Gabrielle Rudolf

Illkirch-graffenstaden, 67404, France

Last Updated: 09/26/2026

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Found 52 publications

Interneuron migration defects during corticogenesis contribute to Dyrk1a haploinsufficiency syndrome pathogenesis.

Interneuron migration defects during corticogenesis contribute to Dyrk1a haploinsufficiency syndrome pathogenesis.

Journal: Molecular psychiatry

Published: January 17, 2024

Molecular and Phenotypic Characterization of the RORB-Related Disorder.

Molecular and Phenotypic Characterization of the RORB-Related Disorder.

Journal: Neurology

Published: January 02, 2024

Highlighting the Dystonic Phenotype Related to GNAO1.

Highlighting the Dystonic Phenotype Related to GNAO1.

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

Published: March 17, 2022

De Novo Mutation in TMEM151A and Paroxysmal Kinesigenic Dyskinesia.

De Novo Mutation in TMEM151A and Paroxysmal Kinesigenic Dyskinesia.

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

Published: January 07, 2022

Biallelic RFC1-expansion in a French multicentric sporadic ataxia cohort.

Biallelic RFC1-expansion in a French multicentric sporadic ataxia cohort.

Journal: Journal of neurology

Published: November 16, 2020

Reply to "PPP2R5D Genetic Mutations and Early Onset Parkinsonism".

Reply to "PPP2R5D Genetic Mutations and Early Onset Parkinsonism".

Journal: Annals of neurology

Published: October 02, 2020

Early-Onset Parkinsonism Is a Manifestation of the PPP2R5D p.E200K Mutation.

Early-Onset Parkinsonism Is a Manifestation of the PPP2R5D p.E200K Mutation.

Journal: Annals of neurology

Published: April 16, 2020

Rare variants in the GABAA receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes.

Rare variants in the GABAA receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes.

Journal: Molecular genetics & genomic medicine

Published: February 21, 2020

Exome sequencing in 57 patients with self-limited focal epilepsies of childhood with typical or atypical presentations suggests novel candidate genes.

Exome sequencing in 57 patients with self-limited focal epilepsies of childhood with typical or atypical presentations suggests novel candidate genes.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: December 17, 2019

Increased diagnostic yield in complex dystonia through exome sequencing.

Increased diagnostic yield in complex dystonia through exome sequencing.

Journal: Parkinsonism & related disorders

Published: December 03, 2019

Expanding the clinical and EEG spectrum of CNKSR2-related encephalopathy with status epilepticus during slow sleep (ESES).

Expanding the clinical and EEG spectrum of CNKSR2-related encephalopathy with status epilepticus during slow sleep (ESES).

Journal: Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology

Published: October 24, 2019

Conditional switching of KIF2A mutation provides new insights into cortical malformation pathogeny.

Conditional switching of KIF2A mutation provides new insights into cortical malformation pathogeny.

Journal: Human molecular genetics

Published: August 12, 2019

Showing 1-12 of 52

Last Updated: 09/26/2026