Results 281 to 290 of about 721,077 (354)

Clinically Relevant Outcome Measures in Women With Adrenoleukodystrophy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adrenoleukodystrophy is a rare inherited peroxisomal disease caused by pathogenic variants in the ABCD1 gene located on the X chromosome. Although the most severe central nervous system and adrenal complications typically affect only men with adrenoleukodystrophy, the majority of women develop myeloneuropathy symptoms in adulthood.
Chenwei Yan   +3 more
wiley   +1 more source

Donor-Acceptor-Substituted 5-Azaazulenes. [PDF]

open access: yesJ Org Chem
Meiszter E   +4 more
europepmc   +1 more source

Remote Assessment of Ataxia Severity in SCA3 Across Multiple Centers and Time Points

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinocerebellar ataxia type 3 (SCA3) is a genetically defined ataxia. The Scale for Assessment and Rating of Ataxia (SARA) is a clinician‐reported outcome that measures ataxia severity at a single time point. In its standard application, SARA fails to capture short‐term fluctuations, limiting its sensitivity in trials.
Marcus Grobe‐Einsler   +20 more
wiley   +1 more source

New Approach for the Quantitative Assessment of Scleral Staphyloma: Discrete Curvature Measure Analysis of the Sclera. [PDF]

open access: yesTransl Vis Sci Technol
Wu D   +11 more
europepmc   +1 more source

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