The wide spectrum of tubulinopathies: what are the key features for the diagnosis? von BAHI-BUISSON, Nadia, POIRIER, Karine, LASCELLES, Karine, SOUVILLE, Isabelle, BELDJORD, Cherif, CHELLY, Jamel, FOURNIOL, Franck, SAILLOUR, Yoann, VALENCE, Stéphanie, LEBRUN, Nicolas, HULLY, Marie, BIANCO, Catherine Fallet, BODDAERT, Nathalie, ELIE, Caroline

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Differentially Activated Macrophages Orchestrate Myogenic Precursor Cell Fate During Human Skeletal Muscle Regeneration von Saclier, Marielle, Yacoub‐Youssef, Houda, Mackey, Abigail L., Arnold, Ludovic, Ardjoune, Hamida, Magnan, Mélanie, Sailhan, Frédéric, Chelly, Jamel, Pavlath, Grace K., Mounier, Rémi, Kjaer, Michael, Chazaud, Bénédicte

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Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical development von Romero, Delfina M., Poirier, Karine, Belvindrah, Richard, Moutkine, Imane, Houllier, Anne, LeMoing, Anne-Gaëlle, Petit, Florence, Boland, Anne, Collins, Stephan C., Soiza-Reilly, Mariano, Yalcin, Binnaz, Chelly, Jamel, Deleuze, Jean-François, Bahi-Buisson, Nadia, Francis, Fiona

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Biallelic RFC1-expansion in a French multicentric sporadic ataxia cohort von Montaut, Solveig, Diedhiou, Nadège, Fahrer, Pauline, Marelli, Cécilia, Lhermitte, Benoit, Robelin, Laura, Vincent, Marie Claire, Corti, Lucas, Taieb, Guillaume, Gebus, Odile, Rudolf, Gabrielle, Tarabeux, Julien, Dondaine, Nicolas, Canuet, Matthieu, Almeras, Marilyne, Benkirane, Mehdi, Larrieu, Lise, Chanson, Jean-Baptiste, Nadaj-Pakleza, Aleksandra, Echaniz-Laguna, Andoni, Cauquil, Cécile, Lannes, Béatrice, Chelly, Jamel, Anheim, Mathieu, Puccio, Hélène, Tranchant, Christine

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Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment von Quartier, Angélique, Courraud, Jérémie, Thi Ha, Thuong, McGillivray, George, Isidor, Bertrand, Rose, Katherine, Drouot, Nathalie, Savidan, Marie‐Armel, Feger, Claire, Jagline, Hélène, Chelly, Jamel, Shaw, Marie, Laumonnier, Frédéric, Gecz, Jozef, Mandel, Jean‐Louis, Piton, Amélie

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De novo and inherited private variants in MAP1B in periventricular nodular heterotopia von Heinzen, Erin L, O'Neill, Adam C, Zhu, Xiaolin, Allen, Andrew S, Bahlo, Melanie, Chelly, Jamel, Chen, Ming Hui, Dobyns, William B, Freytag, Saskia, Guerrini, Renzo, Leventer, Richard J, Poduri, Annapurna, Robertson, Stephen P, Walsh, Christopher A, Zhang, Mengqi

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Mutation of plasma membrane Ca²⁺ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca²⁺ homeostasis von Zanni, Ginevra, Calì, Tito, Kalscheuer, Vera M, Ottolini, Denis, Barresi, Sabina, Lebrun, Nicolas, Montecchi-Palazzi, Luisa, Hu, Hao, Chelly, Jamel, Bertini, Enrico, Brini, Marisa, Carafoli, Ernesto

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Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human von Kielar, Michel, Tuy, Françoise Phan Dinh, Bizzotto, Sara, Lebrand, Cécile, de Juan Romero, Camino, Poirier, Karine, Oegema, Renske, Mancini, Grazia Maria, Bahi-Buisson, Nadia, Olaso, Robert, Le Moing, Anne-Gaëlle, Boutourlinsky, Katia, Boucher, Dominique, Carpentier, Wassila, Berquin, Patrick, Deleuze, Jean-François, Belvindrah, Richard, Borrell, Victor, Welker, Egbert, Chelly, Jamel, Croquelois, Alexandre, Francis, Fiona

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Genetics and pathophysiology of mental retardation von CHELLY, Jamel, KHELFAOUI, Malik, FRANCIS, Fiona, CHERIF, Beldjord, BIENVENU, Thierry

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De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder von Mattioli, Francesca, Hayot, Gaelle, Drouot, Nathalie, Isidor, Bertrand, Courraud, Jérémie, Hinckelmann, Maria-Victoria, Mau-Them, Frederic Tran, Sellier, Chantal, Goldman, Alica, Telegrafi, Aida, Boughton, Alicia, Gamble, Candace, Moutton, Sebastien, Quartier, Angélique, Jean, Nolwenn, Van Ness, Paul, Grotto, Sarah, Nambot, Sophie, Douglas, Ganka, Si, Yue Cindy, Chelly, Jamel, Shad, Zohra, Kaplan, Elisabeth, Dineen, Richard, Golzio, Christelle, Charlet-Berguerand, Nicolas, Mandel, Jean-Louis, Piton, Amélie

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Mutations in the β-Tubulin Gene TUBB5 Cause Microcephaly with Structural Brain Abnormalities von Breuss, Martin, Heng, Julian Ik-Tsen, Poirier, Karine, Tian, Guoling, Jaglin, Xavier Hubert, Qu, Zhengdong, Braun, Andreas, Gstrein, Thomas, Ngo, Linh, Haas, Matilda, Bahi-Buisson, Nadia, Moutard, Marie-Laure, Passemard, Sandrine, Verloes, Alain, Gressens, Pierre, Xie, Yunli, Robson, Kathryn J.H., Rani, Deepa Selvi, Thangaraj, Kumarasamy, Clausen, Tim, Chelly, Jamel, Cowan, Nicholas Justin, Keays, David Anthony

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Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia von Doummar, Diane, Dentel, Christel, Lyautey, Romane, Metreau, Julia, Keren, Boris, Drouot, Nathalie, Malherbe, Ludivine, Bouilleret, Viviane, Courraud, Jeremie, Valenti-Hirsch, Maria Paola, Minotti, Lorella, Dozieres-Puyravel, Blandine, Baer, Severine, Scholly, Julia, Schaefer, Elise, Nava, Caroline, Wirth, Thomas, Nasser, Hala, de Salins, Marie, de Saint Martin, Anne, Warde, Marie Therese Abi, Kahane, Philippe, Hirsch, Edouard, Anheim, Mathieu, Friant, Sylvie, Chelly, Jamel, Mignot, Cyril, Rudolf, Gabrielle

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Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia von Ravel, Jean-Marie, Benkirane, Mehdi, Calmels, Nadège, Marelli, Cecilia, Ory-Magne, Fabienne, Ewenczyk, Claire, Halleb, Yosra, Tison, François, Lecocq, Claire, Pische, Guillaume, Casenave, Philippe, Chaussenot, Annabelle, Frismand, Solène, Tyvaert, Louise, Larrieu, Lise, Pointaux, Morgane, Drouot, Nathalie, Bossenmeyer-Pourié, Carine, Oussalah, Abderrahim, Guéant, Jean-Louis, Leheup, Bruno, Bonnet, Céline, Anheim, Mathieu, Tranchant, Christine, Lambert, Laëtitia, Chelly, Jamel, Koenig, Michel, Renaud, Mathilde

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Clinical heterogeneity of duchenne muscular dystrophy (DMD): definition of sub-phenotypes and predictive criteria by long-term follow-up von Desguerre, Isabelle, Christov, Christo, Mayer, Michele, Zeller, Reinhard, Becane, Henri-Marc, Bastuji-Garin, Sylvie, Leturcq, France, Chiron, Catherine, Chelly, Jamel, Gherardi, Romain K

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Ciliogenesis and cell cycle alterations contribute to KIF2A-related malformations of cortical development von Broix, Loïc, Asselin, Laure, Silva, Carla G, Ivanova, Ekaterina L, Tilly, Peggy, Gilet, Johan G, Lebrun, Nicolas, Jagline, Hélène, Muraca, Giuseppe, Saillour, Yoann, Drouot, Nathalie, Reilly, Madeline Louise, Francis, Fiona, Benmerah, Alexandre, Bahi-Buisson, Nadia, Belvindrah, Richard, Nguyen, Laurent, Godin, Juliette D, Chelly, Jamel, Hinckelmann, Maria-Victoria

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Further refinement of COL4A1 and COL4A2 related cortical malformations von Cavallin, Mara, Mine, Manuele, Philbert, Marion, Boddaert, Nathalie, Lepage, Jean Marie, Coste, Thibault, Lopez-Gonzalez, Vanessa, Sanchez-Soler, Maria Jose, Ballesta-Martínez, Maria Juliana, Remerand, Ganaëlle, Pasquier, Laurent, Guët, Agnès, Chelly, Jamel, Lascelles, Karine, Prieto-Morin, Carol, Kossorotoff, Manoelle, Tournier Lasserve, Elisabeth, Bahi-Buisson, Nadia

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First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations von Rejeb, Imen, Jilani, Houweyda, Elaribi, Yasmina, Hizem, Syrine, Hila, Lamia, Zillahrdt, Julia Lauer, Chelly, Jamel, Benjemaa, Lamia

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TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis von Ivanova, Ekaterina L., Gilet, Johan G., Sulimenko, Vadym, Duchon, Arnaud, Rudolf, Gabrielle, Runge, Karen, Collins, Stephan C., Asselin, Laure, Broix, Loic, Drouot, Nathalie, Tilly, Peggy, Nusbaum, Patrick, Vincent, Alexandre, Magnant, William, Skory, Valerie, Birling, Marie-Christine, Pavlovic, Guillaume, Godin, Juliette D., Yalcin, Binnaz, Hérault, Yann, Dráber, Pavel, Chelly, Jamel, Hinckelmann, Maria-Victoria

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Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria von Poirier, Karine, Saillour, Yoann, Fourniol, Franck, Francis, Fiona, Souville, Isabelle, Valence, Stéphanie, Desguerre, Isabelle, Marie Lepage, Jean, Boddaert, Nathalie, Line Jacquemont, Marine, Beldjord, Cherif, Chelly, Jamel, Bahi-Buisson, Nadia

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Next generation sequencing for molecular diagnosis of neuromuscular diseases von Vasli, Nasim, Böhm, Johann, Le Gras, Stéphanie, Muller, Jean, Pizot, Cécile, Jost, Bernard, Echaniz-Laguna, Andoni, Laugel, Vincent, Tranchant, Christine, Bernard, Rafaelle, Plewniak, Frédéric, Vicaire, Serge, Levy, Nicolas, Chelly, Jamel, Mandel, Jean-Louis, Biancalana, Valérie, Laporte, Jocelyn

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