Results 181 to 190 of about 2,421,984 (303)

Establishing polysomnographic criteria for initiation of non-invasive ventilation in children with neuromuscular diseases. [PDF]

J Clin Sleep Med
Dannenberg VC, Amin R, Anagnostopoulos G, Adeleye A, Bendiak GN, Kolski H, Castro-Codesal ML.   +6 more
europepmc   +1 more source

Secretopathies emerge as a new class of neurocristopathies

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira, Cassandra Millet‐Boureima, Joshua A. Moore, Loydie A. Jerome‐Majewska   +3 more
wiley   +1 more source

Publisher Correction: Genetic dissection of down syndrome‑associated alterations in APP/amyloid‑β biology using mouse models

Scientific Reports, 2021
Justin L. Tosh, Elena R. Rhymes, Paige Mumford, Heather T. Whittaker, Laura J. Pulford, Sue J. Noy, Karen Cleverley, LonDownS Consortium, Matthew C. Walker, Victor L. J. Tybulewicz, Rob C. Wykes, Elizabeth M. C. Fisher, Frances K. Wiseman   +12 more
doaj   +1 more source

Bridging science and hope: the evolving story of gene therapy for neuromuscular diseases. [PDF]

Front Cell Dev Biol
Wein N, Barthélémy F.
europepmc   +1 more source

Proteomic profiling of Elp1‐deficient trigeminal ganglia reveals disruption of neurotrophic and metabolic pathways in a familial dysautonomia mouse model

Developmental Dynamics, EarlyView.
Abstract Background Elp1, a subunit of the Elongator complex, is essential for tRNA modification and neuronal development. Mutations in ELP1 underlie familial dysautonomia (FD), a disorder marked by sensory and autonomic neuropathy. While loss of Elp1 disrupts trigeminal ganglion formation and survival, the downstream molecular consequences remain ...
Carrie E. Leonard, Lauren Clarissa Tang, Beatrix Ueberheide, Lisa A. Taneyhill   +3 more
wiley   +1 more source

Meeting report: 2025 muscular dystrophy association summit on 'safety and challenges in gene therapy of neuromuscular diseases'. [PDF]

J Neuromuscul Dis
Lin BC, Lek A, Bönnemann CG, Byrne BJ.
europepmc   +1 more source

Role of selenium in the pathophysiology of cardiorenal anaemia syndrome

ESC Heart Failure, Volume 12, Issue 2, Page 770-780, April 2025.
Abstract Chronic kidney disease (CKD) and cardiovascular disease (CVD) have multiple bidirectional mechanisms, and anaemia is one of the critical factors that are associated with the progression of the two disorders [referred to as cardiorenal anaemia syndrome (CRAS)].
Shigeyuki Arai, Minoru Yasukawa, Shigeru Shibata   +2 more
wiley   +1 more source

Sexual health in neuromuscular diseases: Neglected challenges revealed by a scoping review. [PDF]

J Neuromuscul Dis
El Kaïm A, Banos M, Decostre V, Birnbaum S, Hogrel JY, Gargiulo M.   +5 more
europepmc   +1 more source

Shared molecular pathways in pediatric genetic epilepsies: Insights from a single‐center cohort of 80 patients

Epilepsia Open, EarlyView.
Abstract Objective Genetic epilepsies in childhood are highly heterogeneous, and approaches to identify shared biological mechanisms across distinct genetic etiologies remain limited. We aimed to investigate whether genes associated with pediatric genetic epilepsies in our heterogeneous cohort converge on common functional pathways.
Laura Hecher, Mathias Woidy, Franziska Plein, Tatjana Bierhals, Leonie von Elsner, Theresia Herget, Maja Hempel, Fanny Kortüm, Lev Grinstein, Julia V. Cramer, Jessika Johannsen, Jonas Denecke   +11 more
wiley   +1 more source

Feline Neuromuscular Diseases

Journal of Feline Medicine and Surgery, 2001
openaire   +2 more sources