Results 281 to 290 of about 318,054 (345)

BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach, Nunziata Maio, Russell J. Butterfield, A. Reghan Foley, Sarah Silverstein, Yan Li, Katherine Chao, Tanya J. Lehky, Abigail Potticary, Tracey A. Rouault, Sandra Donkervoort, Carsten G. Bönnemann   +11 more
wiley   +1 more source

Saturn's moon Mimas may have a vast hidden ocean. [PDF]

Proc Natl Acad Sci U S A
Tillman NT.
europepmc   +1 more source

Continuous Monitoring of Bladder Dysfunction in People With Multiple Sclerosis: Wearables for the Bladder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Bladder dysfunction affects over 85% of people with multiple sclerosis (PwMS), yet current assessment methods are limited to periodic in‐clinic evaluations or subjective patient reports, failing to capture real‐world symptom fluctuations.
Valerie J. Block, Shane Poole, Leah McIntyre, Nikki Sisodia, Chelyn Park, Gabby Joseph, Michelle E. Van Kuiken, Anne M. Suskind, Riley Bove   +8 more
wiley   +1 more source

Clinical Characteristics of Parkinsonism in HTLV‐1‐Associated Myelopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Human T‐lymphotropic virus type 1 (HTLV‐1)‐associated myelopathy/tropical spastic paraparesis (HAM/TSP) is the classic neurological manifestation of HTLV‐1 infection; however, this virus has also been associated with other neurological disorders. Concurrent parkinsonism is relatively rare and presents diagnostic challenges.
Mika Dozono, Satoshi Nozuma, Shota Hirakata, Takashi Yoshida, Daisuke Kodama, Masakazu Tanaka, Eiji Matsuura, Ryuji Kubota, Hiroshi Takashima   +8 more
wiley   +1 more source

Coronal dimmings and what they tell us about solar and stellar coronal mass ejections. [PDF]

Living Rev Sol Phys
Veronig AM, Dissauer K, Kliem B, Downs C, Hudson HS, Jin M, Osten R, Podladchikova T, Prasad A, Qiu J, Thompson B, Tian H, Vourlidas A.   +12 more
europepmc   +1 more source

A Novel C19orf47‐AKT2 Chimeric RNA Generated by Cis‐Splicing of Adjacent Genes Is Associated With Glioblastoma Prognosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Malignant gliomas pose significant therapeutic challenges. This study aimed to identify and characterize a novel chimeric RNA in glioma and assess its clinical and functional significance for precision treatment. Methods The C19orf47‐AKT2 chimeric RNAs were identified through RNA sequencing and validated by polymerase chain reaction.
Zihan Wang, Bowen Ni, Kezhi Wu, Qi Zhang, Jinglin Guo, Runwei Yang, Ziyu Wang, Guozhong Yi, Guanglong Huang, Minyi He, Yimin Xu, Yawei Liu   +11 more
wiley   +1 more source

Abundant water from primordial supernovae at cosmic dawn. [PDF]

Nat Astron
Whalen DJ, Latif MA, Jessop C.
europepmc   +1 more source

High‐Efficacy Treatment in Neuromyelitis Optica Specturm Disorder Patients With Seropositive AQP4 Antibodies—A Real‐World Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To compare the effectiveness of high‐efficacy treatments (HET) and low‐efficacy treatments (LET) in NMOSD patients with anti‐aquaporin‐4 antibodies (AQP4‐ab). Methods In this multi‐center study, we analyzed 183 AQP4‐ab seropositive NMOSD patients who received immunosuppressive treatments (IST).
Xiang Li, Binbin Xue, Jia Li, Dewei Xie, Juyuan Pan, Lanbing Zhu, Qiaowen Tong, Jing Lin, Xu Zhang, Junhui Xia, Jie Lin   +10 more
wiley   +1 more source

Thermodynamics-inspired high-entropy oxide synthesis. [PDF]

Nat Commun
Almishal SSI, Furst M, Tan Y, Sivak JT, Bejger G, Petruska J, Ayyagari SVG, Srikanth D, Alem N, Rost CM, Sinnott SB, Chen LQ, Maria JP.   +12 more
europepmc   +1 more source

Identification of Dementia With Lewy Bodies by Skin Biopsy in Recent‐Onset Cognitive Impairment

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Immunofluorescence for phosphorylated alpha‐synuclein in skin biopsy samples is an emerging biomarker in synucleinopathies comprising Dementia with Lewy bodies. In this pilot study, 19 patients with recent‐onset (≤ 18 months) cognitive impairment underwent skin biopsy at baseline, with follow‐up clinical re‐evaluation.
Alessandro Furia, Alex Incensi, Cecilia Delprete, Giovanni Rizzo, Salvatore Bonvegna, Marco Piatti, Enrica Olivola, Francesco Ventruto, Veria Vacchiano, Enrico Fileccia, Roberto Cilia, Nicola Modugno, Rocco Liguori, Vincenzo Donadio   +13 more
wiley   +1 more source