Results 131 to 140 of about 6,382,817 (308)
Defective axonal transport in motor neuron disease
, 2007 Several recent studies have highlighted the role of axonal transport in the pathogenesis of motor neuron diseases. Mutations in genes that control microtubule regulation and dynamics have been shown to cause motor neuron degeneration in mice and in a ...
Ali Morsi El-Kadi (16044749) +2 more
core +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw +5 more
wiley +1 more source
Peripheral Neutrophil Activation and Extracellular Trap Formation in Amyotrophic Lateral Sclerosis
Annals of Clinical and Translational Neurology, EarlyView.Markers of neutrophil activation are increased in plasma during ALS, and markers of NET formation associate with ALS survival. ABSTRACT Objectives Peripheral neutrophil levels in amyotrophic lateral sclerosis (ALS) inversely correlate with survival, suggesting a role for neutrophils in disease progression.
Lillia A. Baird +9 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To clarify the clinical relevance of dopamine transporter single‐photon emission computed tomography (DAT‐SPECT) abnormalities in amyotrophic lateral sclerosis (ALS), with a prespecified focus on sex‐stratified associations with disease progression and short‐term prognosis.
Tomoya Kawazoe +7 more
wiley +1 more source
Frontiers in NeurologyAmyotrophic lateral sclerosis (ALS) is a complex and progressive neurodegenerative disorder characterized by the degeneration of both upper and lower motor neurons. Although most ALS cases occur sporadically, without a known family history of the disease,
Paulo Sgobbi +8 more
doaj +1 more source
Decoding the causes of upper motor neuron disease: A new paper shows the impact of MND
, 2019 Loss of muscle strength is a primary feature of all motor neuron diseases. Functional loss over time, include respiratory dysfunction, loss of ability to perform daily living activities, due to decline in strength.
Dimachkie, AF
core +1 more source
Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito +8 more
wiley +1 more source
Genetic characterisation of ATXN2 in Australian amyotrophic lateral sclerosis
Brain DisordersLarge expansions of a trinucleotide repeat encoding a polyglutamine tract in ATXN2 are a known cause of spinocerebellar ataxia 2, and intermediate length expansions in this gene have been reported as a risk factor and phenotypic modifier for amyotrophic ...
Sharlynn S.L. Wu +13 more
doaj +1 more source
Walsh & Hoyt: Motor Neuron Disease (Amyotrophic Lateral Sclerosis)
, 2005 Motor neuron disease (MND), also called amyotrophic lateral sclerosis (ALS), is a progressive disease of adults resulting from variable selective and progressive degeneration of the spinal and corticospinal motor ...
Parashkev Nachev, PhD, MRCP(UK); Christopher Kennard, PhD, FRCP, FMed Sci
core
Involved topographical anatomic regions and symptom severity in motor neuron disease patients.
, 2018 Involved topographical anatomic regions and symptom severity in motor neuron disease patients.
William A. Stern (704087) +8 more
core +1 more source