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Giovanni Stevanin

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Directeur d'Etudes Cumulant (Professor)

École Pratique des Hautes Études

France

Research Interests

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About

Giovanni Stevanin is a Directeur d'Etudes Cumulant (Professor) at the École Pratique des Hautes Études in France. His research areas include cerebellar ataxia, hereditary spinocerebellar degenerations, and the genetic basis of various neurological disorders. He has published extensively on topics such as autosomal dominant MPAN, the clinical phenotyping of Sudanese families, and recommendations for next-generation sequencing data sharing in ataxias.

Recent Grants

Grant: Open

Advancing Neurogenetic Diagnoses through Long-Read Sequencing

Open Date: 2024-01-01

Close Date: 2027-01-01

Grant: Close

Improving diagnosis and therapeutics in spinocerebellar degenerations

Open Date: 2024-01-01

Close Date: 2026-01-01

Grant: Close

Expliquer la variabilité clinique chez les patients SPG11

Open Date: 2023-01-01

Close Date: 2025-01-01

Grant: Close

Comprendre l'effet des mutations du gène NPTX1 sur les fonctions des neurones

Open Date: 2023-01-01

Close Date: 2024-01-01

Grant: Close

Treatment of DRPLA

Open Date: 2019-11-01

Close Date: 2022-12-01

Articles (32)

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Collaborators (43)

Claire-Sophie Davoine

Institut du Cerveau et de la Moelle Épinière

FRANCE

Giovanni Stevanin

Research Interests

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About

Recent Grants

Articles (32)

Digenic inheritance of mutations in <i>SPG7</i> and <i>AFG3L2</i> causes motor neuron and cerebellar disorders

Functional Homology of WIPI4 and Atg18 Enables WDR45 Variant Interpretation for BPAN Diagnosis

Association of rare apolipoprotein E ε4 homozygosity with an earlier age at onset in spinocerebellar ataxia type 3

The RAB3A hot spot variant R83W causes spasticity as part of the ataxia-spasticity spectrum

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses

Loss-of-Function Variants in CPT1C: No Support for a Causal Role in Hereditary Spastic Paraplegia

Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Transcriptomic analysis reinforces the implication of spatacsin in neuroinflammation and neurodevelopment

Editorial: Translational research in hereditary spastic paraplegias: filling the diagnosis gap and therapeutic perspectives

Experience in the clinical and genetic diagnosis of a series of Algerian patients with hereditary spastic paraplegias

Globalizing newborn screening: bridging gaps in genetic diagnosis and treatment

Hereditary Spastic Paraplegia Linked to Abnormal Splicing From an <i>AIMP1</i> Missense Variant

Hereditary spastic paraplegia of type 11: towards therapeutic options

Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations

Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global Initiative

Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage

Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late-Onset Phenotypes

White matter abnormalities in 15 subjects with SPG76

De Novo and Dominantly Inherited <scp> <i>SPTAN1</i> </scp> Mutations Cause Spastic Paraplegia and Cerebellar Ataxia

Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing

Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia.

Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia.

NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia.

Implication of folate deficiency in CYP2U1 loss of function.

Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia

Current Knowledge of Endolysosomal and Autophagy Defects in Hereditary Spastic Paraplegia

Current Knowledge of Endolysosomal and Autophagy Defects in Hereditary Spastic Paraplegia

Expanding the Spectrum of AP5Z1-Related Hereditary Spastic Paraplegia (HSP-SPG48): A Multicenter Study on a Rare Disease.

Collaborators (43)

Claire-Sophie Davoine

Antonio Amorim

Carla Oliveira

Ludger Schöls

Vincent Huin

Sandrine PASSEMARD

Teresinha Evangelista

Khalid El Hachimi

Tim W. Rattay

Fabrizio Pucci

Sarah Weckhuysen

Cyril Goizet

Edwin Chan

Nicolas Dupre

Marco Savarese

Jonathan Baets

Ronald A.M. Buijsen

mark tarnopolsky

Patrick Chinnery

Carmen Espinós

Philip Van Damme

Konstantina Drosou

Zulfa Omer

Vera Frankova

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Mallory Freeberg

Janet R. Vos

Marek Turnovec

Alexandra Durr

Alexis Brice

Manuel Posada

Mridul Johari

Karen Low

Nicholas Wood

Liena Elsayed

Ashraf Yahia

Massimiliano Rossi

Siddharth Banka

Heba Morsy

Thorsten Schmidt