Results 181 to 190 of about 443,128 (313)

<i>SYNE1</i> Deficiency Manifesting Primarily With Motor Neuron Disease. [PDF]

open access: yesNeurol Genet
Senghor HVF   +13 more
europepmc   +1 more source

Developmental, Neuroanatomical and Cellular Expression of Genes Causing Dystonia

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most common movement disorders, with variants in multiple genes identified as causative. However, an understanding of which developmental stages, brain regions, and cell types are most relevant is crucial for developing relevant disease models and therapeutics.
Darren Cameron   +5 more
wiley   +1 more source

Process evaluation and exploration of telehealth in motor neuron disease in a UK specialist centre [PDF]

open access: gold, 2019
Esther Hobson   +8 more
openalex   +1 more source

ALS With and Without Upper Motor Neuron Signs: A Comparative Study Supporting the Gold Coast Criteria

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The Gold Coast criteria permit diagnosis of amyotrophic lateral sclerosis (ALS) even without upper motor neuron (UMN) signs. However, whether ALS patients with UMN signs (ALSwUMN) and those without (ALSwoUMN) share similar characteristics and prognoses remains unclear.
Hee‐Jae Jung   +7 more
wiley   +1 more source

Transcriptome-based screening in TARDBP/TDP-43 knock-in motor neurons identifies the NEDD8-activating enzyme inhibitor MLN4924

open access: gold
Sarah Lépine   +12 more
openalex   +1 more source

Cutaneous Phosphorylated Alpha‐Synuclein in Lewy Body Dementia

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To determine the test performance of cutaneous phosphorylated alpha‐synuclein (P‐SYN) in dementia with Lewy bodies (DLB), individuals with reduced Montreal Cognitive Assessment (MoCA) and healthy controls. Methods This is the first subgroup analysis of the Synuclein‐One study, a prospective, blinded study evaluating P‐SYN detection ...
Christopher H. Gibbons   +31 more
wiley   +1 more source

Modeling the phenotype of spinal muscular atrophy by the direct conversion of human fibroblasts to motor neurons

open access: diamond, 2017
Qi‐Jie Zhang   +9 more
openalex   +2 more sources

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