman AM, Young SD, Salazar R, Duong T, Muni Lofra R, De Sanctis R, Carnicella S, Milev E, Civitello M, Pane M, Scoto M, Bettolo CM, Antonaci L, Frongia A, Sframeli M, Vita GL, D'Amico A, Van Den Hauwe M, Albamonte E, Goemans N, Darras BT, Bertini E, Sansone V, Day J, Nascimento Osorio A, Bruno C, Muntoni F, De Vivo DC, Finkel RS, Mercuri E. Clinical Variability in Spinal Muscular Atrophy Type III. Ann Neurol. 2020 12; 88(6):1109-1117. PMID: 32926458.
    Citations: 1     Fields:    Translation:Humans
  7. Ebrahimi-Fakhari D, Teinert J, Behne R, Wimmer M, D'Amore A, Eberhardt K, Brechmann B, Ziegler M, Jensen DM, Nagabhyrava P, Geisel G, Carmody E, Shamshad U, Dies KA, Yuskaitis CJ, Salussolia CL, Ebrahimi-Fakhari D, Pearson TS, Saffari A, Ziegler A, Kölker S, Volkmann J, Wiesener A, Bearden DR, Lakhani S, Segal D, Udwadia-Hegde A, Martinuzzi A, Hirst J, Perlman S, Takiyama Y, Xiromerisiou G, Vill K, Walker WO, Shukla A, Dubey Gupta R, Dahl N, Aksoy A, Verhelst H, Delgado MR, Kremlikova Pourova R, Sadek AA, Elkhateeb NM, Blumkin L, Brea-Fernández AJ, Dacruz-Álvarez D, Smol T, Ghoumid J, Miguel D, Heine C, Schlump JU, Langen H, Baets J, Bulk S, Darvish H, Bakhtiari S, Kruer MC, Lim-Melia E, Aydinli N, Alanay Y, El-Rashidy O, Nampoothiri S, Patel C, Beetz C, Bauer P, Yoon G, Guillot M, Miller SP, Bourinaris T, Houlden H, Robelin L, Anheim M, Alamri AS, Mahmoud AAH, Inaloo S, Habibzadeh P, Faghihi MA, Jansen AC, Brock S, Roubertie A, Darras BT, Agrawal PB, Santorelli FM, Gleeson J, Zaki MS, Sheikh SI, Bennett JT, Sahin M. Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia. Brain. 2020 10 01; 143(10):2929-2944. PMID: 32979048.
    Citations: 2     Fields:    Translation:Humans
  8. Campbell C, Barohn RJ, Bertini E, Chabrol B, Comi GP, Darras BT, Finkel RS, Flanigan KM, Goemans N, Iannaccone ST, Jones KJ, Kirschner J, Mah JK, Mathews KD, McDonald CM, Mercuri E, Nevo Y, Péréon Y, Renfroe JB, Ryan MM, Sampson JB, Schara U, Sejersen T, Selby K, Tulinius M, Vílchez JJ, Voit T, Wei LJ, Wong BL, Elfring G, Souza M, McIntosh J, Trifillis P, Peltz SW, Muntoni F. Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy. J Comp Eff Res. 2020 10; 9(14):973-984. PMID: 32851872.
    Citations: 2     Fields:    
  9. Coratti G, Lucibello S, Pera MC, Duong T, Muni Lofra R, Civitello M, D'Amico A, Goemans N, Darras BT, Bruno C, Sansone VA, Day J, Nascimento Osorio A, Muntoni F, Montes J, Sframeli M, Finkel R, Mercuri E. Gain and loss of abilities in type II SMA: A 12-month natural history study. Neuromuscul Disord. 2020 09; 30(9):765-771. PMID: 32893082.
    Citations:    Fields:    
  10. Cudkowicz M, Chase MK, Coffey CS, Ecklund DJ, Thornell BJ, Lungu C, Mahoney K, Gutmann L, Shefner JM, Staley KJ, Bosch M, Foster E, Long JD, Bayman EO, Torner J, Yankey J, Peters R, Huff T, Conwit RA, Shinnar S, Patch D, Darras BT, Ellis A, Packer RJ, Marder KS, Chiriboga CA, Henchcliffe C, Moran JA, Nikolov B, Factor SA, Seeley C, Greenberg SM, Amato AA, DeGregorio S, Simuni T, Ward T, Kissel JT, Kolb SJ, Bartlett A, Quinn JF, Keith K, Levine SR, Gilles N, Coyle PK, Lamb J, Wolfe GI, Crumlish A, Mejico L, Iqbal MM, Bowen JD, Tongco C, Nabors LB, Bashir K, Benge M, McDonald CM, Henricson EK, Oskarsson B, Dobkin BH, Canamar C, Glauser TA, Woo D, Molloy A, Clark P, Vollmer TL, Stein AJ, Barohn RJ, Dimachkie MM, Le Pichon JB, Benatar MG, Steele J, Wechsler L, Clemens PR, Amity C, Holloway RG, Annis C, Goldberg MP, Andersen M, Iannaccone ST, Smith AG, Singleton JR, Doudova M, Haley EC, Quigg MS, Lowenhaupt S, Malow BA, Adkins K, Clifford DB, Teshome MA, Connolly N. Seven-Year Experience From the National Institute of Neurological Disorders and Stroke-Supported Network for Excellence in Neuroscience Clinical Trials. JAMA Neurol. 2020 06 01; 77(6):755-763. PMID: 32202612.
    Citations: 1     Fields:    Translation:Humans
  11. Mercuri E, Lucibello S, Perulli M, Coratti G, de Sanctis R, Pera MC, Pane M, Montes J, de Vivo DC, Darras BT, Kolb SJ, Finkel RS. Longitudinal natural history of type I spinal muscular atrophy: a critical review. Orphanet J Rare Dis. 2020 04 05; 15(1):84. PMID: 32248834.
    Citations: 3     Fields:    
  12. Yeo CJJ, Darras BT. Overturning the Paradigm of Spinal Muscular Atrophy as Just a Motor Neuron Disease. Pediatr Neurol. 2020 08; 109:12-19. PMID: 32409122.
    Citations: 6     Fields:    
  13. Harrar DB, Darras BT, Ghosh PS. Response to "The Spectrum of Neuromuscular Disorders Admitted to a Pediatric Intensive Care Unit Is Broader Than Anticipated". J Child Neurol. 2020 03; 35(4):302-303. PMID: 31896288.
    Citations:    Fields:    
  14. Dunaway Young S, Montes J, Salazar R, Glanzman AM, Pasternak A, Mirek E, Martens W, Finkel RS, Darras BT, De Vivo DC. Scoliosis Surgery Significantly Impacts Motor Abilities in Higher-functioning Individuals with Spinal Muscular Atrophy1. J Neuromuscul Dis. 2020; 7(2):183-192. PMID: 32083590.
    Citations: 1     Fields:    Translation:Humans
  15. Glascock J, Sampson J, Connolly AM, Darras BT, Day JW, Finkel R, Howell RR, Klinger KW, Kuntz N, Prior T, Shieh PB, Crawford TO, Kerr D, Jarecki J. Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2. J Neuromuscul Dis. 2020; 7(2):97-100. PMID: 32007960.
    Citations: 8     Fields:    Translation:HumansPHPublic Health
  16. Chrzanowski SM, Darras BT, Rutkove SB. The Value of Imaging and Composition-Based Biomarkers in Duchenne Muscular Dystrophy Clinical Trials. Neurotherapeutics. 2020 01; 17(1):142-152. PMID: 31879850.
    Citations:    Fields:    Translation:Humans
  17. Leitner ML, Kapur K, Darras BT, Yang M, Wong B, Dalle Pazze L, Florence J, Buck M, Freedman L, Bohorquez J, Rutkove S, Zaidman C. Electrical impedance myography for reducing sample size in Duchenne muscular dystrophy trials. Ann Clin Transl Neurol. 2020 01; 7(1):4-14. PMID: 31876124.
    Citations:    Fields:    Translation:Humans
  18. Häusler MG, Begemann M, Lidov HG, Kurth I, Darras BT, Elbracht M. A novel homozygous splice-site mutation in the SPTBN4 gene causes axonal neuropathy without intellectual disability. Eur J Med Genet. 2020 Apr; 63(4):103826. PMID: 31857255.
    Citations:    Fields:    Translation:HumansCells
  19. McDonald CM, Sajeev G, Yao Z, McDonnell E, Elfring G, Souza M, Peltz SW, Darras BT, Shieh PB, Cox DA, Landry J, Signorovitch J. Deflazacort vs prednisone treatment for Duchenne muscular dystrophy: A meta-analysis of disease progression rates in recent multicenter clinical trials. Muscle Nerve. 2020 01; 61(1):26-35. PMID: 31599456.
    Citations: 3     Fields:    Translation:Humans
  20. Harrar DB, Darras BT, Ghosh PS. Acute Neuromuscular Disorders in the Pediatric Intensive Care Unit. J Child Neurol. 2020 01; 35(1):17-24. PMID: 31502491.
    Citations: 1     Fields:    
  21. Darras BT, Farrar MA, Mercuri E, Finkel RS, Foster R, Hughes SG, Bhan I, Farwell W, Gheuens S. An Integrated Safety Analysis of Infants and Children with Symptomatic Spinal Muscular Atrophy (SMA) Treated with Nusinersen in Seven Clinical Trials. CNS Drugs. 2019 09; 33(9):919-932. PMID: 31420846.
    Citations: 6     Fields:    Translation:Humans
  22. Montes J, Dunaway Young S, Mazzone ES, Pasternak A, Glanzman AM, Finkel RS, Darras BT, Muntoni F, Mercuri E, De Vivo DC, Bishop KM, Schneider E, Bennett CF, Foster R, Farwell W. Nusinersen improves walking distance and reduces fatigue in later-onset spinal muscular atrophy. Muscle Nerve. 2019 10; 60(4):409-414. PMID: 31298747.
    Citations: 7     Fields:    Translation:HumansCTClinical Trials
  23. Antoury L, Hu N, Darras B, Wheeler TM. Urine mRNA to identify a novel pseudoexon causing dystrophinopathy. Ann Clin Transl Neurol. 2019 Jun; 6(6):1106-1112. PMID: 31211175.
    Citations:    Fields:    Translation:HumansCells
  24. Darras BT, Chiriboga CA, Iannaccone ST, Swoboda KJ, Montes J, Mignon L, Xia S, Bennett CF, Bishop KM, Shefner JM, Green AM, Sun P, Bhan I, Gheuens S, Schneider E, Farwell W, De Vivo DC. Nusinersen in later-onset spinal muscular atrophy: Long-term results from the phase 1/2 studies. Neurology. 2019 05 21; 92(21):e2492-e2506. PMID: 31019106.
    Citations: 21     Fields:    Translation:HumansCTClinical Trials
  25. Darras BT, Crawford TO, Finkel RS, Mercuri E, De Vivo DC, Oskoui M, Tizzano EF, Ryan MM, Muntoni F, Zhao G, Staropoli J, McCampbell A, Petrillo M, Stebbins C, Fradette S, Farwell W, Sumner CJ. Neurofilament as a potential biomarker for spinal muscular atrophy. Ann Clin Transl Neurol. 2019 May; 6(5):932-944. PMID: 31139691.
    Citations: 18     Fields:    Translation:HumansCellsCTClinical Trials
  26. Annoussamy M, Lilien C, Gidaro T, Gargaun E, Chê V, Schara U, Gangfuß A, D'Amico A, Dowling JJ, Darras BT, Daron A, Hernandez A, de Lattre C, Arnal JM, Mayer M, Cuisset JM, Vuillerot C, Fontaine S, Bellance R, Biancalana V, Buj-Bello A, Hogrel JY, Landy H, Servais L. X-linked myotubular myopathy: A prospective international natural history study. Neurology. 2019 04 16; 92(16):e1852-e1867. PMID: 30902907.
    Citations: 11     Fields:    Translation:HumansCTClinical Trials
  27. Lipnick SL, Agniel DM, Aggarwal R, Makhortova NR, Finlayson SG, Brocato A, Palmer N, Darras BT, Kohane I, Rubin LL. Systemic nature of spinal muscular atrophy revealed by studying insurance claims. PLoS One. 2019; 14(3):e0213680. PMID: 30870495.
    Citations: 13     Fields:    Translation:Humans
  28. Velilla J, Marchetti MM, Toth-Petroczy A, Grosgogeat C, Bennett AH, Carmichael N, Estrella E, Darras BT, Frank NY, Krier J, Gaudet R, Gupta VA. Homozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposis. Neurol Genet. 2019 Apr; 5(2):e312. PMID: 31041394.
    Citations: 4     
  29. Roy B, Darras BT, Zaidman CM, Wu JS, Kapur K, Rutkove SB. Exploring the relationship between electrical impedance myography and quantitative ultrasound parameters in Duchenne muscular dystrophy. Clin Neurophysiol. 2019 04; 130(4):515-520. PMID: 30772764.
    Citations: 2     Fields:    Translation:Humans
  30. Pera MC, Coratti G, Mazzone ES, Montes J, Scoto M, De Sanctis R, Main M, Mayhew A, Muni Lofra R, Dunaway Young S, Glanzman AM, Duong T, Pasternak A, Ramsey D, Darras B, Day JW, Finkel RS, De Vivo DC, Sormani MP, Bovis F, Straub V, Muntoni F, Pane M, Mercuri E. Revised upper limb module for spinal muscular atrophy: 12?month changes. Muscle Nerve. 2019 04; 59(4):426-430. PMID: 30677148.
    Citations: 6     Fields:    Translation:Humans
  31. Bruels CC, Li C, Mendoza T, Khan J, Reddy HM, Estrella EA, Ghosh PS, Darras BT, Lidov HGW, Pacak CA, Kunkel LM, Modave F, Draper I, Kang PB. Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites. Mol Genet Genomic Med. 2019 03; 7(3):e552. PMID: 30688039.
    Citations: 2     Fields:    Translation:HumansAnimalsCells
  32. Kapur K, Sanchez B, Pacheck A, Darras B, Rutkove SB, Selukar R. Functional Mixed-Effects Modeling of Longitudinal Duchenne Muscular Dystrophy Electrical Impedance Myography Data Using State-Space Approach. IEEE Trans Biomed Eng. 2019 06; 66(6):1761-1768. PMID: 30387720.
    Citations: 1     Fields:    Translation:Humans
  33. Shieh PB, Mcintosh J, Jin F, Souza M, Elfring G, Narayanan S, Trifillis P, Peltz SW, Mcdonald CM, Darras BT. Deflazacort versus prednisone/prednisolone for maintaining motor function and delaying loss of ambulation: A post HOC analysis from the ACT DMD trial. Muscle Nerve. 2018 11; 58(5):639-645. PMID: 30028519.
    Citations: 9     Fields:    Translation:Humans
  34. 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: 12     Fields:    Translation:HumansAnimalsCells
  35. Darras BT, De Vivo DC. Precious SMA natural history data: A benchmark to measure future treatment successes. Neurology. 2018 08 21; 91(8):337-339. PMID: 30045956.
    Citations: 6     Fields:    Translation:Humans
  36. 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: 2     
  37. 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: 3     Fields:    Translation:Humans
  38. 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: 11     Fields:    Translation:Humans
  39. 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: 3     Fields:    Translation:Humans
  40. 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:    Translation:Humans
  41. Martinez EE, Quinn N, Arouchon K, Anzaldi R, Tarrant S, Ma NS, Griffin J, Darras BT, Graham RJ, Mehta NM. Comprehensive nutritional and metabolic assessment in patients with spinal muscular atrophy: Opportunity for an individualized approach. Neuromuscul Disord. 2018 06; 28(6):512-519. PMID: 29699728.
    Citations: 2     Fields:    Translation:Humans
  42. 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:    
  43. 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: 159     Fields:    Translation:HumansCTClinical Trials
  44. Karakis I, Georghiou S, Jones HR, Darras BT, Kang PB. Electrophysiologic Features of Radial Neuropathy in Childhood and Adolescence. Pediatr Neurol. 2018 04; 81:14-18. PMID: 29506771.
    Citations: 2     Fields:    Translation:Humans
  45. 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: 26     Fields:    Translation:HumansPHPublic Health
  46. 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: 2     Fields:    Translation:Humans
  47. 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: 45     Fields:    Translation:Humans
  48. Rutkove SB, Darras BT. NeuroNEXT is at your service. Ann Neurol. 2017 12; 82(6):857-858. PMID: 29149769.
    Citations: 2     Fields:    Translation:Humans
  49. Ebrahimi-Fakhari D, Cheng C, Dies K, Diplock A, Pier DB, Ryan CS, Lanpher BC, Hirst J, Chung WK, Sahin M, Rosser E, Darras B, Bennett JT. Clinical and genetic characterization of AP4B1-associated SPG47. . 2018 02; 176(2):311-318. PMID: 29193663.
    Citations: 11     Translation:Humans
  50. 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: 267     Fields:    Translation:HumansCTClinical Trials
  51. 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: 2     Fields:    Translation:Humans
  52. Finkel RS, Darras BT. X-linked myotubular myopathy: Living longer and awaiting treatment. Neurology. 2017 09 26; 89(13):1316-1317. PMID: 28842443.
    Citations:    Fields:    Translation:Humans
  53. 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: 14     Fields:    Translation:Humans
  54. 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: 14     Fields:    Translation:Humans
  55. 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: 12     Fields:    Translation:Humans
  56. 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: 10     Fields:    Translation:Humans
  57. 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: 12     Fields:    Translation:Humans
  58. 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: 1     Fields:    Translation:HumansCells
  59. 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
  60. 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: 12     Fields:    Translation:Humans
  61. 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: 5     Fields:    Translation:HumansCells
  62. 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
  63. 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: 3     Fields:    Translation:HumansAnimals
  64. 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: 17     Fields:    Translation:HumansCells
  65. 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: 3     Fields:    Translation:Humans
  66. 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: 19     Fields:    Translation:Humans
  67. 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: 2     Fields:    Translation:Humans
  68. 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: 2     Fields:    Translation:Humans
  69. Pigula AJ, Wu JS, Gilbertson MW, Darras BT, Rutkove SB, Anthony BW. Force-controlled ultrasound to measure passive mechanical properties of muscle in Duchenne muscular dystrophy. Annu Int Conf IEEE Eng Med Biol Soc. 2016 Aug; 2016:2865-2868. PMID: 28324973.
    Citations:    Translation:Humans
  70. 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: 5     Fields:    Translation:Humans
  71. 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
  72. 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: 153     Fields:    Translation:HumansCTClinical Trials
  73. 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: 29     Fields:    
  74. 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: 3     Fields:    Translation:Humans
  75. 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.
    Citations: 26     Fields:    Translation:Humans
  76. 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: 8     Fields:    Translation:Humans
  77. Brandsema JF, Darras BT. Dystrophinopathies. Semin Neurol. 2015 Aug; 35(4):369-84. PMID: 26502761.
    Citations: 5     Fields:    Translation:Humans
  78. 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
  79. Darras BT. Spinal muscular atrophies. Pediatr Clin North Am. 2015 Jun; 62(3):743-66. PMID: 26022173.
    Citations: 24     Fields:    Translation:Humans
  80. 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.
    Citations: 13     Fields:    Translation:Humans
  81. 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.
    Citations: 2     Fields:    
  82. 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.
    Citations: 13     Fields:    Translation:Humans
  83. 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.
    Citations: 2     Fields:    Translation:HumansCTClinical Trials
  84. 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
  85. 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.
    Citations: 7     Fields:    Translation:Humans
  86. 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
  87. 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.
    Citations: 65     Fields:    Translation:Humans
  88. 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.
    Citations: 9     Fields:    Translation:HumansAnimals
  89. 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.
    Citations: 20     Fields:    Translation:Humans
  90. 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
  91. 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: 6     Fields:    Translation:Humans
  92. 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.
    Citations: 8     Fields:    Translation:HumansCells
  93. 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.
    Citations: 20     Fields:    Translation:Humans
  94. 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.
    Citations: 4     Fields:    Translation:Humans
  95. 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: 11     Fields:    Translation:Humans
  96. 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.
    Citations: 18     
  97. 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.
    Citations:    Fields:    Translation:Humans
  98. 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
  99. 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.
    Citations: 54     Fields:    Translation:HumansAnimalsCells
  100. 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: 2     Fields:    Translation:Humans
  101. Darras BT, Tawil R. Predicting hearing loss in facioscapulohumeral muscular dystrophy. Neurology. 2013 Oct 15; 81(16):1370-1. PMID: 24042094.
    Citations: 1     Fields:    Translation:Humans
  102. 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.
    Citations: 13     Fields:    Translation:Humans
  103. Liew WK, Darras BT. Teaching NeuroImages: characteristic phenotype of Ullrich congenital muscular dystrophy. Neurology. 2013 Aug 13; 81(7):e44-5. PMID: 23940025.
    Citations:    Fields:    Translation:Humans
  104. 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.
    Citations: 6     Fields:    Translation:HumansCells
  105. 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: 7     Fields:    Translation:Humans
  106. 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.
    Citations: 14     Fields:    Translation:Humans
  107. 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: 10     Fields:    Translation:Humans
  108. 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: 5     Fields:    Translation:Humans
  109. 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: 3     Fields:    Translation:Humans
  110. 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     
  111. 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: 7     Fields:    Translation:Humans
  112. 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.
    Citations: 53     Fields:    Translation:Humans
  113. 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: 13     Fields:    Translation:Humans
  114. 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: 2     Fields:    Translation:Humans
  115. 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.
    Citations: 8     Fields:    Translation:Humans
  116. 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: 23     Fields:    Translation:Humans
  117. 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.
    Citations: 44     Fields:    Translation:HumansCells
  118. 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.
    Citations: 22     Fields:    Translation:HumansAnimalsCells
  119. 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
  120. 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: 37     Fields:    Translation:Humans
  121. McMillan HJ, Darras BT, Kang PB. Autoimmune neuromuscular disorders in childhood. Curr Treat Options Neurol. 2011 Dec; 13(6):590-607. PMID: 21912840.
    Citations:    
  122. 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: 29     Fields:    Translation:Humans
  123. Darras BT. Non-5q spinal muscular atrophies: the alphanumeric soup thickens. Neurology. 2011 Jul 26; 77(4):312-4. PMID: 21715708.
    Citations: 6     Fields:    Translation:HumansCells
  124. Darras BT. Child neurology residency training in neuromuscular disorders. Semin Pediatr Neurol. 2011 Jun; 18(2):116-9. PMID: 22036495.
    Citations:    Fields:    Translation:Humans
  125. 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: 9     Fields:    Translation:Humans
  126. 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.
    Citations: 3     Fields:    Translation:Humans
  127. 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: 3     Fields:    Translation:Humans
  128. 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.
    Citations: 40     Fields:    Translation:Humans
  129. 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
  130. 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: 16     Fields:    Translation:Humans
  131. Jafarpoor M, Spieker AJ, Li J, Sung M, Darras BT, Rutkove SB. Assessing electrical impedance alterations in spinal muscular atrophy via the finite element method. Annu Int Conf IEEE Eng Med Biol Soc. 2011; 2011:1871-4. PMID: 22254695.
    Citations:    Translation:HumansAnimals
  132. 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: 18     Fields:    Translation:Humans
  133. 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: 33     Fields:    Translation:Humans
  134. 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: 10     Fields:    Translation:Humans
  135. 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: 21     Fields:    Translation:Humans
  136. Wu JS, Darras BT, Rutkove SB. Assessing spinal muscular atrophy with quantitative ultrasound. Neurology. 2010 Aug 10; 75(6):526-31. PMID: 20697104.
    Citations: 17     Fields:    Translation:Humans
  137. 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
  138. 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.
    Citations: 9     Fields:    Translation:Humans
  139. 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.
    Citations: 6