Results 101 to 110 of about 183,642 (350)

Sudden Death and Left Ventricular Involvement in Arrhythmogenic Cardiomyopathy [PDF]

, 2019
BACKGROUND: Arrhythmogenic cardiomyopathy (ACM) is an inherited heart muscle disorder characterized by myocardial fibrofatty replacement and an increased risk of sudden cardiac death (SCD).
Asimaki, A, Basu, J, Behr, ER, Cook, SA, Ensam, B, Finocchiaro, G, Gray, B, Malhotra, A, Miles, C, Papadakis, M, Papatheodorou, E, Parry-Williams, G, Paterson, C, Robertus, JL, Sharma, S, Sheppard, MN, Ster, IC, Tome, M, Ware, JS, Westaby, J, Witney, A   +20 more
core   +1 more source

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

Annals 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, Carola Hedberg‐Oldfors, Mar Tulinius, Sara Nordström, Anders Oldfors, Niklas Darin   +5 more
wiley   +1 more source

Signal Recognition Particle Myopathy With Cardiac Manifestations in Rheumatoid Arthritis

Annals of Internal Medicine: Clinical Cases
Immune-mediated necrotizing myopathy is a rare inflammatory myopathy characterized by progressive muscle weakness and potentially severe systemic complications.
Priya Sunkara, Deepesh Yadav, Murat Gokden, Vinisha Kota   +3 more
doaj   +1 more source

p97 Disease Mutations Modulate Nucleotide-Induced Conformation to Alter Protein-Protein Interactions. [PDF]

, 2016
The AAA+ ATPase p97/VCP adopts at least three conformations that depend on the binding of ADP and ATP and alter the orientation of the N-terminal protein-protein interaction (PPI) domain into up and down conformations.
Arkin, Michelle, Bulfer, Stacie, Chou, Tsui-Fen   +2 more
core  

Vitamin D, a modulator of musculoskeletal health in chronic kidney disease [PDF]

, 2017
The spectrum of activity of vitamin D goes beyond calcium and bone homeostasis, and growing evidence suggests that vitamin D contributes to maintain musculoskeletal health in healthy subjects as well as in patients with chronic kidney disease (CKD ...
Jordi Bover, Juan J. Carrero, null null, Pablo Molina, Pablo Ureña Torres, Philippe Chauveau, Sandro Mazzaferro   +6 more
core   +2 more sources

Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Have Distinct Prediagnostic Blood Biochemical Profiles

Annals of Neurology, EarlyView.
Objective Identifying modifiable factors influencing amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) risk is important for prevention. Blood biomarkers, particularly cholesterol, have been associated with neurodegenerative risk, but findings in ALS are inconsistent, and data on FTD are limited.
Christos V. Chalitsios, Jiali Gao, Carol A.C. Coupland, Julia Hippisley Cox, Martin R. Turner, Alexander G. Thompson   +5 more
wiley   +1 more source

Proteomics of Cytochrome c Oxidase-Negative versus -Positive Muscle Fiber Sections in Mitochondrial Myopathy [PDF]

, 2019
The mosaic distribution of cytochrome c oxidase(+) (COX+) and COX - muscle fibers in mitochondrial disorders allows the sampling of fibers with compensated and decompensated mitochondrial function from the same individual.
Doll, S., Geyer, P., Klopstock, T., Mann, M., Murgia, M., Tan, J.   +5 more
core   +3 more sources

Immune-Mediated Necrotizing Myopathy: A Review for Clinicians [PDF]

, 2022
Jong‐Mok Lee
openalex   +1 more source

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

Annals 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, Jun Mitsui, Akatsuki Kubota, So Okubo, Shuichiro Mitsuchi, Kensho Sumi, Shuichi Tanifuji, Shogo Komaki, Asuka Kitamura, Meiko Maeda, Daiki Yashita, Atsushi Sudo, Takashi Matsukawa, Masashi Hamada, Wataru Satake, Shoji Tsuji, Tatsushi Toda   +16 more
wiley   +1 more source

Coexistence of central nucleus, cores, and rods: Diagnostic relevance

Annals of Indian Academy of Neurology, 2016
Background: Congenital myopathies (CMs) though considered distinct disorders, simultaneous occurrence of central nucleus, nemaline rods, and cores in the same biopsy are scarcely reported. Objective: A retrospective reassessment of cases diagnosed as CMs
Sathiyabama Dhinakaran, Rashmi Santhosh Kumar, Ravindra Thakkar, Gayathri Narayanappa   +3 more
doaj   +1 more source