Results 61 to 70 of about 333,621 (210)
Solution structure of the inner DysF domain of myoferlin and implications for limb girdle muscular dystrophy type 2b [PDF]
, 2008 Mutations in the protein dysferlin, a member of the ferlin family, lead to limb girdle muscular dystrophy type 2B and Myoshi myopathy. The ferlins are large proteins characterised by multiple C2 domains and a single C-terminal membrane-spanning helix ...
Geddes, Stella M. +8 more
core +1 more source
Expanding the Clinico-Genetic Scope of Bethlem Myopathy: A Family of Five Patients from Kerala
Annals of Indian Academy of NeurologyBethlem myopathy (BM) represents the milder phenotype of collagen type VI-related myopathies. We report a young male with a striking family history who presented with progressive proximal myopathy, distal joint contractures, and a unique presentation of ...
Jayaram Saibaba +4 more
doaj +1 more source
Equine Veterinary Journal, EarlyView.Abstract Background FLow‐controlled EXpiration (FLEX) has been shown to significantly enhance oxygenation in horses under clinical and experimental conditions. Objectives To compare pulmonary gas exchange during early recovery following general anaesthesia in horses ventilated with FLEX compared with conventional intermittent positive pressure ...
Allison Mika +6 more
wiley +1 more source
Miopatia por corpos esferóides: relato de caso Spheroid body myopathy: case report
Arquivos de Neuro-Psiquiatria, 2005 A miopatia por corpos esferóides é doença rara, classificada no grupo das miopatias congênitas relacionadas aos distúrbios da desmina; apresenta, em geral, origem autossômica dominante e com início dos sintomas na fase adulta.
Rosana Hermínia Scola +5 more
doaj +1 more source
iMeta, EarlyView.The Human Biomarker Navigator integrates the disease continuum, biomarker dynamics, cross‐organ biomarker networks, biomarker classification, and technology‐driven paradigms. It maps how biomarkers link multi‐system physiology and pathology across the nervous, respiratory, endocrine, circulatory, immune, digestive, urinary, reproductive, and ...
Meng‐Yao Li +29 more
wiley +1 more source
Cervical Inlet Patches in R‐CPD: An Unrecognized Predictor of Treatment Failure
The Laryngoscope, EarlyView.This retrospective cohort study identified cervical inlet patches (CIP) in 19.8% of patients undergoing cricopharyngeal botulinum toxin injection for R‐CPD. CIP presence and increasing age independently predicted failure to sustain a long‐term treatment response, suggesting that CIP may be an underrecognized factor in R‐CPD treatment durability ...
Andrew Geoffrey Tritter +2 more
wiley +1 more source
BMC Musculoskeletal DisordersIntroduction GNE myopathy is a rare autosomal recessive hereditary myopathy resulting in impaired sialic acid biosynthesis. The features of this condition include distal muscle weakness with relatively preserved quadriceps femoris strength and the ...
Jinliang Deng +8 more
doaj +1 more source
Movement Disorders, EarlyView.Abstract Background NKX2‐1–related disorders (NKX2‐1‐RDs) classically present with a triad of neurological, endocrine, and pulmonary manifestations, including benign hereditary chorea. However, in a fraction of patients, NKX2‐1 coding variants are not detected, and variants outside the NKX2‐1 locus have been reported.
Robin Wijngaard +33 more
wiley +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 +4 more
core +1 more source
Chinese Journal of Contemporary Neurology and Neurosurgery, 2021 Objective To summarize the clinical phenotypes and genetic mutations of DNAJB6 related myopathies. Methods We retrospectively reviewed the clinical information, laboratory tests, muscle MRIs, electromyography results, muscle pathology examinations and ...
LI Fan +8 more
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