檢索結果 - Cyril Goizet

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  1. 1
    A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia

    A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia 由 Cyril Goizet

    出版 2004
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  2. 2
    Zebrafish models of human motor neuron diseases: Advantages and limitations

    Zebrafish models of human motor neuron diseases: Advantages and limitations 由 Patrick J. Babin, Cyril Goizet, Demetrio Raldúa

    出版 2014
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  3. 3
    MRI of neurodegeneration with brain iron accumulation

    MRI of neurodegeneration with brain iron accumulation 由 Stéphane Lehéricy, Emmanuel Roze, Cyril Goizet, Fanny Mochel

    出版 2020
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  4. 4
    Genetics of amyotrophic lateral sclerosis: A review

    Genetics of amyotrophic lateral sclerosis: A review 由 Stéphane Mathis, Cyril Goizet, Antoine Soulages, Jean‐Michel Vallat, Gwendal Le Masson

    出版 2019
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  5. 5
    A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability

    A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability 由 Majida Charif, Agathe Roubertie, Sara Salime, Sonia Mamouni, Cyril Goizet, Christian Hamel, Guy Lenaers

    出版 2015
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  6. 6
    Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10

    Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10 由 Cyril Goizet, Amir Boukhris, Emeline Mundwiller, Chantal Tallaksen, Sylvie Forlani, Annick Toutain, Nathalie Carrière, V. Paquis, Christel Depienne, Alexandra Dürr, Giovanni Stévanin, Alexis Brice

    出版 2008
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  7. 7
    Non-specific gastrointestinal features: Could it be Fabry disease?

    Non-specific gastrointestinal features: Could it be Fabry disease? 由 Max J. Hilz, Eloisa Arbustini, Lorenzo Dagna, Antonio Gasbarrini, Cyril Goizet, Didier Lacombe, Rocco Liguori, Raffaele Manna, Juan Politei, Marco Spada, Alessandro P. Burlina

    出版 2018
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  8. 8
    Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review

    Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review 由 Marie T. Vanier, Paul Gissen, Peter Bauer, María Josep Coll, Alberto Burlina, Christian J. Hendriksz, Philippe Latour, Cyril Goizet, Richard W.D. Welford, Thorsten Marquardt, Stefan Kolb

    出版 2016
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  9. 9
    Heterogeneity of Platelet Functional Alterations in Patients With Filamin A Mutations

    Heterogeneity of Platelet Functional Alterations in Patients With Filamin A Mutations 由 Eliane Berrou, Frédéric Adam, Marilyne Lebret, Patricia Fergelot, Alexandre Kauskot, Isabelle Coupry, Martine Jandrot‐Perrus, Alan T. Nurden, Rémi Favier, Jean‐Philippe Rosa, Cyril Goizet, Paquita Nurden, Marijke Bryckaert

    出版 2012
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  10. 10
    Pain in Fabry Disease: Practical Recommendations for Diagnosis and Treatment

    Pain in Fabry Disease: Practical Recommendations for Diagnosis and Treatment 由 Juan Politei, Didier Bouhassira, Dominique P. Germain, Cyril Goizet, A. Guerrero-Solá, Max J. Hilz, Elspeth Hutton, Amel Karaa, Rocco Liguori, Nurcan Üçeyler, Lonnie K. Zeltzer, Alessandro P. Burlina

    出版 2016
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  11. 11
    Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant

    Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant 由 Chloé Angelini, Julien Van‐Gils, Antoine Bigourdan, Pierre‐Simon Jouk, Didier Lacombe, Patrice Ménégon, Sébastien Moutton, Florence Riant, Guilhem Solé, Elisabeth Tournier‐Lasserve, Aurélien Trimouille, Marie Vincent, Cyril Goizet

    出版 2018
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  12. 12
    Molecular screening of<i>ALK1/ACVRL1</i>and<i>ENG</i>genes in hereditary hemorrhagic telangiectasia in France

    Molecular screening of<i>ALK1/ACVRL1</i>and<i>ENG</i>genes in hereditary hemorrhagic telangiectasia in France 由 Gaëtan Lesca, Henri Plauchu, Florence Coulet, Sylvain Lefèbvre, Ghislaine Plessis, Sylvie Odent, Sophie Rivière, Bruno Leheup, Cyril Goizet, Marie‐France Carette, Jean-François Cordier, S. Pinson, Florent Soubrier, Alain Calender, Sophie Giraud

    出版 2004
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  13. 13
    Distribution ofENG andACVRL1 (ALK1) mutations in French HHT patients

    Distribution ofENG andACVRL1 (ALK1) mutations in French HHT patients 由 Gaëtan Lesca, Nelly Burnichon, Grégory Raux, Mario Tosi, S. Pinson, Marie‐Jeanne Marion, E. Babin, Brigitte Gilbert‐Dussardier, Sophie Rivière, Cyril Goizet, Laurence Faivre, Henri Plauchu, Thierry Frébourg, Alain Calender, Sophie Giraud

    出版 2006
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  14. 14
    Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis

    Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis 由 Camille Louvrier, Éric Pasmant, Audrey Briand‐Suleau, Joëlle Cohen, Patrick Nitschké, Juliette Nectoux, Lucie Orhant, Cécile Zordan, Cyril Goizet, Stéphane Goutagny, Dominique Lallemand, Michel Vidaud, Dominique Vidaud, Michel Kalamarides, Béatrice Parfait

    出版 2018
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  15. 15
    Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships

    Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships 由 Nouriya Al‐Sannaa, Luisa Bay, Deborah Barbouth, Youssef Benhayoun, Cyril Goizet, Norberto Guelbert, Simon Jones, Sandra Obikawa Kyosen, Ana María Martins, Chanika Phornphutkul, Celia Reig, Rebecca Pleat, Shari Fallet, Iva Ivanovska Holder

    出版 2015
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  16. 16
    Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients

    Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients 由 Isabelle Le Ber, Naïma Bouslam, Sophie Rivaud-Péchoux, João Tiago Guimarães, Ali Benomar, Céline Chamayou, Cyril Goizet, Maria-Ceù Moreira, Sandra Klur, Mohamed Yahyaoui, Y. Agid, Michel Kœnig, Giovanni Stévanin, Alexis Brice, Alexandra Dürr

    出版 2004
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  17. 17
    Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case

    Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case 由 Aurore Carré, Gabor Szinnai, Mireille Castanet, Sylvia Sura‐Trueba, Elodie Tron, Isabelle Broutin, Pascal Barat, Cyril Goizet, Didier Lacombe, M.L. Moutard, C. Raybaud, C. Raynaud-Ravni, Serge Romana, H Ythier, Juliane Léger, Mirosław P. Polak

    出版 2009
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  18. 18
    An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature

    An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature 由 Justine Lerat, Laurence Jonard, Natalie Loundon, Sophie Christin‐Maître, Didier Lacombe, Cyril Goizet, Cécile Rouzier, Lionel Van Maldergem, Souad Gherbi, Éréa-Noël Garabédian, Jean‐Paul Bonnefont, Philippe Touraine, Isabelle Mösnier, Arnold Münnich, Françoise Denoyelle, Sandrine Marlin

    出版 2016
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  19. 19
    Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases

    Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases 由 Pierre Labauge, Lætitia Horzinski, Xavier Ayrignac, Pierre Blanc, Sandra Vukusic, Diana Rodriguez, François Mauguı̀ere, Laure Peter‐Derex, Cyril Goizet, Françoise Bouhour, Christian Denier, Christian Confavreux, Mona M. Obadia, Frédéric Blanc, de Sèze, Anne Fogli, Odile Boespflug‐Tanguy

    出版 2009
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  20. 20
    Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients

    Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patient... 由 Claudia Braida, Rhoda Stefanatos, Berit Adam, Navdeep Mahajan, H.J.M. Smeets, Florence Niel, Cyril Goizet, Benoı̂t Arveiler, Michel Kœnig, Clotilde Lagier‐Tourenne, Jean‐Louis Mandel, Catharina G. Faber, Christine de Die‐Smulders, Frank Spaans, Darren G. Monckton

    出版 2010
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