Results 191 to 200 of about 4,631,769 (394)

Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco   +18 more
wiley   +1 more source

Growth Differentiation Factor 15 Elevation in the Central Nervous System Is Associated With Failure to Thrive in Alexander Disease

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Alexander disease (AxD) is a severe neurodegenerative disorder caused by gain‐of‐function mutations in the gene for GFAP, which lead to protein aggregation and a primary astrocytopathy. Symptoms vary, but failure to thrive (FTT) and frequent emesis are common and cause significant morbidity. Here we investigate GDF15, a member of the
Tracy L. Hagemann   +6 more
wiley   +1 more source

The Case of a 25‐Year‐Old Woman With Isolated Head Tremor

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study reported a 25‐year‐old woman with isolated head tremors as the main manifestation, along with type 1 diabetes, bilateral hearing loss, and leukoencephalopathy, who was diagnosed with mitochondrial disease due to a single large mtDNA deletion (m.8647‐16082del).
Ying Zhao   +5 more
wiley   +1 more source

Nationwide Survey of Atopic Myelitis and Plexin D1‐Immunoglobulin G‐Related Pain

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To elucidate the features of plexin D1‐immunoglobulin (Ig)G‐associated neuropathic pain and its relationship to atopic myelitis (AM) in a nationwide Japanese survey. Methods A preliminary survey questionnaire was sent to 1574 selected departments (neurology and pediatrics/pediatric neurology) to explore the numbers of AM and plexin ...
Jun‐ichi Kira   +10 more
wiley   +1 more source

Insights Into the Antigenic Repertoire of Unclassified Synaptic Antibodies

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We sought to characterize the sixth most common finding in our neuroimmunological laboratory practice (tissue assay‐observed unclassified neural antibodies [UNAs]), combining protein microarray and phage immunoprecipitation sequencing (PhIP‐Seq). Methods Patient specimens (258; 133 serums; 125 CSF) meeting UNA criteria were profiled;
Michael Gilligan   +22 more
wiley   +1 more source

Frailty Exacerbates Disability in Progressive Multiple Sclerosis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background To evaluate frailty in severe progressive multiple sclerosis (PMS) and to investigate the underlying mechanisms. Methods This prospective, cross‐sectional, multicenter study enrolled a late severe PMS group requiring skilled nursing (n = 53) and an age, sex, and disease duration‐matched control PMS group (n = 53).
Taylor R. Wicks   +10 more
wiley   +1 more source

Nuclear Matter Equation of State in the Brueckner–Hartree–Fock Approach and Standard Skyrme Energy Density Functionals

open access: yesUniverse
The equation of state of asymmetric nuclear matter as well as the neutron and proton effective masses and their partial-wave and spin–isospin decomposition are analyzed within the Brueckner–Hartree–Fock approach.
Isaac Vidaña   +2 more
doaj   +1 more source

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