Hasil Pencarian - Alexis Brice

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  1. 1
    Monogenic PD in Brazil: a step towards precision medicine

    Monogenic PD in Brazil: a step towards precision medicine oleh Thomas Courtin, Alexis Brice

    Diterbitkan 2021-06-01
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  2. 2
    Recent advances in understanding dominant spinocerebellar ataxias from clinical and genetic points of view [version 1; referees: 3 approved]

    Recent advances in understanding dominant spinocerebellar ataxias from clinical and genetic points of view [version 1; referees: 3 approved] oleh Giulia Coarelli, Alexis Brice, Alexandra Durr

    Diterbitkan 2018-11-01
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  3. 3
    Requirement for zebrafish ataxin-7 in differentiation of photoreceptors and cerebellar neurons.

    Requirement for zebrafish ataxin-7 in differentiation of photoreceptors and cerebellar neurons. oleh Constantin Yanicostas, Elisa Barbieri, Masahiko Hibi, Alexis Brice, Giovanni Stevanin, Nadia Soussi-Yanicostas

    Diterbitkan 2012-01-01
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  4. 4
    Propensity for somatic expansion increases over the course of life in Huntington disease

    Propensity for somatic expansion increases over the course of life in Huntington disease oleh Radhia Kacher, François-Xavier Lejeune, Sandrine Noël, Cécile Cazeneuve, Alexis Brice, Sandrine Humbert, Alexandra Durr

    Diterbitkan 2021-05-01
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  5. 5
    Heterogeneous Intracellular Localization and Expression of Ataxin-3

    Heterogeneous Intracellular Localization and Expression of Ataxin-3 oleh Yvon Trottier, Géraldine Cancel, Isabelle An-Gourfinkel, Yves Lutz, Chantal Weber, Alexis Brice, Etienne Hirsch, Jean-Louis Mandel

    Diterbitkan 1998-11-01
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  6. 6
    Amyloid precursor-like protein 2 cleavage contributes to neuronal intranuclear inclusions and cytotoxicity in spinocerebellar ataxia-7 (SCA7)

    Amyloid precursor-like protein 2 cleavage contributes to neuronal intranuclear inclusions and cytotoxicity in spinocerebellar ataxia-7 (SCA7) oleh Junko Takahashi-Fujigasaki, Tilo Breidert, Hiroto Fujigasaki, Charles Duyckaerts, Jacques H. Camonis, Alexis Brice, Anne-Sophie Lebre

    Diterbitkan 2011-01-01
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  7. 7
    Plasma neurofilament light chain predicts cerebellar atrophy and clinical progression in spinocerebellar ataxia

    Plasma neurofilament light chain predicts cerebellar atrophy and clinical progression in spinocerebellar ataxia oleh Giulia Coarelli, Frederic Darios, Emilien Petit, Karim Dorgham, Isaac Adanyeguh, Elodie Petit, Alexis Brice, Fanny Mochel, Alexandra Durr

    Diterbitkan 2021-06-01
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  8. 8
    Autosomal dominant cerebellar ataxias: Imaging biomarkers with high effect sizes

    Autosomal dominant cerebellar ataxias: Imaging biomarkers with high effect sizes oleh Isaac M. Adanyeguh, Vincent Perlbarg, Pierre-Gilles Henry, Daisy Rinaldi, Elodie Petit, Romain Valabregue, Alexis Brice, Alexandra Durr, Fanny Mochel

    Diterbitkan 2018-01-01
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  9. 9
    Clinical Variability of SYNJ1-Associated Early-Onset Parkinsonism

    Clinical Variability of SYNJ1-Associated Early-Onset Parkinsonism oleh Suzanne Lesage, Graziella Mangone, Christelle Tesson, Hélène Bertrand, Mustapha Benmahdjoub, Selma Kesraoui, Mohamed Arezki, Andrew Singleton, Jean-Christophe Corvol, Alexis Brice

    Diterbitkan 2021-03-01
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  10. 10
    A Meta-Analysis of α-Synuclein Multiplication in Familial Parkinsonism

    A Meta-Analysis of α-Synuclein Multiplication in Familial Parkinsonism oleh Adam Book, Ilaria Guella, Tara Candido, Alexis Brice, Nobutaka Hattori, Beomseok Jeon, Matthew J. Farrer, SNCA Multiplication Investigators of the GEoPD Consortium

    Diterbitkan 2018-12-01
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  11. 11
    SUMOylation by SUMO2 is implicated in the degradation of misfolded ataxin-7 via RNF4 in SCA7 models

    SUMOylation by SUMO2 is implicated in the degradation of misfolded ataxin-7 via RNF4 in SCA7 models oleh Martina Marinello, Andreas Werner, Mariagiovanna Giannone, Khadija Tahiri, Sandro Alves, Christelle Tesson, Wilfred den Dunnen, Jacob-S. Seeler, Alexis Brice, Annie Sittler

    Diterbitkan 2019-01-01
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  12. 12
    Spatacsin and spastizin act in the same pathway required for proper spinal motor neuron axon outgrowth in zebrafish

    Spatacsin and spastizin act in the same pathway required for proper spinal motor neuron axon outgrowth in zebrafish oleh Elodie Martin, Constantin Yanicostas, Agnès Rastetter, Seyedeh Maryam Alavi Naini, Alissia Maouedj, Edor Kabashi, Sophie Rivaud-Péchoux, Alexis Brice, Giovanni Stevanin, Nadia Soussi-Yanicostas

    Diterbitkan 2012-12-01
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  13. 13
    Clinical and genetic analysis of 29 Brazilian patients with Huntington's disease-like phenotype

    Clinical and genetic analysis of 29 Brazilian patients with Huntington's disease-like phenotype oleh Guilherme Riccioppo Rodrigues, Ruth H. Walker, Benedikt Bader, Adrian Danek, Alexis Brice, Cécile Cazeneuve, Odile Russaouen, Iscia Lopes-Cendes, Wilson Marques Jr., Vitor Tumas

    Diterbitkan 2011-06-01
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  14. 14
    Druggable transcriptomic pathways revealed in Parkinson’s patient-derived midbrain neurons

    Druggable transcriptomic pathways revealed in Parkinson’s patient-derived midbrain neurons oleh Mark van den Hurk, Shong Lau, Maria C. Marchetto, Jerome Mertens, Shani Stern, Olga Corti, Alexis Brice, Beate Winner, Jürgen Winkler, Fred H. Gage, Cedric Bardy

    Diterbitkan 2022-10-01
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  15. 15
    Proxy-analysis of the genetics of cognitive decline in Parkinson’s disease through polygenic scores

    Proxy-analysis of the genetics of cognitive decline in Parkinson’s disease through polygenic scores oleh Johann Faouzi, Manuela Tan, Fanny Casse, Suzanne Lesage, Christelle Tesson, Alexis Brice, Graziella Mangone, Louise-Laure Mariani, Hirotaka Iwaki, Olivier Colliot, Lasse Pihlstrøm, Jean-Christophe Corvol

    Diterbitkan 2024-01-01
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  16. 16
    Heterogeneous pattern of selective pressure for PRRT2 in human populations, but no association with autism spectrum disorders.

    Heterogeneous pattern of selective pressure for PRRT2 in human populations, but no association with autism spectrum disorders. oleh Guillaume Huguet, Caroline Nava, Nathalie Lemière, Etienne Patin, Guillaume Laval, Elodie Ey, Alexis Brice, Marion Leboyer, Pierre Szepetowski, Christopher Gillberg, Christel Depienne, Richard Delorme, Thomas Bourgeron

    Diterbitkan 2014-01-01
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  17. 17
    Deletion of the progranulin gene in patients with frontotemporal lobar degeneration or Parkinson disease

    Deletion of the progranulin gene in patients with frontotemporal lobar degeneration or Parkinson disease oleh Anne Rovelet-Lecrux, Vincent Deramecourt, Solenn Legallic, Claude-Alain Maurage, Isabelle Le Ber, Alexis Brice, Jean-Charles Lambert, Thierry Frébourg, Didier Hannequin, Florence Pasquier, Dominique Campion

    Diterbitkan 2008-07-01
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  18. 18
    The C289G and C418R missense mutations cause rapid sequestration of human Parkin into insoluble aggregates

    The C289G and C418R missense mutations cause rapid sequestration of human Parkin into insoluble aggregates oleh Wen-Jie Gu, Olga Corti, Francisco Araujo, Cornelia Hampe, Sandrine Jacquier, Christoph B Lücking, Nacer Abbas, Charles Duyckaerts, Thomas Rooney, Laurent Pradier, Merle Ruberg, Alexis Brice

    Diterbitkan 2003-12-01
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  19. 19
    Mutation Analysis of Consanguineous Moroccan Patients with Parkinson’s Disease Combining Microarray and Gene Panel

    Mutation Analysis of Consanguineous Moroccan Patients with Parkinson’s Disease Combining Microarray and Gene Panel oleh Ahmed Bouhouche, Christelle Tesson, Wafaa Regragui, Mounia Rahmani, Valérie Drouet, Houyam Tibar, Zouhayr Souirti, Rafiqua Ben El Haj, Naima Bouslam, Mohamed Yahyaoui, Alexis Brice, Ali Benomar, Suzanne Lesage

    Diterbitkan 2017-10-01
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  20. 20
    Novel Homozygous Missense Mutation in the ARG1 Gene in a Large Sudanese Family

    Novel Homozygous Missense Mutation in the ARG1 Gene in a Large Sudanese Family oleh Liena E. O. Elsayed, Liena E. O. Elsayed, Liena E. O. Elsayed, Inaam N. Mohammed, Ahlam A. A. Hamed, Maha A. Elseed, Mustafa A. M. Salih, Ashraf Yahia, Ashraf Yahia, Ashraf Yahia, Ashraf Yahia, Rayan Abubaker, Mahmoud Koko, Amal S. I. Abd Allah, Mustafa I. Elbashir, Muntaser E. Ibrahim, Alexis Brice, Alexis Brice, Ammar E. Ahmed, Giovanni Stevanin, Giovanni Stevanin, Giovanni Stevanin

    Diterbitkan 2020-10-01
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