Results 81 to 90 of about 4,299 (194)

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 more
wiley   +1 more source

Cardiac autonomic modulation and pulmonary capacity in individuals with amyotrophic lateral sclerosis and progressive bulbar palsy

, 2018
Introduction: Motor neuron diseases (MND), characterized by amyotrophic lateral sclerosis (ALS) and progressive bulbar palsy (PBP), is defined by progressive, irreversible and incapacitating motor paralysis with survival from two to five years after ...
Pimentel, Renata Martins [UNIFESP]
core  

Endothelial Netrin‐4 regulates oligodendrocyte precursor cell proliferation and differentiation via ET‐1 signaling in preterm white matter injury

Brain Pathology, Volume 36, Issue 4, July 2026.
Our findings show early increased Netrin‐4 in mice with PWMI boosts angiogenesis and OPCs proliferation. Later, high levels hinder OPCs differentiation into mature cells, impairing myelination. It may act by stimulating ET‐1 secretion. Abstract Perinatal hypoxia–ischemia is a leading cause of preterm white matter injury (PWMI), yet mechanisms ...
Fuxing Dong, Weixing Yan, Qiqi Meng, Xueli Song, Bing Cheng, Yaping Liu, Yanan Liu, Chao Ren, Ruiqin Yao   +8 more
wiley   +1 more source

Visible Tongue Fasciculations With Electromyographic Denervation in Autopsy‐Proven Progressive Supranuclear Palsy Mimicking Amyotrophic Lateral Sclerosis

Muscle &Nerve, EarlyView.
Hiroyasu Inoue, Yoshihiko Horimoto, Yo Tsuda, Yuta Madokoro, Shoji Kawashima, Akio Akagi, Yasushi Iwasaki, Noriyuki Matsukawa   +7 more
wiley   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1179-1191, June 2026.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Late-onset and acute presentation of Brown-Vialetto-Van Laere syndrome in a Brazilian family [PDF]

, 2018
Riboflavin transporter deficiency (formerly known as Brown-Vialetto-Van Laere [BVVL] or Fazio-Londe syndrome) is a neurodegenerative disorder characterized by progressive bulbar palsy with sensorineural deafness or bulbar hereditary neuropathy.1 It is ...
Luis Sergio Mageste, Mageste, LS, Sarah Teixeira Camargos, Jose Bras, Guerreiro, R, Rita Guerreiro, Camargos, S, Bras, J, Sarah Camargos   +8 more
core   +1 more source

Case Report: Recurrent Guillain–Barré Syndrome in a 56‐Year‐Old Male

Clinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT Recurrent Guillain–Barré syndrome (GBS) is an uncommon variant of immune‐mediated polyradiculoneuropathy. We report a 56‐year‐old male who had two distinct episodes of acute inflammatory demyelinating neuropathy within the span of 3 months. The first episode presented with an episode of ascending paralysis and areflexia, with nerve conduction ...
Farah Sadiq, Shayan Nawaz, Moeez Ahmad Saeed, Fahad Bilal, Hafiza Manahil Majeed, Wasfa Shafiq, Kashaf Imtiaz, Muhammad Husnain Ahmad, Ali Gohar   +8 more
wiley   +1 more source

Spectrum of MND registered in Peking Union Medical College Hospital (n = 143).

, 2015
ALS, amyotrophic lateral sclerosis; MND, motor neuron disease; PBP, progressive bulbar palsy; PLS, progressive lateral sclerosis; PMA, progressive muscular atrophy.
Mingsheng Liu (749595), Junfang Ma (749596), Xiaoguang Li (148206), Jia Fang (749597), Liying Cui (13927), Qingyun Ding (749598), Bo Cui (574988)   +6 more
core   +1 more source

Antibiotic‐Impregnated Calcium Sulfate Beads for Local Therapy of Severe Skull Base Osteomyelitis

Clinical Case Reports, Volume 14, Issue 6, June 2026.
Novel Local Therapy of Severe Skull Base Osteomyelitis. ABSTRACT We report on a patient with severe progressive osteomyelitis of the lateral skull base, despite targeted long‐term antibiotic therapy. Successful treatment and recovery of the facial nerve palsy were achieved through additional surgical debridement and insertion of synthetic calcium ...
Stefan Lyutenski, Aviva Henze, Paul James, Marc Bloching   +3 more
wiley   +1 more source

Carcinoma of the tongue and bulbar-onset amyotrophic lateral sclerosis: unusual differential diagnosis.

, 2007
We present a 72-year-old woman with progressive dysphagia, dysarthria and tongue palsy who was initially diagnosed with bulbar-onset amyotrophic lateral sclerosis (ALS).
VOLANTI P, MANNINO M, LA BELLA, Vincenzo, PICCOLI, Tommaso   +3 more
core   +1 more source