Optic neuropathy - Open Access .click

Results 151 to 160 of about 45,022 (264)

Central Nervous System Tumors in Xeroderma Pigmentosum: Five Cases and Review of the Literature

Movement Disorders, EarlyView.
Abstract Background Xeroderma pigmentosum (XP) is a rare autosomal recessive DNA‐repair disorder characterized by extreme ultraviolet radiation (UVR) sensitivity, markedly increased cutaneous malignancy risk, and progressive neurological disease in approximately one‐third of patients.
Farrah S. Bakr +4 more
wiley +1 more source

Tryptophan metabolism in glaucomatous optic neuropathy: from metabolic dysregulation to therapeutic opportunities. [PDF]

J Transl Med
Wang N, Yan T, Sun H, Guo W.
europepmc +1 more source

Frequency of ZFHX3‐Mediated Spinocerebellar Ataxia 4 in a US Undiagnosed Ataxia Cohort

Movement Disorders, EarlyView.
Abstract Background Spinocerebellar ataxia 4 (SCA4) is a late‐onset dominant ataxia with neuropathy caused by exonic GGC repeat expansion in the ZFHX3 gene thought to originate from a Swedish founder event. The GC‐rich expansion is highly thermodynamically stable, posing challenges for standard clinical genetic testing methods.
Annie Chen +320 more
wiley +1 more source

Local delivery of nerve growth factor in traumatic optic neuropathy: neuroprotective effects in a rat model. [PDF]

Front Neurol
Chen Y, Chen J.
europepmc +1 more source

AGRN‐, LRP4‐, MUSK‐Related CMS: Clinical, Neurophysiological, Morphological, Genetic and Pathological Mechanisms

Muscle &Nerve, EarlyView.
ABSTRACT Congenital myasthenic syndromes (CMS) are inherited disorders caused by mutations in genes encoding proteins essential for neuromuscular junction (NMJ) function. Pathogenic variants have been identified in more than 35 genes, underscoring the complexity of synaptic biology and the wide range of mechanisms that can compromise neuromuscular ...
Rocio‐Nur Villar‐Quiles +5 more
wiley +1 more source

Pathogenesis of Non-Arteritic Anterior Ischemic Optic Neuropathy Associated with COVID-19. [PDF]

Int J Mol Sci
Oshitari T.
europepmc +1 more source

Arts Syndrome and Involuntary Eye Movements

Movement Disorders Clinical Practice, EarlyView.
Victor Rebelo Procaci +4 more
wiley +1 more source

Presynaptic Congenital Myasthenic Syndromes

Muscle &Nerve, EarlyView.
ABSTRACT Presynaptic congenital myasthenic syndromes (CMS) encompass a large number of rare neurologic disorders caused by impaired release of acetylcholine (ACh) from motor nerve terminals. There are two main groups of presynaptic CMS: one in which the amount of ACh in synaptic vesicles (SV) is diminished and another in which the mechanism of synaptic
Ricardo A. Maselli
wiley +1 more source

Methanol Induced Optic Neuropathy: An Unusual Case With the Absence of Classic Symptoms. [PDF]

Clin Case Rep
Tariq H +6 more
europepmc +1 more source

The Flail Limb Syndrome

Muscle &Nerve, EarlyView.
ABSTRACT The flail limb syndrome is primarily a lower motor neuron disorder that initially affects proximal arm muscles (flail arm syndrome—FAS) or distal leg muscles (flail leg syndrome—FLS). Both were recognized early on (1886 for FAS and 1918 for FLS) as somewhat distinct from classic amyotrophic lateral sclerosis (ALS).
Mark B. Bromberg
wiley +1 more source

humans
optic nerve diseases
3. good health

optic nerve
male
female

optic neuritis
middle aged
ophthalmology