Результаты поиска - Christian Hamel

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  1. 1
    Cone rod dystrophies

    Cone rod dystrophies по Christian Hamel

    Опубликовано 2007
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  2. 2
    Retinitis pigmentosa

    Retinitis pigmentosa по Christian Hamel

    Опубликовано 2006
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  3. 3
    Molecular cloning and expression of RPE65, a novel retinal pigment epithelium-specific microsomal protein that is post-transcriptionally regulated in vitro

    Molecular cloning and expression of RPE65, a novel retinal pigment epithelium-specific microsomal protein that is post-transcriptionally regulated in vitro по Christian Hamel, Ekaterini Tsilou, Bruce A. Pfeffer, John J. Hooks, Barbara Detrick, T. Michael Redmond

    Опубликовано 1993
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    Artigo
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  4. 4
    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 по Majida Charif, Agathe Roubertie, Sara Salime, Sonia Mamouni, Cyril Goizet, Christian Hamel, Guy Lenaers

    Опубликовано 2015
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    Artigo
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  5. 5
    Whole<i>USH2A</i>Gene Sequencing Identifies Several New Deep Intronic Mutations

    Whole<i>USH2A</i>Gene Sequencing Identifies Several New Deep Intronic Mutations по Alessandro Liquori, Christel Vaché, David Baux, Catherine Blanchet, Christian Hamel, Sue Malcolm, M. Kœnig, Mireille Claustres, Anne‐Françoise Roux

    Опубликовано 2015
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    Artigo
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  6. 6
    Glucagon-Like Peptide-1 Is Involved in Sodium and Water Homeostasis in Humans

    Glucagon-Like Peptide-1 Is Involved in Sodium and Water Homeostasis in Humans по Jean‐Pierre Gutzwiller, Petr Hrúz, Andreas Huber, Christian Hamel, C Zehnder, Jürgen Drewe, Heike Gutmann, Zeno Stanga, Daniel Vogel, Christoph Beglinger

    Опубликовано 2006
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    Artigo
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  7. 7
    OPA1 gene therapy prevents retinal ganglion cell loss in a Dominant Optic Atrophy mouse model

    OPA1 gene therapy prevents retinal ganglion cell loss in a Dominant Optic Atrophy mouse model по Emmanuelle Sarzi, Marie Seveno, Camille Piro-Mégy, Lucie Elzière, Mélanie Quilès, Marie O. Péquignot, Agnès Müller, Christian Hamel, Guy Lenaers, Cécile Delettre

    Опубликовано 2018
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    Artigo
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  8. 8
    Retinal Dehydrogenase 12 (RDH12) Mutations in Leber Congenital Amaurosis

    Retinal Dehydrogenase 12 (RDH12) Mutations in Leber Congenital Amaurosis по Isabelle Perrault, Sylvain Hanein, S. Gerber, Fabienne Barbet, Dominique Ducroq, Hélène Dollfus, Christian Hamel, Jean‐Louis Dufier, Arnold Munnich, Josseline Kaplan, Jean‐Michel Rozet

    Опубликовано 2004
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    Artigo
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  9. 9
    Mutations in CNNM4 Cause Recessive Cone-Rod Dystrophy with Amelogenesis Imperfecta

    Mutations in CNNM4 Cause Recessive Cone-Rod Dystrophy with Amelogenesis Imperfecta по Bozena Polok, Pascal Escher, Aude Ambresin, Éliane Chouery, Sylvain Bolay, Isabelle Meunier, Francis Nan, Christian Hamel, Francis L. Munier, Bernard Thilo, André Mégarbané, Daniel F. Schorderet

    Опубликовано 2009
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    Artigo
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  10. 10
    The Clinical Phenotype of <i>CNGA3</i>-Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy Trial

    The Clinical Phenotype of <i>CNGA3</i>-Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy Trial по Ditta Zobor, Annette Werner, Franco Stanzial, Francesco Benedicenti, Günther Rudolph, Ulrich Kellner, Christian Hamel, Sten Andréasson, Gergely Zobor, Torsten Straßer, Bernd Wissinger, Susanne Kohl, Eberhart Zrenner

    Опубликовано 2017
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    Artigo
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  11. 11
    The human dynamin‐related protein OPA1 is anchored to the mitochondrial inner membrane facing the inter‐membrane space

    The human dynamin‐related protein OPA1 is anchored to the mitochondrial inner membrane facing the inter‐membrane space по Aurélien Olichon, Laurent J. Emorine, Eric Descoins, Laetitia Pelloquin, Laetitia Brichese, Nicole Gas, Emmanuelle Guillou, Cécile Delettre, Annie Valette, Christian Hamel, Bernard Ducommun, Guy Lenaers, Pascale Belenguer

    Опубликовано 2002
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    Artigo
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  12. 12
    Enrichment of LOVD-USHbases with 152<i>USH2A</i>Genotypes Defines an Extensive Mutational Spectrum and Highlights Missense Hotspots

    Enrichment of LOVD-USHbases with 152<i>USH2A</i>Genotypes Defines an Extensive Mutational Spectrum and Highlights Missense Hotspots по David Baux, Catherine Blanchet, Christian Hamel, Isabelle Meunier, Lise Larrieu, Valérie Faugère, Christel Vaché, Pierangela Castorina, Bernard Puech, Dominique Bonneau, Sue Malcolm, Mireille Claustres, Anne‐Françoise Roux

    Опубликовано 2014
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    Artigo
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  13. 13
    TRPV4 channels mediate the infrared laser-evoked response in sensory neurons

    TRPV4 channels mediate the infrared laser-evoked response in sensory neurons по Emmanuelle S. Albert, Jean‐Michel Bec, Gilles Desmadryl, Karim Chekroud, C. Travo, Sophie Gaboyard-Niay, Fabrice Bardin, Isabelle Marc, M. Dumas, Guy Lenaers, Christian Hamel, Andreas Müller, Christian Chabbert

    Опубликовано 2012
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    Artigo
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  14. 14
    Effects of OPA1 mutations on mitochondrial morphology and apoptosis: Relevance to ADOA pathogenesis

    Effects of OPA1 mutations on mitochondrial morphology and apoptosis: Relevance to ADOA pathogenesis по Aurélien Olichon, Thomas Landes, Laetitia Pelloquin, Laurent J. Emorine, Valérie Mils, Agnès Guichet, Cécile Delettre, Christian Hamel, Patrizia Amati‐Bonneau, Dominique Bonneau, Pascal Reynier, Guy Lenaers, Pascale Belenguer

    Опубликовано 2006
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    Artigo
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  15. 15
    Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability

    Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability по Claire Angebault, Majida Charif, Naïg Guegen, Camille Piro-Mégy, Bénédicte Mousson de Camaret, Vincent Procaccio, Pierre‐Olivier Guichet, Maxime Hebrard, Gaël Manès, Nicolas Leboucq, François Rivier, Christian Hamel, Guy Lenaers, Agathe Roubertie

    Опубликовано 2015
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    Artigo
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  16. 16
    Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype–phenotype correlations and impact on genetic counseling

    Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype–phenotype correlations and impact on genetic counseling по Valérie Pelletier, Marguerite Jambou, Nathalie Delphin, Elena Zinovieva, Morgane Stum, Nadine Gigarel, Hélène Dollfus, Christian Hamel, Annick Toutain, Jean‐Louis Dufier, Olivier Roche, Arnold Münnich, Jean‐Paul Bonnefont, Josseline Kaplan, Jean‐Michel Rozet

    Опубликовано 2006
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    Artigo
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  17. 17
    Clinical Outcome After Rectal Replacement With Side-to-End, Colon-J-Pouch, or Straight Colorectal Anastomosis Following Total Mesorectal Excision

    Clinical Outcome After Rectal Replacement With Side-to-End, Colon-J-Pouch, or Straight Colorectal Anastomosis Following Total Mesorectal Excision по Walter R. Marti, Gaudenz Curti, H Wehrli, Felix Grieder, Michael Graf, Beat Gloor, Markus Zuber, Nicolas Demartines, Fabrizio Fasolini, B. Lerf, Christoph Kettelhack, Christiane Andrieu, Martin Bigler, Stefanie Hayoz, Karin Ribi, Christian Hamel

    Опубликовано 2018
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    Artigo
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  18. 18
    Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis

    Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecula... по Sylvain Hanein, Isabelle Perrault, S. Gerber, Gaëlle Tanguy, Fabienne Barbet, Dominique Ducroq, Patrick Calvas, Hélène Dollfus, Christian Hamel, Tuija Löppönen, Francis L. Munier, Louisa Santos, Stavit A. Shalev, Dimitrios Zafeiriou, Jean‐Louis Dufier, Arnold Munnich, Jean‐Michel Rozet, Josseline Kaplan

    Опубликовано 2004
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    Artigo
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  19. 19
    ER-mitochondria cross-talk is regulated by the Ca <sup>2+</sup> sensor NCS1 and is impaired in Wolfram syndrome

    ER-mitochondria cross-talk is regulated by the Ca <sup>2+</sup> sensor NCS1 and is impaired in Wolfram syndrome по Claire Angebault, Jérémy Fauconnier, Simone Patergnani, Jennifer Rieusset, Alberto Danese, Corentin Affortit, Jolanta Jagodzinska, Camille Mégy, Mélanie Quilès, Chantal Cazevieille, Julia Korchagina, Delphine Bonnet-Wersinger, Dan Miléa, Christian Hamel, Paolo Pinton, Marc Thiry, Alain Lacampagne, Benjamin Delprat, Cécile Delettre

    Опубликовано 2018
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    Artigo
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  20. 20
    OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution

    OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution по Ghizlane Elachouri, Sara Vidoni, Claudia Zanna, Alexandre Pattyn, Hassan Boukhaddaoui, Karen Gaget, Patrick Yu‐Wai‐Man, Giuseppe Gasparre, Emmanuelle Sarzi, Cécile Delettre, Aurélien Olichon, Dominique Loiseau, Pascal Reynier, Patrick F. Chinnery, Agnès Rötig, Valério Carelli, Christian Hamel, Michela Rugolo, Guy Lenaers

    Опубликовано 2010
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