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

by Foudil Lamari, Wladimir Mauhin, Fairouz Koraichi, Walid Khrouf, Celine Bordet, Jonathan London, Olivier Lidove, Philippe Charron
Published 2019-09-01

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

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

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

by Maxime Montembeault, Simona M. Brambati, Foudil Lamari, Agnès Michon, Dalila Samri, Stéphane Epelbaum, Lucette Lacomblez, Stéphane Lehéricy, Marie-Odile Habert, Bruno Dubois, Aurélie Kas, Raffaella Migliaccio
Published 2018-01-01

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

by Abdellah Tebani, Wladimir Mauhin, Lenaig Abily-Donval, Céline Lesueur, Marc G. Berger, Yann Nadjar, Juliette Berger, Oliver Benveniste, Foudil Lamari, Pascal Laforêt, Esther Noel, Stéphane Marret, Olivier Lidove, Soumeya Bekri
Published 2020-05-01

Disturbances of brain cholesterol metabolism: A new excitotoxic process associated with status epilepticus

by Aurélie Hanin, Paul Baudin, Sophie Demeret, Delphine Roussel, Sarah Lecas, Elisa Teyssou, Maria Damiano, David Luis, Virginie Lambrecq, Valerio Frazzini, Maxens Decavèle, Isabelle Plu, Dominique Bonnefont-Rousselot, Randa Bittar, Foudil Lamari, Vincent Navarro
Published 2021-07-01

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

by Arthur Viodé, Clémence Fournier, Clémence Fournier, Agnès Camuzat, Agnès Camuzat, François Fenaille, NeuroCEB Brain Bank, Morwena Latouche, Morwena Latouche, Fanny Elahi, Isabelle Le Ber, Isabelle Le Ber, Isabelle Le Ber, Christophe Junot, Foudil Lamari, Foudil Lamari, Vincent Anquetil, Vincent Anquetil, François Becher, Franck Letournel, Anne Vital, Françoise Chapon, Catherine Godfraind, Claude-Alain Maurage, Vincent Deramecourt, David Meyronnet, Nathalie Streichenberger, André Maues de Paula, Valérie Rigau, Fanny Vandenbos-Burel, Charles Duyckaerts, Danielle Seilhean, Véronique Sazdovitch, Serge Milin, Dan Christian Chiforeanu, Annie Laquerrière, Béatrice Lannes
Published 2018-08-01

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

by Yann Nadjar, Ana Lucia Hütter-Moncada, Philippe Latour, Xavier Ayrignac, Elsa Kaphan, Christine Tranchant, Pascal Cintas, Adrian Degardin, Cyril Goizet, Chloe Laurencin, Lionel Martzolff, Caroline Tilikete, Mathieu Anheim, Bertrand Audoin, Vincent Deramecourt, Thierry Dubard De Gaillarbois, Emmanuel Roze, Foudil Lamari, Marie T. Vanier, Bénédicte Héron
Published 2018-10-01

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

by Wladimir Mauhin, Olivier Benveniste, Damien Amelin, Clémence Montagner, Foudil Lamari, Catherine Caillaud, Claire Douillard, Bertrand Dussol, Vanessa Leguy-Seguin, Pauline D'Halluin, Esther Noel, Thierry Zenone, Marie Matignon, François Maillot, Kim-Heang Ly, Gérard Besson, Marjolaine Willems, Fabien Labombarda, Agathe Masseau, Christian Lavigne, Didier Lacombe, Hélène Maillard, Olivier Lidove
Published 2020-01-01

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

by Wladimir Mauhin, Olivier Lidove, Damien Amelin, Foudil Lamari, Catherine Caillaud, Federico Mingozzi, Gaëlle Dzangué-Tchoupou, Louiza Arouche-Delaperche, Claire Douillard, Bertrand Dussol, Vanessa Leguy-Seguin, Pauline D’Halluin, Esther Noel, Thierry Zenone, Marie Matignon, François Maillot, Kim-Heang Ly, Gérard Besson, Marjolaine Willems, Fabien Labombarda, Agathe Masseau, Christian Lavigne, Roseline Froissart, Didier Lacombe, Jean Marc Ziza, Eric Hachulla, Olivier Benveniste
Published 2018-07-01

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

by Ashraf Yahia, Ashraf Yahia, Ashraf Yahia, Ashraf Yahia, Liena E. O. Elsayed, Liena E. O. Elsayed, Remi Valter, Remi Valter, Ahlam A. A. Hamed, Inaam N. Mohammed, Maha A. Elseed, Mustafa A. Salih, Typhaine Esteves, Typhaine Esteves, Nicolas Auger, Nicolas Auger, Rayan Abubaker, Mahmoud Koko, Fatima Abozar, Hiba Malik, Rawaa Adil, Sara Emad, Mhammed Alhassan Musallam, Razaz Idris, Isra Z. M. Eltazi, Arwa Babai, Elhami A. A. Ahmed, Amal S. I. Abd Allah, Mathilde Mairey, Ahmed K. M. A. Ahmed, Ahmed K. M. A. Ahmed, Ahmed K. M. A. Ahmed, Mustafa I. Elbashir, Alexis Brice, Muntaser E. Ibrahim, Ammar E. Ahmed, Foudil Lamari, Giovanni Stevanin, Giovanni Stevanin
Published 2021-08-01