Results 191 to 200 of about 159,027 (267)

Frequency of ZFHX3‐Mediated Spinocerebellar Ataxia 4 in a US Undiagnosed Ataxia Cohort

open access: yesMovement Disorders, EarlyView.
Abstract Background Spinocerebellar ataxia 4 (SCA4) is a late‐onset dominant ataxia with neuropathy caused by exonic GGC repeat expansion in the ZFHX3 gene thought to originate from a Swedish founder event. The GC‐rich expansion is highly thermodynamically stable, posing challenges for standard clinical genetic testing methods.
Annie Chen   +320 more
wiley   +1 more source

A case report of arsenic-induced peripheral neuropathy misdiagnosed as Guillain-Barré syndrome. [PDF]

open access: yesFront Toxicol
Fu S   +11 more
europepmc   +1 more source

A Hybrid Rule‐Based and Large Language Model Artificial Intelligence System for Electrodiagnostic Reporting: Two‐Center Retrospective Evaluation

open access: yesMuscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Electrodiagnostic (EDX) studies comprise nerve conduction studies (NCS) and needle electromyography (EMG). However, EDX reporting is heterogeneous across laboratories and often requires time‐consuming documentation. We aimed to evaluate a hybrid rule‐based and constrained large language model (LLM) system that drafts EDX ...
Yesung Jung   +3 more
wiley   +1 more source

Early Cervical and Orofacial Variable Dystonia in Levodopa‐Naïve PRKN Parkinson's Disease

open access: yes
Movement Disorders Clinical Practice, EarlyView.
Amy Gallagher   +6 more
wiley   +1 more source

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