Frederik Braun

Duisburg, NW, Germany

Last Updated: 09/26/2026

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Found 13 publications

Clinical, histopathological, and biomarker characterization of XLMTM and ADCNM: Operational lessons, screening and baseline data of the Unite-CNM study.

Clinical, histopathological, and biomarker characterization of XLMTM and ADCNM: Operational lessons, screening and baseline data of the Unite-CNM study.

Journal: Journal of neuromuscular diseases

Published: August 14, 2026

Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Journal: Nature genetics

Published: May 18, 2026

AFG2A-related encephalopathy, expanding the neurodevelopmental and epileptic spectrum.

AFG2A-related encephalopathy, expanding the neurodevelopmental and epileptic spectrum.

Journal: Orphanet journal of rare diseases

Published: September 19, 2025

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Journal: Nature genetics

Published: August 18, 2025

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Journal: Nature genetics

Published: August 18, 2025

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.

Journal: Research square

Published: June 21, 2024

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.

Journal: medRxiv : the preprint server for health sciences

Published: July 28, 2023

Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q.

Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q.

Journal: Open biology

Published: July 11, 2023

Neuromuscular Features in XL-MTM Carriers: A Cross-sectional Study in an Unselected Cohort.

Neuromuscular Features in XL-MTM Carriers: A Cross-sectional Study in an Unselected Cohort.

Journal: Neurology

Published: December 02, 2021

Muscular and Molecular Pathology Associated with SPATA5 Deficiency in a Child with EHLMRS.

Muscular and Molecular Pathology Associated with SPATA5 Deficiency in a Child with EHLMRS.

Journal: International journal of molecular sciences

Published: June 22, 2021

Spectrum of Clinical Features in X-Linked Myotubular Myopathy Carriers: An International Questionnaire Study.

Spectrum of Clinical Features in X-Linked Myotubular Myopathy Carriers: An International Questionnaire Study.

Journal: Neurology

Published: January 31, 2021

Diagnosing X-linked Myotubular Myopathy - A German 20-year Follow Up Experience.

Diagnosing X-linked Myotubular Myopathy - A German 20-year Follow Up Experience.

Journal: Journal of neuromuscular diseases

Published: November 09, 2020

Showing 1-12 of 13

Last Updated: 09/26/2026