檢索結果 - Eric Leguern

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  1. 1
    Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33

    Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33 由 Eric LeGuern

    出版 1996
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  2. 2
    <i>PCDH19</i>-related infantile epileptic encephalopathy: An unusual X-linked inheritance disorder

    <i>PCDH19</i>-related infantile epileptic encephalopathy: An unusual X-linked inheritance disorder 由 Christel Depienne, Eric Leguern

    出版 2012
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    Revisão
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  3. 3
    LGI1 acts presynaptically to regulate excitatory synaptic transmission during early postnatal development

    LGI1 acts presynaptically to regulate excitatory synaptic transmission during early postnatal development 由 Morgane Boillot, Chun-Yao Lee, Camille Allène, Eric LeGuern, Stéphanie Baulac, Nathalie Rouach

    出版 2016
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  4. 4
    Does epilepsy in multiplex autism pedigrees define a different subgroup in terms of clinical characteristics and genetic risk?

    Does epilepsy in multiplex autism pedigrees define a different subgroup in terms of clinical characteristics and genetic risk? 由 Claire Amiet, Isabelle Gourfinkel‐An, Claudine Laurent, Nicolas Bodeau, Bérengère Génin, Eric Leguern, Sylvie Tordjman, David Cohen

    出版 2013
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  5. 5
    A Second Locus for Familial Generalized Epilepsy with Febrile Seizures Plus Maps to Chromosome 2q21-q33

    A Second Locus for Familial Generalized Epilepsy with Febrile Seizures Plus Maps to Chromosome 2q21-q33 由 Stéphanie Baulac, Isabelle Gourfinkel‐An, Fabienne Picard, Myriam Rosenberg‐Bourgin, Jean‐François Prud'homme, Michel Baulac, Alexis Brice, Eric Leguern

    出版 1999
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  6. 6
    Accumulation of TDP-43 and α-actin in an amyotrophic lateral sclerosis patient with the K17I ANG mutation

    Accumulation of TDP-43 and α-actin in an amyotrophic lateral sclerosis patient with the K17I ANG mutation 由 Danielle Seilhean, Cécile Cazeneuve, Valérie Thuriès, Odile Russaouen, Stéphanie Millecamps, François Salachas, Vincent Meininger, Eric LeGuern, Charles Duyckaerts

    出版 2009
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  7. 7
    A Comprehensive Endocrine Description of Kennedy’s Disease Revealing Androgen Insensitivity Linked to CAG Repeat Length

    A Comprehensive Endocrine Description of Kennedy’s Disease Revealing Androgen Insensitivity Linked to CAG Repeat Length 由 S. Dejager, Hélène Bry‐Gauillard, Éric Bruckert, B. Eymard, François Salachas, Eric Leguern, S. Tardieu, Rita Chadarévian, P. Giral, G Turpin

    出版 2002
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  8. 8
    Autism, language delay and mental retardation in a patient with 7q11 duplication

    Autism, language delay and mental retardation in a patient with 7q11 duplication 由 Christel Depienne, Delphine Héron, Catalina Betancur, B Benyahia, Oriane Trouillard, Delphine Bouteiller, Alain Verloès, Eric LeGuern, Marion Leboyer, Alexis Brice

    出版 2007
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    Carta
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  9. 9
    Electroclinical characterization of epileptic seizures in leucine-rich, glioma-inactivated 1-deficient mice

    Electroclinical characterization of epileptic seizures in leucine-rich, glioma-inactivated 1-deficient mice 由 E Chabrol, Vincent Navarro, Giovanni Provenzano, Ivan Cohen, Céline Dinocourt, Sophie Rivaud-Péchoux, Desdemona Fricker, Michel Baulac, Richard Miles, Eric LeGuern, Stéphanie Baulac

    出版 2010
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  10. 10
    Parental mosaicism can cause recurrent transmission ofSCN1A mutations associated with severe myoclonic epilepsy of infancy

    Parental mosaicism can cause recurrent transmission ofSCN1A mutations associated with severe myoclonic epilepsy of infancy 由 Christel Depienne, Alexis Arzimanoglou, Oriane Trouillard, Estelle Fédirko, Stéphanie Baulac, Cécile Saint‐Martin, Merle Ruberg, Charlotte Dravet, Rima Nabbout, Michel Baulac, Isabelle Gourfinkel‐An, Eric Leguern

    出版 2006
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  11. 11
    A Locus for an Axonal Form of Autosomal Recessive Charcot-Marie-Tooth Disease Maps to Chromosome 1q21.2-q21.3

    A Locus for an Axonal Form of Autosomal Recessive Charcot-Marie-Tooth Disease Maps to Chromosome 1q21.2-q21.3 由 Ahmed Bouhouche, Ali Benomar, Nazha Birouk, Angélique Mularoni, Farid Meggouh, Jean‐Pol Tassin, D. Grid, Antoon Vandenberghe, Mohamed Yahyaoui, T. Chkili, Alexis Brice, Eric LeGuern

    出版 1999
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  12. 12
    Depdc5 knockdown causes <scp>mTOR</scp>‐dependent motor hyperactivity in zebrafish

    Depdc5 knockdown causes <scp>mTOR</scp>‐dependent motor hyperactivity in zebrafish 由 Hortense de Calbiac, Adriana Dabacan, Elise Marsan, Hervé Tostivint, Gabrielle Devienne, Saeko Ishida, Eric LeGuern, Stéphanie Baulac, Raul C. Mureșan, Edor Kabashi, Sorana Ciura

    出版 2018
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  13. 13
    Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia–associated epilepsy

    Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia–associated epilepsy 由 Théo Ribierre, Charlotte Deleuze, Alexandre Bacq, Sara Baldassari, Elise Marsan, Mathilde Chipaux, Giuseppe Muraca, Delphine Roussel, Vincent Navarro, Eric LeGuern, Richard Miles, Stéphanie Baulac

    出版 2018
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  14. 14
    Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33

    Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q... 由 A.A.W.M. Gabreëls‐Festen, Sylvia E. C. van Beersum, L. Eshuis, Eric LeGuern, F. Gabreëls, Baziel G.M. van Engelen, Edwin C.M. Mariman

    出版 1999
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  15. 15
    Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology

    Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology 由 Elisa Teyssou, Takahiro Takeda, Vincent Lebon, Séverine Boillée, Brahima Doukouré, Guillaume Bataillon, Véronique Sazdovitch, Cécile Cazeneuve, Vincent Meininger, Eric LeGuern, François Salachas, Danielle Seilhean, Stéphanie Millecamps

    出版 2013
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  16. 16
    Mutations in MTMR13, a New Pseudophosphatase Homologue of MTMR2 and Sbf1, in Two Families with an Autosomal Recessive Demyelinating Form of Charcot-Marie-Tooth Disease Associated with Early-Onset Glaucoma

    Mutations in MTMR13, a New Pseudophosphatase Homologue of MTMR2 and Sbf1, in Two Families with an Autosomal Recessive Demyelinating Form of Charcot-Marie-Tooth Disease Associated w... 由 Hamid Azzedine, Alessandra Bolino, T. Taïeb, Nazha Birouk, Marco Di Duca, Ahmed Bouhouche, Soufiène Benamou, A. Mrabet, T. Hammadouche, T. Chkili, Riadh Gouider, Roberto Ravazzolo, Alexis Brice, Jocelyn Laporte, Eric LeGuern

    出版 2003
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  17. 17
    STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients

    STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients 由 Cyril Mignot, Marie‐Laure Moutard, Oriane Trouillard, Isabelle Gourfinkel‐An, Aurélia Jacquette, Benoı̂t Arveiler, Fanny Morice‐Picard, Didier Lacombe, Catherine Chiron, Dorothée Ville, Perrine Charles, Eric Leguern, Christel Depienne, Delphine Héron

    出版 2011
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  18. 18
    Mutations of DEPDC5 cause autosomal dominant focal epilepsies

    Mutations of DEPDC5 cause autosomal dominant focal epilepsies 由 Saeko Ishida, Fabienne Picard, Gabrielle Rudolf, Eric Noé, Guillaume Achaz, Pierre Thomas, Pierre Genton, Emeline Mundwiller, Markus Wolff, Christian Marescaux, Richard Miles, Michel Baulac, Édouard Hirsch, Eric LeGuern, Stéphanie Baulac

    出版 2013
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  19. 19
    Glutamatergic neuron-targeted loss of LGI1 epilepsy gene results in seizures

    Glutamatergic neuron-targeted loss of LGI1 epilepsy gene results in seizures 由 Morgane Boillot, Clément Huneau, Elise Marsan, Katia Lehongre, Vincent Navarro, Saeko Ishida, Béatrice Dufresnois, Ekim Özkaynak, J.L. Garrigue, Richard Miles, Benoı̂t Martin, Eric LeGuern, Matthew P. Anderson, Stéphanie Baulac

    出版 2014
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    Artigo
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  20. 20
    Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia

    Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia 由 Jean‐Loup Méreaux, Guillaume Banneau, Mélanie Papin, Giulia Coarelli, Rémi Valter, Laure Raymond, Bophara Kol, Olivier Ariste, Livia Parodi, Laurène Tissier, Mathilde Mairey, Samia Ait Said, Celia Gautier, Marine Guillaud-Bataille, Mathieu Anheim, Jean‐Philippe Azulay, Odile Boesfplug-Tanguy, Perrine Charles, Alexandra Dürr, Cyril Goizet, Didier Hannequin, Vincent Huin, Michel Kœnig, Pierre Labauge, Eric Leguern, Karine Nguyen, Mathilde Renaud, Diana Rodriguez, Christophe Verny, Sylvie Forlani, Pierre de la Grange, Alexis Brice, Giovanni Vazza, Alexandra Dürr, Eric Leguern, Giovanni Stévanin

    出版 2021
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