Results 291 to 300 of about 182,997 (357)

DUX4 at 25: how it emerged from "junk DNA" to become the cause of facioscapulohumeral muscular dystrophy. [PDF]

Skelet Muscle
Belayew A, Rosa AL, Zammit PS.
europepmc   +1 more source

Disability, Subject‐Dependence, and the Bad‐Difference View

Bioethics, Volume 39, Issue 9, Page 802-809, November 2025.
ABSTRACT Philosophers have debated on the “mere‐difference” view of disability, according to which disability as such is neutral in terms of well‐being, just like race and gender. It is contrasted with the “bad‐difference” view, which holds that disability is bad for its possessor even in a non‐ableist situation.
Shu Ishida, Mitsuru Sasaki‐Honda, Tsutomu Sawai   +2 more
wiley   +1 more source

A Novel LAMA2 Mutation (c.7412G>A) Was Found in a Chinese Patient With Congenital Muscular Dystrophy. [PDF]

J Cell Mol Med
Zhao M, Liu Y, Fan L, Liu Z, Deng Y, Tao L.   +5 more
europepmc   +1 more source

Clinical and Molecular Heterogeneity Underlying Monogenic Causes of Pediatric Diabetes Associated to Brain Developmental Disorders

Clinical Genetics, Volume 108, Issue 5, Page 495-510, November 2025.
A growing number of genetic variants linking non‐autoimmune diabetes to NDDs across different ages offer key insights about a common background of these phenotypes. These findings call for multidisciplinary approaches to care that integrate metabolic and neurological management in affected children.
Gabriele Di Pasquale, Camilla Valsecchi, Giulia Marie Smylie, Vincenzo Salpietro, Gian Vincenzo Zuccotti, Maurizio Delvecchio, Chiara Mameli   +6 more
wiley   +1 more source

AAV microdystrophin gene replacement therapy for Duchenne muscular dystrophy: progress and prospects. [PDF]

Gene Ther
Chwalenia K, Feng VY, Hemmer N, Friedrichsen HJ, Vorobieva I, Wood MJA, Roberts TC.   +6 more
europepmc   +1 more source

Application of the Gross Motor Function Measure in children with conditions other than cerebral palsy: A systematic review

Developmental Medicine &Child Neurology, Volume 67, Issue 11, Page 1421-1442, November 2025.
This systematic review found that while the Gross Motor Function Measure (GMFM) is widely used across 208 studies involving various pediatric conditions beyond cerebral palsy, validation studies exist for only eight conditions with generally low‐quality evidence.
Hirokazu Abe, Shuhei Higashi, Nobuaki Himuro   +2 more
wiley   +1 more source

Visual Diagnosis of Facioscapulohumeral Muscular Dystrophy (FSHD). [PDF]

Dtsch Arztebl Int
Erdmann H, Abicht A, Becker K.
europepmc   +1 more source

Syndrome of the Month: Bosma Arhinia Microphthalmia Syndrome

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
Katherine J. K. Patterson, John M. Graham Jr, Natalie D. Shaw   +2 more
wiley   +1 more source

OXPHOS complex deficiency in congenital myopathy: A systematic review

European Journal of Clinical Investigation, Volume 55, Issue 11, November 2025.
This systematic review assessed oxidative phosphorylation (OXPHOS) complex dysfunction in genetically confirmed congenital myopathies (CM). Among 5841 studies screened, 23 publications, comprising 45 CM cases, met the inclusion criteria. OXPHOS dysfunction was identified in 78% of cases, particularly where enzymology was performed, with RYR1 most ...
Megan J. du Preez, Maryke Schoonen, Monray E. Williams, Michelle Bisschoff, Francois H. van der Westhuizen   +4 more
wiley   +1 more source

Influence of Dystrophin Isoform Deficiency on Motor Development in Duchenne Muscular Dystrophy. [PDF]

Ann Clin Transl Neurol
Chesshyre M, Ridout D, Stimpson G, Servais L, Baranello G, Manzur A, UK NorthStar Clinical Network, Muntoni F.   +7 more
europepmc   +1 more source