Hasil Pencarian - Yann Nadjar

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  1. 1
    Cognitive impairment profile in adult patients with Niemann pick type C disease

    Cognitive impairment profile in adult patients with Niemann pick type C disease oleh Camille Heitz, Stéphane Epelbaum, Yann Nadjar

    Diterbitkan 2017-10-01
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  2. 2
    Elevated serum ferritin is associated with reduced survival in amyotrophic lateral sclerosis.

    Elevated serum ferritin is associated with reduced survival in amyotrophic lateral sclerosis. oleh Yann Nadjar, Paul Gordon, Philippe Corcia, Gilbert Bensimon, Laurence Pieroni, Vincent Meininger, François Salachas

    Diterbitkan 2012-01-01
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  3. 3
    Adolescence/adult onset MTHFR deficiency may manifest as isolated and treatable distinct neuro-psychiatric syndromes

    Adolescence/adult onset MTHFR deficiency may manifest as isolated and treatable distinct neuro-psychiatric syndromes oleh Ana Gales, Marion Masingue, Stephanie Millecamps, Stephane Giraudier, Laure Grosliere, Claude Adam, Claudio Salim, Vincent Navarro, Yann Nadjar

    Diterbitkan 2018-02-01
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  4. 4
    Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?

    Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C? oleh María-Jesús Sobrido, Peter Bauer, Tom de Koning, Thomas Klopstock, Yann Nadjar, Marc C Patterson, Matthis Synofzik, Chris J Hendriksz

    Diterbitkan 2019-01-01
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  5. 5
    A juvenile ALS‐like phenotype dramatically improved after high‐dose riboflavin treatment

    A juvenile ALS‐like phenotype dramatically improved after high‐dose riboflavin treatment oleh Christophe Carreau, Timothée Lenglet, Isabelle Mosnier, Ghizlene Lahlou, Guillaume Fargeot, Nicolas Weiss, Sophie Demeret, François Salachas, Alice Veauville‐Merllié, Cécile Acquaviva, Yann Nadjar

    Diterbitkan 2020-02-01
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  6. 6
    Prospective cholestanol screening of cerebrotendinous xanthomatosis among patients with juvenile-onset unexplained bilateral cataracts

    Prospective cholestanol screening of cerebrotendinous xanthomatosis among patients with juvenile-onset unexplained bilateral cataracts oleh Gorka Fernández-Eulate, Gilles C. Martin, Pascal Dureau, Claude Speeg-Spatz, Anais Brassier, Perrine Gillard, Dominique Bremond-Gignac, Dominique Thouvenin, Cecile Pagan, Foudil Lamari, Yann Nadjar

    Diterbitkan 2022-12-01
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  7. 7
    Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect

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

    Diterbitkan 2018-10-01
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  8. 8
    Sushi domain-containing protein 4 controls synaptic plasticity and motor learning

    Sushi domain-containing protein 4 controls synaptic plasticity and motor learning oleh Inés González-Calvo, Keerthana Iyer, Mélanie Carquin, Anouar Khayachi, Fernando A Giuliani, Séverine M Sigoillot, Jean Vincent, Martial Séveno, Maxime Veleanu, Sylvana Tahraoui, Mélanie Albert, Oana Vigy, Célia Bosso-Lefèvre, Yann Nadjar, Andréa Dumoulin, Antoine Triller, Jean-Louis Bessereau, Laure Rondi-Reig, Philippe Isope, Fekrije Selimi

    Diterbitkan 2021-03-01
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  9. 9
    Betaine anhydrous in homocystinuria: results from the RoCH registry

    Betaine anhydrous in homocystinuria: results from the RoCH registry oleh Vassili Valayannopoulos, Manuel Schiff, Nathalie Guffon, Yann Nadjar, Angels García-Cazorla, Mercedes Martinez-Pardo Casanova, Aline Cano, Maria L. Couce, Jaime Dalmau, Luis Peña-Quintana, Vincent Rigalleau, Guy Touati, Luis Aldamiz-Echevarria, Pascal Cathebras, Didier Eyer, Dominique Brunet, Léna Damaj, Dries Dobbelaere, Claire Gay, Sylvie Hiéronimus, Virginie Levrat, François Maillot

    Diterbitkan 2019-03-01
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  10. 10
    Consensus clinical management guidelines for Niemann-Pick disease type C

    Consensus clinical management guidelines for Niemann-Pick disease type C oleh Tarekegn Geberhiwot, Alessandro Moro, Andrea Dardis, Uma Ramaswami, Sandra Sirrs, Mercedes Pineda Marfa, Marie T. Vanier, Mark Walterfang, Shaun Bolton, Charlotte Dawson, Bénédicte Héron, Miriam Stampfer, Jackie Imrie, Christian Hendriksz, Paul Gissen, Ellen Crushell, Maria J. Coll, Yann Nadjar, Hans Klünemann, Eugen Mengel, Martin Hrebicek, Simon A. Jones, Daniel Ory, Bruno Bembi, Marc Patterson, on behalf of the International Niemann-Pick Disease Registry (INPDR)

    Diterbitkan 2018-04-01
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  11. 11
    Plasma lysosphingolipids in GRN-related diseases: Monitoring lysosomal dysfunction to track disease progression

    Plasma lysosphingolipids in GRN-related diseases: Monitoring lysosomal dysfunction to track disease progression oleh Walid Khrouf, Dario Saracino, Benoit Rucheton, Marion Houot, Fabienne Clot, Daisy Rinaldi, Joana Vitor, Marie Huynh, Evelyne Heng, Dimitri Schlemmer, Florence Pasquier, Vincent Deramecourt, Sophie Auriacombe, Carole Azuar, Richard Levy, Stéphanie Bombois, Claire Boutoleau-Brétonnière, Jérémie Pariente, Mira Didic, David Wallon, Frédérique Fluchère, Stéphane Auvin, Imen Ben Younes, Yann Nadjar, Alexis Brice, Bruno Dubois, Dominique Bonnefont-Rousselot, Isabelle Le Ber, Foudil Lamari

    Diterbitkan 2023-06-01
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  12. 12
    Recurrent “outsider” intronic variation in the SLC5A6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb

    Recurrent “outsider” intronic variation in the SLC5A6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb oleh Lamisse Mansour-Hendili, Lamisse Mansour-Hendili, Cyril Gitiaux, Cyril Gitiaux, Madeleine Harion, Madeleine Harion, Madeleine Harion, Céline Latouche, Bénédicte Heron, Bénédicte Heron, Tanya Stojkovic, Mélanie Rama, Thomas Smol, Thomas Smol, Anne Sophie Jourdain, Anne Sophie Jourdain, Karine Mention, Yann Nadjar, Manuel Schiff, Manuel Schiff, Manuel Schiff, Julie Lemale, Jamal Ghoumid, Jamal Ghoumid, Frédéric Gottrand, Frédéric Gottrand, Cécile Talbotec, Agnès Rötig, Agnès Rötig, Benoît Funalot, Benoît Funalot, Isabelle Desguerre, Isabelle Desguerre

    Diterbitkan 2024-01-01
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