Results 131 to 140 of about 5,189 (209)

MyomiRs Expression in Limb Girdle Muscular Dystrophy. [PDF]

IUBMB Life
Breveglieri G, Altieri MT, Rodia MT, Costa R, Frabetti F, Cenacchi G, Sabbioni G, Borgatti M.   +7 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

Anterior Horn Cell Disease in Adulthood: Unmasking Spinal Muscular Atrophy Type 4. [PDF]

Cureus
Rafique S, Odeh A.
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

Sleep Disordered Breathing and Its Predictors in Pediatric Muscular Dystrophies. [PDF]

J Clin Med
Abu Zahra M, Arens R, Essibayi MA, Patel N.   +3 more
europepmc   +1 more source

Autosomal dominant and recessive limb-girdle muscular dystrophies : clinical, genetic relative frequency in a large Italian population

, 2007
A. Prelle, M. Moggio, F. Magri, N. Bresolin, M. G. D'Angelo, C. Lamperti, G.P. Comi, R. Cagliani, C. Zecca, F. Fortunato, S. Ghezzi, S. Lucchiari, R. Del Bo, M. Mora, M. Guglieri, L. Morandi, S. Salani   +16 more
core  

Pediatric HyperCKemia: a 13-year retrospective study and predictors of neuromuscular disease and metabolic myopathy. [PDF]

Eur J Pediatr
Aires Martins I, Baptista de Lima J, Coelho MP, Bandeira A, Martins E, Correia J.   +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

Psycho-organic symptoms as early manifestation of adult onset POMT1-related limb girdle muscular dystrophy

We report two siblings of Croatian consanguineous healthy parents with a novel homozygous missense mutation in the POMT1 gene, presenting with intellectual disability and psychotic, in particular hallucinatory symptoms and abnormal brain MRIs, preceding ...
Bilic K, Bushby K, Mitrovic Z, Huebner A, Barresi R, Lochmuller H, Fumic K, Baric I, von der Hagen M, Zarkovic K, Kranz K, Berlengi L, Straub V, Haberlova J, Baric V, Lovric D   +15 more
core  

Clinico-genetic heterogeneity in Pakistani families affected with muscular dystrophies. [PDF]

Mol Biol Rep
Ahmad R, Hashmi MA, Ullah A, Rehman UU, Naeem M, Houlden H.   +5 more
europepmc   +1 more source