Robin J. Palvadeau

Istanbul, 34010, Turkey

Last Updated: 09/26/2026

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Found 11 publications

Computational Short Tandem Repeat Genotyping Reveals Clinically Relevant Expansions in a Large Turkish Neurodegeneration Disease Cohort.

Computational Short Tandem Repeat Genotyping Reveals Clinically Relevant Expansions in a Large Turkish Neurodegeneration Disease Cohort.

Journal: International journal of molecular sciences

Published: March 05, 2026

Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy.

Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy.

Journal: The Journal of clinical investigation

Published: July 08, 2024

Sacsin levels in PBMCs: A diagnostic assay for SACS variants in peripheral blood cells - A PROSPAX study.

Sacsin levels in PBMCs: A diagnostic assay for SACS variants in peripheral blood cells - A PROSPAX study.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: May 17, 2024

De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.

De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: September 29, 2021

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.

Journal: JAMA neurology

Published: August 30, 2021

The genetic structure of the Turkish population reveals high levels of variation and admixture.

The genetic structure of the Turkish population reveals high levels of variation and admixture.

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

Published: August 24, 2021

VPS13D-based disease: Expansion of the clinical phenotype in two brothers and mutation diversity in the Turkish population.

VPS13D-based disease: Expansion of the clinical phenotype in two brothers and mutation diversity in the Turkish population.

Journal: Revue neurologique

Published: August 11, 2021

The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice.

The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: October 13, 2020

Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.

Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.

Journal: Brain : a journal of neurology

Published: April 27, 2020

Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database.

Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database.

Journal: Human mutation

Published: December 12, 2019

Cerebellar cognitive-affective syndrome preceding ataxia associated with complex extrapyramidal features in a Turkish SCA48 family.

Cerebellar cognitive-affective syndrome preceding ataxia associated with complex extrapyramidal features in a Turkish SCA48 family.

Journal: Neurogenetics

Published: July 04, 2019

Showing 1-11 of 11

Last Updated: 09/26/2026