Results 191 to 200 of about 450,357 (249)

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

Mining-induced disaster mechanism and stress adjustment technology of deep buried weakly cemented overburden. [PDF]

Sci Rep
Yang S, Liu X, Tan Y, Fan D, Li X, Xu H.
europepmc   +1 more source

A Systematic Clinical Framework for Postimplantation Monitoring in Thalamic Neuromodulation: Insights From Twiddler's Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This case described a 25‐year‐old pregnant woman with refractory multifocal epilepsy, diagnosed in 2020 and treated with bilateral thalamic deep brain stimulation (DBS) targeting the centromedian and pulvinar nuclei. Prior to DBS, she experienced daily focal seizures, often progressing to generalized tonic–clonic seizures despite optimal ...
Shalin Shah, Ganne Chaitanya, Jeston Chin, Nicholas Delcimmuto, Jay R. Gavvala   +4 more
wiley   +1 more source

Bridging small molecule calculations and predictable polymer mechanical properties. [PDF]

Nat Commun
Wang L, Zhang K, Hou K, Xia Y, Wang X.
europepmc   +1 more source

Paroxysmal Dyskinesias Secondary to HHV‐6A Encephalitis: The First Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Paroxysmal dyskinesias encompasses a spectrum of conditions marked by intermittent involuntary movements, with paroxysmal kinesigenic dyskinesias being the most common phenotype. Central nervous system infection is a rare cause of paroxysmal dyskinesias.
Zhuoran Wang, Haiting Li, Xiaoping Du, Qiong Wang, Yating Zhang, Huifang Wang   +5 more
wiley   +1 more source

Effects of Moisture Absorption on the Mechanical and Fatigue Properties of Natural Fiber Composites: A Review. [PDF]

Polymers (Basel)
Pavlovic A, Valzania L, Minak G.
europepmc   +1 more source

Performance of Composite Endpoints Defining Progression Independent of Relapse Activity in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The characteristics and utility of composite progression independent of relapse activity (cPIRA; worsening on the Expanded Disability Status Scale [EDSS], or 9‐Hole Peg Test, or Timed 25‐Foot Walk Test) were evaluated as an endpoint in relapsing multiple sclerosis (RMS) trials using the ENSEMBLE (NCT03085810) and pooled OPERA I/II ...
Ludwig Kappos, Sean Yiu, Jason Reucassel, Jiwon Oh, Cristina Granziera, Joep Killestein, Robert A. Bermel, Claude Berge, Agne Kazlauskaite, Hans‐Martin Schneble, Frank Dahlke, Bruce A. C. Cree   +11 more
wiley   +1 more source

Elastoplastic analysis of surrounding rock in weakly cemented soft rock roadways and its support practice. [PDF]

Sci Rep
Zhang J, Rui Q, Li X, Yang Y, Wang G, Chen J, Shen W, Wang C, Liu W.   +8 more
europepmc   +1 more source

Fixel‐Based Analysis of Diffusion Imaging as a Quantitative Marker of Disease State in Spinocerebellar Ataxia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinocerebellar ataxias (SCAs) are a group of genetically heterogeneous neurodegenerative diseases causing progressive deterioration and reduced quality of life. Therapeutic advances have been limited by a lack of sensitive anatomic, functional, or diffusion imaging‐based biomarkers.
David J. Arpin, S. H. Subramony, the READISCA Consortium, David E. Vaillancourt, Tetsuo Ashizawa, Alexandra Durr, Thomas Mareci, Thomas Klockgether, Jennifer Faber, Henry L. Paulson, Gülin Öz, Matthew R. Burns   +11 more
wiley   +1 more source

The Comparative Effectiveness and Tolerability of Sphingosine‐1‐Phosphate Receptor Modulators in Patients With Multiple Sclerosis: A Network Meta‐Analysis of Randomized Controlled Trials

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Sphingosine‐1‐phosphate receptor modulators (S1PRM) are used to treat relapsing multiple sclerosis (MS). Each drug has a different S1PR‐subtype selectivity. They target the G‐protein coupled S1P receptors and exert significant immunomodulatory effects, such as preventing the formation of new CNS lesions and the reactivation of pre ...
Faizan Shahzad, Taimoon Rasheed, Momina Riaz Siddiqui, Hamza Hamid, Marwah Bintay Khalid, Haroon Shabbir, Besher Shami, Abdullah, Syed Ijlal Ahmed   +8 more
wiley   +1 more source