Results 101 to 110 of about 35,422 (230)
The Application of Clinical Genetics, 2019 Quynh Nguyen,*,1 Kenji Rowel Q Lim,*,1 Toshifumi Yokota,1,21Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB, Canada; 2The Friends of Garrett Cumming Research & Muscular Dystrophy Canada,
Nguyen Q, Lim KRQ, Yokota T
doaj
Physiology of respiratory disturbances in muscular dystrophies [PDF]
, 2016 Muscular dystrophy is a group of inherited myopathies characterised by progressive skeletal muscle wasting, including of the respiratory muscles. Respiratory failure, i.e.
Aliverti, Andrea +1 more
core +2 more sources
SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights
Annals of Clinical and Translational Neurology, Volume 13, Issue 2, Page 285-295, February 2026.ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas +18 more
wiley +1 more source
Personalized Models of Biological Barriers and Their Diseases: Recent Progress with Organs‐On‐Chips
Advanced Biology, Volume 10, Issue 2, February 2026.Buck and Bugter et al. explore the architectural diversity and physiological functions of human barrier systems and reveal how organ‐on‐chip platforms, particularly those integrating patient‐derived cells, are advancing barrier disease modeling. They highlight how emerging biological and technological advances can be used to bridge the gap between ...
Franziska Buck +4 more
wiley +1 more source
Recipients of electric-powered indoor/outdoor wheelchairs provided by a National Health Service: A cross-sectional study [PDF]
, 2013 This is the post-print version of the final paper published in Archives of Physical Medicine and Rehabilitation. The published article is available from the link below.
Albright +42 more
core +1 more source
Incidence and Prevalence of Congenital Myopathies ‐ A Population‐Based Study From Western Sweden
Annals of Neurology, Volume 99, Issue 2, Page 382-392, February 2026.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
Congenital muscular dystrophy with inflammation: Diagnostic considerations
Annals of Indian Academy of Neurology, 2016 Background and Purpose: Muscle biopsy features of congenital muscular dystrophies (CMD) vary from usual dystrophic picture to normal or nonspecific myopathic picture or prominent fibrosis or striking inflammatory infiltrate, which may lead to diagnostic ...
Kaumudi Konkay +4 more
doaj +1 more source
Increasing Role of Titin Mutations in Neuromuscular Disorders [PDF]
, 2016 Peer ...
Hackman, Peter +4 more
core +2 more sources
Altered Mechanical Properties of Astrocytes Lacking MLC1: Implications for the Leukodystrophy MLC
Glia, Volume 74, Issue 2, February 2026.Mechanical properties of Mlc1‐null astrocytes are altered. Cytoskeleton‐related pathways are dysregulated in Mlc1‐null astrocytes. Mlc1‐null astrocytes show alterations in focal adhesions, which link the cytoskeleton to the extracellular matrix. ABSTRACT Loss of function of the astrocyte protein MLC1 causes Megalencephalic Leukoencephalopathy with ...
Quinty Bisseling +10 more
wiley +1 more source