Results 181 to 190 of about 1,467,078 (263)

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

Research progress of short stature and advanced bone age, early-onset osteoarthritis and osteochondritis dissecans (SSOAOD) caused by acan gene mutation. [PDF]

Front Endocrinol (Lausanne)
Chen Y, Wu S, Gu W.
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

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

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

Early Recognition of Treatment‐Responsive Rapidly Progressive Dementia: The Modified STAM3mP Score

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Early identification of patients with treatment‐responsive rapidly progressive dementia (RPD) is important as early treatment improves outcomes. The STAM3P score identifies treatment‐responsive RPD using “high risk” presenting features. We optimized performance by adding a time component (i.e., dementia within 3 months) and validated the ...
R. W. van Steenhoven, N. Satyadev, A. E. M. Bastiaansen, Y. D. Piura, J. Kerstens, Y. S. Crijnen, J. Brenner, T. Brand, T. M. Bienfait, S. Veenbergen, J. M. de Vries, F. J. de Jong, E. G. P. Dopper, P. A. E. Sillevis Smitt, H. Seelaar, G. S. Day, M. J. Titulaer   +16 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

Plasma EV Proteomics Identifies ECM Remodeling and Inflammatory Proteins LUM and C7 as Candidate Biomarkers in FSHD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit, Chiranth K. Nagaraj, Jackson S. Newell, Kim Truc Nguyen, Xilal Y. Rima, Jacob Doon‐Ralls, Eduardo Reátegui, Jeffrey M. Statland, Rabi Tawil, Kevin M. Flanigan, Scott Q. Harper, Nizar Y. Saad   +11 more
wiley   +1 more source

Age of Onset of first depressive episode requiring hospitalisation, Clinical Characteristics, and Response to Electroconvulsive Therapy

European Psychiatry
Tor Arnison, Natalie Nordin, Axel Nordenskjöld   +2 more
doaj   +1 more source