Results 71 to 80 of about 17,793 (220)

Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1) [PDF]

, 2004
We previously linked Laing-type early-onset autosomal dominant distal myopathy (MPD1) to a 22-cM region of chromosome 14. One candidate gene in the region, MYH7, which is mutated in cardiomyopathy and myosin storage myopathy, codes for the myosin heavy ...
Hedera, Peter, Petty, E.M., Parry, C., de Visser, Marianne, Herrmann, Ralf, Mastaglia, Frank L., Voit, T., Bridges, Leslie, Lamont, Phillipa, van der Graaff, Maaike M., Herrmann, R., Beckman, K., Meredith, Christopher, Lamont, P., DeVisser, Marianne, Bridges, L., Fabian, V., Parry, Cheryl, Dye, D.E., Durling, Hayley J., Mastaglia, F.L., Laing, N.G., Meredith, C., Voit, Thomas, Fink, J.K., Durling, H.J., Dye, Danielle E., Laing, Nigel G., Vander Graaff, Maaike M., Fabian, Vicki, de Visser, M., van de Graaff, Maaike M., Petty, Elizabeth M., Fink, John K., Duff, R.M., Hedera, P., Beckman, Kaye, Liyanage, Khema, Duff, Rachael M., van der Graaff, M.M., Liyanage, K.   +40 more
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Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy)

, 2021
Background GNE myopathy (also called distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy) is an autosomal recessive myopathy characterised by skeletal muscle atrophy and weakness that preferentially involve the distal muscles.
조안나
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Follow-up of a pregnant patient with restrictive cardiomyopathy and neuromuscular disease – mission is possible – case report [PDF]

Българска кардиология
The follow-up of pregnant patients with cardiomyopathies is a challenge that every cardiologist will be facing sooner or later. We present the first case of a patient with restrictive cardiomyopathy and Alpha-B-crystallinopathy (distal myopathy type ...
Z. Shomanova, H. Welp, R. Schmitz, J.R. Sindermann   +3 more
doaj   +3 more sources

A case of canine urothelial carcinoma of the urinary bladder with skull and skeletal metastases

Australian Veterinary Journal, EarlyView.
Canine urinary bladder neoplasia is uncommon, representing less than 1% of canine neoplasms. Amongst cases of urinary bladder neoplasia in dogs, primary urothelial carcinoma is the most frequent. Urothelial carcinomas are malignant invasive tumours which tend to be slow growing and metastasise late.
A Teh, T Sima, E Shinozaki, R Malik
wiley   +1 more source

Multidimensional analyses of the pathomechanism caused by the non-catalytic GNE variant, c.620A>T, in patients with GNE myopathy

Scientific Reports, 2022
GNE myopathy is a distal myopathy caused by biallelic variants in GNE, which encodes a protein involved in sialic acid biosynthesis. Compound heterozygosity of the second most frequent variant among Japanese GNE myopathy patients, GNE c.620A>T encoding p.
Wakako Yoshioka, Aritoshi Iida, Kyuto Sonehara, Kazuki Yamamoto, Yasushi Oya, Madoka Mori-Yoshimura, Takashi Kurashige, Mariko Okubo, Megumu Ogawa, Fumihiko Matsuda, Koichiro Higasa, Shinichiro Hayashi, Harumasa Nakamura, Masakazu Sekijima, Yukinori Okada, Satoru Noguchi, Ichizo Nishino   +16 more
doaj   +1 more source

Slowly progressive distal muscle weakness: neuropathy or myopathy?

, 2019
Nonaka myopathy is an autosomal recessive and slowly progressive distal myopathy. It is part of a rare group of myopathies predominantly affecting the distal limb musculature. Over 150 cases have been reported across the Middle East, Japan and Europe. We
Curtis, Elizabeth, Abbas, Ahmed, Jacob, Saiju; id_orcid, Jacob, Saiju, Nahari, Yafit   +4 more
core   +1 more source

Expanding Spectrum of FIG4‐Related Neurological Disorders of Lysosomal Homeostasis: Case Report and Overview of the Potential Genotype–Phenotype Correlations

Clinical Genetics, EarlyView.
FIG4 is essential for lysosomal homeostasis. FIG4‐related disorders present as a continuous spectrum from the juvenile lethality in Yunis‐Varon syndrome to an increased risk of amyotrophic lateral sclerosis (ALS) in adult life. FIG4‐related disorders comprise a novel group of disorders of lysosomal homeostasis and can be classified into severe ...
Pankaj Prasun, Matthew Rasberry
wiley   +1 more source

Comminuted fractures of the proximal phalanx in horses: A multicentre retrospective review

Equine Veterinary Education, EarlyView.
Summary Background Comminuted fractures of the proximal phalanx (CFPP), defined as the presence of three or more major fracture fragments, present difficult management challenges. Feedback from practitioners and long‐term follow‐up can be helpful to reassess evidence‐based treatment strategies and improve clinical outcomes.
C. de Chaisemartin, M. Farfan, B. Dal Cero, A. Martens, F. Rossignol, A. Kalinovskiy, C. Lischer, C. Tessier, S. Grulke, G. Manneveau, V. Gouzer, G. Gomez, J. Samsel, C. Mespoulhes‐Riviere, F. Pichereau, L. Alfonso Gracia Calvo, M. Trécu, A. Spadaro Rossello, P. Planes, X. Peyrecave, C. Mansuy, C. Henry‐Perin, A. Guezennec, M. C. Schramme   +23 more
wiley   +1 more source

Biogenesis of TNF‐α‐insights into proteostasis and inflammation

The FEBS Journal, EarlyView.
TNF‐α biogenesis, trafficking, and signalling are tightly and reciprocally coupled to cellular proteostasis systems, including ER chaperones and endoplasmic reticulum‐associated degradation. This bidirectional crosstalk determines whether TNF‐α responses are adaptive or proteotoxic.
Bailasan Haidar, Céline Philippe, Eric Chevet, Jiří Zahradník   +3 more
wiley   +1 more source

A SPONTANEOUS MOUSE MODEL OF X-LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY

, 2011
the subject of the thesis research project, aims to characterize a murine model for spontaneous muscle pathology comparable to human "X-Linked Vacuolar myopathy with Excessive Autophagy (XMEA)".
Iovane, Valentina
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