Expanding the phenotypic variability of MORC2 gene mutations: From Charcot‐Marie‐Tooth disease to late‐onset pure motor neuropathy

por Jacquier, Arnaud, Ribault, Shams, Mendes, Michel, Lacoste, Nicolas, Risson, Valérie, Carras, Julien, Latour, Philippe, Nadaj‐Pakleza, Aleksandra, Stojkovic, Tanya, Schaeffer, Laurent
Publicado 2022

LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease

por Pettazzoni, Magali, Froissart, Roseline, Pagan, Cécile, Vanier, Marie T., Ruet, Séverine, Latour, Philippe, Guffon, Nathalie, Fouilhoux, Alain, Germain, Dominique P., Levade, Thierry, Vianey-Saban, Christine, Piraud, Monique, Cheillan, David
Publicado 2017

Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study

por Freihuber, Cécile, Dahmani-Rabehi, Bahia, Brassier, Anaïs, Broué, Pierre, Cances, Claude, Chabrol, Brigitte, Eyer, Didier, Labarthe, François, Latour, Philippe, Levade, Thierry, Pichard, Samia, Sevin, Caroline, Vanier, Marie T., Héron, Bénédicte
Publicado 2023

Induction of Multi-Functional T Cells in a Phase I Clinical Trial of Dendritic Cell Immunotherapy in Hepatitis C Virus Infected Individuals

por Li, Shuo, Roberts, Stuart, Plebanski, Magdalena, Gouillou, Maelenn, Spelman, Tim, Latour, Philippe, Jackson, David, Brown, Lorena, Sparrow, Rosemary L., Prince, H. Miles, Hart, Derek, Loveland, Bruce E., Gowans, Eric J.
Publicado 2012

Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C

por Héron, Bénédicte, Valayannopoulos, Vassili, Baruteau, Julien, Chabrol, Brigitte, Ogier, Hélène, Latour, Philippe, Dobbelaere, Dries, Eyer, Didier, Labarthe, François, Maurey, Hélène, Cuisset, Jean-Marie, de Villemeur, Thierry Billette, Sedel, Frédéric, Vanier, Marie T
Publicado 2012

Cryptic amyloidogenic elements in mutant NEFH causing Charcot-Marie-Tooth 2 trigger aggresome formation and neuronal death

por Jacquier, Arnaud, Delorme, Cécile, Belotti, Edwige, Juntas-Morales, Raoul, Solé, Guilhem, Dubourg, Odile, Giroux, Marianne, Maurage, Claude-Alain, Castellani, Valérie, Rebelo, Adriana, Abrams, Alexander, Züchner, Stephan, Stojkovic, Tanya, Schaeffer, Laurent, Latour, Philippe
Publicado 2017

CMT2N-causing aminoacylation domain mutants enable Nrp1 interaction with AlaRS

por Sun, Litao, Wei, Na, Kuhle, Bernhard, Blocquel, David, Novick, Scott, Matuszek, Zaneta, Zhou, Huihao, He, Weiwei, Zhang, Jingjing, Weber, Thomas, Horvath, Rita, Latour, Philippe, Pan, Tao, Schimmel, Paul, Griffin, Patrick R., Yang, Xiang-Lei
Publicado 2021

HINT1 neuropathy: Expanding the genotype and phenotype spectrum

por Morel, Victor, Campana‐Salort, Emmanuelle, Boyer, Amandine, Esselin, Florence, Walther‐Louvier, Ulrike, Querin, Giorgia, Latour, Philippe, Lia, Anne‐Sophie, Magdelaine, Corinne, Beze‐Beyrie, Pierre, Behin, Anthony, Delague, Valérie, Levy, Nicolas, Stojkovic, Tanya, Attarian, Shahram, Bonello‐Palot, Nathalie
Publicado 2022

Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy

por Jacquier, Arnaud, Theuriet, Julian, Fontaine, Fanny, Mosbach, Valentine, Lacoste, Nicolas, Ribault, Shams, Risson, Valérie, Carras, Julien, Coudert, Laurent, Simonet, Thomas, Latour, Philippe, Stojkovic, Tanya, Piard, Juliette, Cosson, Anne, Lesca, Gaëtan, Bouhour, Françoise, Allouche, Stéphane, Puccio, Hélène, Pegat, Antoine, Schaeffer, Laurent
Publicado 2022

Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update

por Patterson, Marc C., Clayton, Peter, Gissen, Paul, Anheim, Mathieu, Bauer, Peter, Bonnot, Olivier, Dardis, Andrea, Dionisi-Vici, Carlo, Klünemann, Hans-Hermann, Latour, Philippe, Lourenço, Charles M., Ory, Daniel S., Parker, Alasdair, Pocoví, Miguel, Strupp, Michael, Vanier, Marie T., Walterfang, Mark, Marquardt, Thorsten
Publicado 2017

A National French Consensus on Gene List for the Diagnosis of Charcot–Marie–Tooth Disease and Related Disorders Using Next-Generation Sequencing

por Benquey, Thibaut, Pion, Emmanuelle, Cossée, Mireille, Krahn, Martin, Stojkovic, Tanya, Perrin, Aurélien, Cerino, Mathieu, Molon, Annamaria, Lia, Anne-Sophie, Magdelaine, Corinne, Francou, Bruno, Guiochon-Mantel, Anne, Malinge, Marie-Claire, Leguern, Eric, Lévy, Nicolas, Attarian, Shahram, Latour, Philippe, Bonello-Palot, Nathalie
Publicado 2022

Niemann-Pick C Disease Gene Mutations and Age-Related Neurodegenerative Disorders

por Zech, Michael, Nübling, Georg, Castrop, Florian, Jochim, Angela, Schulte, Eva C., Mollenhauer, Brit, Lichtner, Peter, Peters, Annette, Gieger, Christian, Marquardt, Thorsten, Vanier, Marie T., Latour, Philippe, Klünemann, Hans, Trenkwalder, Claudia, Diehl-Schmid, Janine, Perneczky, Robert, Meitinger, Thomas, Oexle, Konrad, Haslinger, Bernhard, Lorenzl, Stefan, Winkelmann, Juliane
Publicado 2013

Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect

por Nadjar, Yann, Hütter-Moncada, Ana Lucia, Latour, Philippe, Ayrignac, Xavier, Kaphan, Elsa, Tranchant, Christine, Cintas, Pascal, Degardin, Adrian, Goizet, Cyril, Laurencin, Chloe, Martzolff, Lionel, Tilikete, Caroline, Anheim, Mathieu, Audoin, Bertrand, Deramecourt, Vincent, De Gaillarbois, Thierry Dubard, Roze, Emmanuel, Lamari, Foudil, Vanier, Marie T., Héron, Bénédicte
Publicado 2018

Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype

por Pipis, Menelaos, Cortese, Andrea, Polke, James M, Poh, Roy, Vandrovcova, Jana, Laura, Matilde, Skorupinska, Mariola, Jacquier, Arnaud, Juntas-Morales, Raul, Latour, Philippe, Petiot, Philippe, Sole, Guilhem, Fromes, Yves, Shah, Sachit, Blake, Julian, Choi, Byung-Ok, Chung, Ki Wha, Stojkovic, Tanya, Rossor, Alexander M, Reilly, Mary M
Publicado 2022

Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy

por Fernández-Eulate, Gorka, Theuriet, Julian, Record, Christopher J., Querin, Giorgia, Masingue, Marion, Leonard-Louis, Sarah, Behin, Anthony, Le Forestier, Nadine, Pegat, Antoine, Michaud, Maud, Chanson, Jean-Baptiste, Nadaj-Pakleza, Aleksandra, Tard, Celine, Bedat-Millet, Anne-Laure, Sole, Guilhem, Spinazzi, Marco, Salort-Campana, Emmanuelle, Echaniz-Laguna, Andoni, Poinsignon, Vianney, Latour, Philippe, Reilly, Mary M., Bouhour, Francoise, Stojkovic, Tanya
Publicado 2023

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

por Laquerriere, Annie, Jaber, Dana, Abiusi, Emanuela, Maluenda, Jérome, Mejlachowicz, Dan, Vivanti, Alexandre, Dieterich, Klaus, Stoeva, Radka, Quevarec, Loic, Nolent, Flora, Biancalana, Valerie, Latour, Philippe, Sternberg, Damien, Capri, Yline, Verloes, Alain, Bessieres, Bettina, Loeuillet, Laurence, Attie-Bitach, Tania, Martinovic, Jelena, Blesson, Sophie, Petit, Florence, Beneteau, Claire, Whalen, Sandra, Marguet, Florent, Bouligand, Jerome, Héron, Delphine, Viot, Géraldine, Amiel, Jeanne, Amram, Daniel, Bellesme, Céline, Bucourt, Martine, Faivre, Laurence, Jouk, Pierre-Simon, Khung, Suonavy, Sigaudy, Sabine, Delezoide, Anne-Lise, Goldenberg, Alice, Jacquemont, Marie-Line, Lambert, Laetitia, Layet, Valérie, Lyonnet, Stanislas, Munnich, Arnold, Van Maldergem, Lionel, Piard, Juliette, Guimiot, Fabien, Landrieu, Pierre, Letard, Pascaline, Pelluard, Fanny, Perrin, Laurence, Saint-Frison, Marie-Hélène, Topaloglu, Haluk, Trestard, Laetitia, Vincent-Delorme, Catherine, Amthor, Helge, Barnerias, Christine, Benachi, Alexandra, Bieth, Eric, Boucher, Elise, Cormier-Daire, Valerie, Delahaye-Duriez, Andrée, Desguerre, Isabelle, Eymard, Bruno, Francannet, Christine, Grotto, Sarah, Lacombe, Didier, Laffargue, Fanny, Legendre, Marine, Martin-Coignard, Dominique, Mégarbané, André, Mercier, Sandra, Nizon, Mathilde, Rigonnot, Luc, Prieur, Fabienne, Quélin, Chloé, Ranjatoelina-Randrianaivo, Hanitra, Resta, Nicoletta, Toutain, Annick, Verhelst, Helene, Vincent, Marie, Colin, Estelle, Fallet-Bianco, Catherine, Granier, Michèle, Grigorescu, Romulus, Saada, Julien, Gonzales, Marie, Guiochon-Mantel, Anne, Bessereau, Jean-Louis, Tawk, Marcel, Gut, Ivo, Gitiaux, Cyril, Melki, Judith
Publicado 2022