Results 161 to 170 of about 1,742,640 (300)

Editorial: Neuromuscular disorders: biomarkers, precision diagnosis, and targeted therapeutics. [PDF]

Front Neurosci
Zafarullah M, Banerjee R, Singh A, Ghosh A, Almeida S.   +4 more
europepmc   +1 more source

Rethinking Delivery Timing in Prenatally Diagnosed Spinal Muscular Atrophy: A Case Report With 2‐Year Follow‐Up

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Objective We describe the clinical course and outcome of a prenatally diagnosed infant with spinal muscular atrophy (SMA) treated immediately after early‐term birth and highlight considerations regarding delivery timing and neonatal management. Methods This male infant had a family history of SMA type 1A.
Emilie Groulx‐Boivin, Olivier Fortin, Simon Thebault, Unain Ansari, Victoria Nixon, Ariane Belzile, Richard Brown, Jarred Garfinkle, Maryam Oskoui   +8 more
wiley   +1 more source

Predictors of respiratory decline in neuromuscular disorders. [PDF]

Respir Med
Basbous L, El Abiad S, Biswas DD, Woldeyohannes Y, ElMahalawy A, Abdelbarr MM, Mansour W, Hernández Rodríguez MY, Katz N, ElMallah MK.   +9 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

Orofacial dysfunction in persons with congenital or childhood-onset neuromuscular disorders. [PDF]

J Neuromuscul Dis
Bengtsson-Stelzer L, Kroksmark AK, Persson C, Tuomi L, Ekström AB.   +4 more
europepmc   +1 more source

The Neuromuscular System Is Part of Brain Health

Brain Health, EarlyView.
Wolfgang Grisold
wiley   +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

Disease-specific divergence of inflammatory and metabolic biomarkers in neurocritical neuromuscular disorders. [PDF]

Front Neurol
Kehaya S, Şensöz E.
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

Emotional and Behavioral Profiles in Neurodevelopmental and Neuromuscular Disorders: A Comparative Study Using the Child Behavior Checklist. [PDF]

Children (Basel)
Chieffo DPR, Moriconi F, Delle Donne V, Arcangeli V, Massaroni V, Marfoli A, Liberati L, Settimi G, Martelli B, Vannuccini S, Veredice C, Sani G, Mercuri EM.   +12 more
europepmc   +1 more source