Results 111 to 120 of about 3,537,976 (165)

Convergent innate immune and regulated cell-death pathways in selected myopathies. [PDF]

Front Immunol
Yamashita M, Park J, Park S, Kang HJ, Chung YS, Lim SA, Lee S.   +6 more
europepmc   +1 more source

READYCOM: protocol for a 2-year prospective natural history and cross-sectional muscle-fatigability study for improving trial readiness in congenital myopathies. [PDF]

BMJ Open
van de Camp SAJH, Brenninkmeijer R, van Doorn JLM, de Laat ECM, Pomp L, Stinissen L, Cameron D, Groothuis JT, van Alfen N, Jungbluth H, Erasmus CE, Bartels B, Wadman RI, Voet NBM, van der Pol WL, Voermans NC.   +15 more
europepmc   +1 more source

Clinical and Genetic Analysis of L-2-Hydroxyglutaric Aciduria Caused by a Novel <i>L2HGDH</i> Mutation with a Concurrent <i>RYR1</i> Variant. [PDF]

Genes (Basel)
Beyzaei Z, Dehghani SM, Geramizadeh B, Weiskirchen R.   +3 more
europepmc   +1 more source

Congenital core myopathy linked to <i>SOX5</i>: Expanding the phenotypical spectrum of Lamb-Shaffer syndrome. [PDF]

J Neuromuscul Dis
Staedler K, Gerasimenko A, Nava C, Heron D, Schaerer E, Gitiaux C, Authier FJ, Stojkovic T, Malfatti E, Villar-Quiles RN.   +9 more
europepmc   +1 more source

Skipping the Biopsy: Real-World Experience of Whole-Exome Sequencing as First-Tier Testing in Pediatric Muscular Disorders. [PDF]

Int J Mol Sci
Lee CL, Chang YH, Chuang CK, Chiu HC, Tu YR, Lo YT, Wu JY, Lin HY, Lin SP.   +8 more
europepmc   +1 more source

The Genetics of Atrial Fibrillation: From Molecular Mechanisms to Precision Medicine. [PDF]

Cureus
Hinge DD, Shelke A, Kawade R, Patil S.
europepmc   +1 more source

Rhabdomyolysis: a narrative review. [PDF]

Arq Neuropsiquiatr
Tengan CH, Oliveira ASB, Carvalho AAS, Souza CDS, Sobreira CFDR, Zanoteli E, Silva HCAD.   +6 more
europepmc   +1 more source

Statins and Myasthenia Gravis: Clinical Implications and Pathogenesis. [PDF]

Int J Mol Sci
Tian X, Zhang P.
europepmc   +1 more source

<i>ACTA1</i>-related congenital myopathy in a neonate: a case report and literature review. [PDF]

Front Pediatr
Zhao L, Deng F, Cai B.
europepmc   +1 more source