Results 261 to 270 of about 13,537,879 (292)

Coexistence of a CAV3 mutation and a DMD deletion in a family with complex muscular diseases.

Brain & development (Tokyo. 1979), 2019
Whole-exome sequencing (WES) can comprehensively detect both pathogenic single nucleotide variants and copy number variants, enabling identification of a coexistence of two or more genetic etiologies.
Takuya Hiraide, T. Ogata, Seiji Watanabe, M. Nakashima, T. Fukuda, H. Saitsu   +5 more
semanticscholar   +1 more source

Muscular dystrophies.

The Lancet, 2019
Muscular dystrophies are primary diseases of muscle due to mutations in more than 40 genes, which result in dystrophic changes on muscle biopsy.
E. Mercuri, C. Bonnemann, Francesco Muntoni   +2 more
semanticscholar   +1 more source

Aminotransferases and muscular diseases: A disregarded lesson. Case reports and review of the literature

Journal of Paediatrics and Child Health, 2012
C. Veropalumbo, E. Del Giudice, G. Esposito, S. Maddaluno, L. Ruggiero, P. Vajro   +5 more
semanticscholar   +1 more source

Coping with illness-related problems in persons with progressive muscular diseases: the Swedish version of the Ways of Coping Questionnaire.

Scandinavian Journal of Caring Sciences, 2002
G. Ahlström, S. Wenneberg
semanticscholar   +1 more source

Disease Modifying Therapies for the Management of Children with Spinal Muscular Atrophy (5q SMA): An Update on the Emerging Evidence

Drug Design, Development and Therapy, 2022
Thomas Sejersen, Helgi Thor Hjartarson
exaly  

Stem cells and plasticity of skeletal muscle cell differentiation: potential application to cell therapy for degenerative muscular diseases.

Regenerative medicine, 2007
T. Endo
semanticscholar   +1 more source

Clinical laboratory monitoring of coenzyme Q10 use in neurologic and muscular diseases.

American Journal of Clinical Pathology, 2004
Paul Steele, Peter H. Tang, A. DeGrauw, M. V. Miles   +3 more
semanticscholar   +1 more source

Swallowing Disorders in Muscular Diseases: Functional Assessment and Indications of Cricopharyngeal Myotomy

Ear, nose, & throat journal, 1994
J. St. Guily, S. Périé, T. Willig, S. Chaussade, B. Eymard, B. Angelard   +5 more
semanticscholar   +1 more source

Reduced cortico-muscular beta coupling in Parkinson's disease predicts motor impairment.

Brain Communications, 2021
Anna Christina Nobre, Michele T M Hu, Nahid Zokaei   +2 more
exaly