Results 71 to 80 of about 2,881 (205)

Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking [PDF]

, 2019
Charcot-Marie-Tooth type 4 (CMT4) is an autosomal recessive severe form of neuropathy with genetic heterogeneity. CMT4B1 is caused by mutations in the myotubularin-related 2 (MTMR2) gene and as a member of the myotubularin family, the MTMR2 protein is ...
AziziMalamiri, R, Bayram, N, Bibi, F, Cirak, S, Cooper, E, Efthymiou, S, Galehdari, H, Houlden, H, Jamshidi, Y, Kaçar Bayram, A, Mazaheri, N, Naghibzadeh, K, Nedic, I, Ozdemir, O, Per, H, Pergrande, M, Salpietro, V, Sami Güven, A, Shalbafan, B, Shariati, G, Sprute, R, Stumpfe, K, Sultan, T, Tajik, M, Wang, H, Yaşar, M, Zeighami, J   +26 more
core   +3 more sources

Centronuclear myopathy in a Labrador Retriever presenting for evaluation of a ‘bunny‐hopping’ gait

Veterinary Record Case Reports, Volume 13, Issue 3, September 2025.
Abstract A 3‐year‐old female neutered Labrador Retriever presented with a chronic history of ‘bunny‐hopping’ gait, presumed secondary to hip dysplasia. They exhibited moderate exercise intolerance, developing a stiff, short‐strided gait and collapsing into sternal recumbency after a brief period of exercise.
Aishling Lande, Richard Lawn, Sophie Martin   +2 more
wiley   +1 more source

First person – Suzie Buono and Arnaud Monseur

Disease Models & Mechanisms, 2022
First Person is a series of interviews with the first authors of a selection of papers published in Disease Models & Mechanisms, helping early-career researchers promote themselves alongside their papers.
doaj   +1 more source

XLIII Conferências de Genética Doutor Jacinto Magalhães: resumo das comunicações [PDF]

, 2014
Suplemento da revista Nascer & Crescer com os resumos dos Posters e Comunicações orais apresentadas durante as XLIII Conferências de Genética Doutor Jacinto Magalhães que decorreu no dia 28 de março de 2014, na cidade do Porto ...
Alvares, S.
core  

High‐throughput screening identifies bazedoxifene as a potential therapeutic for dysferlin‐deficient limb girdle muscular dystrophy

British Journal of Pharmacology, Volume 182, Issue 13, Page 2930-2949, July 2025.
Abstract Background and Purpose Limb‐girdle muscular dystrophy R2 (LGMD R2) is a rare genetic disorder characterised by progressive weakness and wasting of proximal muscles. LGMD R2 is caused by the loss of function of dysferlin, a transmembrane protein crucial for plasma membrane repair in skeletal muscles.
Celine Bruge, Nathalie Bourg, Emilie Pellier, Johana Tournois, Jerome Polentes, Manon Benabides, Noella Grossi, Anne Bigot, Anthony Brureau, Isabelle Richard, Xavier Nissan   +10 more
wiley   +1 more source

The myopathy-causing mutation DNM2-S619L leads to defective tubulation in vitro and in developing zebrafish

Disease Models & Mechanisms, 2014
DNM2 is a ubiquitously expressed GTPase that regulates multiple subcellular processes. Mutations in DNM2 are a common cause of centronuclear myopathy, a severe disorder characterized by altered skeletal muscle structure and function.
Elizabeth M. Gibbs, Ann E. Davidson, William R. Telfer, Eva L. Feldman, James J. Dowling   +4 more
doaj   +1 more source

Muscle-specific function of the centronuclear myopathy and Charcot-Marie-Tooth neuropathy-associated dynamin 2 is required for proper lipid metabolism, mitochondria, muscle fibers, neuromuscular junctions and peripheral nerves [PDF]

, 2017
The ubiquitously expressed large GTPase Dynamin 2 (DNM2) plays a critical role in the regulation of intracellular membrane trafficking through its crucial function in membrane fission, particularly in endocytosis.
Pereira, Jorge A., Suter, Ueli, Tinelli, Elisa   +2 more
core  

Insights into dynamin-associated disorders through analysis of equivalent mutations in the yeast dynamin Vps1 [PDF]

, 2016
The dynamins represent a superfamily of proteins that have been shown to function in a wide range of membrane fusion and fission events. An increasing number of mutations in the human classical dynamins, Dyn-1 and Dyn-2 has been reported, with diseases ...
Ayscough, K.R., Marklew, C.J., Moustaq, L., Palmer, S.E., Smaczynska-de Rooij, I.I.   +4 more
core   +4 more sources

Crural hypertrophy associated with centronuclear myopathy [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 1979
A case of centronuclear myopathy of adult onset with striking hypertrophy of lower limb muscles in a black South African man is described with details of the light microscopic, histochemical, and ultrastructural features. The association of hypertrophied muscles with centronuclear myopathy has not to our knowledge been reported previously and it is ...
P, Bill, G, Cole, N S, Proctor, D, Saffer, A, Botes   +4 more
openaire   +2 more sources

Brucella canis in two juvenile labrador retriever littermates with no known travel history

Veterinary Record Case Reports, Volume 13, Issue 2, June 2025.
Abstract Two labrador retriever littermates presented separately to investigate chronic lethargy and shifting lameness. In both cases, clinical examination revealed a multi‐limb lameness. Neither the patients nor their dam or sire had a travel history outside the UK.
Amy Lord, Oliver Russell, Ombeline McGregor, Robert Dudley, Cassia Hare, Barbara Skelly   +5 more
wiley   +1 more source