Mass Spectrometry for Neurobiomarker Discovery: The Relevance of Post-Translational Modifications

por Azevedo, Rita, Jacquemin, Chloé, Villain, Nicolas, Fenaille, François, Lamari, Foudil, Becher, François
Publicado 2022

Strong increase of leukocyte apha‐galactosidase A activity in two male patients with Fabry disease following oral chaperone therapy

por Lamari, Foudil, Mauhin, Wladimir, Koraichi, Fairouz, Khrouf, Walid, Bordet, Celine, London, Jonathan, Lidove, Olivier, Charron, Philippe
Publicado 2019

Diagnostic approach in adult-onset neurometabolic diseases

por Fernández-Eulate, Gorka, Carreau, Christophe, Benoist, Jean-François, Lamari, Foudil, Rucheton, Benoit, Shor, Natalia, Nadjar, Yann
Publicado 2022

Natural history of cerebrotendinous xanthomatosis: a paediatric disease diagnosed in adulthood

por Degos, Bertrand, Nadjar, Yann, Amador, Maria del Mar, Lamari, Foudil, Sedel, Frédéric, Roze, Emmanuel, Couvert, Philippe, Mochel, Fanny
Publicado 2016

Teriflunomide Promotes Oligodendroglial 8,9-Unsaturated Sterol Accumulation and CNS Remyelination

por Martin, Elodie, Aigrot, Marie-Stephane, Lamari, Foudil, Bachelin, Corinne, Lubetzki, Catherine, Oumesmar, Brahim Nait, Zalc, Bernard, Stankoff, Bruno
Publicado 2021

Frontal presentation of Alzheimer's disease: a series of patients with biological evidence by CSF biomarkers

por de Souza, Leonardo Cruz, Bertoux, Maxime, Funkiewiez, Aurélie, Samri, Dalila, Azuar, Carole, Habert, Marie-Odile, Kas, Aurélie, Lamari, Foudil, Sarazin, Marie, Dubois, Bruno
Publicado 2013

New Antibody-Free Mass Spectrometry-Based Quantification Reveals That C9ORF72 Long Protein Isoform Is Reduced in the Frontal Cortex of Hexanucleotide-Repeat Expansion Carriers

por Viodé, Arthur, Fournier, Clémence, Camuzat, Agnès, Fenaille, François, Latouche, Morwena, Elahi, Fanny, Le Ber, Isabelle, Junot, Christophe, Lamari, Foudil, Anquetil, Vincent, Becher, François
Publicado 2018

Partial Volume Correction Increases the Sensitivity of 18F-Florbetapir-Positron Emission Tomography for the Detection of Early Stage Amyloidosis

por Teipel, Stefan J., Dyrba, Martin, Vergallo, Andrea, Lista, Simone, Habert, Marie Odile, Potier, Marie-Claude, Lamari, Foudil, Dubois, Bruno, Hampel, Harald, Grothe, Michel J.
Publicado 2021

Implication of NADPH Oxidases in the Early Inflammation Process Generated by Cystic Fibrosis Cells

por Pongnimitprasert, Nushjira, Hurtado, Margarita, Lamari, Foudil, El Benna, Jamel, Dupuy, Corinne, Fay, Michèle, Foglietti, Marie-José, Bernard, Maguy, Gougerot-Pocidalo, Marie-Anne, Braut-Boucher, Françoise
Publicado 2012

Atrophy, metabolism and cognition in the posterior cortical atrophy spectrum based on Alzheimer's disease cerebrospinal fluid biomarkers

por Montembeault, Maxime, Brambati, Simona M., Lamari, Foudil, Michon, Agnès, Samri, Dalila, Epelbaum, Stéphane, Lacomblez, Lucette, Lehéricy, Stéphane, Habert, Marie-Odile, Dubois, Bruno, Kas, Aurélie, Migliaccio, Raffaella
Publicado 2018

Prospective cholestanol screening of cerebrotendinous xanthomatosis among patients with juvenile-onset unexplained bilateral cataracts

por Fernández-Eulate, Gorka, Martin, Gilles C., Dureau, Pascal, Speeg-Spatz, Claude, Brassier, Anais, Gillard, Perrine, Bremond-Gignac, Dominique, Thouvenin, Dominique, Pagan, Cecile, Lamari, Foudil, Nadjar, Yann
Publicado 2022

A Proteomics-Based Analysis Reveals Predictive Biological Patterns in Fabry Disease

por Tebani, Abdellah, Mauhin, Wladimir, Abily-Donval, Lenaig, Lesueur, Céline, Berger, Marc G., Nadjar, Yann, Berger, Juliette, Benveniste, Oliver, Lamari, Foudil, Laforêt, Pascal, Noel, Esther, Marret, Stéphane, Lidove, Olivier, Bekri, Soumeya
Publicado 2020

Sphingosine-1-Phosphate Levels Are Higher in Male Patients with Non-Classic Fabry Disease

por Mauhin, Wladimir, Tebani, Abdellah, Amelin, Damien, Abily-Donval, Lenaig, Lamari, Foudil, London, Jonathan, Douillard, Claire, Dussol, Bertrand, Leguy-Seguin, Vanessa, Noel, Esther, Masseau, Agathe, Lacombe, Didier, Maillard, Hélène, Bekri, Soumeya, Lidove, Olivier, Benveniste, Olivier
Publicado 2022

Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect

por Nadjar, Yann, Hütter-Moncada, Ana Lucia, Latour, Philippe, Ayrignac, Xavier, Kaphan, Elsa, Tranchant, Christine, Cintas, Pascal, Degardin, Adrian, Goizet, Cyril, Laurencin, Chloe, Martzolff, Lionel, Tilikete, Caroline, Anheim, Mathieu, Audoin, Bertrand, Deramecourt, Vincent, De Gaillarbois, Thierry Dubard, Roze, Emmanuel, Lamari, Foudil, Vanier, Marie T., Héron, Bénédicte
Publicado 2018

Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease

por Mauhin, Wladimir, Benveniste, Olivier, Amelin, Damien, Montagner, Clémence, Lamari, Foudil, Caillaud, Catherine, Douillard, Claire, Dussol, Bertrand, Leguy-Seguin, Vanessa, D'Halluin, Pauline, Noel, Esther, Zenone, Thierry, Matignon, Marie, Maillot, François, Ly, Kim-Heang, Besson, Gérard, Willems, Marjolaine, Labombarda, Fabien, Masseau, Agathe, Lavigne, Christian, Lacombe, Didier, Maillard, Hélène, Lidove, Olivier
Publicado 2020

Deep characterization of the anti-drug antibodies developed in Fabry disease patients, a prospective analysis from the French multicenter cohort FFABRY

por Mauhin, Wladimir, Lidove, Olivier, Amelin, Damien, Lamari, Foudil, Caillaud, Catherine, Mingozzi, Federico, Dzangué-Tchoupou, Gaëlle, Arouche-Delaperche, Louiza, Douillard, Claire, Dussol, Bertrand, Leguy-Seguin, Vanessa, D’Halluin, Pauline, Noel, Esther, Zenone, Thierry, Matignon, Marie, Maillot, François, Ly, Kim-Heang, Besson, Gérard, Willems, Marjolaine, Labombarda, Fabien, Masseau, Agathe, Lavigne, Christian, Froissart, Roseline, Lacombe, Didier, Ziza, Jean Marc, Hachulla, Eric, Benveniste, Olivier
Publicado 2018

The wide spectrum of COVID-19 neuropsychiatric complications within a multidisciplinary centre

por Delorme, Cécile, Houot, Marion, Rosso, Charlotte, Carvalho, Stéphanie, Nedelec, Thomas, Maatoug, Redwan, Pitron, Victor, Gassama, Salimata, Sambin, Sara, Bombois, Stéphanie, Herlin, Bastien, Ouvrard, Gaëlle, Bruneteau, Gaëlle, Hesters, Adèle, Gales, Ana Zenovia, Millet, Bruno, Lamari, Foudil, Lehericy, Stéphane, Navarro, Vincent, Rohaut, Benjamin, Demeret, Sophie, Maisonobe, Thierry, Yger, Marion, Degos, Bertrand, Mariani, Louise-Laure, Bouche, Christophe, Dzierzynski, Nathalie, Oquendo, Bruno, Ketz, Flora, Nguyen, An-Hung, Kas, Aurélie, Lubetzki, Catherine, Delattre, Jean-Yves, Corvol, Jean-Christophe
Publicado 2021

Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia

por Yahia, Ashraf, Elsayed, Liena E. O., Valter, Remi, Hamed, Ahlam A. A., Mohammed, Inaam N., Elseed, Maha A., Salih, Mustafa A., Esteves, Typhaine, Auger, Nicolas, Abubaker, Rayan, Koko, Mahmoud, Abozar, Fatima, Malik, Hiba, Adil, Rawaa, Emad, Sara, Musallam, Mhammed Alhassan, Idris, Razaz, Eltazi, Isra Z. M., Babai, Arwa, Ahmed, Elhami A. A., Abd Allah, Amal S. I., Mairey, Mathilde, Ahmed, Ahmed K. M. A., Elbashir, Mustafa I., Brice, Alexis, Ibrahim, Muntaser E., Ahmed, Ammar E., Lamari, Foudil, Stevanin, Giovanni
Publicado 2021

Neurofilament light chain: a biomarker for genetic frontotemporal dementia

por Meeter, Lieke H., Dopper, Elise G., Jiskoot, Lize C., Sanchez‐Valle, Raquel, Graff, Caroline, Benussi, Luisa, Ghidoni, Roberta, Pijnenburg, Yolande A., Borroni, Barbara, Galimberti, Daniela, Laforce, Robert Jr, Masellis, Mario, Vandenberghe, Rik, Ber, Isabelle Le, Otto, Markus, van Minkelen, Rick, Papma, Janne M., Rombouts, Serge A., Balasa, Mircea, Öijerstedt, Linn, Jelic, Vesna, Dick, Katrina M., Cash, David M., Harding, Sophie R., Jorge Cardoso, M., Ourselin, Sebastien, Rossor, Martin N., Padovani, Alessandro, Scarpini, Elio, Fenoglio, Chiara, Tartaglia, Maria C., Lamari, Foudil, Barro, Christian, Kuhle, Jens, Rohrer, Jonathan D., Teunissen, Charlotte E., van Swieten, John C.
Publicado 2016

Implication of folate deficiency in CYP2U1 loss of function

por Pujol, Claire, Legrand, Anne, Parodi, Livia, Thomas, Priscilla, Mochel, Fanny, Saracino, Dario, Coarelli, Giulia, Croon, Marijana, Popovic, Milica, Valet, Manon, Villain, Nicolas, Elshafie, Shahira, Issa, Mahmoud, Zuily, Stephane, Renaud, Mathilde, Marelli-Tosi, Cécilia, Legendre, Marine, Trimouille, Aurélien, Kemlin, Isabelle, Mathieu, Sophie, Gleeson, Joseph G., Lamari, Foudil, Galatolo, Daniele, Alkouri, Rana, Tse, Chantal, Rodriguez, Diana, Ewenczyk, Claire, Fellmann, Florence, Kuntzer, Thierry, Blond, Emilie, El Hachimi, Khalid H., Darios, Frédéric, Seyer, Alexandre, Gazi, Anastasia D., Giavalisco, Patrick, Perin, Silvina, Boucher, Jean-Luc, Le Corre, Laurent, Santorelli, Filippo M., Goizet, Cyril, Zaki, Maha S., Picaud, Serge, Mourier, Arnaud, Steculorum, Sophie Marie, Mignot, Cyril, Durr, Alexandra, Trifunovic, Aleksandra, Stevanin, Giovanni
Publicado 2021