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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 - Mar 31, 2009
    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. Cances C, Vlodavets D, Comi GP, Masson R, Mazurkiewicz-Beldzinska M, Saito K, Zanoteli E, Dodman A, El-Khairi M, Gorni K, Gravestock I, Hoffart J, Scalco RS, Darras BT. Natural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter study. Orphanet J Rare Dis. 2022 07 29; 17(1):300. PMID: 35906608; PMCID: PMC9336055.
    Citations:    Fields:    
  2. Bruels CC, Littel HR, Daugherty AL, Stafki S, Estrella EA, McGaughy ES, Truong D, Badalamenti JP, Pais L, Ganesh VS, O'Donnell-Luria A, Stalker HJ, Wang Y, Collins C, Behlmann A, Lemmers RJLF, van der Maarel SM, Laine R, Ghosh PS, Darras BT, Zingariello CD, Pacak CA, Kunkel LM, Kang PB. Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy. Ann Clin Transl Neurol. 2022 08; 9(8):1302-1309. PMID: 35734998; PMCID: PMC9380148.
    Citations:    Fields:    
  3. Darras BT, Guye S, Hoffart J, Schneider S, Gravestock I, Gorni K, Fuerst-Recktenwald S, Scalco RS, Finkel RS, De Vivo DC. Distribution of weight, stature, and growth status in children and adolescents with spinal muscular atrophy: An observational retrospective study in the United States. Muscle Nerve. 2022 07; 66(1):84-90. PMID: 35385150; PMCID: PMC9325433.
    Citations:    Fields:    Translation:Humans
  4. Madan E, Carrié S, Donado C, Lobo K, Souris M, Laine R, Beers E, Cornelissen L, Darras BT, Koka A, Riley B, Dinakar P, Stone S, Snyder B, Graham RJ, Padua H, Sethna N, Berde C. Nusinersen for Patients With Spinal Muscular Atrophy: 1415 Doses via an Interdisciplinary Institutional Approach. Pediatr Neurol. 2022 07; 132:33-40. PMID: 35636280.
    Citations:    Fields:    Translation:Humans
  5. Guglieri M, Bushby K, McDermott MP, Hart KA, Tawil R, Martens WB, Herr BE, McColl E, Speed C, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Willis T, Griggs RC, Straub V, van Ruiten H, Childs AM, Ciafaloni E, Shieh PB, Spinty S, Maggi L, Baranello G, Butterfield RJ, Horrocks IA, Roper H, Alhaswani Z, Flanigan KM, Kuntz NL, Manzur A, Darras BT, Kang PB, Morrison L, Krzesniak-Swinarska M, Mah JK, Mongini TE, Ricci F, von der Hagen M, Finkel RS, O'Reardon K, Wicklund M, Kumar A, McDonald CM, Han JJ, Joyce N, Henricson EK, Schara-Schmidt U, Gangfuss A, Wilichowski E, Barohn RJ, Statland JM, Campbell C, Vita G, Vita GL, Howard JF, Hughes I, McMillan HJ, Pegoraro E, Bello L, Burnette WB, Thangarajh M, Chang T. Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial. JAMA. 2022 04 19; 327(15):1456-1468. PMID: 35381069; PMCID: PMC8984930.
    Citations:    Fields:    Translation:Humans
  6. Yeo CJJ, Simmons Z, De Vivo DC, Darras BT. Reply to: The 4-Copy Conundrum in the Treatment of Infants with Spinal Muscular Atrophy. Ann Neurol. 2022 06; 91(6):892. PMID: 35332578.
    Citations:    Fields:    Translation:Humans
  7. Morton SU, Christodoulou J, Costain G, Muntoni F, Wakeling E, Wojcik MH, French CE, Szuto A, Dowling JJ, Cohn RD, Raymond FL, Darras BT, Williams DA, Lunke S, Stark Z, Rowitch DH, Agrawal PB. Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review. JAMA Neurol. 2022 04 01; 79(4):405-413. PMID: 35254387.
    Citations:    Fields:    Translation:Humans
  8. Yeo CJJ, Simmons Z, De Vivo DC, Darras BT. Ethical Perspectives on Treatment Options with Spinal Muscular Atrophy Patients. Ann Neurol. 2022 03; 91(3):305-316. PMID: 34981567; PMCID: PMC9305104.
    Citations:    Fields:    Translation:Humans
  9. Yeo CJJ, Darras BT. A tale of two diseases: spinal muscular atrophy and Pompe disease. Lancet Child Adolesc Health. 2022 01; 6(1):2-3. PMID: 34822770.
    Citations:    Fields:    Translation:Humans
  10. Coratti G, Carmela Pera M, Montes J, Scoto M, Pasternak A, Bovis F, Sframeli M, D'Amico A, Pane M, Albamonte E, Antonaci L, Lia Frongia A, Mizzoni I, Sansone VA, Russo M, Bruno C, Baranello G, Messina S, Dunaway Young S, Glanzman AM, Duong T, de Sanctis R, Stacy Mazzone E, Milev E, Rohwer A, Civitello M, Darras BT, Bertini E, Day J, Muntoni F, De Vivo DC, Finkel RS, Mercuri E. Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes. Neuromuscul Disord. 2022 01; 32(1):36-42. PMID: 34980538.
    Citations:    Fields:    Translation:Humans
  11. Shieh PB, Elfring G, Trifillis P, Santos C, Peltz SW, Parsons JA, Apkon S, Darras BT, Campbell C, McDonald CM. Meta-analyses of deflazacort versus prednisone/prednisolone in patients with nonsense mutation Duchenne muscular dystrophy. J Comp Eff Res. 2021 12; 10(18):1337-1347. PMID: 34693725.
    Citations: 1     Fields:    Translation:Humans
  12. Coratti G, Pera MC, Montes J, Pasternak A, Scoto M, Baranello G, Messina S, Dunaway Young S, Glanzman AM, Duong T, De Sanctis R, Mazzone ES, Milev E, Rohwer A, Civitello M, Pane M, Antonaci L, Frongia AL, Sframeli M, Vita GL, D'Amico A, Mizzoni I, Albamonte E, Darras BT, Bertini E, Sansone VA, Bovis F, Day J, Bruno C, Muntoni F, De Vivo DC, Finkel R, Mercuri E. Different trajectories in upper limb and gross motor function in spinal muscular atrophy. Muscle Nerve. 2021 11; 64(5):552-559. PMID: 34327716; PMCID: PMC9291175.
    Citations: 3     Fields:    Translation:Humans
  13. Darras BT, Masson R, Mazurkiewicz-Beldzinska M, Rose K, Xiong H, Zanoteli E, Baranello G, Bruno C, Vlodavets D, Wang Y, El-Khairi M, Gerber M, Gorni K, Khwaja O, Kletzl H, Scalco RS, Fontoura P, Servais L. Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls. N Engl J Med. 2021 07 29; 385(5):427-435. PMID: 34320287.
    Citations: 11     Fields:    Translation:Humans
  14. 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, Finkel RS, Shieh PB, Mah JK, Statland J, Campbell C, Habib AA, Kuntz NL, Oskoui M, Day JW. Correction to: Reldesemtiv in Patients with Spinal Muscular Atrophy: a Phase 2 Hypothesis-Generating Study. Neurotherapeutics. 2021 Jul; 18(3):2130. PMID: 34731415.
    Citations:    Fields:    
  15. Pera MC, Coratti G, Bovis F, Pane M, Pasternak A, Montes J, Sansone VA, Dunaway Young S, Duong T, Messina S, Mizzoni I, D'Amico A, Civitello M, Glanzman AM, Bruno C, Salmin F, Morando S, De Sanctis R, Sframeli M, Antonaci L, Frongia AL, Rohwer A, Scoto M, De Vivo DC, Darras BT, Day J, Martens W, Patanella KA, Bertini E, Muntoni F, Finkel R, Mercuri E. Nusinersen in pediatric and adult patients with type III spinal muscular atrophy. Ann Clin Transl Neurol. 2021 08; 8(8):1622-1634. PMID: 34165911; PMCID: PMC8351459.
    Citations: 4     Fields:    Translation:Humans
  16. Duong T, Wolford C, McDermott MP, Macpherson CE, Pasternak A, Glanzman AM, Martens WB, Kichula E, Darras BT, De Vivo DC, Zolkipli-Cunningham Z, Finkel RS, Zeineh M, Wintermark M, Sampson J, Hagerman KA, Young SD, Day JW. Nusinersen Treatment in Adults With Spinal Muscular Atrophy. Neurol Clin Pract. 2021 Jun; 11(3):e317-e327. PMID: 34476123; PMCID: PMC8382360.
    Citations: 5     
  17. Hale JE, Darras BT, Swoboda KJ, Estrella E, Chen JYH, Abbott MA, Hay BN, Kumar B, Counihan AM, Gerstel-Thompson J, Sahai I, Eaton RB, Comeau AM. Massachusetts' Findings from Statewide Newborn Screening for Spinal Muscular Atrophy. Int J Neonatal Screen. 2021 May 23; 7(2). PMID: 34071063.
    Citations: 3     
  18. Neuser S, Brechmann B, Heimer G, Brösse I, Schubert S, O'Grady L, Zech M, Srivastava S, Sweetser DA, Dincer Y, Mall V, Winkelmann J, Behrends C, Darras BT, Graham RJ, Jayakar P, Byrne B, Bar-Aluma BE, Haberman Y, Szeinberg A, Aldhalaan HM, Hashem M, Al Tenaiji A, Ismayl O, Al Nuaimi AE, Maher K, Ibrahim S, Khan F, Houlden H, Ramakumaran VS, Pagnamenta AT, Posey JE, Lupski JR, Tan WH, ElGhazali G, Herman I, Muñoz T, Repetto GM, Seitz A, Krumbiegel M, Poli MC, Kini U, Efthymiou S, Meiler J, Maroofian R, Alkuraya FS, Abou Jamra R, Popp B, Ben-Zeev B, Ebrahimi-Fakhari D. Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability. Hum Mutat. 2021 06; 42(6):762-776. PMID: 33847017.
    Citations: 6     Fields:    Translation:HumansCells
  19. Rutkove SB, Narayanaswami P, David Arnold W, Kolb SJ, Clark BC, Darras BT, Halter RJ, Shefner JM. Putting the patient first: The validity and value of surface-based electrical impedance myography techniques. Clin Neurophysiol. 2021 07; 132(7):1752-1753. PMID: 33896693.
    Citations: 1     Fields:    Translation:Humans
  20. McGrattan KE, Graham RJ, DiDonato CJ, Darras BT. Dysphagia Phenotypes in Spinal Muscular Atrophy: The Past, Present, and Promise for the Future. Am J Speech Lang Pathol. 2021 05 18; 30(3):1008-1022. PMID: 33822657.
    Citations: 2     Fields:    Translation:Humans
  21. Coratti G, Pane M, Lucibello S, Pera MC, Pasternak A, Montes J, Sansone VA, Duong T, Dunaway Young S, Messina S, D'Amico A, Civitello M, Glanzman AM, Bruno C, Salmin F, Tacchetti P, Carnicella S, Sframeli M, Antonaci L, Frongia AL, De Vivo DC, Darras BT, Day J, Bertini E, Muntoni F, Finkel R, Mercuri E. Age related treatment effect in type II Spinal Muscular Atrophy pediatric patients treated with nusinersen. Neuromuscul Disord. 2021 07; 31(7):596-602. PMID: 34099377.
    Citations: 6     Fields:    Translation:Humans
  22. Day JW, Finkel RS, Chiriboga CA, Connolly AM, Crawford TO, Darras BT, Iannaccone ST, Kuntz NL, Peña LDM, Shieh PB, Smith EC, Kwon JM, Zaidman CM, Schultz M, Feltner DE, Tauscher-Wisniewski S, Ouyang H, Chand DH, Sproule DM, Macek TA, Mendell JR. Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial. Lancet Neurol. 2021 04; 20(4):284-293. PMID: 33743238.
    Citations: 41     Fields:    Translation:HumansCTClinical Trials
  23. 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: 43     Fields:    Translation:HumansCellsCTClinical Trials
  24. 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, Finkel RS, 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 04; 18(2):1127-1136. PMID: 33624184; PMCID: PMC8423982.
    Citations: 6     Fields:    Translation:HumansCTClinical Trials
  25. Fragala-Pinkham M, Pasternak A, McDermott MP, Mirek E, Glanzman AM, Montes J, Dunaway Young S, Salazar R, Quigley J, Riley SO, Chiriboga CA, Finkel RS, Tennekoon G, Martens WB, De Vivo DC, Darras BT. Psychometric properties of the PEDI-CAT for children and youth with spinal muscular atrophy. J Pediatr Rehabil Med. 2021; 14(3):451-461. PMID: 34275913.
    Citations: 1     Fields:    Translation:Humans
  26. Yeo CJJ, Darras BT. Yeo and Darras: Extraneuronal Phenotypes of Spinal Muscular Atrophy. Ann Neurol. 2021 01; 89(1):24-26. PMID: 33051879.
    Citations: 5     Fields:    Translation:Humans
  27. 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: 3     Fields:    Translation:Humans
  28. 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: 3     Fields:    Translation:Humans
  29. 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: 12     Fields:    Translation:Humans
  30. 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; PMCID: PMC7780481.
    Citations: 12     Fields:    Translation:Humans
  31. 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: 10     Fields:    Translation:Humans
  32. 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: 5     Fields:    Translation:Humans
  33. 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; PMCID: PMC7483960.
    Citations: 2     Fields:    Translation:Humans
  34. 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; PMCID: PMC7132885.
    Citations: 8     Fields:    Translation:Humans
  35. 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: 22     Fields:    Translation:HumansAnimals
  36. 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:    Translation:Humans
  37. 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: 24     Fields:    Translation:HumansPHPublic Health
  38. 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: 2     Fields:    Translation:Humans
  39. 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; PMCID: PMC7007477.
    Citations: 2     Fields:    Translation:Humans
  40. 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: 5     Fields:    Translation:Humans
  41. 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: 5     Fields:    Translation:HumansCells
  42. 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: 9     Fields:    Translation:Humans
  43. 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: 2     Fields:    Translation:Humans
  44. 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: 19     Fields:    Translation:Humans
  45. 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; PMCID: PMC6771553.
    Citations: 22     Fields:    Translation:HumansCTClinical Trials
  46. 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
  47. 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; PMCID: PMC6541434.
    Citations: 62     Fields:    Translation:HumansCTClinical Trials
  48. 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; PMCID: PMC6530526.
    Citations: 54     Fields:    Translation:HumansCellsCTClinical Trials
  49. 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; PMCID: PMC6550499.
    Citations: 21     Fields:    Translation:HumansCTClinical Trials
  50. 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: 19     Fields:    Translation:Humans
  51. 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; PMCID: PMC6454305.
    Citations: 5     
  52. 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; PMCID: PMC6411427.
    Citations: 2     Fields:    Translation:Humans
  53. 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: 20     Fields:    Translation:Humans
  54. 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: 3     Fields:    Translation:HumansAnimalsCells
  55. 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: 5     Fields:    Translation:Humans
  56. 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: 17     Fields:    Translation:Humans
  57. 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: 19     Fields:    Translation:HumansAnimalsCells
  58. 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: 9     Fields:    Translation:Humans
  59. 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; PMCID: PMC6072892.
    Citations: 3     
  60. 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: 7     Fields:    Translation:Humans
  61. 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: 27     Fields:    Translation:Humans
  62. 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: 10     Fields:    Translation:Humans
  63. 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
  64. 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: 3     Fields:    Translation:Humans
  65. 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; PMCID: PMC5844006.
    Citations:    
  66. 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: 336     Fields:    Translation:HumansCTClinical Trials
  67. 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: 4     Fields:    Translation:Humans
  68. 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: 9     Fields:    Translation:Humans
  69. 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: 51     Fields:    Translation:HumansPHPublic Health
  70. 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; PMCID: PMC5776712.
    Citations: 84     Fields:    Translation:Humans
  71. Rutkove SB, Darras BT. NeuroNEXT is at your service. Ann Neurol. 2017 12; 82(6):857-858. PMID: 29149769.
    Citations: 2     Fields:    Translation:Humans
  72. 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: 20     Fields:    Translation:Humans
  73. 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: 498     Fields:    Translation:HumansCTClinical Trials
  74. 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: 6     Fields:    Translation:Humans
  75. 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
  76. 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; PMCID: PMC5444989.
    Citations: 22     Fields:    Translation:Humans
  77. 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; PMCID: PMC5444980.
    Citations: 23     Fields:    Translation:Humans
  78. 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: 29     Fields:    Translation:Humans
  79. 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: 29     Fields:    Translation:Humans
  80. 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: 18     Fields:    Translation:Humans
  81. 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: 2     Fields:    Translation:HumansCells
  82. 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: 2     Fields:    Translation:Humans
  83. 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: 41     Fields:    Translation:Humans
  84. 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; PMCID: PMC5366284.
    Citations: 8     Fields:    Translation:HumansCells
  85. 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: 2     Fields:    Translation:HumansCells
  86. 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: 4     Fields:    Translation:HumansAnimals
  87. 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; PMCID: PMC5266644.
    Citations: 28     Fields:    Translation:HumansCells
  88. 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: 4     Fields:    Translation:Humans
  89. 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; PMCID: PMC5091285.
    Citations: 30     Fields:    Translation:Humans
  90. 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: 3     Fields:    Translation:Humans
  91. 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: 4     Fields:    Translation:Humans
  92. 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:    Fields:    Translation:Humans
  93. 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
  94. 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: 8     Fields:    Translation:Humans
  95. 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; PMCID: PMC4782111.
    Citations: 206     Fields:    Translation:HumansCTClinical Trials
  96. 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: 45     Fields:    
  97. 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: 5     Fields:    Translation:Humans
  98. 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: 47     Fields: