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Quentin Thomas

Medical Doctor

Université de Bourgogne

France

Research Interests

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Professors in France Professors in Biostatistics Biostatistics professors in France

Articles (8)

Year:

2026

Year:

2026

Year:

2026

Year:

2025

Year:

2024

Year:

2023

Year:

2023

Year:

2023

Collaborators (5)

Claire-Sophie Davoine

Institut du Cerveau et de la Moelle Épinière

FRANCE

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Mariasavina Severino

IRCCS Istituto Giannina Gaslini

ITALY

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Paul Kuentz

Professeur des Universités-Praticien Hospitalier

Centre Hospitalier Universitaire Vaudois

FRANCE

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Alexis Brice

executive director

Institut du Cerveau et de la Moelle Épinière

FRANCE

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Antonio Vitobello

Full professor

Université de Bourgogne

FRANCE

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Quentin Thomas

Research Interests

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Articles (8)

Cognitive Decline, Neurologic Involvement, and Neonatal Crisis in ABCC9 -Related Intellectual Disability and Myopathy Syndrome

ATXN8OS Intermediate Expansion Acts as a Genetic Modifier in Spinocerebellar Ataxia Type 48 (SCA48/STUB1)

Mild and late onset forms of type I 3-methylglutaconic aciduria presenting as isolated cerebellar ataxia without leukodystrophy: case reports and phenotype expansion

Past, present, and future of genomic technologies in cerebellar ataxias

Allelic heterogeneity in a patient with postzygotic MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.

A rare double diagnosis identified via exome sequencing in a patient with complex cerebellar ataxia: a case report

Asymmetric crying facies in an elderly, when a facial asymmetry is not a facial paralysis but a marker of possible congenital malformations: case report and review of the literature

Expanding the Allelic Heterogeneity of ANO10 -Associated Autosomal Recessive Cerebellar Ataxia

Collaborators (5)

Claire-Sophie Davoine

Mariasavina Severino

Paul Kuentz

Alexis Brice

Antonio Vitobello

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