Results 41 to 50 of about 561,973 (252)
Crystal structures of the human Dysferlin inner DysF domain [PDF]
, 2014 Background: Mutations in dysferlin, the first protein linked with the cell membrane repair mechanism, causes a group of muscular dystrophies called dysferlinopathies.
Cole, Ambrose R. +4 more
core +1 more source
Myopathy With SQSTM1 and TIA1 Variants: Clinical and Pathological Features
Frontiers in Neurology, 2018 ObjectiveThe aim of this study is to identify the molecular defect of three unrelated individuals with late-onset predominant distal myopathy; to describe the spectrum of phenotype resulting from the contributing role of two variants in genes located on ...
Zhiyv Niu +15 more
doaj +1 more source
New Aspects of Thromboangiitis obliterans (von Winiwarter-Buerger's Disease) [PDF]
, 1984 The existence of thromboangiitis obliterans as a clinical entity has been a matter of debate for many years. In contrast to other immunovasculitides there is no organ involvement while peripheral vessels are affected.
Berlit, Peter +3 more
core +1 more source
Distal Vacuolar Myopathy in Cystinosis
Pediatric Neurology Briefs, 1994 Distal vacuolar myopathy in 13 post-renal-transplant cystinosis patients, ages 17 to 27 years, and studied at multiple centers, is reported from the National Institute of Child Health and Human Development, Bethesda, MD.
J Gordon Millichap
doaj +1 more source
カベオリン異常症における特徴的な骨格筋MRI画像所見に関する検討 [PDF]
, 2019 博士(医学) 甲第702号(主論文の要旨、要約、審査結果の要旨、本文)，著者名:Kumiko IHIGURO・Takahiro NAKAYAMA・Masaru YOSHIOKA・Terumi MURAKAMI・Sachiko KAJINO・Minobu SHICHIJI・Takatoshi SATO・Naomi HINO-FUKUYO・Satoshi KURU・Makiko OSAWA・Satoru NAGATA・Mariko OKUBO・Nobuyuki MURAKAMI・Yukiko K ...
石黒 久美子
core +2 more sources
Congenital Myasthenic Syndrome with Agrin Mutations
Pediatric Neurology Briefs, 2014 Investigators at Newcastle University, UK, and Hopitaux de Paris, France, report 5 patients from 3 unrelated families with a strikingly homogeneous clinical entity combining congenital myasthenia with distal muscle weakness and atrophy resembling a ...
J Gordon Millichap, John J Millichap
doaj +1 more source
TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics. [PDF]
, 2017 Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are age-related neurodegenerative disorders with shared genetic etiologies and overlapping clinical and pathological features. Here we studied a novel ALS/FTD family and identified the
Annu, Kavya +41 more
core +2 more sources
Immune myopathies with perimysial pathology: Clinical and laboratory features [PDF]
, 2018 ObjectiveImmune myopathies with perimysial pathology (IMPP) have a combination of damage to perimysial connective tissue and muscle fiber necrosis, more prominent near the perimysium.
Bucelli, Robert C, Pestronk, Alan
core +2 more sources
GNE myopathy: from clinics and genetics to pathology and research strategies
Orphanet Journal of Rare Diseases, 2018 GNE myopathy is an ultra-rare autosomal recessive disease, which starts as a distal muscle weakness and ultimately leads to a wheelchair bound state.
Oksana Pogoryelova +4 more
doaj +1 more source
Frontiers in Neurology, 2023 BackgroundMissense VCP gene variants lead to a disruption in protein homeostasis causing a spectrum of progressive degenerative diseases. Myopathy is the most frequent manifestation characterized by slowly progressing weakness of proximal and distal limb
Greta Asadauskaitė +3 more
doaj +1 more source