Publications by authors named "Felix Distelmaier"

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CRISPR/Cas9-mediated editing of MIC13 in human induced pluripotent stem cells: A model for mitochondrial hepato-encephalopathy.
Haribaskar Ramachandran, Alexander Becker, Jochen Dobner, Barbara Hildebrandt, Felix Distelmaier

Stem Cell Res· December 2025

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Combined ketone body and glutamine supplementation restores aerobic energy production in AGC1-deficient neuronal progenitors.
Simona Nicole Barile, Maria Chiara Magnifico, Eleonora Poeta, Felix Distelmaier, Luigi Viggiano

Cell Death Dis· December 2025

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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, Zita Suprenant, Felix Distelmaier

Ann Neurol· November 2025

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The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.
Kajus Merkevicius, Dmitrii Smirnov, Lea D Schlieben, Rebecca Ganetzky, René G Feichtinger, Felix Distelmaier

Brain· November 2025

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CRISPR/Cas9-mediated editing of COQ4 in induced pluripotent stem cells: A model for investigating COQ4-associated human coenzyme Q deficiency.
Sonja Herbrich, Haribaskar Ramachandran, Annette Seibt, Isabella Tolle, Annika Zink, Felix Distelmaier

Stem Cell Res· October 2025

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Preclinical and first-in-human evidence of 4-hydroxybenzoic acid for mitochondrial COQ2 deficiency.
Felix Distelmaier, Julia Corral-Sarasa, Laura Jiménez-Sánchez, María Elena Díaz-Casado, Melanie Rohmann

Brain· September 2025

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Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Michael Zech, Ivana Dzinovic, Matej Skorvanek, Philip Harrer, Jan Necpal, Felix Distelmaier

Brain· August 2025

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Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy.
Maureen Jacob, Heike Kölbel, Philip Harrer, Robert Kopajtich, Pinki Munot, Felix Distelmaier

Brain· June 2025

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Natural History of Patients With Mitochondrial ATPase Deficiency Due to Pathogenic Variants of MT-ATP6 and MT-ATP8.
Sara Carli, Anna Levarlet, Daria Diodato, Enrico Silvio Bertini, Diego Martinelli, Felix Distelmaier

Neurology· April 2025

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Pleiotropic effects of MORC2 derive from its epigenetic signature.
Fatemeh Peymani, Tomohiro Ebihara, Dmitrii Smirnov, Robert Kopajtich, Masahiro Ando, Felix Distelmaier

Brain· April 2025

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Epg5 links proteotoxic stress due to defective autophagic clearance and epileptogenesis in and Vici syndrome patients.
Celine Deneubourg, Hormos Salimi Dafsari, Simon Lowe, Aitana Martinez-Cotrina, David Mazaud, Felix Distelmaier

Autophagy· February 2025

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Multi-omics-based phenotyping of AFG3L2-mutant lymphoblasts determines key factors of a pathophysiological interplay between mitochondrial vulnerability and neurodegeneration in spastic ataxia type 5.
Menekse Oeztuerk, Diran Herebian, Kale Dipali, Andreas Hentschel, Nina Rademacher, Felix Distelmaier

Front Mol Neurosci· February 2025

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ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations.
Lucia Laugwitz, Fubo Cheng, Stephan C Collins, Alexander Hustinx, Nicolas Navarro, Felix Distelmaier

Brain· July 2024

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Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemia.
Felix Distelmaier, Abdullah Sezer, Christina Helm, Stephan Waldmüller, Annette Seibt

Brain· July 2024

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Riboflavin transporter deficiency in young adults unmasked by dietary changes.
Bregje Jaeger, Mirjam Langeveld, Robert Brunkhorst, Felix Distelmaier, Ana Pop

JIMD Rep· July 2024

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mtDNA analysis using Mitopore.
Jochen Dobner, Thach Nguyen, Mario Gustavo Pavez-Giani, Lukas Cyganek, Felix Distelmaier

Mol Ther Methods Clin Dev· June 2024

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Genetic landscape of pediatric acute liver failure of indeterminate origin.
Dominic Lenz, Lea D Schlieben, Masaru Shimura, Alyssa Bianzano, Dmitrii Smirnov, Felix Distelmaier

Hepatology· May 2024

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Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease.
Nicole Hammann, Dominic Lenz, Ivo Baric, Ellen Crushell, Carlo Dionisi Vici, Felix Distelmaier

Mol Genet Metab· March 2024

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Classical homocystinuria presenting with transient basal ganglia pathology and dystonia.
Luisa Averdunk, Eva Thimm, Dirk Klee, Tobias B Haack, Felix Distelmaier

J Inherit Metab Dis· November 2023

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Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence.
Luisa Averdunk, Maxim A Huetzen, Daniel Moreno-Andrés, Reinhard Kalb, Shane McKee, Felix Distelmaier

Genet Med· July 2023

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De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood.
Margot R F Reijnders, Annette Seibt, Melanie Brugger, Ideke J C Lamers, Torsten Ott, Felix Distelmaier

Genet Med· July 2023

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Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Georg F Vogel, Yael Mozer-Glassberg, Yuval E Landau, Lea D Schlieben, Holger Prokisch, Felix Distelmaier

Genet Med· June 2023

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Neuroimaging in Primary Coenzyme-Q-Deficiency Disorders.
Juliane Münch, Jannik Prasuhn, Lucia Laugwitz, Cheuk-Wing Fung, Brian H-Y Chung, Felix Distelmaier

Antioxidants (Basel)· March 2023

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Neuroimaging in mitochondrial disease.
Felix Distelmaier, Thomas Klopstock

Handb Clin Neurol· February 2023

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Generation of an induced pluripotent stem cell line (IUFi002-A) from a Leigh syndrome patient carrying mutations in the NDUFS1 gene.
Onofrio Valente, Jochen Dobner, Haribaskar Ramachandran, Barbara Hildebrandt, Felix Distelmaier

Stem Cell Res· December 2022

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