Volume 2; Issue 4

Journal of Neuromuscular Diseases

Volume 2; Issue 4

1

Comparison of Experimental Protocols of Physical Exercise for mdx Mice and Duchenne Muscular Dystrophy Patients

Hyzewicz, Janek, Ruegg, Urs T., Takeda, Shin’ichi

Journal:

Journal of Neuromuscular Diseases

Year:

2015

Language:

english

File:

PDF, 795 KB

english, 2015

2

Functional Characterization of a Central Core Disease RyR1 Mutation (p.Y4864H) Associated with Quantitative Defect in RyR1 Protein

Cacheux, Marine, Blum, Ariane, Sébastien, Muriel, Wozny, Anne Sophie, Brocard, Julie, Mamchaoui, Kamel, Mouly, Vincent, Roux-Buisson, Nathalie, Rendu, John, Monnier, Nicole, Krivosic, Renée, Allen, Pa

Journal:

Journal of Neuromuscular Diseases

Year:

2015

Language:

english

File:

PDF, 640 KB

english, 2015

3

Single-Blind, Randomized, Controlled Clinical Trial of Exercise in Ambulatory Spinal Muscular Atrophy: Why are the Results Negative?

Montes, Jacqueline, Garber, Carol Ewing, Kramer, Samantha S., Montgomery, Megan J., Dunaway, Sally, Kamil-Rosenberg, Shirit, Carr, Brendan, Cruz, Rosangel, Strauss, Nancy E., Sproule, Douglas, De Vivo

Journal:

Journal of Neuromuscular Diseases

Year:

2015

Language:

english

File:

PDF, 299 KB

english, 2015

4

Orthopedic Management of Scoliosis by Garches Brace and Spinal Fusion in SMA Type 2 Children

Catteruccia, Michela, Vuillerot, Carole, Vaugier, Isabelle, Leclair, Danielle, Azzi, Viviane, Viollet, Louis, Estournet, Brigitte, Bertini, Enrico, Quijano-Roy, Susana

Journal:

Journal of Neuromuscular Diseases

Year:

2015

Language:

english

File:

PDF, 300 KB

english, 2015

5

Genome Editing Gene Therapy for Duchenne Muscular Dystrophy

Journal:

Journal of Neuromuscular Diseases

Year:

2015

Language:

english

File:

PDF, 668 KB

english, 2015

6

A Large Deletion Affecting TPM3, Causing Severe Nemaline Myopathy

Kiiski, K., Lehtokari, V-L., Manzur, A.Y., Sewry, C., Zaharieva, I., Muntoni, F., Pelin, K., Wallgren-Pettersson, C.

Journal:

Journal of Neuromuscular Diseases

Year:

2015

Language:

english

File:

PDF, 402 KB

english, 2015

7

Feeding and Swallowing Disorders in Pediatric Neuromuscular Diseases: An Overview

van den Engel-Hoek, Lenie, de Groot, Imelda J.M., de Swart, Bert J.M., Erasmus, Corrie E.

Journal:

Journal of Neuromuscular Diseases

Year:

2015

Language:

english

File:

PDF, 94 KB

english, 2015

8

Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease

Wesolowska, Maria, Gorman, Grainne S., Alston, Charlotte L., Pajak, Aleksandra, Pyle, Angela, He, Langping, Griffin, Helen, Chinnery, Patrick F., Miller, James A.L., Schaefer, Andrew M., Taylor, Rober

Journal:

Journal of Neuromuscular Diseases

Year:

2015

Language:

english

File:

PDF, 672 KB

english, 2015

9

An Antibody to Detect Alanine-Expanded PABPN1: A New Tool to Study Oculopharyngeal Muscular Dystrophy

Vest, Katherine E., Apponi, Luciano H., Banerjee, Ayan, Pavlath, Grace K., Corbett, Anita H.

Journal:

Journal of Neuromuscular Diseases

Year:

2015

Language:

english

File:

PDF, 280 KB

english, 2015

10

MicroRNA and mRNA Expression Changes in Steroid Naïve and Steroid Treated DMD Patients

Liu, Da Zhi, Stamova, Boryana, Hu, Shengyong, Ander, Bradley P., Jickling, Glen C., Zhan, Xinhua, Sharp, Frank R., Wong, Brenda

Journal:

Journal of Neuromuscular Diseases

Year:

2015

Language:

english

File:

PDF, 702 KB

english, 2015

11

Night Activity Reduction is a Signature Physiological Biomarker for Duchenne Muscular Dystrophy Dogs

Hakim, Chady H., Peters, Austin A., Feng, Feng, Yao, Gang, Duan, Dongsheng

Journal:

Journal of Neuromuscular Diseases

Year:

2015

Language:

english

File:

PDF, 722 KB

english, 2015