Results 201 to 210 of about 6,098,114 (358)

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

open access: yesAnnals 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   +11 more
wiley   +1 more source

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

open access: yesAnnals 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   +11 more
wiley   +1 more source

Cervical Spinal Cord Magnetization Transfer Ratio and Its Relationship With Clinical Outcomes in Multiple Sclerosis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The cervical spinal cord (cSC) is highly relevant to clinical dysfunction in multiple sclerosis (MS) but remains understudied using quantitative magnetic resonance imaging (MRI). We assessed magnetization transfer ratio (MTR), a semi‐quantitative MRI measure sensitive to MS‐related tissue microstructural changes, in the cSC and its ...
Lisa Eunyoung Lee   +26 more
wiley   +1 more source

Glial Fibrillary Acidic Protein Astrocytopathy Based on a Two‐Center Chinese Cohort Study

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Glial fibrillary acidic protein astrocytopathy (GFAP‐A) is a recently defined nosological form belonging to the class of autoimmune inflammatory disorders affecting the central nervous system (CNS). Here, we report the clinical and MRI characteristics, treatment, and prognosis of a GFAP‐A cohort from two centers in China.
Ti Wu   +13 more
wiley   +1 more source

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