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4PUBLICATIONS
90CO-AUTHORS
Neurology and neuromuscular diseasesMedical biochemistry - proteins and peptides (incl. medical proteomics)
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Journal

Publications (4)

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

|Nov 28, 2024
Lamotrigine as a preventive agent against recurrent catatonia in adult-onset Niemann-Pick Type-C disease: a case report.

Ali Tarık Altunç, İrem Yıldırım, Alperen Kılıç

|Nov 10, 2024
C19orf12 gene mutation with neuropsychiatric symptoms: a case report.

İrem Yıldırım, Ali Tarık Altunç, Ege Gür

|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

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Frequent Collaborators

3 joint publications

Aida M Bertoli-Avella

3 joint publications

Ayşe Nazlı Başak

3 joint publications

Henry Houlden

3 joint publications

Alexis Brice