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Publications by Franz-Josef Müller

Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood

American Journal of Human Genetics

English

An Organoid-Based Model of Cortical Development Identifies Non-Cell-Autonomous Defects in WNT Signaling Contributing to Miller-Dieker Syndrome

Molecular Biology

English

Related publications

Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy

American Journal of Human Genetics

English

Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy P415

American Journal of Human Genetics

English

Recessive Mutations in POLR3B, Encoding the Second Largest Subunit of Pol III, Cause a Rare Hypomyelinating Leukodystrophy

American Journal of Human Genetics

English

De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy

American Journal of Human Genetics

English

PKA Catalytic Subunit Mutations in Adrenocortical Cushing’s Adenoma Impair Association With the Regulatory Subunit

Nature Communications

Molecular Biology

English

Dnr1 Mutations Cause Neurodegeneration in Drosophila by Activating the Innate Immune Response in the Brain

Proceedings of the National Academy of Sciences of the United States of America

Multidisciplinary

English

Mutations in EMP2 Cause Childhood-Onset Nephrotic Syndrome

American Journal of Human Genetics

English

Mutations in ERCC4, Encoding the DNA-Repair Endonuclease XPF, Cause Fanconi Anemia

American Journal of Human Genetics

English

Somatic Mutations in Neurodegeneration

Neuropathology and Applied Neurobiology

Forensic Medicine

English