Results 171 to 180 of about 55,263 (257)

Interests and Experiences of Young Adults with Muscular Dystrophy in Receiving Genetic Information. [PDF]

J Child Neurol
Hammond L, Ippolito C, Amburgey K, Chitayat D, Hewson S, McAdam L.   +5 more
europepmc   +1 more source

Twenty-five years of AIM: from the initiative of a small group of myologists to a successful Italian research institution. The story of the Italian Association of Myology. [PDF]

Acta Myol
Mongini TE, Politano L.
europepmc   +1 more source

A Viewpoint on Reframing Genetic Myopathy Classification: A Unified, Semiotic, Tri-Axis Approach. [PDF]

Ann Indian Acad Neurol
Khadilkar SV, Halani HA.
europepmc   +1 more source

A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement [PDF]

, 1996
Becker, A.E. (Anton), Bouwsma, G. (G.), Busch, H.F.M. (Herman), Kooj, A.J. (Anneke), Ledderhof, T.M. (T.), Res, J. (Jan), Troost, D. (Dirk), Visser, M. (Marianne) de, Voogt, W.G. (W.) de   +8 more
core   +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

Three-dimensional tissue engineered skeletal muscle modelling facioscapulohumeral muscular dystrophy. [PDF]

Brain
Franken M, van der Wal E, Zheng D, den Hamer B, van der Vliet PJ, Lemmers RJLF, van den Heuvel A, Dorn AL, Duivenvoorden CGA, In 't Groen SLM, Freund C, Eussen B, Tawil R, van Engelen BGM, Pijnappel WWMP, van der Maarel SM, de Greef JC.   +16 more
europepmc   +1 more source

From iPSCs to myotubes: Identifying potential biomarkers for human FSHD by single-cell transcriptomics. [PDF]

Clin Transl Med
Liu W, Chen H, Jiao J, Zhang Q, Liang D, Huo H, Ji X, Huang M, Hou X, Cao Y, Wu S, Wang Y, Zhang J, Xu Z, Hu P.   +14 more
europepmc   +1 more source

Optimising the molecular investigation of the FSHD locus: an integrated workflow using single molecule optical mapping and Southern blot analysis. [PDF]

J Med Genet
Jang J, Sung H, Lee JA, Cho SI, Lee JS, Seong MW.   +5 more
europepmc   +1 more source

DNA-binding sequence specificity of DUX4 [PDF]

Erik A. Toso, Hideki Aihara, John K. Lee, Joslynn S. Lee, Matthew Slattery, Michael Kyba, Si Ho Choi, Yu Zhang   +7 more
core   +1 more source

State-of-the-Art and Future Challenges for Nutritional Interventions in Facioscapulohumeral Dystrophy: A Narrative Review. [PDF]

Nutrients
Quintiero V, Crisafulli O, Diotti D, Tupler R, Negro M, Lavaselli E, D'Antona G.   +6 more
europepmc   +1 more source