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G. Stevanin · SciRah

Researcher profile · Semantic Scholar

G. Stevanin

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G. Stevanin — researcher profile on SciRah

h-index: 82
Works: 319
Citations: 21K

Most-cited papers

DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases
C. Bettencourt, D. Hensman Moss, M. Flower, S. Wiethoff +20 more
2016Annals of Neurology223 citations Open access
Semantic Scholar
Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes
Marie Coutelier, M. Hammer, G. Stevanin, M. Monin +31 more
2018JAMA Neurology124 citations Open access
Semantic Scholar
ATXN2 trinucleotide repeat length correlates with risk of ALS
W. Sproviero, A. Shatunov, D. Ståhl, M. Shoai +43 more
2017Neurobiology of Aging118 citations Open access
Semantic Scholar
A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies
Marie Coutelier, Giulia Coarelli, M. Monin, J. Konop +23 more
2017Brain : a journal of neurology105 citations Open access
Semantic Scholar
Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex
L. Parodi, S. Fenu, M. Barbier, G. Banneau +42 more
2018Brain : a journal of neurology102 citations Open access
Semantic Scholar
Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degeneration
J. Branchu, Maxime Boutry, L. Sourd, Marine Depp +12 more
2017Neurobiology of Disease102 citations Open access
Semantic Scholar
Update on the Genetics of Spastic Paraplegias
Maxime Boutry, S. Morais, G. Stevanin
2019Current Neurology and Neuroscience Reports100 citations
Semantic Scholar
Defects in the CAPN1 gene result in alterations in cerebellar development and in cerebellar ataxia in mice and humans
Yubin Wang, J. Hersheson, Dulce Lopez, M. Hammer +18 more
2016Cell Reports96 citations Open access
Semantic Scholar
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.
Marie Coutelier, C. Goizet, A. Durr, F. Habarou +30 more
2015Brain : a journal of neurology90 citations Open access
Semantic Scholar
Hereditary spastic paraplegia: More than an upper motor neuron disease.
L. Parodi, S. Fenu, G. Stevanin, A. Durr
2017Revue neurologique (Paris)89 citations
Semantic Scholar
Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease
Jennifer Hirst, J. Edgar, Typhaine Esteves, F. Darios +13 more
2015Human Molecular Genetics88 citations Open access
Semantic Scholar
Hereditary ataxias and paraparesias: clinical and genetic update
L. Parodi, Giulia Coarelli, G. Stevanin, A. Brice +1 more
2018Current Opinion in Neurology82 citations
Semantic Scholar
A Novel Nonsense Mutation in DNAJC6 Expands the Phenotype of Autosomal‐Recessive Juvenile‐Onset Parkinson's Disease
Liena E. O. Elsayed, Valérie Drouet, T. Usenko, Inaam N. Mohammed +13 more
2016Annals of Neurology73 citations
Semantic Scholar
Impairment of Lysosome Function and Autophagy in Rare Neurodegenerative Diseases
F. Darios, G. Stevanin
2020Journal of Molecular Biology72 citations Open access
Semantic Scholar
Insights into Clinical, Genetic, and Pathological Aspects of Hereditary Spastic Paraplegias: A Comprehensive Overview
Liena E. O. Elsayed, I. Eltazi, A. Ahmed, G. Stevanin
2021Frontiers in Molecular Biosciences71 citations Open access
Semantic Scholar
Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5
C. Marelli, F. Lamari, D. Rainteau, A. Lafourcade +25 more
2018Brain : a journal of neurology71 citations
Semantic Scholar
Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias
S. Morais, L. Raymond, Mathilde Mairey, P. Coutinho +7 more
2017European Journal of Human Genetics63 citations Open access
Semantic Scholar
Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions
P. Denora, K. Smets, F. Zolfanelli, C. Ceuterick-de Groote +14 more
2016Brain : a journal of neurology63 citations Open access
Semantic Scholar
Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia
A. Lossos, Claudia Stümpfig, G. Stevanin, M. Gaussen +13 more
2015Neurology63 citations
Semantic Scholar
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
S. Laurie, W. Steyaert, Elke de Boer, K. Polavarapu +105 more
2025Nature Medicine60 citations Open access
Semantic Scholar
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions
Jean-Loup Méreaux, C. Davoine, D. Pellerin, Giulia Coarelli +43 more
2023EBioMedicine59 citations Open access
Semantic Scholar
Novel UBQLN2 mutations linked to amyotrophic lateral sclerosis and atypical hereditary spastic paraplegia phenotype through defective HSP70-mediated proteolysis.
E. Teyssou, L. Chartier, M. del Mar Amador, Roselina Lam +19 more
2017Neurobiology of Aging58 citations
Semantic Scholar
JUNCTOPHILIN 3 (JPH3) EXPANSION MUTATIONS CAUSING HUNTINGTON DISEASE LIKE 2 (HDL2) ARE COMMON IN SOUTH AFRICAN PATIENTS WITH AFRICAN ANCESTRY AND A HUNTINGTON DISEASE PHENOTYPE
A. Krause, CL Mitchell, F. Essop, S. Tager +5 more
2015American Journal of Medical Genetics Part B: Neuropsychiatric Genetics58 citations Open access
Semantic Scholar
Expanding the Spectrum of Genes Involved in Huntington Disease Using a Combined Clinical and Genetic Approach.
L. Mariani, C. Tesson, P. Charles, C. Cazeneuve +11 more
2016JAMA Neurology50 citations Open access
Semantic Scholar
Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7.
Giulia Coarelli, Rebecca Schule, B. C. van de Warrenburg, P. de Jonghe +32 more
2019Neurology49 citations Open access
Semantic Scholar
Lipids in the Physiopathology of Hereditary Spastic Paraplegias
F. Darios, F. Mochel, G. Stevanin
2020Frontiers in Neuroscience44 citations Open access
Semantic Scholar
Loss of spatacsin impairs cholesterol trafficking and calcium homeostasis
Maxime Boutry, Alexandre Pierga, Raphaël Matusiak, J. Branchu +7 more
2019Communications Biology43 citations Open access
Semantic Scholar
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment
T. Roux, M. Barbier, M. Papin, C. Davoine +17 more
2020Genetics in Medicine41 citations Open access
Semantic Scholar
Survival and severity in dominant cerebellar ataxias
M. Monin, Sophie Tezenas du Montcel, C. Marelli, C. Cazeneuve +6 more
2015Annals of Clinical and Translational Neurology40 citations Open access
Semantic Scholar
Mitochondrial morphology and cellular distribution are altered in SPG31 patients and are linked to DRP1 hyperphosphorylation
Julie Lavie, R. Serrat, Nadège Bellance, G. Courtand +11 more
2016Human Molecular Genetics36 citations Open access
Semantic Scholar
SLC25A46 mutations associated with Autosomal Recessive Cerebellar Ataxia in North African families
M. Hammer, Jinhui Ding, F. Mochel, G. Eleuch-Fayache +16 more
2017Neurodegenerative Diseases34 citations Open access
Semantic Scholar
Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia
T. Newton, Rachel Allison, J. Edgar, Jennifer H. Lumb +16 more
2018Brain : a journal of neurology31 citations Open access
Semantic Scholar
Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan
Liena E. O. Elsayed, Inaam N. Mohammed, Ahlam A. A. Hamed, Maha A. Elseed +30 more
2016European Journal of Human Genetics31 citations Open access
Semantic Scholar
Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia.
A. Rebelo, I. Eidhof, V. Cintra, Léna Guillot-Noel +17 more
2021Brain : a journal of neurology30 citations
Semantic Scholar
Progressive ataxia of Charolais cattle highlights a role of KIF1C in sustainable myelination
A. Duchesne, A. Vaiman, Magali Frah, S. Floriot +18 more
2018PLoS Genetics29 citations Open access
Semantic Scholar
Interrupted CAG expansions in ATXN2 gene expand the genetic spectrum of frontotemporal dementias
Clémence Fournier, Vincent Anquetil, A. Camuzat, Sandrine Stirati-Buron +13 more
2018Acta Neuropathologica Communications28 citations Open access
Semantic Scholar
Current Knowledge of Endolysosomal and Autophagy Defects in Hereditary Spastic Paraplegia
Liriopé Toupenet Marchesi, M. Leblanc, G. Stevanin
2021Cells27 citations Open access
Semantic Scholar
ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia
C. Bouwkamp, Z. Afawi, A. Fattal-Valevski, Inge E. Krabbendam +15 more
2018Neurology: Genetics27 citations Open access
Semantic Scholar
LRRK2 G2019S Parkinson's disease with more benign phenotype than idiopathic
Sawssan Ben Romdhan, N. Farhat, A. Nasri, S. Lesage +8 more
2018Acta Neurologica Scandinavica27 citations Open access
Semantic Scholar
Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing
Marie Coutelier, G. Stevanin, A. Brice
2015Journal of Neurology25 citations
Semantic Scholar
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
B. Yaldiz, Erdi Kucuk, J. Hampstead, T. Hofste +296 more
2023Human Genomics24 citations Open access
Semantic Scholar
CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56
C. Durand, Laura Dhers, C. Tesson, A. Tessa +20 more
2018Human Mutation24 citations Open access
Semantic Scholar
Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25
M. Barbier, M. Bahlo, Alessandra Pennisi, Maxime Jacoupy +26 more
2022Annals of Neurology23 citations Open access
Semantic Scholar
Spastic paraplegia due to recessive or dominant mutations in ERLIN2 can convert to ALS
M. del Mar Amador, F. Muratet, E. Teyssou, G. Banneau +11 more
2019Neurology: Genetics23 citations Open access
Semantic Scholar
Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function
Natalia Mendoza-Ferreira, Marie Coutelier, E. Janzen, S. Hosseinibarkooie +14 more
2018Neurology: Genetics23 citations Open access
Semantic Scholar
Mutations in DDHD1, encoding a phospholipase A1, is a novel cause of retinopathy and neurodegeneration with brain iron accumulation.
R. Dard, C. Meyniel, V. Touitou, G. Stevanin +4 more
2017European Journal of Medical Genetics22 citations
Semantic Scholar
Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes
G. Demidov, S. Laurie, A. Torella, G. Piluso +38 more
2023European Journal of Human Genetics21 citations Open access
Semantic Scholar
De novo and dominantly inherited SPTAN1 mutations cause Spastic Paraplegia and Cerebellar Ataxia
L. Van de Vondel, J. De Winter, D. Beijer, Giulia Coarelli +34 more
2022Movement Disorders21 citations Open access
Semantic Scholar
Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia.
Jean-Loup Méreaux, G. Banneau, M. Papin, Giulia Coarelli +17 more
2022Brain : a journal of neurology21 citations Open access
Semantic Scholar
Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate elevation: a case report
Ashraf Yahia, Liena E. O. Elsayed, Arwa Babai, M. Salih +10 more
2018BMC Neurology19 citations Open access
Semantic Scholar

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