Fast and reliable detection of repeat expansions in spinocerebellar ataxia using exomes
Méreaux, Jean-Loup, Davoine, Claire-Sophie, Coutelier, Marie, Guillot-Noël, Léna, Castrioto, Anna, Charles, Perrine, Coarelli, Giulia, Ewenczyk, Claire, Klebe, Stephan, Heinzmann, Anna, Méneret, Aurélie, Fauret-Amsellem, Anne-Laure, de Sainte Agathe, Jean-Madeleine, Brice, Alexis, Durr, Alexandra
Published in Journal of medical genetics (01.07.2023)
Published in Journal of medical genetics (01.07.2023)
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Journal Article
Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia
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
Published in Brain (London, England : 1878) (29.04.2022)
Published in Brain (London, England : 1878) (29.04.2022)
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Journal Article
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions
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
Published in EBioMedicine (01.01.2024)
Published in EBioMedicine (01.01.2024)
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Journal Article
Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations
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
Published in Neurogenetics (01.03.2021)
Published in Neurogenetics (01.03.2021)
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Journal Article
Bilateral facial palsy in an older person
Méreaux, Jean-Loup, Hébant, Benjamin, Magne, Nicolas, Quesney, Gérald, Lefaucheur, Romain
Published in Age and ageing (24.08.2020)
Published in Age and ageing (24.08.2020)
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Journal Article
Trigeminal Neuralgia and Charcot‐Marie‐Tooth Disease: An Intriguing Association. Lessons From a Large Family Case Report and Review of Literature
Méreaux, Jean‐Loup, Lefaucheur, Romain, Hebant, Benjamin, Guégan‐Massardier, Evelyne, Grangeon, Lou
Published in Headache (01.07.2019)
Published in Headache (01.07.2019)
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Journal Article
A case of right internal carotid agenesis with associated transcavernous anastomosis revealed by transient ischemic attack
Hebant, Benjamin, Gerardin, Emmanuel, Delpierre, Céline, Mereaux, Jean-Loup, Quesney, Gerald, Lefaucheur, Romain
Published in Surgical and radiologic anatomy (English ed.) (01.02.2020)
Published in Surgical and radiologic anatomy (English ed.) (01.02.2020)
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Journal Article
Somatic instability of the FGF14-SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum
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
Published in Brain (London, England : 1878) (08.10.2024)
Published in Brain (London, England : 1878) (08.10.2024)
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Journal Article
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)
Hocquel, Armand, Méreaux, Jean-Loup, Bonnet, Céline, Huin, Vincent, Hadjivassiliou, Mario, Pellerin, David, Renaud, Mathilde
Published in Revue neurologique (01.04.2024)
Published in Revue neurologique (01.04.2024)
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Journal Article
SCA27B/FGF14 : une ataxie peut en cacher une autre
Méreaux, Jean-Loup, Davoine, Claire-Sophie, Pellerin, David, Coarelli, Giulia, Renaud, Mathilde, Brice, Alexis, Dürr, Alexandra
Published in Revue neurologique (01.04.2024)
Published in Revue neurologique (01.04.2024)
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Journal Article
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansionsResearch in context
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
Published in EBioMedicine (01.01.2024)
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Published in EBioMedicine (01.01.2024)
Journal Article
Intérêt d’un panel de gènes de paraparésies spastiques héréditaires
Méreaux, Jean-Loup, Banneau, Guillaume, Papin, Mélanie, Brice, Alexis, Durr, Alexandra, Le Guern, Eric, Stevanin, Giovanni
Published in Revue neurologique (01.04.2021)
Published in Revue neurologique (01.04.2021)
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Journal Article
Somatic instability of the FGF14 -SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum
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
Published in medRxiv : the preprint server for health sciences (03.07.2024)
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Published in medRxiv : the preprint server for health sciences (03.07.2024)
Journal Article