The P42 peptide and Peptide-based therapies for Huntington’s disease

por Marelli, Cecilia, Maschat, Florence
Publicado 2016

ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia

por Marelli, Cecilia, Hamel, Christian, Quiles, Melanie, Carlander, Bertrand, Larrieu, Lise, Delettre, Cecile, Sarzi, Emmanuelle, Chretien, Dominique, Rustin, Pierre, Koenig, Michel, Guissart, Claire
Publicado 2018

Survival and severity in dominant cerebellar ataxias

por Monin, Marie-Lorraine, Tezenas du Montcel, Sophie, Marelli, Cecilia, Cazeneuve, Cecile, Charles, Perrine, Tallaksen, Chantal, Forlani, Sylvie, Stevanin, Giovanni, Brice, Alexis, Durr, Alexandra
Publicado 2015

Late-onset behavioral variant of frontotemporal lobar degeneration versus Alzheimer's disease: Interest of cerebrospinal fluid biomarker ratios

por Marelli, Cecilia, Gutierrez, Laure-Anne, Menjot de Champfleur, Nicolas, Charroud, Celine, De Verbizier, Delphine, Touchon, Jacques, Douillet, Patrice, Berr, Claudine, Lehmann, Sylvain, Gabelle, Audrey
Publicado 2015

Excessive Sleepiness and Longer Nighttime in Bed Increase the Risk of Cognitive Decline in Frail Elderly Subjects: The MAPT-Sleep Study

por Gabelle, Audrey, Gutierrez, Laure-Anne, Jaussent, Isabelle, Navucet, Sophie, Grasselli, Caroline, Bennys, Karim, Marelli, Cécilia, David, Renaud, Andrieu, Sandrine, Berr, Claudine, Vellas, Bruno, Dauvilliers, Yves
Publicado 2017

Infantile‐onset parkinsonism, dyskinesia, and developmental delay: do not forget polyglutamine defects!

por Baide‐Mairena, Heidy, Coget, Arthur, Leboucq, Nicolas, Procaccio, Vincent, Blanluet, Maud, Meyer, Pierre, Malinge, Marie‐Claire, François‐Heude, Marie‐Céline, Moreno, Mathis, Geneviève, David, Marelli, Cecilia, Roubertie, Agathe
Publicado 2023

Very long‐term outcomes in 23 patients with cblA type methylmalonic acidemia

por Marelli, Cecilia, Fouilhoux, Alain, Benoist, Jean‐Francois, De Lonlay, Pascale, Guffon‐Fouilhoux, Nathalie, Brassier, Anais, Cano, Aline, Chabrol, Brigitte, Pennisi, Alessandra, Schiff, Manuel, Acquaviva, Cecile, Murphy, Elaine, Servais, Aude, Lachmann, Robin
Publicado 2022

Pregnancy in MNGIE: a clinical and metabolic honeymoon

por Pappalardo, Pauline, Benoist, Jean‐François, Bax, Bridget E., Carra‐Dallière, Clarisse, Marelli, Cecilia, Levene, Michele, Begue, Laetitia, Rolland, Anne, Flori, Nicolas, Rivier, François, Blanchet, Catherine, Munnich, Arnold, Altwegg, Romain, Meyer, Pierre, Roubertie, Agathe
Publicado 2020

AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation?

por Roubertie, Agathe, Hieu, Nelson, Roux, Charles-Joris, Leboucq, Nicolas, Manes, Gael, Charif, Majida, Echenne, Bernard, Goizet, Cyril, Guissart, Claire, Meyer, Pierre, Marelli, Cecilia, Rivier, François, Burglen, Lydie, Horvath, Rita, Hamel, Christian P., Lenaers, Guy
Publicado 2018

Absence of Relationship Between Self-Reported Sleep Measures and Amyloid Load in Elderly Subjects

por Gabelle, Audrey, Gutierrez, Laure-Anne, Jaussent, Isabelle, Ben Bouallegue, Fayçal, De Verbizier, Delphine, Navucet, Sophie, Grasselli, Caroline, Bennys, Karim, Marelli, Cécilia, David, Renaud, Mariano-Goulart, Denis, Andrieu, Sandrine, Vellas, Bruno, Payoux, Pierre, Berr, Claudine, Dauvilliers, Yves
Publicado 2019

Cerebrospinal fluid A beta 1–40 peptides increase in Alzheimer’s disease and are highly correlated with phospho-tau in control individuals

por Lehmann, Sylvain, Dumurgier, Julien, Ayrignac, Xavier, Marelli, Cecilia, Alcolea, Daniel, Ormaechea, Juan Fortea, Thouvenot, Eric, Delaby, Constance, Hirtz, Christophe, Vialaret, Jérôme, Ginestet, Nelly, Bouaziz-Amar, Elodie, Laplanche, Jean-Louis, Labauge, Pierre, Paquet, Claire, Lleo, Alberto, Gabelle, Audrey
Publicado 2020

A Genome-Scale DNA Repair RNAi Screen Identifies SPG48 as a Novel Gene Associated with Hereditary Spastic Paraplegia

por Słabicki, Mikołaj, Theis, Mirko, Krastev, Dragomir B., Samsonov, Sergey, Mundwiller, Emeline, Junqueira, Magno, Paszkowski-Rogacz, Maciej, Teyra, Joan, Heninger, Anne-Kristin, Poser, Ina, Prieur, Fabienne, Truchetto, Jérémy, Confavreux, Christian, Marelli, Cécilia, Durr, Alexandra, Camdessanche, Jean Philippe, Brice, Alexis, Shevchenko, Andrej, Pisabarro, M. Teresa, Stevanin, Giovanni, Buchholz, Frank
Publicado 2010

Three-Country Snapshot of Ornithine Transcarbamylase Deficiency

por Seker Yilmaz, Berna, Baruteau, Julien, Arslan, Nur, Aydin, Halil Ibrahim, Barth, Magalie, Bozaci, Ayse Ergul, Brassier, Anais, Canda, Ebru, Cano, Aline, Chronopoulou, Efstathia, Connolly, Grainne M., Damaj, Lena, Dawson, Charlotte, Dobbelaere, Dries, Douillard, Claire, Eminoglu, Fatma Tuba, Erdol, Sahin, Ersoy, Melike, Fang, Sherry, Feillet, François, Gokcay, Gulden, Goksoy, Emine, Gorce, Magali, Inci, Asli, Kadioglu, Banu, Kardas, Fatih, Kasapkara, Cigdem Seher, Kilic Yildirim, Gonca, Kor, Deniz, Kose, Melis, Marelli, Cecilia, Mundy, Helen, O’Sullivan, Siobhan, Ozturk Hismi, Burcu, Ramachandran, Radha, Roubertie, Agathe, Sanlilar, Mehtap, Schiff, Manuel, Sreekantam, Srividya, Stepien, Karolina M., Uzun Unal, Ozlem, Yildiz, Yilmaz, Zubarioglu, Tanyel, Gissen, Paul
Publicado 2022

Association between physical activity, growth differentiation factor 15 and bodyweight in older adults: A longitudinal mediation analysis

por Raffin, Jérémy, Rolland, Yves, Parini, Angelo, Lucas, Alexandre, Guyonnet, Sophie, Vellas, Bruno, de Souto Barreto, Philipe, Vellas, Bruno, Guyonnet, Sophie, Carrié, Isabelle, Brigitte, Lauréane, Faisant, Catherine, Lala, Françoise, Delrieu, Julien, Villars, Hélène, Combrouze, Emeline, Badufle, Carole, Zueras, Audrey, Andrieu, Sandrine, Cantet, Christelle, Morin, Christophe, Abellan Van Kan, Gabor, Dupuy, Charlotte, Rolland, Yves, Caillaud, Céline, Ousset, Pierre‐Jean, Lala, Françoise, Willis, Sherry, Belleville, Sylvie, Gilbert, Brigitte, Fontaine, Francine, Dartigues, Jean‐François, Marcet, Isabelle, Delva, Fleur, Foubert, Alexandra, Cerda, Sandrine, Cuffi, Marie Noëlle, Costes, Corinne, Rouaud, Olivier, Manckoundia, Patrick, Quipourt, Valérie, Marilier, Sophie, Franon, Evelyne, Bories, Lawrence, Pader, Marie‐Laure, Basset, Marie‐France, Lapoujade, Bruno, Faure, Valérie, Li Yung Tong, Michael, Malick‐Loiseau, Christine, Cazaban‐Campistron, Evelyne, Desclaux, Françoise, Blatge, Colette, Dantoine, Thierry, Laubarie‐Mouret, Cécile, Saulnier, Isabelle, Clément, Jean‐Pierre, Picat, Marie‐Agnès, Bernard‐Bourzeix, Laurence, Willebois, Stéphanie, Désormais, Iléana, Cardinaud, Noëlle, Bonnefoy, Marc, Livet, Pierre, Rebaudet, Pascale, Gédéon, Claire, Burdet, Catherine, Terracol, Flavien, Pesce, Alain, Roth, Stéphanie, Chaillou, Sylvie, Louchart, Sandrine, Sudres, Kristel, Lebrun, Nicolas, Barro‐Belaygues, Nadège, Touchon, Jacques, Bennys, Karim, Gabelle, Audrey, Romano, Aurélia, Touati, Lynda, Marelli, Cécilia, Pays, Cécile, Robert, Philippe, Le Duff, Franck, Gervais, Claire, Gonfrier, Sébastien, Gasnier, Yannick, Bordes, Serge, Begorre, Danièle, Carpuat, Christian, Khales, Khaled, Lefebvre, Jean‐François, Misbah El Idrissi, Samira, Skolil, Pierre, Salles, Jean‐Pierre, Dufouil, Carole, Lehéricy, Stéphane, Chupin, Marie, Mangin, Jean‐François, Bouhayia, Ali, Allard, Michèle, Ricolfi, Frédéric, Dubois, Dominique, Bonceour Martel, Marie Paule, Cotton, François, Bonafé, Alain, Chanalet, Stéphane, Hugon, Françoise, Bonneville, Fabrice, Cognard, Christophe, Chollet, François, Payoux, Pierre, Voisin, Thierry, Delrieu, Julien, Peiffer, Sophie, Hitzel, Anne, Allard, Michèle, Zanca, Michel, Monteil, Jacques, Darcourt, Jacques, Molinier, Laurent, Derumeaux, Hélène, Costa, Nadège, Perret, Bertrand, Vinel, Claire, Caspar‐Bauguil, Sylvie, Olivier‐Abbal, Pascale, Andrieu, Sandrine, Cantet, Christelle, Coley, Nicola
Publicado 2023