Christine Fauth

8PUBLICATIONS
98CO-AUTHORS
Neurology and neuromuscular diseasesMedical biochemistry - proteins and peptides (incl. medical proteomics)Infant and child healthAnthropological genetics
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Publications (8)

|Apr 15, 2026
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality.

|Aug 16, 2024
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality and disrupt mitochondrial function.

Francesca Magrinelli, Christelle Tesson, Plamena R Angelova

|Feb 05, 2024
Treatment of psychiatric comorbidities and interaction patterns in Coffin-Siris syndrome: A case report of a 4-year-old girl.

Ann-Christin Jahnke-Majorkovits, Christine Fauth, Manuela Gander

|Jun 15, 2018
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.

Katrina Tatton-Brown, Anna Zachariou, Chey Loveday

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Frequent Collaborators

3 joint publications

Alexis Brice

3 joint publications

Kailash P Bhatia

3 joint publications

Suzanne Lesage

3 joint publications

Andrey Y Abramov