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Scoliosis Surgery Significantly Impacts Motor Abilities in Higher-functioning Individuals with Spinal Muscular Atrophy1.

Young SD, Montes J, Salazar R, Glanzman AM, Pasternak A, Mirek E, Martens W, Finkel RS, Darras BT, De Vivo DC.

J Neuromuscul Dis. 2020 Feb 21. doi: 10.3233/JND-190462. [Epub ahead of print]


Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2.

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.

J Neuromuscul Dis. 2020 Jan 28. doi: 10.3233/JND-190468. [Epub ahead of print] No abstract available.


Response to "The Spectrum of Neuromuscular Disorders Admitted to a Pediatric Intensive Care Unit Is Broader Than Anticipated".

Harrar DB, Darras BT, Ghosh PS.

J Child Neurol. 2020 Mar;35(4):302-303. doi: 10.1177/0883073819894820. Epub 2020 Jan 3. No abstract available.


The Value of Imaging and Composition-Based Biomarkers in Duchenne Muscular Dystrophy Clinical Trials.

Chrzanowski SM, Darras BT, Rutkove SB.

Neurotherapeutics. 2020 Jan;17(1):142-152. doi: 10.1007/s13311-019-00825-1.


Electrical impedance myography for reducing sample size in Duchenne muscular dystrophy trials.

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.

Ann Clin Transl Neurol. 2020 Jan;7(1):4-14. doi: 10.1002/acn3.50958. Epub 2019 Dec 25.


A novel homozygous splice-site mutation in the SPTBN4 gene causes axonal neuropathy without intellectual disability.

Häusler MG, Begemann M, Lidov HG, Kurth I, Darras BT, Elbracht M.

Eur J Med Genet. 2019 Dec 16:103826. doi: 10.1016/j.ejmg.2019.103826. [Epub ahead of print]


Deflazacort vs prednisone treatment for Duchenne muscular dystrophy: A meta-analysis of disease progression rates in recent multicenter clinical trials.

McDonald CM, Sajeev G, Yao Z, McDonnell E, Elfring G, Souza M, Peltz SW, Darras BT, Shieh PB, Cox DA, Landry J, Signorovitch J; ACT DMD Study Group and the Tadalafil DMD Study Group.

Muscle Nerve. 2020 Jan;61(1):26-35. doi: 10.1002/mus.26736. Epub 2019 Nov 7.


Acute Neuromuscular Disorders in the Pediatric Intensive Care Unit.

Harrar DB, Darras BT, Ghosh PS.

J Child Neurol. 2020 Jan;35(1):17-24. doi: 10.1177/0883073819871437. Epub 2019 Sep 10.


An Integrated Safety Analysis of Infants and Children with Symptomatic Spinal Muscular Atrophy (SMA) Treated with Nusinersen in Seven Clinical Trials.

Darras BT, Farrar MA, Mercuri E, Finkel RS, Foster R, Hughes SG, Bhan I, Farwell W, Gheuens S.

CNS Drugs. 2019 Sep;33(9):919-932. doi: 10.1007/s40263-019-00656-w.


Nusinersen improves walking distance and reduces fatigue in later-onset spinal muscular atrophy.

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; CS2 and CS12 Study Groups.

Muscle Nerve. 2019 Oct;60(4):409-414. doi: 10.1002/mus.26633. Epub 2019 Jul 27.


Neurofilament as a potential biomarker for spinal muscular atrophy.

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.

Ann Clin Transl Neurol. 2019 Apr 17;6(5):932-944. doi: 10.1002/acn3.779. eCollection 2019 May.


Homozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposis.

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.

Neurol Genet. 2019 Mar 7;5(2):e312. doi: 10.1212/NXG.0000000000000312. eCollection 2019 Apr.


Nusinersen in later-onset spinal muscular atrophy: Long-term results from the phase 1/2 studies.

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; ISIS-396443-CS2/ISIS-396443-CS12 Study Groups.

Neurology. 2019 May 21;92(21):e2492-e2506. doi: 10.1212/WNL.0000000000007527. Epub 2019 Apr 24.


X-linked myotubular myopathy: A prospective international natural history study.

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.

Neurology. 2019 Apr 16;92(16):e1852-e1867. doi: 10.1212/WNL.0000000000007319. Epub 2019 Mar 22.


Systemic nature of spinal muscular atrophy revealed by studying insurance claims.

Lipnick SL, Agniel DM, Aggarwal R, Makhortova NR, Finlayson SG, Brocato A, Palmer N, Darras BT, Kohane I, Rubin LL.

PLoS One. 2019 Mar 14;14(3):e0213680. doi: 10.1371/journal.pone.0213680. eCollection 2019.


Exploring the relationship between electrical impedance myography and quantitative ultrasound parameters in Duchenne muscular dystrophy.

Roy B, Darras BT, Zaidman CM, Wu JS, Kapur K, Rutkove SB.

Clin Neurophysiol. 2019 Apr;130(4):515-520. doi: 10.1016/j.clinph.2019.01.018. Epub 2019 Feb 12.


Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites.

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.

Mol Genet Genomic Med. 2019 Mar;7(3):e552. doi: 10.1002/mgg3.552. Epub 2019 Jan 28.


Recruitment & retention program for the NeuroNEXT SMA Biomarker Study: Super Babies for SMA!

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; NeuroNEXT Clinical Trial Network and on behalf of the NN101 SMA Biomarker Investigators.

Contemp Clin Trials Commun. 2018 Jul 20;11:113-119. doi: 10.1016/j.conctc.2018.07.002. eCollection 2018 Sep.


Precious SMA natural history data: A benchmark to measure future treatment successes.

Darras BT, De Vivo DC.

Neurology. 2018 Aug 21;91(8):337-339. doi: 10.1212/WNL.0000000000006026. Epub 2018 Jul 25. No abstract available.


Deflazacort versus prednisone/prednisolone for maintaining motor function and delaying loss of ambulation: A post HOC analysis from the ACT DMD trial.

Shieh PB, Mcintosh J, Jin F, Souza M, Elfring G, Narayanan S, Trifillis P, Peltz SW, Mcdonald CM, Darras BT; THE ACT DMD STUDY GROUP.

Muscle Nerve. 2018 Nov;58(5):639-645. doi: 10.1002/mus.26191. Epub 2018 Sep 27.


Ambulatory function in spinal muscular atrophy: Age-related patterns of progression.

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.

PLoS One. 2018 Jun 26;13(6):e0199657. doi: 10.1371/journal.pone.0199657. eCollection 2018.


Quantitative Evaluation of Lower Extremity Joint Contractures in Spinal Muscular Atrophy: Implications for Motor Function.

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.

Pediatr Phys Ther. 2018 Jul;30(3):209-215. doi: 10.1097/PEP.0000000000000515.


Evaluator Training and Reliability for SMA Global Nusinersen Trials1.

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.

J Neuromuscul Dis. 2018;5(2):159-166. doi: 10.3233/JND-180301.


A checklist for clinical trials in rare disease: obstacles and anticipatory actions-lessons learned from the FOR-DMD trial.

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 Jr, Hughes I, Pegoraro E, Bryan Burnette W, Howard JF, Thangarajh M, Campbell C, Griggs RC, Bushby K, Guglieri M.

Trials. 2018 May 10;19(1):291. doi: 10.1186/s13063-018-2645-0. Review.


Comprehensive nutritional and metabolic assessment in patients with spinal muscular atrophy: Opportunity for an individualized approach.

Martinez EE, Quinn N, Arouchon K, Anzaldi R, Tarrant S, Ma NS, Griffin J, Darras BT, Graham RJ, Mehta NM.

Neuromuscul Disord. 2018 Jun;28(6):512-519. doi: 10.1016/j.nmd.2018.03.009. Epub 2018 Mar 19.



Darras BT, Urion DK, Ghosh PS.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
2000 Sep 5 [updated 2018 Apr 26].


Spectrum of Neuromuscular Disorders With HyperCKemia From a Tertiary Care Pediatric Neuromuscular Center.

Al-Ghamdi F, Darras BT, Ghosh PS.

J Child Neurol. 2018 May;33(6):389-396. doi: 10.1177/0883073818758455. Epub 2018 Mar 26.


Spinal muscular atrophy, pediatric virology and gene therapy: A challenge of modern weakness and hope.

Darras BT, Mammas IN, Spandidos DA.

Exp Ther Med. 2018 Apr;15(4):3671-3672. doi: 10.3892/etm.2018.5883. Epub 2018 Feb 22. No abstract available.


Electrophysiologic Features of Radial Neuropathy in Childhood and Adolescence.

Karakis I, Georghiou S, Jones HR, Darras BT, Kang PB.

Pediatr Neurol. 2018 Apr;81:14-18. doi: 10.1016/j.pediatrneurol.2018.01.003. Epub 2018 Jan 31.


Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy.

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; CHERISH Study Group.

N Engl J Med. 2018 Feb 15;378(7):625-635. doi: 10.1056/NEJMoa1710504.


Natural history of infantile-onset spinal muscular atrophy.

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; NeuroNEXT Clinical Trial Network on behalf of the NN101 SMA Biomarker Investigators.

Ann Neurol. 2017 Dec;82(6):883-891. doi: 10.1002/ana.25101. Epub 2017 Dec 8.


NeuroNEXT is at your service.

Rutkove SB, Darras BT.

Ann Neurol. 2017 Dec;82(6):857-858. doi: 10.1002/ana.25100. Epub 2017 Dec 4. No abstract available.


Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy.

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; ENDEAR Study Group.

N Engl J Med. 2017 Nov 2;377(18):1723-1732. doi: 10.1056/NEJMoa1702752.


X-linked myotubular myopathy: Living longer and awaiting treatment.

Finkel RS, Darras BT.

Neurology. 2017 Sep 26;89(13):1316-1317. doi: 10.1212/WNL.0000000000004428. Epub 2017 Aug 25. No abstract available.


Muscle compression improves reliability of ultrasound echo intensity.

Pigula-Tresansky AJ, Wu JS, Kapur K, Darras BT, Rutkove SB, Anthony BW.

Muscle Nerve. 2018 Mar;57(3):423-429. doi: 10.1002/mus.25779. Epub 2017 Sep 30.


Developing standardized corticosteroid treatment for Duchenne muscular dystrophy.

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.

Contemp Clin Trials. 2017 Jul;58:34-39. doi: 10.1016/j.cct.2017.04.008. Epub 2017 Apr 24.


Spectrum of Nondystrophic Skeletal Muscle Channelopathies in Children.

Al-Ghamdi F, Darras BT, Ghosh PS.

Pediatr Neurol. 2017 May;70:26-33. doi: 10.1016/j.pediatrneurol.2017.02.006. Epub 2017 Feb 16.


Electrophysiologic features of ulnar neuropathy in childhood and adolescence.

Karakis I, Liew W, Fournier HS, Jones HR Jr, Darras BT, Kang PB.

Clin Neurophysiol. 2017 May;128(5):751-755. doi: 10.1016/j.clinph.2017.01.024. Epub 2017 Feb 20.


Quantitative muscle ultrasound detects disease progression in Duchenne muscular dystrophy.

Zaidman CM, Wu JS, Kapur K, Pasternak A, Madabusi L, Yim S, Pacheck A, Szelag H, Harrington T, Darras BT, Rutkove SB.

Ann Neurol. 2017 May;81(5):633-640. doi: 10.1002/ana.24904. Epub 2017 May 4.


Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy.

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.

BMC Neurol. 2017 Feb 23;17(1):39. doi: 10.1186/s12883-017-0790-9.


Revised Hammersmith Scale for spinal muscular atrophy: A SMA specific clinical outcome assessment tool.

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.

PLoS One. 2017 Feb 21;12(2):e0172346. doi: 10.1371/journal.pone.0172346. eCollection 2017.


Electrical impedance myography for assessment of Duchenne muscular dystrophy.

Rutkove SB, Kapur K, Zaidman CM, Wu JS, Pasternak A, Madabusi L, Yim S, Pacheck A, Szelag H, Harrington T, Darras BT.

Ann Neurol. 2017 May;81(5):622-632. doi: 10.1002/ana.24874. Epub 2017 May 4.


Loss of electrical anisotropy is an unrecognized feature of dystrophic muscle that may serve as a convenient index of disease status.

Rutkove SB, Wu JS, Zaidman C, Kapur K, Yim S, Pasternak A, Madabusi L, Szelag H, Harrington T, Li J, Pacheck A, Darras BT.

Clin Neurophysiol. 2016 Dec;127(12):3546-3551. doi: 10.1016/j.clinph.2016.09.017. Epub 2016 Oct 13.


Developmental milestones in type I spinal muscular atrophy.

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.

Neuromuscul Disord. 2016 Nov;26(11):754-759. doi: 10.1016/j.nmd.2016.10.002. Epub 2016 Oct 5.


Longitudinal Patterns of Thalidomide Neuropathy in Children and Adolescents.

Liew WK, Pacak CA, Visyak N, Darras BT, Bousvaros A, Kang PB.

J Pediatr. 2016 Nov;178:227-232. doi: 10.1016/j.jpeds.2016.07.040. Epub 2016 Aug 24.


The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.

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.

J Hum Genet. 2017 Feb;62(2):243-252. doi: 10.1038/jhg.2016.116. Epub 2016 Oct 6.


Revised upper limb module for spinal muscular atrophy: Development of a new module.

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.

Muscle Nerve. 2017 Jun;55(6):869-874. doi: 10.1002/mus.25430. Epub 2017 Feb 6.


Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

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.

Muscle Nerve. 2017 May;55(5):761-765. doi: 10.1002/mus.25416. Epub 2017 Feb 3.


Electrophysiologic features of fibular neuropathy in childhood and adolescence.

Karakis I, Khoshnoodi M, Liew W, Nguyen ES, Jones HR, Darras BT, Kang PB.

Muscle Nerve. 2017 May;55(5):693-697. doi: 10.1002/mus.25403. Epub 2017 Jan 24.


Quantitative Ultrasound Assessment of Duchenne Muscular Dystrophy Using Edge Detection Analysis.

Koppaka S, Shklyar I, Rutkove SB, Darras BT, Anthony BW, Zaidman CM, Wu JS.

J Ultrasound Med. 2016 Sep;35(9):1889-97. doi: 10.7863/ultra.15.04065. Epub 2016 Jul 14.

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