Expanding the phenotypic variability of MORC2 gene mutations: From Charcot‐Marie‐Tooth disease to late‐onset pure motor neuropathy
Jacquier, Arnaud, Ribault, Shams, Mendes, Michel, Lacoste, Nicolas, Risson, Valérie, Carras, Julien, Latour, Philippe, Nadaj‐Pakleza, Aleksandra, Stojkovic, Tanya, Schaeffer, Laurent
Published in Human mutation (01.12.2022)
Published in Human mutation (01.12.2022)
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Refining Incidence and Characteristics of Inflammatory Myopathies: A Quadruple-Source Capture-Recapture Survey Using the 2017 European League Against Rheumatism/American College of Rheumatology Classification Criteria
Debrut, Léa, Giannini, Margherita, Klein, Delphine, Spielmann, Lionel, Mertz, Philippe, Martin, Thierry, Nadaj-Pakleza, Aleksandra, Hirschi, Sandrine, Nespola, Benoit, Lannes, Béatrice, Terzic, Joëlle, Hinschberger, Olivier, Dervieux, Benjamin, Lipsker, Dan, Arnaud, Laurent, Gottenberg, Jacques-Eric, Kleinmann, Jean François, Geny, Bernard, Séverac, François, Velten, Michel, Sibilia, Jean, Meyer, Alain
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.10.2023)
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.10.2023)
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No effect of resveratrol on fatty acid oxidation or exercise capacity in patients with fatty acid oxidation disorders: A randomized clinical cross‐over trial
Storgaard, Jesper H., Løkken, Nicoline, Madsen, Karen L., Voermans, Nicol C., Laforêt, Pascal, Nadaj‐Pakleza, Aleksandra, Tard, Céline, Hall, Gerrit, Vissing, John, Ørngreen, Mette C.
Published in Journal of inherited metabolic disease (01.05.2022)
Published in Journal of inherited metabolic disease (01.05.2022)
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Long‐term prognosis of fatty‐acid oxidation disorders in adults: Optimism despite the limited effective therapies available
Rouyer, Alice, Tard, Céline, Dessein, Anne‐Frédérique, Spinazzi, Marco, Bédat‐Millet, Anne‐Laure, Dimitri‐Boulos, Dalia, Nadaj‐Pakleza, Aleksandra, Chanson, Jean‐Baptiste, Nicolas, Guillaume, Douillard, Claire, Laforêt, Pascal
Published in European journal of neurology (01.02.2024)
Published in European journal of neurology (01.02.2024)
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Clinical and electrophysiological characteristics of women with X-linked Charcot-Marie-Tooth disease
Barbat du Closel, Luce, Bonello-Palot, Nathalie, Péréon, Yann, Echaniz-Laguna, Andoni, Camdessanche, Jean Philippe, Nadaj-Pakleza, Aleksandra, Chanson, Jean-Baptiste, Frachet, Simon, Magy, Laurent, Cassereau, Julien, Cintas, Pascal, Choumert, Ariane, Devic, Perrine, Leonard Louis, Sarah, Gravier Dumonceau, Robinson, Delmont, Emilien, Salort-Campana, Emmanuelle, Bouhour, Françoise, Latour, Philippe, Stojkovic, Tanya, Attarian, Shahram
Published in European journal of neurology (01.10.2023)
Published in European journal of neurology (01.10.2023)
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SORD‐related peripheral neuropathy in a French and Swiss cohort: Clinical features, genetic analyses, and sorbitol dosages
Pons, Nicolas, Fernández‐Eulate, Gorka, Pegat, Antoine, Théaudin, Marie, Guieu, Régis, Ripellino, Paolo, Devedjian, Manon, Mace, Patrick, Masingue, Marion, Léonard‐Louis, Sarah, Petiot, Philipe, Roche, Pauline, Bernard, Emilien, Bouhour, Françoise, Good, Jean‐Marc, Verschueren, Annie, Grapperon, Aude‐Marie, Salort, Emmanuelle, Grosset, Anaïs, Chanson, Jean‐Baptiste, Nadaj‐Pakleza, Aleksandra, Bédat‐Millet, Anne‐Laure, Choumert, Ariane, Barnier, Anne, Hamdi, Ghassen, Lesca, Gaëtan, Prieur, Fabienne, Bruneel, Arnaud, Latour, Philippe, Stojkovic, Tanya, Attarian, Shahram, Bonello‐Palot, Nathalie
Published in European journal of neurology (01.07.2023)
Published in European journal of neurology (01.07.2023)
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Deep phenotyping of an international series of patients with late‐onset dysferlinopathy
Fernández‐Eulate, Gorka, Querin, Giorgia, Moore, Ursula, Behin, Anthony, Masingue, Marion, Bassez, Guillaume, Leonard‐Louis, Sarah, Laforêt, Pascal, Maisonobe, Thierry, Merle, Philippe‐Edouard, Spinazzi, Marco, Solé, Guilhem, Kuntzer, Thierry, Bedat‐Millet, Anne‐Laure, Salort‐Campana, Emmanuelle, Attarian, Shahram, Péréon, Yann, Feasson, Leonard, Graveleau, Julie, Nadaj‐Pakleza, Aleksandra, Leturcq, France, Gorokhova, Svetlana, Krahn, Martin, Eymard, Bruno, Straub, Volker, Evangelista, Teresinha, Stojkovic, Tanya
Published in European journal of neurology (01.06.2021)
Published in European journal of neurology (01.06.2021)
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Journal Article
Permanent muscle weakness in MCArdle disease
Nadaj-Pakleza, Aleksandra A., Vincitorio, Carlo M., Laforêt, Pascal, Eymard, Bruno, Dion, Elisabeth, Teijeira, Susana, Vietez, Irene, Jeanpierre, Marc, Navarro, Carmen, Stojkovic, Tanya
Published in Muscle & nerve (01.09.2009)
Published in Muscle & nerve (01.09.2009)
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A rise in cases of nitrous oxide abuse: neurological complications and biological findings
Einsiedler, Maximilian, Voulleminot, Paul, Demuth, Stanislas, Kalaaji, Pauline, Bogdan, Thomas, Gauer, Lucas, Reschwein, Cécile, Nadaj-Pakleza, Aleksandra, de Sèze, Jérôme, Kremer, Laurent, Schroder, Ivana, Bigaut, Kévin
Published in Journal of neurology (01.02.2022)
Published in Journal of neurology (01.02.2022)
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Journal Article
Impact of Coronavirus Disease 2019 in a French Cohort of Myasthenia Gravis
Solé, Guilhem, Mathis, Stéphane, Friedman, Diane, Salort-Campana, Emmanuelle, Tard, Céline, Bouhour, Françoise, Magot, Armelle, Annane, Djillali, Clair, Bernard, Le Masson, Gwendal, Soulages, Antoine, Duval, Fanny, Carla, Louis, Violleau, Marie-Hélène, Saulnier, Tiphaine, Segovia-Kueny, Sandrine, Kern, Léa, Antoine, Jean-Christophe, Beaudonnet, Guillemette, Audic, Frédérique, Kremer, Laurent, Chanson, Jean-Baptiste, Nadaj-Pakleza, Aleksandra, Stojkovic, Tanya, Cintas, Pascal, Spinazzi, Marco, Foubert-Samier, Alexandra, Attarian, Shahram
Published in Neurology (20.04.2021)
Published in Neurology (20.04.2021)
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Comparison of Corticosteroid Tapering Regimens in Myasthenia Gravis: A Randomized Clinical Trial
Sharshar, Tarek, Porcher, Raphaël, Demeret, Sophie, Tranchant, Christine, Gueguen, Antoine, Eymard, Bruno, Nadaj-Pakleza, Aleksandra, Spinazzi, Marco, Grimaldi, Lamiae, Birnbaum, Simone, Friedman, Diane, Clair, Bernard
Published in Archives of neurology (Chicago) (01.04.2021)
Published in Archives of neurology (Chicago) (01.04.2021)
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Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study
Dogan, Celine, De Antonio, Marie, Hamroun, Dalil, Varet, Hugo, Fabbro, Marianne, Rougier, Felix, Amarof, Khadija, Arne Bes, Marie-Christine, Bedat-Millet, Anne-Laure, Behin, Anthony, Bellance, Remi, Bouhour, Françoise, Boutte, Celia, Boyer, François, Campana-Salort, Emmanuelle, Chapon, Françoise, Cintas, Pascal, Desnuelle, Claude, Deschamps, Romain, Drouin-Garraud, Valerie, Ferrer, Xavier, Gervais-Bernard, Helene, Ghorab, Karima, Laforet, Pascal, Magot, Armelle, Magy, Laurent, Menard, Dominique, Minot, Marie-Christine, Nadaj-Pakleza, Aleksandra, Pellieux, Sybille, Pereon, Yann, Preudhomme, Marguerite, Pouget, Jean, Sacconi, Sabrina, Sole, Guilhem, Stojkovich, Tanya, Tiffreau, Vincent, Urtizberea, Andoni, Vial, Christophe, Zagnoli, Fabien, Caranhac, Gilbert, Bourlier, Claude, Riviere, Gerard, Geille, Alain, Gherardi, Romain K, Eymard, Bruno, Puymirat, Jack, Katsahian, Sandrine, Bassez, Guillaume
Published in PloS one (05.02.2016)
Published in PloS one (05.02.2016)
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Genotype–phenotype correlations in valosin-containing protein disease: a retrospective muticentre study
Ikenaga, Chiseko, Caballero-Ávila, Marta, Nishino, Ichizo, Zanoteli, Edmar, Souza, Paulo Victor Sgobbi, Tasca, Giorgio, Lopez-de Munain, Adolfo, De Bleecker, Jan, Alonso-Jiménez, Alicia, Miralles, Francesc, Bevilacqua, Jorge Alfredo, Olivé, Montse, Vorgerd, Matthias, Kley, Rudi, Domínguez-González, Cristina, Claeys, Kristl G, de Visser, Marianne, Malfatti, Edoardo, Alfano, Lindsay N, Nair, Sruthi S, Manousakis, Georgios, Kushlaf, Hani A, Harms, Matthew B, Nance, Christopher, Ramos-Fransi, Alba, Rodolico, Carmelo, Quinn, Colin, Peric, Stojan, Luo, Sushan, Oldfors, Anders, Weihl, Conrad, Diaz-Manera, Jordi, Munain, Adolfo López de, Nadaj-Pakleza, Aleksandra, Alonso-Jiménez, Alicia, Martinez-Piñeiro, Alicia, Oldfors, Anders, Kostera-Pruszczyk, Anna, Rydelius, Anna, Behin, Anthony, Laín, Aurelio Hernández, Lannes, Beatrice, Schoser, Benedikt, Kierdaszuk, Biruta, Eymard, Bruno, Cazcarra, Carla Marco, Paradas, Carmen, Hedberg-Oldfors, Carola, Nance, Christopher, Papadopoulos, Constantinos, Metay, Corinne, Zanotelli, Edmar, Pegoraro, Elena, Harrington, Elizabeth A., Gelpi, Ellen, Rivas, Eloy, Pál, Endre, Papadimas, George K, Sorarù, Gianni, Tasca, Giorgio, Cetin, Hakan, Nishino, Ichizo, François, Jean, Lin, Jie, Shin, Jin-Hong, Warman, Jodi, Palmio, Johanna, Díaz-Manera, Jordi, Pérez, Jorge Alonso, Díaz, Jorge, Vilchez, Juan J, Hadzsiev, Kinga, Claeys, Kristl G, Bello, Luca, Caballero-Ávila, Marta, Harms, Matthew B, Monforte, Mauro, James, Meredith, Guglieri, Michela, Inoue, Michio, Garcia-Angarita, Natalia, Earle, Nicholas, Rihard, Pascale, Riguzzi, Pietro, Camaño, Pilar, Villar-Quiles, Rocío Nur, Alvarez, Rodrigo, Krause, Sabine, Souvannanorath, Sarah, Nair, Sruthi S, Peric, Stojan, Evangelista, Teresinha, Lloyd, Thomas E, Williams, Timothy, Kimonis, Virginia, Straub, Volker, Ridder, Willem de, Saito, Yoshihiko, Park, Young-Eun, Sahenk, Zarife
Published in Journal of neurology, neurosurgery and psychiatry (01.10.2022)
Published in Journal of neurology, neurosurgery and psychiatry (01.10.2022)
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Biallelic RFC1-expansion in a French multicentric sporadic ataxia cohort
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
Published in Journal of neurology (01.09.2021)
Published in Journal of neurology (01.09.2021)
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Journal Article
Expanded phenotypic spectrum of the m.8344A>G “MERRF” mutation: data from the German mitoNET registry
Altmann, Judith, Büchner, Boriana, Nadaj-Pakleza, Aleksandra, Schäfer, Jochen, Jackson, Sandra, Lehmann, Diana, Deschauer, Marcus, Kopajtich, Robert, Lautenschläger, Ronald, Kuhn, Klaus A., Karle, Kathrin, Schöls, Ludger, Schulz, Jörg B., Weis, Joachim, Prokisch, Holger, Kornblum, Cornelia, Claeys, Kristl G., Klopstock, Thomas
Published in Journal of neurology (01.05.2016)
Published in Journal of neurology (01.05.2016)
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Journal Article
Characteristics of Patients With Late Onset Pompe Disease in France: Insights From the French Pompe Registry in 2022
Lefeuvre, Claire, Antonio, Marie DE, Bouhour, Francoise, Tard, Celine, Salort-Campana, Emmanuelle, Lagrange, Emmeline, Behin, Anthony, Sole, Guilhem, Noury, Jean-Baptiste, Sacconi, Sabrina, Magot, Armelle, Nadaj-Pakleza, Aleksandra, Lacour, Arnaud, Beltran, Stephane, Spinazzi, Marco, Cintas, Pascal, Renard, Dimitri, Michaud, Maud, Bedat-Millet, Anne-Laure, Prigent, Helene, Taouagh, Nadjib, Arrassi, Azzeddine, Hamroun, Dalil, Attarian, Shahram, Laforêt, Pascal
Published in Neurology (29.08.2023)
Published in Neurology (29.08.2023)
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Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases
Schnitzler, Lukas J, Schreckenbach, Tobias, Nadaj-Pakleza, Aleksandra, Stenzel, Werner, Rushing, Elisabeth J, Van Damme, Philip, Ferbert, Andreas, Petri, Susanne, Hartmann, Christian, Bornemann, Antje, Meisel, Andreas, Petersen, Jens A, Tousseyn, Thomas, Thal, Dietmar R, Reimann, Jens, De Jonghe, Peter, Martin, Jean-Jacques, Van den Bergh, Peter Y, Schulz, Jörg B, Weis, Joachim, Claeys, Kristl G
Published in Orphanet journal of rare diseases (11.05.2017)
Published in Orphanet journal of rare diseases (11.05.2017)
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Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis
Esteller, Diana, Schiava, Marianela, Verdú-Díaz, José, Villar-Quiles, Rocío-Nur, Dibowski, Boris, Venturelli, Nadia, Laforet, Pascal, Alonso-Pérez, Jorge, Olive, Montse, Domínguez-González, Cristina, Paradas, Carmen, Vélez, Beatriz, Kostera-Pruszczyk, Anna, Kierdaszuk, Biruta, Rodolico, Carmelo, Claeys, Kristl, Pál, Endre, Malfatti, Edoardo, Souvannanorath, Sarah, Alonso-Jiménez, Alicia, de Ridder, Willem, De Smet, Eline, Papadimas, George, Papadopoulos, Constantinos, Xirou, Sofia, Luo, Sushan, Muelas, Nuria, Vilchez, Juan J., Ramos-Fransi, Alba, Monforte, Mauro, Tasca, Giorgio, Udd, Bjarne, Palmio, Johanna, Sri, Srtuhi, Krause, Sabine, Schoser, Benedikt, Fernández-Torrón, Roberto, López de Munain, Adolfo, Pegoraro, Elena, Farrugia, Maria Elena, Vorgerd, Mathias, Manousakis, Georgious, Chanson, Jean Baptiste, Nadaj-Pakleza, Aleksandra, Cetin, Hakan, Badrising, Umesh, Warman-Chardon, Jodi, Bevilacqua, Jorge, Earle, Nicholas, Campero, Mario, Díaz, Jorge, Ikenaga, Chiseko, Lloyd, Thomas E., Nishino, Ichizo, Nishimori, Yukako, Saito, Yoshihiko, Oya, Yasushi, Takahashi, Yoshiaki, Nishikawa, Atsuko, Sasaki, Ryo, Marini-Bettolo, Chiara, Guglieri, Michela, Straub, Volker, Stojkovic, Tanya, Carlier, Robert Y., Díaz-Manera, Jordi
Published in Journal of neurology (01.12.2023)
Published in Journal of neurology (01.12.2023)
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Long‐term benefit of enzyme replacement therapy with alglucosidase alfa in adults with Pompe disease: Prospective analysis from the French Pompe Registry
Semplicini, Claudio, De Antonio, Marie, Taouagh, Nadjib, Béhin, Anthony, Bouhour, Françoise, Echaniz‐Laguna, Andoni, Magot, Armelle, Nadaj‐Pakleza, Aleksandra, Orlikowski, David, Sacconi, Sabrina, Salort‐Campana, Emmanuelle, Solé, Guilhem, Tard, Céline, Zagnoli, Fabien, Hogrel, Jean‐Yves, Hamroun, Dalil, Laforêt, Pascal
Published in Journal of inherited metabolic disease (01.11.2020)
Published in Journal of inherited metabolic disease (01.11.2020)
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