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Results: 1 to 20 of 140

1.

Old measures and new scores in SMA patients.

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.

Muscle Nerve. 2015 Jun 25. doi: 10.1002/mus.24748. [Epub ahead of print]

PMID:
26111847
2.

209th ENMC International Workshop: Outcome Measures and Clinical Trial Readiness in Spinal Muscular Atrophy 7-9 November 2014, Heemskerk, The Netherlands.

Finkel R, Bertini E, Muntoni F, Mercuri E; ENMC SMA Workshop Study Group.

Neuromuscul Disord. 2015 Jul;25(7):593-602. doi: 10.1016/j.nmd.2015.04.009. Epub 2015 Apr 28. No abstract available.

PMID:
26045156
3.

Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family.

Zukosky K, Meilleur K, Traynor BJ, Dastgir J, Medne L, Devoto M, Collins J, Rooney J, Zou Y, Yang ML, Gibbs JR, Meier M, Stetefeld J, Finkel RS, Schessl J, Elman L, Felice K, Ferguson TA, Ceyhan-Birsoy O, Beggs AH, Tennekoon G, Johnson JO, Bönnemann CG.

JAMA Neurol. 2015 Jun 1;72(6):689-98. doi: 10.1001/jamaneurol.2015.37.

PMID:
25938801
4.

Efficacy of idebenone on respiratory function in patients with Duchenne muscular dystrophy not using glucocorticoids (DELOS): a double-blind randomised placebo-controlled phase 3 trial.

Buyse GM, Voit T, Schara U, Straathof CS, D'Angelo MG, Bernert G, Cuisset JM, Finkel RS, Goemans N, McDonald CM, Rummey C, Meier T; DELOS Study Group.

Lancet. 2015 May 2;385(9979):1748-57. doi: 10.1016/S0140-6736(15)60025-3. Epub 2015 Apr 20.

PMID:
25907158
5.

SMA functional composite score: A functional measure in spinal muscular atrophy.

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; PNCR Network, Muscle Study Group, and SMA Europe..

Muscle Nerve. 2015 Apr 3. doi: 10.1002/mus.24670. [Epub ahead of print]

PMID:
25846132
6.

Characterization of pulmonary function in Duchenne Muscular Dystrophy.

Mayer OH, Finkel RS, Rummey C, Benton MJ, Glanzman AM, Flickinger J, Lindström BM, Meier T.

Pediatr Pulmonol. 2015 May;50(5):487-94. doi: 10.1002/ppul.23172. Epub 2015 Mar 9.

PMID:
25755201
7.

Clinical phenotypes as predictors of the outcome of skipping around DMD exon 45.

Findlay AR, Wein N, Kaminoh Y, Taylor LE, Dunn DM, Mendell JR, King WM, Pestronk A, Florence JM, Mathews KD, Finkel RS, Swoboda KJ, Howard MT, Day JW, McDonald C, Nicolas A, Le Rumeur E, Weiss RB, Flanigan KM; United Dystrophinopathy Project.

Ann Neurol. 2015 Apr;77(4):668-74. doi: 10.1002/ana.24365. Epub 2015 Mar 2.

PMID:
25612243
8.

The 'dirty downside' of global sporting events: focus on human trafficking for sexual exploitation.

Finkel R, Finkel ML.

Public Health. 2015 Jan;129(1):17-22. doi: 10.1016/j.puhe.2014.11.006. Epub 2014 Dec 29. Review.

PMID:
25553921
9.

Spectrum of neuropathophysiology in spinal muscular atrophy type I.

Harding BN, Kariya S, Monani UR, Chung WK, Benton M, Yum SW, Tennekoon G, Finkel RS.

J Neuropathol Exp Neurol. 2015 Jan;74(1):15-24. doi: 10.1097/NEN.0000000000000144.

PMID:
25470343
10.

CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis.

Fridman V, Bundy B, Reilly MM, Pareyson D, Bacon C, Burns J, Day J, Feely S, Finkel RS, Grider T, Kirk CA, Herrmann DN, Laurá M, Li J, Lloyd T, Sumner CJ, Muntoni F, Piscosquito G, Ramchandren S, Shy R, Siskind CE, Yum SW, Moroni I, Pagliano E, Zuchner S, Scherer SS, Shy ME; on behalf of the Inherited Neuropathies Consortium.

J Neurol Neurosurg Psychiatry. 2014 Nov 27. pii: jnnp-2014-308826. doi: 10.1136/jnnp-2014-308826. [Epub ahead of print]

11.

Magnetic resonance imaging and spectroscopy assessment of lower extremity skeletal muscles in boys with Duchenne muscular dystrophy: a multicenter cross sectional study.

Forbes SC, Willcocks RJ, Triplett WT, Rooney WD, Lott DJ, Wang DJ, Pollaro J, Senesac CR, Daniels MJ, Finkel RS, Russman BS, Byrne BJ, Finanger EL, Tennekoon GI, Walter GA, Sweeney HL, Vandenborne K.

PLoS One. 2014 Sep 9;9(9):e106435. doi: 10.1371/journal.pone.0106435. eCollection 2014. Erratum in: PLoS One. 2014;9(10):e111822.

12.

Examination of effects of corticosteroids on skeletal muscles of boys with DMD using MRI and MRS.

Arpan I, Willcocks RJ, Forbes SC, Finkel RS, Lott DJ, Rooney WD, Triplett WT, Senesac CR, Daniels MJ, Byrne BJ, Finanger EL, Russman BS, Wang DJ, Tennekoon GI, Walter GA, Sweeney HL, Vandenborne K.

Neurology. 2014 Sep 9;83(11):974-80. doi: 10.1212/WNL.0000000000000775. Epub 2014 Aug 6.

PMID:
25098537
13.

Observational study of spinal muscular atrophy type I and implications for clinical trials.

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.

Neurology. 2014 Aug 26;83(9):810-7. doi: 10.1212/WNL.0000000000000741. Epub 2014 Jul 30.

PMID:
25080519
14.

Ataluren treatment of patients with nonsense mutation dystrophinopathy.

Bushby K, Finkel R, Wong B, Barohn R, Campbell C, Comi GP, Connolly AM, Day JW, Flanigan KM, Goemans N, Jones KJ, Mercuri E, Quinlivan R, Renfroe JB, Russman B, Ryan MM, Tulinius M, Voit T, Moore SA, Lee Sweeney H, Abresch RT, Coleman KL, Eagle M, Florence J, Gappmaier E, Glanzman AM, Henricson E, Barth J, Elfring GL, Reha A, Spiegel RJ, O'donnell MW, Peltz SW, Mcdonald CM; PTC124-GD-007-DMD STUDY GROUP.

Muscle Nerve. 2014 Oct;50(4):477-87. doi: 10.1002/mus.24332.

15.

Reply: To PMID 23893312.

Kang PB, Gooch CL, McDermott MP, Darras BT, Finkel RS, Yang ML, Sproule DM, Chung WK, Kaufmann P, De Vivo DC; Muscle Study Group and the Pediatric Neuromuscular Clinical Research Network for Spinal Muscular Atrophy.

Muscle Nerve. 2014 Sep;50(3):458-9. doi: 10.1002/mus.24317. Epub 2014 Aug 5. No abstract available.

PMID:
24935909
16.

Respiratory muscle function in infants with spinal muscular atrophy type I.

Finkel RS, Weiner DJ, Mayer OH, McDonough JM, Panitch HB.

Pediatr Pulmonol. 2014 Dec;49(12):1234-42. doi: 10.1002/ppul.22997. Epub 2014 Apr 29.

PMID:
24777943
17.

Clinical, pathologic, and mutational spectrum of dystroglycanopathy caused by LARGE mutations.

Meilleur KG, Zukosky K, Medne L, Fequiere P, Powell-Hamilton N, Winder TL, Alsaman A, El-Hattab AW, Dastgir J, Hu Y, Donkervoort S, Golden JA, Eagle R, Finkel R, Scavina M, Hood IC, Rorke-Adams LB, Bönnemann CG.

J Neuropathol Exp Neurol. 2014 May;73(5):425-41. doi: 10.1097/NEN.0000000000000065.

PMID:
24709677
18.

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, McCallie D Jr, Szolovits P, Willard HF, Mendelsohn NJ, Temme R, Finkel RS, Yum SW, Medne L, Sunyaev SR, Adzhubey I, Cassa CA, de Bakker PI, Duzkale H, Dworzyński P, Fairbrother W, Francioli L, Funke BH, Giovanni MA, Handsaker RE, Lage K, Lebo MS, Lek M, Leshchiner I, MacArthur DG, McLaughlin HM, Murray MF, Pers TH, Polak PP, Raychaudhuri S, Rehm HL, Soemedi R, Stitziel NO, Vestecka S, Supper J, Gugenmus C, Klocke B, Hahn A, Schubach M, Menzel M, Biskup S, Freisinger P, Deng M, Braun M, Perner S, Smith RJ, Andorf JL, Huang J, Ryckman K, Sheffield VC, Stone EM, Bair T, Black-Ziegelbein EA, Braun TA, Darbro B, DeLuca AP, Kolbe DL, Scheetz TE, Shearer AE, Sompallae R, Wang K, Bassuk AG, Edens E, Mathews K, Moore SA, Shchelochkov OA, Trapane P, Bossler A, Campbell CA, Heusel JW, Kwitek A, Maga T, Panzer K, Wassink T, Van Daele D, Azaiez H, Booth K, Meyer N, Segal MM, Williams MS, Tromp G, White P, Corsmeier D, Fitzgerald-Butt S, Herman G, Lamb-Thrush D, McBride KL, Newsom D, Pierson CR, Rakowsky AT, Maver A, Lovrečić L, Palandačić A, Peterlin B, Torkamani A, Wedell A, Huss M, Alexeyenko A, Lindvall JM, Magnusson M, Nilsson D, Stranneheim H, Taylan F, Gilissen C, Hoischen A, van Bon B, Yntema H, Nelen M, Zhang W, Sager J, Zhang L, Blair K, Kural D, Cariaso M, Lennon GG, Javed A, Agrawal S, Ng PC, Sandhu KS, Krishna S, Veeramachaneni V, Isakov O, Halperin E, Friedman E, Shomron N, Glusman G, Roach JC, Caballero J, Cox HC, Mauldin D, Ament SA, Rowen L, Richards DR, San Lucas FA, Gonzalez-Garay ML, Caskey CT, Bai Y, Huang Y, Fang F, Zhang Y, Wang Z, Barrera J, Garcia-Lobo JM, González-Lamuño D, Llorca J, Rodriguez MC, Varela I, Reese MG, De La Vega FM, Kiruluta E, Cargill M, Hart RK, Sorenson JM, Lyon GJ, Stevenson DA, Bray BE, Moore BM, Eilbeck K, Yandell M, Zhao H, Hou L, Chen X, Yan X, Chen M, Li C, Yang C, Gunel M, Li P, Kong Y, Alexander AC, Albertyn ZI, Boycott KM, Bulman DE, Gordon PM, Innes AM, Knoppers BM, Majewski J, Marshall CR, Parboosingh JS, Sawyer SL, Samuels ME, Schwartzentruber J, Kohane IS, Margulies DM.

Genome Biol. 2014 Mar 25;15(3):R53. doi: 10.1186/gb-2014-15-3-r53.

19.

Diagnostic approach to the congenital muscular dystrophies.

Bönnemann CG, Wang CH, Quijano-Roy S, Deconinck N, Bertini E, Ferreiro A, Muntoni F, Sewry C, Béroud C, Mathews KD, Moore SA, Bellini J, Rutkowski A, North KN; Members of International Standard of Care Committee for Congenital Muscular Dystrophies.

Neuromuscul Disord. 2014 Apr;24(4):289-311. doi: 10.1016/j.nmd.2013.12.011. Epub 2014 Jan 9.

20.

Rapid thinning of Pine Island Glacier in the early Holocene.

Johnson JS, Bentley MJ, Smith JA, Finkel RC, Rood DH, Gohl K, Balco G, Larter RD, Schaefer JM.

Science. 2014 Feb 28;343(6174):999-1001. doi: 10.1126/science.1247385. Epub 2014 Feb 20.

PMID:
24557837
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