Results 91 to 100 of about 2,672 (146)

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

Increasing recognition of statin-associated anti-HMGCR antibody-positive autoimmune myopathy: a single-center retrospective study. [PDF]

Clin Rheumatol
Mali M, Pirilä L, Jokela M, Pääkkö T, Mali M.   +4 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

Genetic and Clinical Spectrum of Limb-Girdle Muscular Dystrophies in Western Sicily. [PDF]

Genes (Basel)
Rini N, Lupica A, Alonge P, Crescimanno G, Pignolo A, Messina C, Santa Paola S, Giuliano M, Borgione E, Lo Giudice M, Scuderi C, Di Stefano V, Brighina F.   +12 more
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

Bio-Inspired Motion-Contour-Guided Visual System for Contrast-Independent Looming Perception. [PDF]

Biomimetics (Basel)
Yao J, Zhang J, Zhong Z, He H, Wang H.
europepmc   +1 more source