Results 91 to 100 of about 7,069 (164)

Whole Genome Sequence Identifies the Second Allele: An Intronic Variant in RYR1 Contributes to Early-Onset Fetal Akinesia Deformation Sequence. [PDF]

Mol Syndromol
Wang M, Hong J, Han S, Jin P, Xu C, Qian Y, Dong M.   +6 more
europepmc   +1 more source

The Impact of Heritable Myopathies on Gastrointestinal Skeletal Muscle Function. [PDF]

Cell Mol Gastroenterol Hepatol
Iyer A, Alizadeh M, Mariano JM, Kontrogianni-Konstantopoulos A, Raufman JP.   +4 more
europepmc   +1 more source

Pregnancy outcomes in idiopathic inflammatory myopathies: a Portuguese multicentre study. [PDF]

Front Med (Lausanne)
Lopes AR, Teodósio Chícharo A, Campanilho-Marques R, Abreu C, Rodrigues SD, Santos I, Paramés F, Barreira SC, Pulido-Valente M, Pinto L, Cruz-Machado AR, Capela S.   +11 more
europepmc   +1 more source

Novel biomarkers of changes in muscle mass or muscle pathology [PDF]

, 2017
Arvanitidis, Athanasios
core  

X-linked Emery-Dreifuss muscular dystrophy caused by a novel <i>FHL1</i> mutation: A case report. [PDF]

J Int Med Res
Zhang H, Tang S, Zhang W, Wang W, Tang W.   +4 more
europepmc   +1 more source

The role of genetics and molecular mechanisms in early onset scoliosis. [PDF]

J Clin Orthop Trauma
Feng S, Du Y, Choi SW, Cheung KSC, Cheung JPY, Su Z.   +5 more
europepmc   +1 more source

Integrative Multi-Omics and Network Analyses Reveal Pathogenic and Protective Pathways in Centronuclear Myopathies. [PDF]

Int J Mol Sci
Simon A, Gineste C, Reiss D, Thompson JD, Laporte J.   +4 more
europepmc   +1 more source

RYR 1 Gene Mutation in Motor Neuron Disease: A 10-Year Case Observation. [PDF]

Case Rep Neurol Med
Posa A, Kornhuber M.
europepmc   +1 more source

Genetic Susceptibility to Sport-Related Muscle Injuries: Insights from the Literature and Novel Gene Candidates. [PDF]

Int J Mol Sci
Leońska-Duniec A.
europepmc   +1 more source

Outcomes of an oral motor and swallowing rehabilitation program in patients with congenital myopathies. [PDF]

Codas
Dornellas ALC, Sassi FC, Ritto AP, Medeiros GC, Andrade CRF.   +4 more
europepmc   +1 more source