Results 131 to 140 of about 419,249 (262)

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

Parkinson's disease beyond motor symptoms: a review of the validity and limitations of current classification of non-motor symptoms. [PDF]

Front Psychiatry
Makhani A, Mestre TA, Abe AM.
europepmc   +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, Haley McQuown, Jihyun Park, Samuel J. Teener, Ian F. Webber‐Davis, Andrew D. Carter, Dae‐Gyu Jang, Eva L. Feldman, Stephen A. Goutman, Benjamin J. Murdock   +9 more
wiley   +1 more source

Glycated haemoglobin (HbA1c) levels and motor symptoms in Parkinson's disease. [PDF]

Indian J Med Res
Choudhary N, Seervi N, Bhargava A, Khichar S.   +3 more
europepmc   +1 more source

Sex‐Stratified Association of Regional Dopamine Transporter Binding With Disease Progression in Amyotrophic Lateral Sclerosis

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, Keizo Sugaya, Kentaro Hayashi, Keiko Hino, Yasuhiro Nakata, Kota Bokuda, Toshio Shimizu, Kazushi Takahashi   +7 more
wiley   +1 more source

Expert perspectives on the use of safinamide for Parkinson’s disease in Portugal: insights from a Portuguese Delphi Consensus

Journal of Comparative Effectiveness Research
Aim: Safinamide is an approved medication for managing motor fluctuations in Parkinson’s disease (PD). However, limited data exist regarding its application in clinical practice in Portugal and the perspectives of Portuguese neurologists on its use. To
Ana Margarida Rodrigues, Cristina Costa, Miguel Gago, Miguel Grunho, Leonor Correia Guedes, Ana Morgadinho, Maria Jose Rosas, Rita Simoes, Ana Graca Velon   +8 more
doaj   +1 more source

Acupuncture for Early Parkinson's Motor Symptoms: A Multicenter Randomized Controlled Trial Protocol. [PDF]

Neuropsychiatr Dis Treat
Zhang J, Xie Y, Huang W, Wu J, Feng L, Li H, Jia X, Zhang X, Tang X, Yu F, Dong Z, Cui S, Liu W, Zhu X, Guo Z, Xu N, Wang L.   +16 more
europepmc   +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, Kamal Benguerba, Ken Tsuchida, Kazushige Yazawa, Isao Tsumiyama, Hiromitsu Kayama, Sandra P. Reyna, Farid Khan, Richard S. Finkel   +8 more
wiley   +1 more source

Gender differences in non-motor symptoms in Parkinson's disease: a multicenter longitudinal study. [PDF]

Neurol Sci
Cuoco S, Russo M, Picillo M, Ricciardi C, Russillo MC, Amboni M, Arabia G, Avanzino L, Canesi M, Catania A, Ceravolo R, Cicero CE, Cilia R, Colangelo I, Dati G, De Micco R, De Rosa A, Di Fonzo A, Eleopra R, Fetoni V, Garavaglia B, Giglio A, Giuntini M, Invernizzi F, Lazzeri G, Marchese R, Nicoletti A, Pacchetti C, Panteghini C, Pilleri M, Radicati FG, Reale C, Scaglione C, Soricelli A, Stocchi F, Tessitore A, Vacca L, Volontè MA, Volpi G, Zangaglia R, Amato F, Barone P, Pellecchia MT, SIN Gender Neurology Study Group.   +43 more
europepmc   +1 more source

A Two‐Stage Questionnaire and Actigraphy Screening for iRBD in a Multicenter Retrospective Cohort

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Isolated rapid‐eye‐movement sleep behavior disorder is a prodromal marker of synucleinopathies. However, most cases remain undiagnosed due to the insufficient predictive value of questionnaires and limited access to confirmatory video‐polysomnography. We assessed a two‐stage screening strategy combining a brief questionnaire on rapid‐
Caleb A. Massimi, Giorgio Ricciardiello Mejia, Andre Metzger, Kang Hyun Ryu, Salonee Marwaha, Eva Grzegorczyk, Li Zhou, Eliana Jacobs, Boris Gilyadov, Claudia Kunney, Liqhwa Ncube, Ankit Parekh, Emmanuel Mignot, Fanny M. Elahi, Joseph Winer, Kathleen Poston, Andreas Brink‐Kjaer, Emmanuel H. During   +17 more
wiley   +1 more source