Deletion of Murine SMN Exon 7 Directed to Skeletal Muscle Leads to Severe Muscular Dystrophy

por Cifuentes-Diaz, Carmen, Frugier, Tony, Tiziano, Francesco D., Lacène, Emmanuelle, Roblot, Natacha, Joshi, Vandana, Moreau, Marie Helene, Melki, Judith
Publicado 2001

KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal Twins

por Marchionni, Enrica, Méneret, Aurélie, Keren, Boris, Melki, Judith, Denier, Christian, Durr, Alexandra, Apartis, Emmanuelle, Boespflug-Tanguy, Odile, Mochel, Fanny
Publicado 2019

Biallelic NPR1 loss of function variants are responsible for neonatal systemic hypertension

por Capri, Yline, Kwon, Theresa, Boyer, Olivia, Bourmance, Lucas, Testa, Noe, Baudouin, Véronique, Bonnefoy, Ronan, Couderc, Anne, Meziane, Chakib, Tournier-Lasserve, Elisabeth, Heidet, Laurence, Melki, Judith
Publicado 2023

De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypes

por Jaber, Dana, Gitiaux, Cyril, Blesson, Sophie, Marguet, Florent, Buard, David, Varela Salgado, Maritzaida, Kaminska, Anna, Saada, Julien, Fallet-Bianco, Catherine, Martinovic, Jelena, Laquerriere, Annie, Melki, Judith
Publicado 2021

Microtubule-targeting drugs rescue axonal swellings in cortical neurons from spastin knockout mice

por Fassier, Coralie, Tarrade, Anne, Peris, Leticia, Courageot, Sabrina, Mailly, Philippe, Dalard, Cécile, Delga, Stéphanie, Roblot, Natacha, Lefèvre, Julien, Job, Didier, Hazan, Jamilé, Curmi, Patrick A., Melki, Judith
Publicado 2013

Intact satellite cells lead to remarkable protection against Smn gene defect in differentiated skeletal muscle

por Nicole, Sophie, Desforges, Benedicte, Millet, Gaelle, Lesbordes, Jeanne, Cifuentes-Diaz, Carmen, Vertes, Dora, Cao, My Linh, De Backer, Fabienne, Languille, Laetitia, Roblot, Natacha, Joshi, Vandana, Gillis, Jean-Marie, Melki, Judith
Publicado 2003

Arteriovenous Cerebral High Flow Shunts in Children: From Genotype to Phenotype

por Tas, Berivan, Starnoni, Daniele, Smajda, Stanislas, Vivanti, Alexandre J., Adamsbaum, Catherine, Eyries, Mélanie, Melki, Judith, Tawk, Marcel, Ozanne, Augustin, Revencu, Nicole, Soubrier, Florent, Siala, Selima, Vikkula, Miikka, Deiva, Kumaran, Saliou, Guillaume
Publicado 2022

YB-1 promotes microtubule assembly in vitro through interaction with tubulin and microtubules

por Chernov, Konstantin G, Mechulam, Alain, Popova, Nadezhda V, Pastre, David, Nadezhdina, Elena S, Skabkina, Olga V, Shanina, Nina A, Vasiliev, Victor D, Tarrade, Anne, Melki, Judith, Joshi, Vandana, Baconnais, Sonia, Toma, Flavio, Ovchinnikov, Lev P, Curmi, Patrick A
Publicado 2008

Mapping of Gene Expression Reveals CYP27A1 as a Susceptibility Gene for Sporadic ALS

por Diekstra, Frank P., Saris, Christiaan G. J., van Rheenen, Wouter, Franke, Lude, Jansen, Ritsert C., van Es, Michael A., van Vught, Paul W. J., Blauw, Hylke M., Groen, Ewout J. N., Horvath, Steve, Estrada, Karol, Rivadeneira, Fernando, Hofman, Albert, Uitterlinden, Andre G., Robberecht, Wim, Andersen, Peter M., Melki, Judith, Meininger, Vincent, Hardiman, Orla, Landers, John E., Brown, Robert H., Shatunov, Aleksey, Shaw, Christopher E., Leigh, P. Nigel, Al-Chalabi, Ammar, Ophoff, Roel A., van den Berg, Leonard H., Veldink, Jan H.
Publicado 2012

Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study

por Shatunov, Aleksey, Mok, Kin, Newhouse, Stephen, Weale, Michael E, Smith, Bradley, Vance, Caroline, Johnson, Lauren, Veldink, Jan H, van Es, Michael A, van den Berg, Leonard H, Robberecht, Wim, Van Damme, Philip, Hardiman, Orla, Farmer, Anne E, Lewis, Cathryn M, Butler, Amy W, Abel, Olubunmi, Andersen, Peter M, Fogh, Isabella, Silani, Vincenzo, Chiò, Adriano, Traynor, Bryan J, Melki, Judith, Meininger, Vincent, Landers, John E, McGuffin, Peter, Glass, Jonathan D, Pall, Hardev, Leigh, P Nigel, Hardy, John, Brown, Robert H, Powell, John F, Orrell, Richard W, Morrison, Karen E, Shaw, Pamela J, Shaw, Christopher E, Al-Chalabi, Ammar
Publicado 2010

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

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

por Saffari, Afshin, Lau, Tracy, Tajsharghi, Homa, Karimiani, Ehsan Ghayoor, Kariminejad, Ariana, Efthymiou, Stephanie, Zifarelli, Giovanni, Sultan, Tipu, Toosi, Mehran Beiraghi, Sedighzadeh, Sahar, Siu, Victoria Mok, Ortigoza-Escobar, Juan Darío, AlShamsi, Aisha M, Ibrahim, Shahnaz, Al-Sannaa, Nouriya Abbas, Al-Hertani, Walla, Sandra, Whalen, Tarnopolsky, Mark, Alavi, Shahryar, Li, Chumei, Day-Salvatore, Debra-Lynn, Martínez-González, Maria Jesús, Levandoski, Kristin M, Bedoukian, Emma, Madan-Khetarpal, Suneeta, Idleburg, Michaela J, Menezes, Minal Juliet, Siddharth, Aishwarya, Platzer, Konrad, Oppermann, Henry, Smitka, Martin, Collins, Felicity, Lek, Monkol, Shahrooei, Mohmmad, Ghavideldarestani, Maryam, Herman, Isabella, Rendu, John, Faure, Julien, Baker, Janice, Bhambhani, Vikas, Calderwood, Laurel, Akhondian, Javad, Imannezhad, Shima, Mirzadeh, Hanieh Sadat, Hashemi, Narges, Doosti, Mohammad, Safi, Mojtaba, Ahangari, Najmeh, Torbati, Paria Najarzadeh, Abedini, Soheila, Salpietro, Vincenzo, Gulec, Elif Yilmaz, Eshaghian, Safieh, Ghazavi, Mohammadreza, Pascher, Michael T, Vogel, Marina, Abicht, Angela, Moutton, Sébastien, Bruel, Ange-Line, Rieubland, Claudine, Gallati, Sabina, Strom, Tim M, Lochmüller, Hanns, Mohammadi, Mohammad Hasan, Alvi, Javeria Raza, Zackai, Elaine H, Keena, Beth A, Skraban, Cara M, Berger, Seth I, Andrew, Erin H, Rahimian, Elham, Morrow, Michelle M, Wentzensen, Ingrid M, Millan, Francisca, Henderson, Lindsay B, Dafsari, Hormos Salimi, Jungbluth, Heinz, Gomez-Ospina, Natalia, McRae, Anne, Peter, Merlene, Veltra, Danai, Marinakis, Nikolaos M, Sofocleous, Christalena, Ashrafzadeh, Farah, Pehlivan, Davut, Lemke, Johannes R, Melki, Judith, Benezit, Audrey, Bauer, Peter, Weis, Denisa, Lupski, James R, Senderek, Jan, Christodoulou, John, Chung, Wendy K, Goodchild, Rose, Offiah, Amaka C, Moreno-De-Luca, Andres, Suri, Mohnish, Ebrahimi-Fakhari, Darius, Houlden, Henry, Maroofian, Reza
Publicado 2023