E-LIB Suche - Ergebnisse für: Finkel, Richard S.

1

Can the CHOP-INTEND be used as An Outcome Measure in the Fi..:

Cutrona, Costanza ; de Sanctis, Roberto ; Coratti, Giorgia...
Journal of Neuromuscular Diseases. 11 (2024) 1 - p. 85-90 , 2024

Link: https://doi.org/10.3233/..

2

Real-World Outcomes in Patients with Spinal Muscular Atroph..:

Servais, Laurent ; Day, John W. ; De Vivo, Darryl C....
Journal of Neuromuscular Diseases. 11 (2024) 2 - p. 425-442 , 2024

Link: https://doi.org/10.3233/..

3

Draft Guidance for Industry Duchenne Muscular Dystrophy, Be..:

McDonald, Craig ; Camino, Eric ; Escandon, Rafael...
Journal of Neuromuscular Diseases. 11 (2024) 2 - p. 499-523 , 2024

Link: https://doi.org/10.3233/..

4

Beyond Contractures in Spinal Muscular Atrophy: Identifying..:

Harding, Elizabeth R. ; Kanner, Cara H. ; Pasternak, Amy...
Journal of Clinical Medicine. 13 (2024) 9 - p. 2634 , 2024

Link: https://doi.org/10.3390/..

5

Efficacy and Safety of Vamorolone Over 48 Weeks in Boys Wit..:

Dang, Utkarsh J. ; Damsker, Jesse M. ; Guglieri, Michela...
Neurology. 102 (2024) 5 - p. , 2024

Link: https://doi.org/10.1212/..

6

Genetic analysis and natural history of Charcot-Marie-Tooth..:

Record, Christopher J ; Skorupinska, Mariola ; Laura, Matilde...
Brain. 146 (2023) 10 - p. 4336-4349 , 2023

Link: https://doi.org/10.1093/..

7

Association of Body Mass Index With Disease Progression in ..:

Donlevy, Gabrielle A. ; Cornett, Kayla M.D. ; Garnett, Sarah P....
Neurology. 101 (2023) 7 - p. , 2023

Link: https://doi.org/10.1212/..

8

Gene‐targeted therapies: Towards equitable development, dia..:

Gaviglio, Amy M. ; Skinner, Mark W. ; Lou, Lily J....
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 193 (2023) 1 - p. 56-63 , 2023

Link: https://doi.org/10.1002/..

9

Continued benefit of nusinersen initiated in the presymptom..:

Crawford, Thomas O. ; Swoboda, Kathryn J. ; De Vivo, Darryl C....
Muscle & Nerve. 68 (2023) 2 - p. 157-170 , 2023

Link: https://doi.org/10.1002/..

10

2-Year Change in Revised Hammersmith Scale Scores in a Larg..:

Stimpson, Georgia ; Ramsey, Danielle ; Wolfe, Amy...
Journal of Clinical Medicine. 12 (2023) 5 - p. 1920 , 2023

Link: https://doi.org/10.3390/..

11

Validation of the parent‐proxy version of the pediatric Cha..:

Wu, Tong Tong ; Finkel, Richard S. ; Siskind, Carly E....
Journal of the Peripheral Nervous System. 28 (2023) 3 - p. 382-389 , 2023

Link: https://doi.org/10.1111/..

12

Neuropathy due to bi-allelic SH3TC2 variants: genotype-phen..:

Rehbein, Tyler ; Wu, Tong Tong ; Treidler, Simona...
Brain. 146 (2023) 9 - p. 3826-3835 , 2023

Link: https://doi.org/10.1093/..

13

Unusually severe muscular dystrophy upon in-frame deletion ..:

Gorokhova, Svetlana ; Schessl, Joachim ; Zou, Yaqun...
Med. 4 (2023) 4 - p. 245-251.e3 , 2023

Link: https://doi.org/10.1016/..

14

Combination disease‐modifying treatment in spinal muscular ..:

Proud, Crystal M. ; Mercuri, Eugenio ; Finkel, Richard S....
Annals of Clinical and Translational Neurology. 10 (2023) 11 - p. 2155-2160 , 2023

Link: https://doi.org/10.1002/..

15

Nusinersen Treatment of Children with Later-Onset Spinal Mu..:

Dunaway Young, Sally ; Montes, Jacqueline ; Glanzman, Allan M....
Journal of Clinical Medicine. 12 (2023) 15 - p. 4901 , 2023

Link: https://doi.org/10.3390/..