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Author Details

Giovanni Stevanin
Sorbonne University, Paris Brain Institute - ICM, Inserm, CNRS
1992
268
69
Trey Ideker (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
37012327Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations.Eur J Hum Genet2023
37957369Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage.Hum Genet2023
37578488White matter abnormalities in 15 subjects with SPG76.J Neurol2023
37605305Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late-Onset Phenotypes.Mov Disord2023
34788392NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia.Brain2022
35411967Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25.Ann Neurol2022
35605667CNS-associated T-lymphocytes in a mouse model of Hereditary Spastic Paraplegia type 11 (SPG11) are therapeutic targets for established immunomodulators.Exp Neurol2022
36056923The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4.Genet Med2022
34983064Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia.Brain2022
35150594De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.Mov Disord2022
35118659Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing.Ann Hum Genet2022
33107650Pseudoxanthoma elasticum overlaps hereditary spastic paraplegia type 56.J Intern Med2021
33602173A heterozygous mutation in the CCDC88C gene likely causes early-onset pure hereditary spastic paraplegia: a case report.BMC Neurol2021
33543803Expanding the Spectrum of AP5Z1-Related Hereditary Spastic Paraplegia (HSP-SPG48): A Multicenter Study on a Rare Disease.Mov Disord2021
33486633Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations.Neurogenetics2021
33889951Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia.Brain2021
33833777The History of Gene Hunting in Hereditary Spinocerebellar Degeneration: Lessons From the Past and Future Perspectives.Front Genet2021
34901147Insights into Clinical, Genetic, and Pathological Aspects of Hereditary Spastic Paraplegias: A Comprehensive Overview.Front Mol Biosci2021
34489854Pathogenic Variants in <i>ABHD16A</i> Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia.Front Neurol2021
34546337Implication of folate deficiency in CYP2U1 loss of function.J Exp Med2021
33958741Evidence of mosaicism in SPAST variant carriers in four French families.Eur J Hum Genet2021
34239414Editorial: Hereditary Spastic Paraplegias: At the Crossroads of Molecular Pathways and Clinical Options.Front Neurosci2021
34359848Current Knowledge of Endolysosomal and Autophagy Defects in Hereditary Spastic Paraplegia.Cells2021
34111303An identical-by-descent novel splice-donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families.Ann Hum Genet2021
33165979RNF170-Related Hereditary Spastic Paraplegia: Confirmation by a Novel Mutation.Mov Disord2021
32145221Impairment of Lysosome Function and Autophagy in Rare Neurodegenerative Diseases.J Mol Biol2020
33193012Novel Homozygous Missense Mutation in the <i>ARG1</i> Gene in a Large Sudanese Family.Front Neurol2020
32180696Lipids in the Physiopathology of Hereditary Spastic Paraplegias.Front Neurosci2020
30820684Update on the Genetics of Spastic Paraplegias.Curr Neurol Neurosci Rep2019
32042907Spastic paraplegia due to recessive or dominant mutations in <i>ERLIN2</i> can convert to ALS.Neurol Genet2019
31068484Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with <i>SPG7</i>.Neurology2019
31037979Hereditary spastic paraplegias: time for an objective case definition and a new nosology for neurogenetic disorders to facilitate biomarker/therapeutic studies.Expert Rev Neurother2019
29353221An in-frame deletion in BICD2 associated with a non-progressive form of SMALED.Clin Neurol Neurosurg2018
29989150LRRK2 G2019S Parkinson's disease with more benign phenotype than idiopathic.Acta Neurol Scand2018
30067756Progressive ataxia of Charolais cattle highlights a role of KIF1C in sustainable myelination.PLoS Genet2018
29848387Interrupted CAG expansions in ATXN2 gene expand the genetic spectrum of frontotemporal dementias.Acta Neuropathol Commun2018
29847346Hereditary ataxias and paraparesias: clinical and genetic update.Curr Opin Neurol2018
29949766Inhibition of Lysosome Membrane Recycling Causes Accumulation of Gangliosides that Contribute to Neurodegeneration.Cell Rep2018
30352563Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate elevation: a case report.BMC Neurol2018
30476002Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex.Brain2018
29577077<i>ACO2</i> homozygous missense mutation associated with complicated hereditary spastic paraplegia.Neurol Genet2018
29444217Reply: Updated frequency analysis of spinocerebellar ataxia in China.Brain2018
29379881Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function.Neurol Genet2018
29462666Spinocerebellar Ataxia Tethering PCR: A Rapid Genetic Test for the Diagnosis of Spinocerebellar Ataxia Types 1, 2, 3, 6, and 7 by PCR and Capillary Electrophoresis.J Mol Diagn2018
29739362Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family.BMC Med Genet2018
29482223Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes.JAMA Neurol2018
29481671Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia.Brain2018
29034544CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56.Hum Mutat2018
29228183Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5.Brain2018
28007911Mitochondrial morphology and cellular distribution are altered in SPG31 patients and are linked to DRP1 hyperphosphorylation.Hum Mol Genet2017
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Collaborators

Alexis Brice
Sorbonne University, Paris Brain Institute - ICM, Inserm, CNRS
Co-authored papers 199
Alexandra Durr
Sorbonne University, Paris Brain Institute - ICM, Inserm, CNRS
Co-authored papers 170
Sylvie Forlani
ICM DNA and Cell Bank CNRS UMR7225, INSERM U1127, Sorbonne University
Co-authored papers 34
Ali Benomar
Medical School and Pharmacy, University Mohammed V in Rabat
Co-authored papers 21
Naima Bouslam
Specialties Hospital
Co-authored papers 17
Stephan Z??chner
Hussman Institute for Human Genomics, University of Miami
Co-authored papers 12
Guy A Rouleau
McGill University, Canada Montreal Neurological Institute and Hospital
Co-authored papers 11
Bertrand Fontaine
Co-authored papers 11
Sylvain Hanein
Institute of Genetic Diseases, INSERM UMR1163, Imagine and Paris Descartes University
Co-authored papers 7
Nicholas W Wood
UCL Queen Square Institute of Neurology
Co-authored papers 7
Andrew B Singleton
National Institute on Aging
Co-authored papers 6
Michael A Gonzalez
The Genesis Project Foundation
Co-authored papers 6
Laure Raymond
Sorbonne Universite, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS
Co-authored papers 6
Ahmed Bouhouche
Medical School and Pharmacy, University Mohammed V in Rabat
Co-authored papers 6
Jean Weissenbach
Institut Francois Jacob, CNRS, Universite Paris-Saclay
Co-authored papers 5
Henry Houlden
Institute of Neurology, University College London (UCL)
Co-authored papers 5
Martin Schalling
Karolinska Institutet.
Co-authored papers 5
Howard M Cann
Co-authored papers 4
Joseph G Gleeson
University of California
Co-authored papers 3
Kerstin Lindblad-Toh
Uppsala University
Co-authored papers 3
Tetsuo Ashizawa
Houston Methodist Research Institute
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Massimo Pandolfo
Universite Libre de Bruxelles (ULB)
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Enrico Bertini
IRCCS Bambino Gesu Children's Research Hospital
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Release 1.2