Results 121 to 130 of about 35,422 (230)
BMC PediatricsBackground Emery-Dreifuss muscular dystrophy is a rare muscular dystrophy characterised by muscle weakness, joint contractures, and cardiac involvement.
Sachith Mettananda +5 more
doaj +1 more source
Absence of microRNA-21 does not reduce muscular dystrophy in mouse models of LAMA2-CMD.
PLoS ONE, 2017 MicroRNAs (miRNAs) are short non-coding RNAs that modulate gene expression post-transcriptionally. Current evidence suggests that miR-21 plays a significant role in the progression of fibrosis in muscle diseases.
Bernardo Moreira Soares Oliveira +2 more
doaj +1 more source
Developmental Medicine &Child Neurology, Volume 68, Issue 2, Page 251-262, February 2026.In children potentially fulfilling the criteria for developmental coordination disorder (DCD), phenotypical assessment does not sufficiently predict the diagnostic outcome (i.e. DCD or an alternative diagnosis). Due to the lack of distinguishing clinical and diagnostic features and the high prevalence of genetic diagnoses in these patients, additional ...
Martinica Garofalo +5 more
wiley +1 more source
Developmental Medicine &Child Neurology, Volume 68, Issue 2, Page 211-217, February 2026.The development and validation of Mini‐SCALE, an assessment of lower extremity selective motor control for young children 3 months to less than 4 years, is described. Content validity was established by expert opinion, convergent validity was shown by correlation with the Gross Motor subdomain of the DAYC‐2, and scores differed significantly for ...
Loretta A. Staudt +3 more
wiley +1 more source
EAN 2024 Guideline on the Diagnostic Approach to Oligo/Asymptomatic HyperCKemia
European Journal of Neurology, Volume 33, Issue 2, February 2026.ABSTRACT Background Recent epidemiological studies on the general population reveal that up to 1.3% have oligo/asymptomatic hyperCKemia. Objective This guideline aims to provide updated, evidence‐based recommendations on investigating persons older than 18 years.
T. Kyriakides +15 more
wiley +1 more source
Neuropathology and Applied Neurobiology, Volume 52, Issue 1, February 2026.The phenotype of OBSCN variants consists of exercise intolerance ranging from myalgia and cramps to rhabdomyolysis. Symptoms are mainly induced by high‐intensity sports. Molecular analysis showing a deregulation of muscle processes associated with Ca2+ regulation, extrasarcolemmal integrity and autophagy emphasised the critical role of obscurin in ...
Heidrun H. Krämer‐Best +8 more
wiley +1 more source
Back to Basics: A Curriculum to Address the Pediatric Cardiac Anesthesia Workforce Crisis
Pediatric Anesthesia, Volume 36, Issue 2, Page 122-127, February 2026.ABSTRACT The field of pediatric cardiac anesthesia faces a critical workforce shortage. Survival of children with congenital heart disease (CHD) has improved dramatically, increasing both lifetime procedural demand and case complexity. At the same time, the supply of fellowship‐trained pediatric cardiac anesthesiologists is shrinking due to an aging ...
Lindsey Loveland, Susan C. Nicolson
wiley +1 more source
Clinical Genetics in Britain: Origins and development [PDF]
, 2010 Annotated and edited transcript of a Witness Seminar held on 23 September 2008. Introduction by Professor Sir John Bell, Uiversity of Oxford.First published by the Wellcome Trust Centre for the History of Medicine at UCL, 2010.©The Trustee of the ...
Harper, PS, Reynolds, LA, Tansey, EM
core
Congenital Muscular Dystrophy Due to Merosin Deficiency: Report of a New Mutation. [PDF]
Cureus, 2023 Herrera Malpica WS +3 more
europepmc +1 more source
Novel COL6A3 frameshift variant in American Staffordshire Terrier dogs with Ullrich-like congenital muscular dystrophy. [PDF]
J Vet Intern Med, 2023 Jankelunas L +8 more
europepmc +1 more source