Results 241 to 250 of about 306,770 (339)

Diagnostic Precision in Pediatric Neuromuscular Disorders: A Case Study of Bethlem Myopathy Mimicking Duchenne Muscular Dystrophy. [PDF]

Cureus
Alyami NH, Musallam SH, Al Greshah H, Alabatahee N, Alyami T, Al Abdali A.   +5 more
europepmc   +1 more source

Reviewer #2 (Public review): Becker muscular dystrophy mice showed site-specific decay of type IIa fibers with capillary change in skeletal muscle

openalex   +1 more source

A novel MBTPS2 missense variant identifying keratosis follicularis spinulosa decalvans in a case of neonatal erythroderma

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Edwin Cuperus, Michel van Geel, Virginie JM Verhoeven, Suzanne M Koudijs, Gerharda H Boerman, Angela M Tjiam, N Margreth van der Lugt, Suzanne GMA Pasmans   +7 more
wiley   +1 more source

Narcolepsy and rapid eye movement sleep

Journal of Sleep Research, Volume 34, Issue 2, April 2025.
Summary Since the first description of narcolepsy at the end of the 19th Century, great progress has been made. The disease is nowadays distinguished as narcolepsy type 1 and type 2. In the 1960s, the discovery of rapid eye movement sleep at sleep onset led to improved understanding of core sleep‐related disease symptoms of the disease (excessive ...
Francesco Biscarini, Lucie Barateau, Fabio Pizza, Giuseppe Plazzi, Yves Dauvilliers   +4 more
wiley   +1 more source

Correction: The rise of rat models for Duchenne muscular dystrophy and therapeutic evaluations. [PDF]

Skelet Muscle
Relaix F, Lafuste P, Taglietti V, Tiret L.   +3 more
europepmc   +1 more source

Sleep Macrostructure, Cyclic Alternating Pattern and CSF Cytokines in De Novo Relapsing–Remitting Multiple Sclerosis: A Controlled Polysomnographic Study

Journal of Sleep Research, EarlyView.
ABSTRACT Multiple sclerosis is frequently associated with sleep disorders. This study aimed to evaluate subjective and objective sleep parameters in de novo relapsing–remitting multiple sclerosis patients compared to healthy controls and to explore correlations with cerebrospinal fluid cytokines.
A. Romigi, M. Stampanoni Bassi, M. Caccamo, L. Gilio, F. Ceriello, A. Finardi, G. Vitrani, I. Rosenzweig, R. Furlan, F. Buttari, D. Centonze   +10 more
wiley   +1 more source

Urinary titin represents an exciting biomarker for assessment of muscle health. [PDF]

J Muscle Res Cell Motil
Melisi N, Gage MJ.
europepmc   +1 more source

Observational study of changes to glucocorticosteroid prescribing patterns in duchenne muscular dystrophy in the UK over the last decade [PDF]

Gregory Landon, Georgia Stimpson, Michela Guglieri, Anna Sárközy, Adnan Y. Manzur, Francesco Muntoni, Giovanni Baranello   +6 more
openalex   +1 more source

‘I Do Feel Some Level of Solidarity… in an Individual Way’: Disability Solidarity, Disability Identity and the Role of Social Services

Social Policy &Administration, EarlyView.
ABSTRACT Research on social policy and solidarity often highlights disability as a paradigmatic case of a ‘deserving’ group that warrants social support. However, this hierarchical view of solidarity frequently ignores the role of solidarity in the lived experiences and everyday practices of disabled people themselves.
Roni Holler, Efrat Keidar, Sagit Mor
wiley   +1 more source

Dystrophin-Deficient Muscular Dystrophy in a Family of Shiba Inu Dogs with a Complex Deletion Encompassing <i>DMD</i> Exon 5. [PDF]

Genes (Basel)
Mcleay L, Hardinge S, Minor KM, Friedenberg SG, Cullen JN, Guo LT, Shelton GD.   +6 more
europepmc   +1 more source