Shahryar Alavi

8PUBLICATIONS
134CO-AUTHORS
Neurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)Life historiesMedical biochemistry - proteins and peptides (incl. medical proteomics)Glycoconjugates
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Publications (8)

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

|Mar 10, 2026
Epilepsy-associated FOXJ3 variants link a transcriptional program of the PTEN-mTOR pathway to neuronal specification and cortical lamination.

Haw-Yuan Cheng, Chen Liu, Chiao-Wen Nien

|Oct 07, 2025
Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism.

Hormos Salimi Dafsari, Celine Deneubourg, Kritarth Singh

|Feb 01, 2025
Integrating Prenatal Exome Sequencing and Ultrasonographic Fetal Phenotyping for Assessment of Congenital Malformations: High Molecular Diagnostic Yield and Novel Phenotypic Expansions in a Consanguineous Cohort.

Sara H El-Dessouky, Wessam E Sharaf-Eldin, Mona M Aboulghar

|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

|Aug 06, 2022
A recurrent homozygous missense DPM3 variant leads to muscle and brain disease.

Sara Nagy, Tracy Lau, Shahryar Alavi

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Frequent Collaborators

6 joint publications

Henry Houlden

4 joint publications

Reza Maroofian

3 joint publications

Suzanne Lesage

3 joint publications

Aida M Bertoli-Avella