Results 101 to 110 of about 10,133,821 (387)
Mutant glycyl-tRNA synthetase (Gars) ameliorates SOD1G93A motor neuron degeneration phenotype but has little affect on Loa dynein heavy chain mutant mice [PDF]
, 2009 Background: In humans, mutations in the enzyme glycyl-tRNA synthetase (GARS) cause motor and sensory axon loss in the peripheral nervous system, and clinical phenotypes ranging from Charcot-Marie-Tooth neuropathy to a severe infantile form of spinal ...
Antoni L. Andreu +8 more
core +5 more sources
Characteristics of Cerebral Palsy in the Midwestern US
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Cerebral palsy (CP) is the most common lifelong motor disability worldwide. Yet, data is limited on how CP manifests in the US. Our objective was to characterize and determine factors affecting functional outcomes in a large population of young people with CP in the Midwestern US.
Susie Kim +6 more
wiley +1 more source
Bone & Joint OpenAims: The escalating demand for medical resources to address spinal diseases as society ages is an issue that requires careful evaluation. However, few studies have examined trends in spinal surgery, especially unscheduled hospitalizations or surgeries ...
Tomoyuki Tanaka +7 more
doaj +1 more source
The Diverse Neuromuscular Spectrum of VPS13A Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective VPS13A disease (chorea‐acanthocytosis) is a rare neurodegenerative disorder caused by biallelic variants in VPS13A, typically presenting with hyperkinetic movement disorders, while neuromuscular signs are often mild. The aim of the project was to investigate the frequency and severity of neuromuscular impairment in VPS13A disease ...
Anne Buchberger +16 more
wiley +1 more source
Amyotrophic Lateral Sclerosis [PDF]
, 2019 The word amyotrophic is derived from Greek, and means “without nourishment to muscles”, lateral means to the sides and sclerosis means hardened (“What is ALS?,” n.d.).
Georgetson, Anastasia M.
core +1 more source
Localization of α-synuclein in teleost central nervous system: immunohistochemical and Western blot evidence by 3D5 monoclonal antibody in the common carp, Cyprinus carpio [PDF]
, 2015 Alpha synuclein (α-syn) is a 140 amino acid vertebrate-specific protein, highly expressed in the human nervous system and abnormally accumulated in Parkinson's disease and other neurodegenerative disorders, known as synucleinopathies.
CASINI, Arianna +6 more
core +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective The optimal treatment for neurosarcoidosis myelitis is uncertain. We characterize incident neurosarcoidosis myelitis and assess treatment response by MRI and clinical scales. Methods Incident probable or definite neurosarcoidosis myelitis in adults was retrospectively identified from 13 academic medical centers.
Giovanna S. Manzano +39 more
wiley +1 more source
Cellular bases of the RNA metabolism dysfunction in motor neurons of a murine model of spinal muscular atrophy: Role of Cajal bodies and the nucleolus [PDF]
, 2017 Spinal muscular atrophy (SMA) is caused by a homozygous deletion or mutation in the survival motor neuron 1 (SMN1) gene that leads to reduced levels of SMN protein resulting in degeneration of motor neurons (MNs).
Berciano, Maria T. +7 more
core +2 more sources
Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics
Annals 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
"INTRAOPERATIVE SPINAL STIFFNESS MEASUREMENT IN MANAGEMENT OF SPINAL CANAL STENOSIS " [PDF]
Acta Medica Iranica, 2005 In this study to determine whether spine stiffness is predictive of clinical results after lumbar spinal fusion for spinal stenosis, a total of 78 patients were measured intraoperatively with Kocher clamp manual distraction technique to determine motion ...
M. Karami +4 more
doaj +2 more sources