Mitochondrial diabetes mellitus: real world insights from the GENOMIT registry–a multinational, longitudinal cohort study
Luisa Semmler, Boriana Büchner, Cornelia Kornblum, Marcus Deschauer et autres
0 citationsEBioMedicine
Thomas Klopstock
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1336Publications signalées
26454Citations signalées
5Affiliations récentes
Institutions déclarées
Domaines associés
Mitochondrial Function and PathologyMetabolism and Genetic DisordersGenetic Neurodegenerative DiseasesNeurological diseases and metabolismATP Synthase and ATPases Research
Publications récentes
Could NQO1 genotypes impact the results of clinical trials with idebenone?
Valério Carelli, Martina Romagnoli, Filippo Fortuna, Claudio Fiorini et autres
0 citationsBrain
A Multimodal Multiomics Machine Learning (MMM) approach for biomarker discovery and acceleration of clinical trial readiness for childhood-onset neurological disorders
Audrey Soo, Jenny Hällqvist, Kiran Seunarine, Robert Spaull et autres
0 citationsmedRxiv
Identification of Nuclear Genetic Loci Linked to Clinical Features of the m.3243A>G Mitochondrial DNA Variant
Róisín M. Boggan, Theodora-Dafni Michalettou, Yi Shiau Ng, Imogen G. Franklin et autres
0 citationsNeurology Genetics
Precision Medicine in Neurodegeneration with Brain Iron Accumulation ( NBIA ) Disorders: An Update on Emerging Treatments
Susanne A. Schneider, Divyani Garg, Vassilena Iankova, Thomas Klopstock
0 citationsMovement Disorders Clinical Practice
Patient-reported, psychosocial and health economic outcomes in mild to moderate Friedreich's ataxia: baseline results of the PROFA study
Marcus Grobe‐Einsler, Stéphanie Borel, Maresa Buchholz, Sabrina Sayah et autres
3 citationsThe Lancet Regional Health - Europe
Autorinnen und Autoren
Peter Berlit, Jörg Berrouschot, Christian Bischoff, Frank Block et autres
0 citationsElsevier eBooks
Recessive variants in mitochondrial complex I nuclear subunits are an underrated cause of optic atrophy
Claudio Fiorini, Neringa Jurkutė, Alessandra Torraco, Chiara La Morgia et autres
2 citationsBrain
The genotypic and phenotypic landscape of PDHA1 -related pyruvate dehydrogenase complex deficiency
Kajus Merkevičius, Dmitrii Smirnov, Lea D. Schlieben, Rebecca Ganetzky et autres
4 citationsBrain
Idebenone as a treatment for Leber hereditary optic neuropathy: A plain language summary of the LEROS study publication
Patrick Yu‐Wai‐Man, Nancy J. Newman, Lissa Poincenot, James Ferguson et autres
0 citationsExpert Review of Ophthalmology
Analysis of a Modified Version of the Inventory of Non‐Ataxia Signs Over 12 Years in Patients with Friedreich's Ataxia in the EFACTS Study
Imis Dogan, Paola Giunti, Michael Parkinson, Caterina Mariotti et autres
0 citationsMovement Disorders
Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early‐Onset Parkinsonism
Hormos Salimi Dafsari, Celine Deneubourg, Kritarth Singh, Reza Maroofian et autres
6 citationsAnnals of Neurology
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