Results 21 to 30 of about 43,935 (132)
UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) binds to alpha-actinin 1: novel pathways in skeletal muscle? [PDF]
, 2008 Hereditary inclusion body myopathy (HIBM) is a rare neuromuscular disorder caused by mutations in GNE, the key enzyme in the biosynthetic pathway of sialic acid.
North Kathryn N. +31 more
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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
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A SPONTANEOUS MOUSE MODEL OF X-LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY [PDF]
, 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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Critical Illness Myopathy. [PDF]
, 2020 Critical illness myopathy (CIM) is a primary myopathy associated with increased mortality and morbidity, which frequently develops in severely ill patients.
Hatice Tankisi +3 more
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Muscle velocity recovery cycles in myopathy. [PDF]
, 2023 OBJECTIVE To understand the pathophysiology of myopathies by using muscle velocity recovery cycles (MVRC) and frequency ramp (RAMP) methodologies.
Meldgaard, M +17 more
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, 2022 Research and Practice in Thrombosis and Haemostasis, Volume 6, Issue S1, October 2022.
wiley +1 more source
Molecular Genetics &Genomic Medicine, Volume 7, Issue 8, August 2019., 2019 We report an unusual case of hypertrophic cardiomyopathy identified by combined advanced post resuscitation care and molecular autopsy in a young sudden cardiac death victim. The present study shows the relevance of implementing emergency medicine, forensic and molecular autopsy to unravel the cause of SCD cases.
Anna Gaertner‐Rommel +12 more
wiley +1 more source
Molecular Mechanisms of Neurodegeneration Related to C9orf72 Hexanucleotide Repeat Expansion
Behavioural Neurology, Volume 2019, Issue 1, 2019., 2019 Two clinically distinct diseases, amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), have recently been classified as two extremes of the FTD/ALS spectrum. The neuropathological correlate of FTD is frontotemporal lobar degeneration (FTLD), characterized by tau‐, TDP‐43‐, and FUS‐immunoreactive neuronal inclusions.
Mirjana Babić Leko +7 more
wiley +1 more source
Nonaca myopathy: description of a clinical case [PDF]
, 2021 The article presents the main clinical and diagnostic characteristics of rare distal Nonaka myopathy and considers one clinical case of a patient with this diagnosisВ статье представлены основные клинико-диагностические характеристики редкой дистальной ...
Янцева, Е. К. +5 more
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An autopsy study of a familial oculopharyngeal muscular dystrophy (OPMD) with distal spread and neurogenic involvement [PDF]
, 1981 An 81-year-old man from a family with a history of oculopharyngeal muscular dystrophy (OPMD) involving 6 members over 4 generations is described. The patient first noted drooping of his eyelids at the age of 65.
Krause, Klaus-Henning, Schmitt, H.-P.
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