Results 131 to 140 of about 2,278 (204)

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

Nemaline myopathy mechanisms [PDF]

Nature Genetics, 1995
openaire   +1 more source

Relevance of muscle biopsies in the neonatal and early infantile period: a 52 years retrospective study in the gene-sequencing era. [PDF]

Acta Neuropathol Commun
Bui MT, Fernández-Eulate G, Evangelista T, Lacène E, Brochier G, Labasse C, Madelaine A, Chanut A, Beuvin M, Borsato-Levy F, Biancalana V, Barcia G, De Lonlay P, Laporte J, Böhm J, Romero NB.   +15 more
europepmc   +1 more source

NMPhenogen: a comprehensive database for genotype-phenotype correlation in neuromuscular genetic disorders. [PDF]

Front Neurosci
Manjunath U, R V, Kulkarni SS, Reddy HN, Anil A, Mishra RK, Iyer GR.   +6 more
europepmc   +1 more source

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

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

, 2017
Arvanitidis, Athanasios
core  

Nemaline Myopathy With a Compound Heterozygous Mutation: A Case Report. [PDF]

Cureus
Chalipat S, Talewad S, Gupta A, Bahal M, Mane SV.   +4 more
europepmc   +1 more source

Late-onset myopathy responsive to immunomodulatory treatment: sporadic late-onset nemaline myopathy without nemaline rods? [PDF]

BMJ Neurol Open
Sadeh M, Fellig Y, Dabby R.
europepmc   +1 more source

Molecular Bases of Myopathies and Their Impact on Clinical Practice: Advances and Future Perspectives. [PDF]

Int J Mol Sci
Campuzano-Donoso M, Reytor-González C, Toral-Noristz M, González Y, Simancas-Racines D.   +4 more
europepmc   +1 more source