Results 211 to 220 of about 202,258 (245)
The Real Life of Ataxia Patients Without a Vertical Family History: a Twenty-year Experience in South Brazil. [PDF]
Aschoff CAM +14 more
europepmc +1 more source
Abstract Cerebrotendinous xanthomatosis (CTX) is a treatable genetic disorder associated with deficiency of the sterol 27‐hydroxylase enzyme (CYP27A1), important in bile acid synthesis. CTX may present in the newborn period as hepatic jaundice/cholestasis, that can resolve or can progress to fatal liver disease.
Andrea E. DeBarber +3 more
wiley +1 more source
Ischemic Stroke of the Corpus Callosum Mimicking Cerebellar-Type Ataxia: A Case Report and Diagnostic Pitfall. [PDF]
El Guerouani N +4 more
europepmc +1 more source
A case report of sporadic Creutzfeldt-Jakob disease presenting with progressive opsoclonus-myoclonus-ataxia-Plus (OMAS-Plus) phenotype. [PDF]
Hulej R +5 more
europepmc +1 more source
Ataxia patient care pathway and associated healthcare costs in Italy: a cross-sectional survey. [PDF]
Vallortigara J +8 more
europepmc +1 more source
Motor Improvements Following Non-Invasive Brain Stimulation with kTMP: A Case Study of Cerebellar Stroke. [PDF]
Chirino-Pérez A +5 more
europepmc +1 more source
Proteomics in Ataxia Telangiectasia Fibroblasts Revealed Disease Hallmarks Recovered by ATM Variants. [PDF]
Ricci A +7 more
europepmc +1 more source

