Almut T. Bischoff
Bonn, NW, Germany
Last Updated: 09/26/2026
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Found 10 publications
Transitional Life Events in Friedreich Ataxia: Differential Age at Onset Perspectives.
Journal: Cerebellum (London, England)
Published: March 23, 2026
A Patient-Reported Outcome Measure of Communication Difficulties in Friedreich Ataxia: COMATAX.
Journal: Cerebellum (London, England)
Published: February 08, 2026
Cerebellar cognitive-affective syndrome in Friedreich Ataxia.
Journal: Journal of neurology
Published: January 15, 2026
Patient-reported, psychosocial and health economic outcomes in mild to moderate Friedreich's ataxia: baseline results of the PROFA study.
Journal: The Lancet regional health. Europe
Published: August 06, 2025
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.
Journal: Nature communications
Published: March 31, 2025
Phase 2b program with sonlicromanol in patients with mitochondrial disease due to m.3243A>G mutation.
Journal: Brain : a journal of neurology
Published: March 06, 2024
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: September 29, 2021
Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase-Associated Neurodegeneration.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: July 18, 2020
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility.
Journal: Human mutation
Published: August 01, 2019
Showing 1-10 of 10
Last Updated: 09/26/2026