Results 91 to 100 of about 2,687 (150)

Emerging roles of microRNAs and other non-coding transcriptome in muscular dystrophies. [PDF]

Inflamm Regen
Abdelrehim FG, Sadek Z, Fahim SA, El-Ekiaby N, Abdelaziz AI, Fawzy IO.   +5 more
europepmc   +1 more source

Evaluation of the methodology of independent Community Advisory Boards in health products research and development: a mixed-methods cross-sectional survey study. [PDF]

Res Involv Engagem
Camp R, Borroni S, DeKeyser H, Hees M, Leijenhorst A, Nasrulloeva M, Trigos D, Houÿez F.   +7 more
europepmc   +1 more source

Clinical and Genetic Characterization of the Largest Cohort of Patients With D3 Limb-Girdle Muscular Dystrophy in an Isolated Uruguayan Population. [PDF]

Eur J Neurol
Demicheli E, Zamora A, Sánchez N, Colistro V, Vicente B, Salazar E, Chiesa M, Santos A, Benvenuto F, Sans M, Vázquez MC.   +10 more
europepmc   +1 more source

Bridging science and hope: the evolving story of gene therapy for neuromuscular diseases. [PDF]

Front Cell Dev Biol
Wein N, Barthélémy F.
europepmc   +1 more source

A Novel Exon Duplication in the <i>SACS</i> Gene in Charlevoix-Saguenay Ataxia and a Summary of Polish Cases. [PDF]

Appl Clin Genet
Fichna JP, Elert-Dobkowska E, Radziwonik-Fraczyk W, Ziora-Jakutowicz K, Wężyk MM, Berdyński M, Zaremba J, Żekanowski C, Bednarska-Makaruk M.   +8 more
europepmc   +1 more source

Whole-exome sequencing identifies TRIM72 as a candidate gene for autosomal recessive limb-girdle muscular dystrophy. [PDF]

Hum Genomics
Tlili A, Al Mutery A.
europepmc   +1 more source

Dantrolene-Responsive Muscle Stiffness in a Patient With a Normal Neurologic Exam and EMG: A Case Report. [PDF]

Case Rep Neurol Med
Deardorff AS, Burford MJ, Rich MM.
europepmc   +1 more source

Recurrent <i>CAPN3</i> p.Asp753Asn Variant Supports a Potential Dominant Calpainopathy with Variable Clinical Expressivity. [PDF]

Int J Mol Sci
D'Este G, Giorgetti A, Cassandrini D, Magri F, Ronchi D, Rubegni A, Lopergolo D, Malandrini A, Merlini L, Vattemi G, Tonin P, Barresi R.   +11 more
europepmc   +1 more source

Integrative Transcriptomic and Network-Based Analysis of Neuromuscular Diseases. [PDF]

Int J Mol Sci
García-Criado F, Hurtado-García L, Rojano E, Esteban-Martos Á, Pérez-García J, Seoane P, Ranea JAG.   +6 more
europepmc   +1 more source

Molecular Insights and Orthopedic Management in Muscular Dystrophies: A Comprehensive Review. [PDF]

Int J Mol Sci
Lejman J, Pytlak M, Danielewicz A, Rutz E, Latalski M, Lejman M.   +5 more
europepmc   +1 more source