תוצאות חיפוש - Christine Tranchant
- Showing 1 - 20 results of 51
- Go to Next Page
-
1
Plant Pangenome: Impacts on Phenotypes and Evolution מאת Christine Tranchant‐Dubreuil, Mathieu Rouard, François Sabot
יצא לאור 2019Outro -
2
-
3
The inherited cerebellar ataxias: an update מאת Giulia Coarelli, Thomas Wirth, Christine Tranchant, Michel Kœnig, Alexandra Dürr, Mathieu Anheim
יצא לאור 2022Revisão -
4
Pleiotropic effects of the 8.1 HLA haplotype in patients with autoimmune myasthenia gravis and thymus hyperplasia מאת Claire Vandiedonck, Geneviève Beaurain, Matthieu Giraud, Catherine Hue-Beauvais, B. Eymard, Christine Tranchant, Philippe Gajdos, J Dausset, Henri‐Jean Garchon
יצא לאור 2004Artigo -
5
-
6
Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders מאת Solveig Montaut, Christine Tranchant, Nathalie Drouot, Gabrielle Rudolf, Claire Guissart, Julien Tarabeux, Tristan Stemmelen, Amandine Velt, Cécile Fourrage, Patrick Nitschké, Bénédicte Gérard, Jean‐Louis Mandel, Michel Kœnig, Jamel Chelly, Mathieu Anheim
יצא לאור 2018Artigo -
7
Chlorophyll fluorescence-based high-throughput phenotyping facilitates the genetic dissection of photosynthetic heat tolerance in African (<i>Oryza glaberrima</i>) and Asian (<i>Or... מאת Jordan K Robson, John N. Ferguson, Lorna McAusland, Jonathan A Atkinson, Christine Tranchant‐Dubreuil, Philippe Cubry, François Sabot, Darren M. Wells, Adam H. Price, Zoe A. Wilson, Erik H. Murchie
יצא לאור 2023Artigo -
8
A 7-kDa Prion Protein (PrP) Fragment, an Integral Component of the PrP Region Required for Infectivity, Is the Major Amyloid Protein in Gerstmann-Sträussler-Scheinker Disease A117V... מאת Fabrizio Tagliavini, Patricia Lievens, Christine Tranchant, Jean-Marie Warter, Michel Mohr, Giorgio Giaccone, Francesco Perini, Giacomina Rossi, Mario Salmona, Pedro Piccardo, Bernardino Ghetti, Ronald C. Beavis, Orso Bugiani, Blas Frangione, Frances Prelli
יצא לאור 2001Artigo -
9
Next generation sequencing for molecular diagnosis of neuromuscular diseases מאת Nasim Vasli, Johann Böhm, Stéphanie Le Gras, Jean Muller, Cécile Pizot, Bernard Jost, Andoni Echaniz‐Laguna, Vincent Laugel, Christine Tranchant, Rafaëlle Bernard, Frédéric Plewniak, Serge Vicaire, Nicolas Lévy, Jamel Chelly, Jean‐Louis Mandel, Valérie Biancalana, Jocelyn Laporte
יצא לאור 2012Artigo -
10
The Rise and Fall of African Rice Cultivation Revealed by Analysis of 246 New Genomes מאת Philippe Cubry, Christine Tranchant‐Dubreuil, Anne‐Céline Thuillet, Cécile Monat, Marie-Noëlle Ndjiondjop, Karine Labadie, Corinne Cruaud, Stéfan Engelen, Nora Scarcelli, Bénédicte Rhoné, Concetta Burgarella, Christian Dupuy, Pierre Larmande, Patrick Wincker, Olivier François, François Sabot, Yves Vigouroux
יצא לאור 2018Artigo -
11
Early‐Onset Parkinsonism Is a Manifestation of the <scp><i>PPP2R5D</i></scp> p.<scp>E200K</scp> Mutation מאת Christine Kim, Thomas Wirth, Cécile Hubsch, Andrea H. Németh, Volkan Okur, Mathieu Anheim, Nathalie Drouot, Christine Tranchant, Gabrielle Rudolf, Jamel Chelly, Katrina Tatton‐Brown, Cornelis Blauwendraat, Jean Paul Vonsattel, Etty Cortés, Roy N. Alcalay, Wendy K. Chung
יצא לאור 2020Artigo -
12
Natural History and Phenotypic Spectrum of <scp>GAA‐<i>FGF14</i></scp> Sporadic Late‐Onset Cerebellar Ataxia (<scp>SCA27B</scp>) מאת Thomas Wirth, Guillemette Clément, Clarisse Delvallée, Céline Bonnet, Thomas Bogdan, Andra Iosif, Audrey Schalk, Jean‐Baptiste Chanson, David Pellerin, Bernard Brais, Virginie Roth, Marion Wandzel, Marie‐Céline Fleury, Amélie Piton, Nadège Calmels, Izzie Jacques Namer, Stéphane Kremer, Christine Tranchant, M. Renaud, Mathieu Anheim
יצא לאור 2023Artigo -
13
Mutations of the FHL1 Gene Cause Emery-Dreifuss Muscular Dystrophy מאת Lucie Gueneau, A. Bertrand, Jean‐Philippe Jaïs, Mustafa A. Salih, Tanya Stojkovic, Manfred Wehnert, Maria Hoeltzenbein, Simone Spuler, Shinji Saitoh, Annie Verschueren, Christine Tranchant, Maud Beuvin, Emmanuelle Lacène, Norma B. Romero, Simon Heath, Diana Zélénika, Thomas Voït, B. Eymard, Rabah Ben Yaou, Gisèle Bonne
יצא לאור 2009Artigo -
14
The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation מאת Martial Mallaret, Matthis Synofzik, Jae‐Ho Lee, Cari A. Sagum, Muhammad Mahajnah, Rajech Sharkia, Nathalie Drouot, M. Renaud, Fabrice Klein, Mathieu Anheim, Christine Tranchant, Cyril Mignot, Jean‐Louis Mandel, Mark T. Bedford, Peter Bauer, Mustafa A. Salih, Rebecca Schüle, Lüdger Schöls, C. Marcelo Aldaz, Michel Kœnig
יצא לאור 2013Artigo -
15
Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect מאת Yann Nadjar, Ana Lucia Hütter-Moncada, Philippe Latour, Xavier Ayrignac, Elsa Kaphan, Christine Tranchant, Pascal Cintas, Adrian Degardin, Cyril Goizet, Chloé Laurencin, Lionel Martzolff, Caroline Tilikete, Mathieu Anheim, Bertrand Audoin, Vincent Deramecourt, Thierry Dubard De Gaillarbois, Emmanuel Roze, Foudil Lamari, Marie T. Vanier, Bénédicte Héron
יצא לאור 2018Artigo -
16
Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes מאת Sophie Tézenas du Montcel, F. Clot, M. Vidailhet, Emmanuel Roze, Philippe Damier, C P Jedynak, A. Camuzat, A Lagueny, Laurent Vercueil, Diane Doummar, Lucie Guyant‐Maréchal, J.L. Houéto, G Ponsot, Stéphane Thobois, Marie‐Anne Cournelle, Alexandra Dürr, Franck Durif, Bernard Échenne, Didier Hannequin, Christine Tranchant, Alexis Brice
יצא לאור 2005Artigo -
17
Contribution of <i>ATXN2</i> intermediary polyQ expansions in a spectrum of neurodegenerative disorders מאת Serena Lattante, Stéphanie Millecamps, Giovanni Stévanin, Sophie Rivaud-Péchoux, Carine Moigneu, Agnès Camuzat, Sandra da Barroca, Emeline Mundwiller, Philippe Couarch, François Salachas, Didier Hannequin, Vincent Meininger, Florence Pasquier, Danielle Seilhean, Philippe Couratier, Véronique Danel-Brunaud, Muriel Bonnet, Christine Tranchant, Eric LeGuern, Alexis Brice, Isabelle Le Ber, Edor Kabashi
יצא לאור 2014Artigo -
18
ADCK3, an Ancestral Kinase, Is Mutated in a Form of Recessive Ataxia Associated with Coenzyme Q10 Deficiency מאת Clotilde Lagier‐Tourenne, Mériem Tazir, Luís C. López, Catarina M. Quinzii, Mirna Assoum, Nathalie Drouot, Cleverson Busso, S. Makri, Lamia Alipacha, Traki Benhassine, Mathieu Anheim, David R. Lynch, Christelle Thibault-Carpentier, Frédéric Plewniak, Laurent Bianchetti, Christine Tranchant, Olivier Poch, Salvatore DiMauro, Jean‐Louis Mandel, Mário H. Barros, Michio Hirano, Michel Kœnig
יצא לאור 2008Artigo -
19
SCA15 Due to Large ITPR1 Deletions in a Cohort of 333 White Families With Dominant Ataxia מאת Cécilia Marelli, Joyce van de Leemput, Janel O. Johnson, François Tison, Christel Thauvin-Robinet, Fabienne Picard, Christine Tranchant, Dena G. Hernandez, Bernard Huttin, J Boulliat, I Sangla, Christian Marescaux, Serge Brique, Hélène Dollfus, Sampath Arepalli, Isabelle Bénatru, Elisabeth Ollagnon, Sylvie Forlani, John Hardy, Giovanni Stévanin, Alexandra Dürr, Andrew Singleton, Alexis Brice
יצא לאור 2011Artigo -
20
Increased diagnostic yield in complex dystonia through exome sequencing מאת Thomas Wirth, Christine Tranchant, Nathalie Drouot, Boris Keren, Cyril Mignot, Laura Cif, Romain Lefaucheur, Laurence Lion‐François, Aurélie Méneret, Domitille Gras, Emmanuel Roze, Cécile Laroche, Pierre Burbaud, Stéphanie Bannier, Ouhaïd Lagha‐Boukbiza, Marie‐Aude Spitz, Vincent Laugel, Matthieu Béreau, Emmanuelle Ollivier, Patrick Nitschké, Diane Doummar, Gabrielle Rudolf, Mathieu Anheim, Jamel Chelly
יצא לאור 2020Artigo
כלי חיפוש:
נושאים קשורים
Biology
Medicine
Genetics
Gene
Internal medicine
Disease
Neuroscience
Ataxia
Phenotype
Pathology
Cerebellar ataxia
Mutation
Psychiatry
Parkinson's disease
Allele
Dystonia
Pediatrics
Psychology
Genotype
Spinocerebellar ataxia
Cohort
Missense mutation
Parkinsonism
Population
Botany
Demography
Endocrinology
Gastroenterology
Movement disorders
Mutant