Cognitive impairment profile in adult patients with Niemann pick type C disease

por Heitz, Camille, Epelbaum, Stéphane, Nadjar, Yann
Publicado 2017

Evolution of structural neuroimaging biomarkers in a series of adult patients with Niemann-Pick type C under treatment

por Masingue, Marion, Adanyeguh, Isaac, Nadjar, Yann, Sedel, Frédéric, Galanaud, Damien, Mochel, Fanny
Publicado 2017

Elevated Serum Ferritin Is Associated with Reduced Survival in Amyotrophic Lateral Sclerosis

por Nadjar, Yann, Gordon, Paul, Corcia, Philippe, Bensimon, Gilbert, Pieroni, Laurence, Meininger, Vincent, Salachas, François
Publicado 2012

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

Alanyl-tRNA Synthetase 2-Related Dementia with Selective Bilateral Frontal Cystic Leukoencephalopathy

por Carle, Guilhem, Morin, Alexandre, Noiray, Camille, Roy-Joly, Perrine, Cohen, Laurent, Levy, Richard, Samaan, Simon, Nadjar, Yann
Publicado 2018

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

Adolescence/adult onset MTHFR deficiency may manifest as isolated and treatable distinct neuro-psychiatric syndromes

por Gales, Ana, Masingue, Marion, Millecamps, Stephanie, Giraudier, Stephane, Grosliere, Laure, Adam, Claude, Salim, Claudio, Navarro, Vincent, Nadjar, Yann
Publicado 2018

Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?

por Sobrido, María-Jesús, Bauer, Peter, de Koning, Tom, Klopstock, Thomas, Nadjar, Yann, Patterson, Marc C, Synofzik, Matthis, Hendriksz, Chris J
Publicado 2019

A juvenile ALS‐like phenotype dramatically improved after high‐dose riboflavin treatment

por Carreau, Christophe, Lenglet, Timothée, Mosnier, Isabelle, Lahlou, Ghizlene, Fargeot, Guillaume, Weiss, Nicolas, Demeret, Sophie, Salachas, François, Veauville‐Merllié, Alice, Acquaviva, Cécile, Nadjar, Yann
Publicado 2020

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

Long‐term survival outcomes of patients with Niemann‐Pick disease type C receiving miglustat treatment: A large retrospective observational study

por Patterson, Marc C., Garver, William S., Giugliani, Robert, Imrie, Jackie, Jahnova, Helena, Meaney, F John, Nadjar, Yann, Vanier, Marie T., Moneuse, Patrick, Morand, Olivier, Rosenberg, Daniel, Schwierin, Barbara, Héron, Benedicte
Publicado 2020

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

Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature

por Jurkute, Neringa, Shanmugarajah, Priya D., Hadjivassiliou, Marios, Higgs, Jenny, Vojcic, Miodrag, Horrocks, Iain, Nadjar, Yann, Touitou, Valerie, Lenaers, Guy, Poh, Roy, Acheson, James, Robson, Anthony G., Raymond, F. Lucy, Reilly, Mary M., Yu-Wai-Man, Patrick, Moore, Anthony T., Webster, Andrew R., Arno, Gavin
Publicado 2021

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

Sushi domain-containing protein 4 controls synaptic plasticity and motor learning

por González-Calvo, Inés, Iyer, Keerthana, Carquin, Mélanie, Khayachi, Anouar, Giuliani, Fernando A, Sigoillot, Séverine M, Vincent, Jean, Séveno, Martial, Veleanu, Maxime, Tahraoui, Sylvana, Albert, Mélanie, Vigy, Oana, Bosso-Lefèvre, Célia, Nadjar, Yann, Dumoulin, Andréa, Triller, Antoine, Bessereau, Jean-Louis, Rondi-Reig, Laure, Isope, Philippe, Selimi, Fekrije
Publicado 2021

Betaine anhydrous in homocystinuria: results from the RoCH registry

por Valayannopoulos, Vassili, Schiff, Manuel, Guffon, Nathalie, Nadjar, Yann, García-Cazorla, Angels, Martinez-Pardo Casanova, Mercedes, Cano, Aline, Couce, Maria L., Dalmau, Jaime, Peña-Quintana, Luis, Rigalleau, Vincent, Touati, Guy, Aldamiz-Echevarria, Luis, Cathebras, Pascal, Eyer, Didier, Brunet, Dominique, Damaj, Léna, Dobbelaere, Dries, Gay, Claire, Hiéronimus, Sylvie, Levrat, Virginie, Maillot, François
Publicado 2019

Consensus clinical management guidelines for Niemann-Pick disease type C

por Geberhiwot, Tarekegn, Moro, Alessandro, Dardis, Andrea, Ramaswami, Uma, Sirrs, Sandra, Marfa, Mercedes Pineda, Vanier, Marie T., Walterfang, Mark, Bolton, Shaun, Dawson, Charlotte, Héron, Bénédicte, Stampfer, Miriam, Imrie, Jackie, Hendriksz, Christian, Gissen, Paul, Crushell, Ellen, Coll, Maria J., Nadjar, Yann, Klünemann, Hans, Mengel, Eugen, Hrebicek, Martin, Jones, Simon A., Ory, Daniel, Bembi, Bruno, Patterson, Marc
Publicado 2018

Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients

por Gardin, Antoine, Castelle, Martin, Pichard, Samia, Cano, Aline, Chabrol, Brigitte, Piarroux, Julie, Roubertie, Agathe, Nadjar, Yann, Guemann, Anne-Sophie, Tardieu, Marine, Lacombe, Didier, Robert, Matthieu P., Caillaud, Catherine, Froissart, Roseline, Leboeuf, Virginie, Barbier, Valérie, Bouchereau, Juliette, Schiff, Manuel, Fauroux, Brigitte, Thierry, Briac, Luscan, Romain, James, Syril, de Saint-Denis, Timothée, Pannier, Stéphanie, Gitiaux, Cyril, Vergnaud, Estelle, Boddaert, Nathalie, Lascourreges, Claire, Lemoine, Michel, Bonnet, Damien, Blanche, Stéphane, Dalle, Jean-Hugues, Neven, Bénédicte, de Lonlay, Pascale, Brassier, Anaïs
Publicado 2022