Giovanni Stevanin

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Directeur d'Etudes Cumulant (Professor)

École Pratique des Hautes Études

France

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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

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Treatment of DRPLA

Open Date: 2019-11-01

Close Date: 2022-12-01

Grant: Close

Normal & pathological splicing of motor neuron genes as the source of clinical variability & therapeutic options

Open Date: 2019-10-01

Close Date: 2022-09-01

Grant: Close

Solve the unsolved

Open Date: 2018-01-01

Close Date: 2023-06-01

Grant: Close

Spastic paraplegia 11

Open Date: 2017-01-01

Close Date: 2021-01-01

Grant: Close

PREPARE

Open Date: 2016-05-01

Close Date: 2019-04-01

Giovanni Stevanin

Research Interests

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Recent Grants

Articles (19)

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 (25)

Claire-Sophie Davoine

Antonio Amorim

Ludger Schöls

Vincent Huin

Sandrine PASSEMARD

Tim W. Rattay

Fabrizio Pucci

Sarah Weckhuysen

Cyril Goizet

Ronald A.M. Buijsen

Konstantina Drosou

Zulfa Omer

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Marek Turnovec

Alexandra Durr

Manuel Posada

Mridul Johari

Karen Low

Nicholas Wood

Ashraf Yahia

Massimiliano Rossi

Siddharth Banka

Yves Sznajer

Gisèle Bonne

Frederic Darios

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