Latest Articles

Subject

Article
Congenital myopathies in the adult neuromuscular clinicDiagnostic challenges and pitfalls
Stefan Nicolau, Teerin Liewluck, Jennifer A. Tracy, et al.

June 04, 2019
Article
DMPK gene DNA methylation levels are associated with muscular and respiratory profiles in DM1
Cécilia Légaré, Gayle Overend, Simon-Pierre Guay, et al.

May 23, 2019
Article
Novel mutation in TNPO3 causes congenital limb-girdle myopathy with slow progression
Anna Vihola, Johanna Palmio, Olof Danielsson, et al.

May 02, 2019
Article
Brain-derived neurotrophic factor, epigenetics in stroke skeletal muscle, and exercise training
Alice S. Ryan, Huichun Xu, Frederick M. Ivey, et al.

May 01, 2019
Article
Novel pathogenic VPS13A gene mutations in Japanese patients with chorea-acanthocytosis
Yoshiaki Nishida, Masayuki Nakamura, Yuka Urata, et al.

May 01, 2019
Article
Hybrid gel electrophoresis using skin fibroblasts to aid in diagnosing mitochondrial disease
Christopher Newell, Aneal Khan, David Sinasac, et al.

May 01, 2019
Editorial
HACE1, RAC1, and what else in the pathogenesis of SPPRS?
Han-Xiang Deng

April 30, 2019
Article
HACE1 deficiency leads to structural and functional neurodevelopmental defects
Vanja Nagy, Ronja Hollstein, Tsung-Pin Pai, et al.

April 30, 2019
Clinical/Scientific Notes
X-linked myotubular myopathy and recurrent spontaneous pneumothoraxA new phenotype?
Per-Ole Carstens, Eva Maria Christina Schwaibold, Katharina Schregel, et al.

April 26, 2019
Article
Oligogenic basis of sporadic ALSThe example of SOD1 p.Ala90Val mutation
Liina Kuuluvainen, Karri Kaivola, Saana Mönkäre, et al.

April 23, 2019

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