C. Durand

Most-cited papers

1. Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

   C. Durand, C. Betancur, Tobias M. Boeckers, Juergen Bockmann +19 more

   2007Nature Genetics1,538 citations Open access

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2. Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments

   C. Leblond, C. Nava, A. Polge, J. Gauthier +56 more

   2014PLoS Genetics579 citations Open access

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3. Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.

   C. Tesson, M. Nawara, M. Salih, R. Rossignol +38 more

   2012American Journal of Human Genetics192 citations Open access

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4. 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

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5. The Planar Polarity Protein Scribble1 Is Essential for Neuronal Plasticity and Brain Function

   Maité M. Moreau, Nicolas H. Piguel, Thomas Papouin, M. Koehl +10 more

   2010Journal of Neuroscience74 citations Open access

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6. New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix–Saguenay

   J. Pilliod, S. Moutton, Julie Lavie, Elise Maurat +39 more

   2015Annals of Neurology71 citations

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7. Genetic variations of the melatonin pathway in patients with attention‐deficit and hyperactivity disorders

   P. Chaste, Nathalie Clément, H. Botros, J. Guillaume +23 more

   2011Journal of Pineal Research68 citations

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8. Expression and genetic variability of PCDH11Y, a gene specific to Homo sapiens and candidate for susceptibility to psychiatric disorders

   C. Durand, C. Kappeler, C. Betancur, R. Delorme +13 more

   2006American Journal of Medical Genetics Part B: Neuropsychiatric Genetics59 citations Open access

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9. No human tryptophan hydroxylase-2 gene R441H mutation in a large cohort of psychiatric patients and control subjects.

   R. Delorme, C. Durand, C. Betancur, M. Wagner +15 more

   2006Biological Psychiatry56 citations Open access

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10. Analysis of X chromosome inactivation in autism spectrum disorders

    Xiao-Hong Gong, E. Bacchelli, Francesca Blasi, C. Toma +21 more

    2008American Journal of Medical Genetics Part B: Neuropsychiatric Genetics51 citations Open access

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11. Scribble1/AP2 complex coordinates NMDA receptor endocytic recycling.

    Nicolas H. Piguel, S. Fièvre, Jean-Michel Blanc, M. Carta +19 more

    2014Cell Reports49 citations Open access

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12. An investigation of ribosomal protein L10 gene in autism spectrum disorders

    Xiao-Hong Gong, R. Delorme, F. Fauchereau, C. Durand +12 more

    2009BMC Medical Genetics31 citations Open access

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13. 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

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14. Pseudoxanthoma elasticum overlaps hereditary spastic paraplegia type 56

    A. Legrand, C. Pujol, C. Durand, A. Mesnil +22 more

    2020Journal of Internal Medicine16 citations

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15. Whole-exome sequencing confirms implication of VPS13D as a potential cause of progressive spastic ataxia

    C. Durand, C. Angélini, V. Michaud, C. Delleci +3 more

    2022BMC Neurology13 citations Open access

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16. Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late‐Onset Phenotypes

    C. Angélini, C. Durand, P. Fergelot, Julie Deforges +17 more

    2023Movement Disorders8 citations Open access

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17. Mutation on MT-CO2 gene induces mitochondrial disease associated with neurodegeneration and intracerebral iron accumulation (NBIA).

    S. Courtois, C. Angélini, C. Durand, N. Amoedo +9 more

    2023Biochimica et Biophysica Acta - Molecular Basis of Disease7 citations Open access

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18. [Alterations in synapsis formation and function in autism disorders].

    C. Durand, P. Chaste, F. Fauchereau, C. Betancur +2 more

    2008Medecine sciences : M/S3 citations Open access

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

    Vincent Morin, C. Durand, C. Angelini, Giovanni Stevanin +4 more

    2026International Journal of Molecular Sciences0 citations Open access

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

    Mouna Messaoud-Khelifi, Razika Boulariah-Hadjou, M. I. Kediha, Léna Guillot-Noel +7 more

    2025Neurogenetics0 citations Open access

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21. Genetic and Functional ascertainment of the Melatonin Pathway in Patients with Attention Deficit and Hyperactivity Disorders

    P. Chaste, Nathalie Clément, H. Botros, J. Guillaume +23 more

    20180 citations

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22. autistaDisturbances in Patients with Autistic Spectrum Disorders

    C. Durand

    20090 citations

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23. Author ' s response to reviews Title : An investigation of ribosomal protein L 10 gene in autism spectrum disorders

    C. Durand, H. Anckarsäter, H. Anckarsäter, M. Leboyer

    20080 citations

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