APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases by Lanoiselée, Hélène-Marie, Nicolas, Gaël, Wallon, David, Rovelet-Lecrux, Anne, Lacour, Morgane, Rousseau, Stéphane, Richard, Anne-Claire, Pasquier, Florence, Rollin-Sillaire, Adeline, Martinaud, Olivier, Quillard-Muraine, Muriel, de la Sayette, Vincent, Boutoleau-Bretonniere, Claire, Etcharry-Bouyx, Frédérique, Chauviré, Valérie, Sarazin, Marie, le Ber, Isabelle, Epelbaum, Stéphane, Jonveaux, Thérèse, Rouaud, Olivier, Ceccaldi, Mathieu, Félician, Olivier, Godefroy, Olivier, Formaglio, Maite, Croisile, Bernard, Auriacombe, Sophie, Chamard, Ludivine, Vincent, Jean-Louis, Sauvée, Mathilde, Marelli-Tosi, Cecilia, Gabelle, Audrey, Ozsancak, Canan, Pariente, Jérémie, Paquet, Claire, Hannequin, Didier, Campion, Dominique

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

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The E3 Ubiquitin Ligases TRIM17 and TRIM41 Modulate α-Synuclein Expression by Regulating ZSCAN21 by Lassot, Iréna, Mora, Stéphan, Lesage, Suzanne, Zieba, Barbara A., Coque, Emmanuelle, Condroyer, Christel, Bossowski, Jozef Piotr, Mojsa, Barbara, Marelli, Cecilia, Soulet, Caroline, Tesson, Christelle, Carballo-Carbajal, Iria, Laguna, Ariadna, Mangone, Graziella, Vila, Miquel, Brice, Alexis, Desagher, Solange

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KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations by KLEBEL, Stephan, LOSSOS, Alexander, RASTETTER, Agnes, MARTIN, Elodie, BOUTEILLER, Delphine, ORLANDO, Laurent, GYAPAY, Gabor, EL-HACHIMI, Khalid H, ZIMMERMAN, Batel, GAMLIEL, Moriya, MISK, Adel, LERER, Israela, AZZEDINE, Hamid, BRICE, Alexis, DURR, Alexandra, STEVANIN, Giovanni, MUNDWILLER, Emeline, SHEFFER, Ruth, GAUSSEN, Marion, MARELLI, Cecilia, NAWARA, Magdalena, CARPENTIER, Wassila, MEYER, Vincent

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Infantile-onset parkinsonism, dyskinesia, and developmental delay: do not forget polyglutamine defects by 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

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Dietary anaplerotic therapy improves peripheral tissue energy metabolism in patients with Huntington's disease by Mochel, Fanny, Duteil, Sandrine, Marelli, Cécilia, Jauffret, Céline, Barles, Agnès, Holm, Janette, Sweetman, Lawrence, Benoist, Jean-François, Rabier, Daniel, Carlier, Pierre G, Durr, Alexandra

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Late-onset behavioral variant of frontotemporal lobar degeneration versus Alzheimer's disease: Interest of cerebrospinal fluid biomarker ratios by Marelli, Cecilia, Gutierrez, Laure-Anne, Menjot de Champfleur, Nicolas, Charroud, Celine, De Verbizier, Delphine, Touchon, Jacques, Douillet, Patrice, Berr, Claudine, Lehmann, Sylvain, Gabelle, Audrey

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The P42 peptide and Peptide-based therapies for Huntington's disease by Marelli, Cecilia, Maschat, Florence

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The G389R mutation in the MAPT gene presenting as sporadic corticobasal syndrome by Rossi, Giacomina, Marelli, Cecilia, Farina, Laura, Laurà, Matilde, Maria Basile, Anna, Ciano, Claudia, Tagliavini, Fabrizio, Pareyson, Davide

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Biallelic RFC1-expansion in a French multicentric sporadic ataxia cohort by 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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A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia by 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

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Quantitative assessment of the evolution of cerebellar signs in spinocerebellar ataxias by Chan, Ellis, Charles, Perrine, Ribai, Pascale, Goizet, Cyril, Marelli, Cecilia, Vincitorio, Carlo-Maria, Bayon, Alice Le, Guyant-Maréchal, Lucie, Vandenberghe, Nadia, Anheim, Mathieu, Devos, David, Freeman, Leorah, Ber, Isabelle Le, N'Guyen, Karine, Tchikviladzé, Maya, Labauge, Pierre, Hannequin, Didier, Brice, Alexis, Durr, Alexandra, du Montcel, Sophie Tezenas

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

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Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex by Parodi, Livia, Fenu, Silvia, Barbier, Mathieu, Banneau, Guillaume, Duyckaerts, Charles, Tezenas du Montcel, Sophie, Monin, Marie-Lorraine, Ait Said, Samia, Guegan, Justine, Tallaksen, Chantal M E, Sablonniere, Bertrand, Brice, Alexis, Stevanin, Giovanni, Depienne, Christel, Durr, Alexandra

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RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology by Benkirane, Mehdi, Da Cunha, Dylan, Marelli, Cecilia, Larrieu, Lise, Renaud, Mathilde, Varilh, Jessica, Pointaux, Morgane, Baux, David, Ardouin, Olivier, Vangoethem, Charles, Taulan, Magali, Daumas Duport, Benjamin, Bergougnoux, Anne, Corbillé, Anne-Gaelle, Cossée, Mireille, Juntas Morales, Raul, Tuffery-Giraud, Sylvie, Koenig, Michel, Isidor, Bertrand, Vincent, Marie-Claire

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Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls by Bellenguez, Céline, Charbonnier, Camille, Grenier-Boley, Benjamin, Quenez, Olivier, Le Guennec, Kilan, Nicolas, Gaël, Chauhan, Ganesh, Wallon, David, Rousseau, Stéphane, Richard, Anne Claire, Boland, Anne, Bourque, Guillaume, Munter, Hans Markus, Olaso, Robert, Meyer, Vincent, Rollin-Sillaire, Adeline, Pasquier, Florence, Letenneur, Luc, Redon, Richard, Dartigues, Jean-François, Tzourio, Christophe, Frebourg, Thierry, Lathrop, Mark, Deleuze, Jean-François, Hannequin, Didier, Genin, Emmanuelle, Amouyel, Philippe, Debette, Stéphanie, Lambert, Jean-Charles, Campion, Dominique, Hannequin, Didier, Campion, Dominique, Wallon, David, Martinaud, Olivier, Zarea, Aline, Nicolas, Gaël, Rollin-Sillaire, Adeline, Bombois, Stéphanie, Mackowiak, Marie-Anne, Deramecourt, Vincent, Pasquier, Florence, Michon, Agnès, Le Ber, Isabelle, Dubois, Bruno, Godefroy, Olivier, Etcharry-Bouyx, Frédérique, Chauviré, Valérie, Chamard, Ludivine, Berger, Eric, Magnin, Eloi, Dartigues, Jean-Francois, Auriacombe, Sophie, Tison, François, Sayette, Vincent de la, Castan, Dominique, Dionet, Elsa, Sellal, Francois, Rouaud, Olivier, Thauvin, Christel, Moreaud, Olivier, Sauvée, Mathilde, Formaglio, Maïté, Mollion, Hélène, Roullet-Solignac, Isabelle, Vighetto, Alain, Croisile, Bernard, Didic, Mira, Félician, Olivier, Koric, Lejla, Ceccaldi, Mathieu, Gabelle, Audrey, Marelli, Cecilia, Labauge, Pierre, Jonveaux, Thérèse, Vercelletto, Martine, Boutoleau-Bretonnière, Claire, Castelnovo, Giovanni, Paquet, Claire, Dumurgier, Julien, Hugon, Jacques, De Boisgueheneuc, Foucauld, Belliard, Serge, Bakchine, Serge, Sarazin, Marie, Barrellon, Marie-Odile, Laurent, Bernard, Blanc, Frédéric, Pariente, Jérémie, Jurici, Snejana

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Survival in patients with spinocerebellar ataxia types 1, 2, 3, and 6 (EUROSCA): a longitudinal cohort study by Diallo, Alhassane, Jacobi, Heike, Cook, Arron, Labrum, Robyn, Durr, Alexandra, Brice, Alexis, Charles, Perrine, Marelli, Cecilia, Mariotti, Caterina, Nanetti, Lorenzo, Panzeri, Marta, Rakowicz, Maria, Sobanska, Anna, Sulek, Anna, Schmitz-Hübsch, Tanja, Schöls, Ludger, Hengel, Holger, Melegh, Bela, Filla, Alessandro, Antenora, Antonella, Infante, Jon, Berciano, José, van de Warrenburg, Bart P, Timmann, Dagmar, Boesch, Sylvia, Pandolfo, Massimo, Schulz, Jörg B, Bauer, Peter, Giunti, Paola, Kang, Jun-Suk, Klockgether, Thomas, Tezenas du Montcel, Sophie

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

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Pseudoxanthoma elasticum overlaps hereditary spastic paraplegia type 56 by Legrand, A., Pujol, C., Durand, C. M., Mesnil, A., Rubera, I., Duranton, C., Zuily, S., Sousa, A. B., Renaud, M., Boucher, J. L., Pietrancosta, N., Adham, S., Orssaud, C., Marelli, C., Casali, C., Ziccardi, L., Villain, N., Ewenczyk, C., Durr, A., Mignot, C., Stevanin, G., Billon, C., Hureaux, M., Jeunemaitre, X., Goizet, C., Albuisson, J.

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Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment by Roux, Thomas, Barbier, Mathieu, Papin, Mélanie, Davoine, Claire-Sophie, Sayah, Sabrina, Coarelli, Giulia, Charles, Perrine, Marelli, Cecilia, Parodi, Livia, Tranchant, Christine, Goizet, Cyril, Klebe, Stephan, Lohmann, Ebba, Van Maldergem, Lionel, van Broeckhoven, Christine, Coutelier, Marie, Tesson, Christelle, Stevanin, Giovanni, Duyckaerts, Charles, Brice, Alexis, Durr, Alexandra

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