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List of works by Maja Hempel

A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions

scientific article published on 16 March 2020

Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation

scientific article

Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy

scientific article published on 19 January 2016

Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency.

scientific article

Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy

scientific article published on 10 December 2019

Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome

scientific article

POLR3A variants with striatal involvement and extrapyramidal movement disorder

scientific article published on 15 January 2020

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