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

por Marelli, Cecilia, Maschat, Florence
Publicado en Orphanet J Rare Dis (2016)

Cerebral Iron Accumulation Is Not a Major Feature of FA2H/SPG35

por Marelli, Cecilia, Salih, Mustafa A., Nguyen, Karine, Mallaret, Martial, Leboucq, Nicolas, Hassan, Hamdy H., Drouot, Nathalie, Labauge, Pierre, Koenig, Michel
Publicado en Mov Disord Clin Pract (2015)

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 en Neurol Genet (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 en Ann Clin Transl Neurol (2015)

Dietary anaplerotic therapy improves peripheral tissue energy metabolism in patients with Huntington's disease

por Mochel, Fanny, Duteil, Sandrine, Marelli, Cécilia, Jauffret, Céline, Barles, Agnès, Holm, Janette, Sweetman, Lawrence, Benoist, Jean-François, Rabier, Daniel, Carlier, Pierre G, Durr, Alexandra
Publicado 2010

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 en Alzheimers Dement (Amst) (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 en Front Aging Neurosci (2017)

Cerebrospinal Fluid Alzheimer’s Disease Biomarkers in Cerebral Amyloid Angiopathy-Related Inflammation

por Renard, Dimitri, Wacongne, Anne, Ayrignac, Xavier, Charif, Mahmoud, Fourcade, Genevieve, Azakri, Souhayla, Le Floch, Anne, Bouly, Stephane, Marelli, Cecilia, Arquizan, Caroline, Hirtz, Christophe, Gabelle, Audrey, Thouvenot, Eric, Lehmann, Sylvain
Publicado en J Alzheimers Dis (2016)

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 en Ann Clin Transl Neurol (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 en Neurol Genet (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 en Front Neurol (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 en Alzheimers Res Ther (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

KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations

por Klebe, Stephan, Lossos, Alexander, Azzedine, Hamid, Mundwiller, Emeline, Sheffer, Ruth, Gaussen, Marion, Marelli, Cecilia, Nawara, Magdalena, Carpentier, Wassila, Meyer, Vincent, Rastetter, Agnès, Martin, Elodie, Bouteiller, Delphine, Orlando, Laurent, Gyapay, Gabor, El-Hachimi, Khalid H, Zimmerman, Batel, Gamliel, Moriya, Misk, Adel, Lerer, Israela, Brice, Alexis, Durr, Alexandra, Stevanin, Giovanni
Publicado 2012

SCA15 due to large ITPR1 deletions in a cohort of 333 Caucasian families with dominant ataxia

por Marelli, Cecilia, van de Leemput, Joyce, Johnson, Janel O, Tison, Francois, Thauvin-Robinet, Christel, Picard, Fabienne, Tranchant, Christine, Hernandez, Dena G, Huttin, Bernard, Boulliat, Jacques, Sangla, Iban, Marescaux, Christian, Brique, Serge, Dollfus, Hélène, Arepalli, Sampath, Benatru, Isabelle, Ollagnon, Elisabeth, Forlani, Sylvie, Hardy, John, Stevanin, Giovanni, Dürr, Alexandra, Singleton, Andrew, Brice, Alexis
Publicado 2011

A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia

por Di Gregorio, Eleonora, Bianchi, Federico T., Schiavi, Alfonso, Chiotto, Alessandra M.A., Rolando, Marco, di Cantogno, Ludovica Verdun, Grosso, Enrico, Cavalieri, Simona, Calcia, Alessandro, Lacerenza, Daniela, Zuffardi, Orsetta, Retta, Saverio Francesco, Stevanin, Giovanni, Marelli, Cecilia, Durr, Alexandra, Forlani, Sylvie, Chelly, Jamel, Montarolo, Francesca, Tempia, Filippo, Beggs, Hilary E., Reed, Robin, Squadrone, Stefania, Abete, Maria C., Brussino, Alessandro, Ventura, Natascia, Di Cunto, Ferdinando, Brusco, Alfredo
Publicado 2013

Body Mass Index Decline Is Related to Spinocerebellar Ataxia Disease Progression

por Diallo, Alhassane, Jacobi, Heike, Schmitz‐Hübsch, Tanja, Cook, Arron, Labrum, Robyn, Durr, Alexandra, Brice, Alexis, Charles, Perrine, Marelli, Cecilia, Mariotti, Caterina, Nanetti, Lorenzo, Panzeri, Marta, Rakowicz, Maria, Sobanska, Anna, Sulek, Anna, 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, Baliko, Laszlo, Parkinson, Michael H., Kang, Jun‐Suk, Klockgether, Thomas, Tezenas du Montcel, Sophie
Publicado en Mov Disord Clin Pract (2017)