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Almut Turid Bischoff

Observed names: Almut Bischoff, Almut T. Bischoff, Bischoff, Almut
ORCID: 0009-0008-2446-1473
Observed ORCID: 0009-0008-2446-1473
OpenAlex ID: A5016210367
Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study
2021 · Kathrin Reetz, Imis Dogan, et al. · The Lancet Neurology · 98
Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase–Associated Neurodegeneration
2020 · Thomas Klopstock, Aleksandar Videnovic, et al. · Movement Disorders · 32
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De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia
2022 · Liedewei Van de Vondel, Jonathan De Winter, et al. · Movement Disorders · 27
Functional characterization of the first missense variant in CEP78 , a founder allele associated with cone‐rod dystrophy, hearing loss, and reduced male fertility
2020 · Giulia Ascari, Frank Peelman, et al. · Human Mutation · 19
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Phase 2b program with sonlicromanol in patients with mitochondrial disease due to m.3243A>G mutation
2024 · Jan Smeitink, Just van Es, et al. · Brain · 16
A Potential Citrate Shunt in Erythrocytes of PKAN Patients Caused by Mutations in Pantothenate Kinase 2
2022 · Maike Werning, Verena Dobretzberger, et al. · Biomolecules · 6
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Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia
2026 · Benita Menden, Rana D. Incebacak Eltemur, et al. · Nature Communications · 3
Patient-reported, psychosocial and health economic outcomes in mild to moderate Friedreich's ataxia: baseline results of the PROFA study
2025 · Marcus Grobe-Einsler, Stéphanie Borel, et al. · The Lancet Regional Health - Europe · 3
A Patient-Reported Outcome Measure of Communication Difficulties in Friedreich Ataxia: COMATAX.
2026 · Maresa Buchholz, Victoire Monier, et al. · The Cerebellum · 1
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Mitochondrial fatty acid synthesis is essential for coordinated energy transformation
2023 · Friederike Haumann, Ioannis Evangelakos, et al. · medRxiv · 1
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KCNA2 ‐Associated Hereditary Spastic Paraplegia: Clinical Characteristics and Rationale for Targeted Treatment
2026 · Christian M. Boßelmann, Martin Vyhnalek, et al. · Movement Disorders
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Mitochondrial diabetes mellitus: real world insights from the GENOMIT registry–a multinational, longitudinal cohort study
2026 · Luisa Semmler, Boriana Büchner, et al. · EBioMedicine
Transitional Life Events in Friedreich Ataxia: Differential Age at Onset Perspectives
2026 · Audrey Iskandar, Maresa Buchholz, et al. · The Cerebellum
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Cerebellar cognitive-affective syndrome in Friedreich Ataxia
2026 · Emilien Petit, Sabrina Sayah, et al. · Journal of Neurology
COMATAX
2026 · Maresa Buchholz, Victoire Monier, et al. · PsycTESTS Dataset
Health-Related Quality of Life in Patients with Friedreich Ataxia Using Mobility Assistive Technologies: Limited Fit of the EQ-5D-3L Mobility Dimension
2024 · Maresa Buchholz, Michelle Pfaff, et al. · Neurology and Therapy
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Works count: 17
Citation count: 207
H-index: 6
I10-index: 5
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