Results 241 to 250 of about 713,518 (369)

Incidence and Prevalence of Congenital Myopathies ‐ A Population‐Based Study From Western Sweden

open access: yesAnnals of Neurology, EarlyView.
Objective Congenital myopathies are a group of rare genetic muscle disorders. Previous studies have estimated point prevalences which only include surviving individuals. Our aim was to perform an epidemiological study with strict inclusion criteria, using modern diagnostic technology to present both incidences and prevalences, and to describe the ...
Eva Michael   +5 more
wiley   +1 more source

Anatomical Progression of Neuropathology in FTLD‐TDP Type C and Linkage to Annexin A11

open access: yesAnnals of Neurology, EarlyView.
Objective Frontotemporal lobar degenerations (FTLD)‐TDP type C (TDP‐C) is distinguished from other FTLD‐TDP subtypes by 3 unique features: (1) invariable onset in the anterior temporal lobe (ATL), (2) phosphorylated TDP‐43 (pTDP) neurites in cortex, and (3) colocalization of all pTDP deposits with annexin A11 (ANXA11).
Allegra Kawles   +7 more
wiley   +1 more source

Pathology of Avipoxvirus in Turkey: Histopathology, Cytology and Electron Microscopy Study

open access: diamond, 2019
G.K. Sawale   +4 more
openalex   +1 more source

A Novel Transcriptional Slippage Mechanism Rescues Dystrophin Expression from a DMD Frameshift Variant

open access: yesAnnals of Neurology, EarlyView.
Pathogenic DMD variants usually follow the reading‐frame rule: out‐of‐frame changes cause Duchenne muscular dystrophy, whereas in‐frame ones produce Becker muscular dystrophy (BMD). We report a 23‐year‐old man with BMD‐like weakness, calf hypertrophy, elevated creatine kinase, and dilated cardiomyopathy.
Hiroya Naruse   +16 more
wiley   +1 more source

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