Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia von Méreaux, Jean-Loup, Banneau, Guillaume, Papin, Mélanie, Coarelli, Giulia, Valter, Rémi, Raymond, Laure, Kol, Bophara, Ariste, Olivier, Parodi, Livia, Tissier, Laurène, Mairey, Mathilde, Ait Said, Samia, Gautier, Celia, Guillaud-Bataille, Marine, Forlani, Sylvie, de la Grange, Pierre, Brice, Alexis, Vazza, Giovanni, Durr, Alexandra, Leguern, Eric, Stevanin, Giovanni

Volltext

Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations von Méreaux, Jean-Loup, Firanescu, Cristina, Coarelli, Giulia, Kvarnung, Malin, Rodrigues, Rita, Pegoraro, Elena, Tazir, Meriem, Taithe, Frédéric, Valter, Rémi, Huin, Vincent, Lidström, Kristina, Banneau, Guillaume, Morais, Sara, Parodi, Livia, Coutelier, Marie, Papin, Mélanie, Svenningsson, Per, Azulay, Jean-Philippe, Alonso, Isabel, Nilsson, Daniel, Brice, Alexis, Le Guern, Eric, Press, Rayomand, Vazza, Giovanni, Loureiro, José Leal, Goizet, Cyril, Durr, Alexandra, Paucar, Martin, Stevanin, Giovanni

Volltext

Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions von Méreaux, Jean-Loup, Davoine, Claire-Sophie, Pellerin, David, Coarelli, Giulia, Coutelier, Marie, Ewenczyk, Claire, Monin, Marie-Lorraine, Anheim, Mathieu, Le Ber, Isabelle, Thobois, Stéphane, Gobert, Florent, Guillot-Noël, Léna, Forlani, Sylvie, Jornea, Ludmila, Heinzmann, Anna, Sangare, Aude, Gaymard, Bertrand, Guyant-Maréchal, Lucie, Charles, Perrine, Marelli, Cecilia, Honnorat, Jérôme, Degos, Bertrand, Tison, François, Sangla, Sophie, Simonetta-Moreau, Marion, Salachas, François, Tchikviladzé, Maya, Castelnovo, Giovanni, Mochel, Fanny, Klebe, Stephan, Castrioto, Anna, Fenu, Silvia, Méneret, Aurélie, Bourdain, Frédéric, Wandzel, Marion, Roth, Virginie, Bonnet, Céline, Riant, Florence, Stevanin, Giovanni, Noël, Sandrine, Fauret-Amsellem, Anne-Laure, Bahlo, Melanie, Lockhart, Paul J., Brais, Bernard, Renaud, Mathilde, Brice, Alexis, Durr, Alexandra

Volltext

Trigeminal Neuralgia and Charcot‐Marie‐Tooth Disease: An Intriguing Association. Lessons From a Large Family Case Report and Review of Literature von Méreaux, Jean‐Loup, Lefaucheur, Romain, Hebant, Benjamin, Guégan‐Massardier, Evelyne, Grangeon, Lou

Volltext

Bilateral facial palsy in an older person von Méreaux, Jean-Loup, Hébant, Benjamin, Magne, Nicolas, Quesney, Gérald, Lefaucheur, Romain

Volltext

A case of right internal carotid agenesis with associated transcavernous anastomosis revealed by transient ischemic attack von Hebant, Benjamin, Gerardin, Emmanuel, Delpierre, Céline, Mereaux, Jean-Loup, Quesney, Gerald, Lefaucheur, Romain

Volltext

Somatic instability of the FGF14-SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum von Pellerin, David, Méreaux, Jean-Loup, Boluda, Susana, Danzi, Matt C, Dicaire, Marie-Josée, Davoine, Claire-Sophie, Genis, David, Spurdens, Guinevere, Ashton, Catherine, Hammond, Jillian M, Gerhart, Brandon J, Chelban, Viorica, Le, Phuong U, Safisamghabadi, Maryam, Yanick, Christopher, Lee, Hamin, Nageshwaran, Sathiji K, Matos-Rodrigues, Gabriel, Jaunmuktane, Zane, Petrecca, Kevin, Akbarian, Schahram, Nussenzweig, André, Usdin, Karen, Renaud, Mathilde, Bonnet, Céline, Ravenscroft, Gianina, Saporta, Mario A, Napierala, Jill S, Houlden, Henry, Deveson, Ira W, Napierala, Marek, Brice, Alexis, Molina Porcel, Laura, Seilhean, Danielle, Zuchner, Stephan, Durr, Alexandra, Brais, Bernard

Volltext

Quand une ataxie à expansion peut en cacher une autre : à propos de 3 cas avec ataxie cérébelleuse tardive portant des expansions pathologiques dans RFC1 (CANVAS) et FGF14 (SCA27B)... von Hocquel, Armand, Méreaux, Jean-Loup, Bonnet, Céline, Huin, Vincent, Hadjivassiliou, Mario, Pellerin, David, Renaud, Mathilde

Volltext

SCA27B/FGF14 : une ataxie peut en cacher une autre von Méreaux, Jean-Loup, Davoine, Claire-Sophie, Pellerin, David, Coarelli, Giulia, Renaud, Mathilde, Brice, Alexis, Dürr, Alexandra

Volltext

Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansionsResearch in context von Jean-Loup Méreaux, Claire-Sophie Davoine, David Pellerin, Giulia Coarelli, Marie Coutelier, Claire Ewenczyk, Marie-Lorraine Monin, Mathieu Anheim, Isabelle Le Ber, Stéphane Thobois, Florent Gobert, Léna Guillot-Noël, Sylvie Forlani, Ludmila Jornea, Anna Heinzmann, Aude Sangare, Bertrand Gaymard, Lucie Guyant-Maréchal, Perrine Charles, Cecilia Marelli, Jérôme Honnorat, Bertrand Degos, François Tison, Sophie Sangla, Marion Simonetta-Moreau, François Salachas, Maya Tchikviladzé, Giovanni Castelnovo, Fanny Mochel, Stephan Klebe, Anna Castrioto, Silvia Fenu, Aurélie Méneret, Frédéric Bourdain, Marion Wandzel, Virginie Roth, Céline Bonnet, Florence Riant, Giovanni Stevanin, Sandrine Noël, Anne-Laure Fauret-Amsellem, Melanie Bahlo, Paul J. Lockhart, Bernard Brais, Mathilde Renaud, Alexis Brice, Alexandra Durr

Volltext

Intérêt d’un panel de gènes de paraparésies spastiques héréditaires von Méreaux, Jean-Loup, Banneau, Guillaume, Papin, Mélanie, Brice, Alexis, Durr, Alexandra, Le Guern, Eric, Stevanin, Giovanni

Volltext