Results 241 to 250 of about 1,594,214 (312)

Mitochondrial DNA Haplogroups and Age at Onset of Spinocerebellar Ataxia Type 2: A Study in Indian Patients. [PDF]

Ann Indian Acad Neurol
Sonakar AK, Sharma C, Reza S, Pandey S, Srivastava MVP, Srivastava AK, Faruq M.   +6 more
europepmc   +1 more source

Clinical Impact of NOTCH3 Variant Location After First Stroke in CADASIL

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Despite its monogenic origin, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy exhibits marked variability in clinical expression and severity. Variants in the NOTCH3 gene, within epidermal growth factor‐like repeat domains 1–6 or 7–34, are known to influence disease onset, but their impact ...
Léa Aguilhon, Hugues Chabriat, Dominique Hervé, Stéphanie Guey, Sophie Tezenas Du Montcel, Juliette Ortholand   +5 more
wiley   +1 more source

A genome-wide association study identifies the GPM6A locus associated with age at onset in ALS. [PDF]

Commun Biol
Nakamura R, Tohnai G, Atsuta N, Matsuda Y, Morimoto S, Ito D, Katsuno M, Izumi Y, Morita M, Iwata I, Yabe I, Nakazato T, Hattori N, Hirayama T, Kano O, Tamura A, Suzuki N, Aoki M, Shibuya K, Kuwabara S, Oda M, Hashimoto R, Aiba I, Ishihara T, Onodera O, Yamashita T, Ishiura H, Bokuda K, Shimizu T, Ikeda Y, Hasegawa K, Tanaka F, Yokota T, Kanai K, Noto YI, Kaji R, Watanabe H, Konishi T, Hasegawa M, Fukaya H, Niwa JI, Doyu M, Okada Y, Nakamura S, Ozawa F, Okano H, Nakatochi M, Sobue G, Japanese Consortium for Amyotrophic Lateral Sclerosis research (JaCALS) study group.   +48 more
europepmc   +1 more source

Comprehensive Characterization of 98 Chinese Cases of Genetic Creutzfeldt‐Jakob Disease With T188K Mutation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize the demographic, clinical, and laboratory features of the Chinese patients of genetic Creutzfeldt‐Jakob disease with T188K variant (T188K‐gCJD), the most common subtype of genetic prion diseases (gPrDs) in China. Methods In this nationwide retrospective study, data from 98 genetically confirmed T188K‐gCJD patients ...
Chun‐Jie Li, Dong‐Lin Liang, Li‐Ping Gao, Wei‐Wei Zhang, Wei Zhou, A. Ruhan, Bing Xu, Run‐Dong Cao, Kang Xiao, Cao Chen, Qi Shi, Xiao‐Ping Dong   +11 more
wiley   +1 more source

Efficacy of Inebilizumab in N‐MOmentum Trial Participants With or Without Prior Immunosuppressants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This post hoc analysis examined the impact of prior immunosuppressants on the long‐term efficacy and safety of inebilizumab, a cluster of differentiation 19+ B‐cell–depleting monoclonal antibody, in participants with aquaporin‐4–seropositive neuromyelitis optica spectrum disorder from the N‐MOmentum trial (NTC02200770).
Bruce A. C. Cree, Beatrice Suero, Sarah Walsh, Romain Marignier, John W. Lindsey, Ho Jin Kim, Dewei She, Daniel Cimbora, Dustin Cavida, Friedemann Paul   +9 more
wiley   +1 more source

Evaluation of Digital Technologies for Home‐Based Assessment in People With Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Digital technologies hold promise for transforming healthcare by enhancing personalized treatments and offer valuable opportunities to improve patient care. Here, we evaluated several novel, self‐administered, home‐based, digital endpoints for their association with corresponding conventional standard clinical measures (primary) in ...
Arne Mueller, Vanessa Vallejo, Mónica Povedano Panadés, Orla Hardiman, Véronique Danel‐Brunaud, Senda Ajroud‐Driss, Philippe Couratier, Jeremy Shefner, Anna Gokey, Mike DiCesare, Erin Lennox, Jens Praestgaard, Lucie Brujin, Peggy Allred, Ram Miller   +14 more
wiley   +1 more source

The Role of Age at Onset on the Clinical Course and Biochemical Parameters of Anorexia Nervosa. [PDF]

J Pers Med
Ferrario L, Costantino A, Affaticati LM, Clerici M, Dakanalis A, Capuzzi E, Buoli M.   +6 more
europepmc   +1 more source

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

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, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang   +5 more
wiley   +1 more source

Earlier age at onset is associated with more severe sensory phenomena in drug-naive, comorbidity-free patients with obsessive-compulsive disorder. [PDF]

Front Psychiatry
Kawahito M, Murayama K, Tomiyama H, Kato K, Matsukuma K, Nishida N, Kamio T, Tsunoda K, Sashikata K, Kang M, Shuto A, Tanaka S, Nakao T.   +12 more
europepmc   +1 more source