Found: 20

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  • 29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype.

    Published in:
    Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 391, doi. 10.1186/s13023-014-0207-4
    By:
    • Monin, Marie-Lorraine;
    • Mignot, Cyril;
    • De Lonlay, Pascale;
    • Héron, Bénédicte;
    • Masurel, Alice;
    • Mathieu-Dramard, Michèle;
    • Lenaerts, Catherine;
    • Thauvin, Christel;
    • Gérard, Marion;
    • Roze, Emmanuel;
    • Jacquette, Aurélia;
    • Charles, Perrine;
    • de Baracé, Claire;
    • Drouin-Garraud, Valérie;
    • Khau Van Kien, Philippe;
    • Cormier-Daire, Valérie;
    • Mayer, Michèle;
    • Ogier, Hélène;
    • Brice, Alexis;
    • Seta, Nathalie
    Publication type:
    Article

  • 29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype.

    Published in:
    2014
    By:
    • Monin, Marie-Lorraine;
    • Mignot, Cyril;
    • De Lonlay, Pascale;
    • Héron, Bénédicte;
    • Masurel, Alice;
    • Mathieu-Dramard, Michèle;
    • Lenaerts, Catherine;
    • Thauvin, Christel;
    • Gérard, Marion;
    • Roze, Emmanuel;
    • Jacquette, Aurélia;
    • Charles, Perrine;
    • de Baracé, Claire;
    • Drouin-Garraud, Valérie;
    • Khau Van Kien, Philippe;
    • Cormier-Daire, Valérie;
    • Mayer, Michèle;
    • Ogier, Hélène;
    • Brice, Alexis;
    • Seta, Nathalie
    Publication type:
    Journal Article

  • Two RFC1 splicing variants in CANVAS.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 3, p. e14, doi. 10.1093/brain/awac466
    By:
    • Weber, Sacha;
    • Coarelli, Giulia;
    • Heinzmann, Anna;
    • Monin, Marie-Lorraine;
    • Richard, Nicolas;
    • Gerard, Marion;
    • Durr, Alexandra;
    • Huin, Vincent
    Publication type:
    Article

  • Motor neuron pathology in CANVAS due to RFC1 expansions.

    Published in:
    2022
    By:
    • Huin, Vincent;
    • Coarelli, Giulia;
    • Guemy, Clément;
    • Boluda, Susana;
    • Debs, Rabab;
    • Mochel, Fanny;
    • Stojkovic, Tanya;
    • Grabli, David;
    • Maisonobe, Thierry;
    • Gaymard, Bertrand;
    • Lenglet, Timothée;
    • Tard, Céline;
    • Davion, Jean Baptiste;
    • Sablonnière, Bernard;
    • Monin, Marie Lorraine;
    • Ewenczyk, Claire;
    • Viala, Karine;
    • Charles, Perrine;
    • Ber, Isabelle Le;
    • Reilly, Mary M
    Publication type:
    journal article

  • Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex.

    Published in:
    2018
    By:
    • Parodi, Livia;
    • Fenu, Silvia;
    • Barbier, Mathieu;
    • Banneau, Guillaume;
    • Duyckaerts, Charles;
    • Montcel, Sophie Tezenas du;
    • Monin, Marie-Lorraine;
    • Said, Samia Ait;
    • Guegan, Justine;
    • Tallaksen, Chantal M E;
    • Tezenas du Montcel, Sophie;
    • Ait Said, Samia;
    • Sablonniere, Bertrand;
    • Brice, Alexis;
    • Stevanin, Giovanni;
    • Depienne, Christel;
    • Durr, Alexandra;
    • SPATAX network
    Publication type:
    journal article

  • Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5.

    Published in:
    2018
    By:
    • Marelli, Cecilia;
    • Lamari, Foudil;
    • Rainteau, Dominique;
    • Lafourcade, Alexandre;
    • Banneau, Guillaume;
    • Humbert, Lydie;
    • Monin, Marie-Lorraine;
    • Petit, Elodie;
    • Debs, Rabab;
    • Castelnovo, Giovanni;
    • Ollagnon, Elisabeth;
    • Lavie, Julie;
    • Pilliod, Julie;
    • Coupry, Isabelle;
    • Babin, Patrick J.;
    • Guissart, Claire;
    • Benyounes, Imen;
    • Ullmann, Urielle;
    • Lesca, Gaetan;
    • Thauvin-Robinet, Christel
    Publication type:
    journal article

  • A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.

    Published in:
    2017
    By:
    • Coutelier, Marie;
    • Coarelli, Giulia;
    • Monin, Marie-Lorraine;
    • Konop, Juliette;
    • Davoine, Claire-Sophie;
    • Tesson, Christelle;
    • Valter, Rémi;
    • Anheim, Mathieu;
    • Behin, Anthony;
    • Castelnovo, Giovanni;
    • Charles, Perrine;
    • David, Albert;
    • Ewenczyk, Claire;
    • Fradin, Mélanie;
    • Goizet, Cyril;
    • Hannequin, Didier;
    • Labauge, Pierre;
    • Riant, Florence;
    • Sarda, Pierre;
    • Sznajer, Yves
    Publication type:
    journal article

  • Significance of NT-proBNP and High-Sensitivity Troponin in Friedreich Ataxia.

    Published in:
    Journal of Clinical Medicine, 2020, v. 9, n. 6, p. 1630, doi. 10.3390/jcm9061630
    By:
    • Legrand, Lise;
    • Maupain, Carole;
    • Monin, Marie-Lorraine;
    • Ewenczyk, Claire;
    • Isnard, Richard;
    • Alkouri, Rana;
    • Durr, Alexandra;
    • Pousset, Francoise
    Publication type:
    Article

  • Expanded neurochemical profile in the early stage of Huntington disease using proton magnetic resonance spectroscopy.

    Published in:
    NMR in Biomedicine, 2018, v. 31, n. 3, p. 1, doi. 10.1002/nbm.3880
    By:
    • Adanyeguh, Isaac M.;
    • Monin, Marie‐Lorraine;
    • Rinaldi, Daisy;
    • Freeman, Léorah;
    • Durr, Alexandra;
    • Lehéricy, Stéphane;
    • Henry, Pierre‐Gilles;
    • Mochel, Fanny
    Publication type:
    Article

  • Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes.

    Published in:
    JAMA Neurology, 2018, v. 75, n. 5, p. 591, doi. 10.1001/jamaneurol.2017.5121
    By:
    • Coutelier, Marie;
    • Hammer, Monia B.;
    • Stevanin, Giovanni;
    • Monin, Marie-Lorraine;
    • Davoine, Claire-Sophie;
    • Mochel, Fanny;
    • Labauge, Pierre;
    • Ewenczyk, Claire;
    • Ding, Jinhui;
    • Gibbs, J. Raphael;
    • Hannequin, Didier;
    • Melki, Judith;
    • Toutain, Annick;
    • Laugel, Vincent;
    • Forlani, Sylvie;
    • Charles, Perrine;
    • Broussolle, Emmanuel;
    • Thobois, Stéphane;
    • Afenjar, Alexandra;
    • Anheim, Mathieu
    Publication type:
    Article

  • A 22-Year Follow-up Study of Long-term Cardiac Outcome and Predictors of Survival in Friedreich Ataxia.

    Published in:
    JAMA Neurology, 2015, v. 72, n. 11, p. 1334, doi. 10.1001/jamaneurol.2015.1855
    By:
    • Pousset, Francoise;
    • Legrand, Lise;
    • Monin, Marie-Lorraine;
    • Ewenczyk, Claire;
    • Charles, Perrine;
    • Komajda, Michel;
    • Brice, Alexis;
    • Pandolfo, Massimo;
    • Isnard, Richard;
    • Tezenas du Montcel, Sophie;
    • Durr, Alexandra
    Publication type:
    Article

  • TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment.

    Published in:
    Brain: A Journal of Neurology, 2014, v. 137, n. 10, p. 2657, doi. 10.1093/brain/awu202
    By:
    • Delplanque, Jérôme;
    • Devos, David;
    • Huin, Vincent;
    • Genet, Alexandre;
    • Sand, Olivier;
    • Moreau, Caroline;
    • Goizet, Cyril;
    • Charles, Perrine;
    • Anheim, Mathieu;
    • Monin, Marie Lorraine;
    • Buée, Luc;
    • Destée, Alain;
    • Grolez, Guillaume;
    • Delmaire, Christine;
    • Dujardin, Kathy;
    • Dellacherie, Delphine;
    • Brice, Alexis;
    • Stevanin, Giovanni;
    • Strubi-Vuillaume, Isabelle;
    • Dürr, Alexandra
    Publication type:
    Article

  • Oral mobility reflects rate of progression in advanced Friedreich's ataxia.

    Published in:
    Annals of Clinical & Translational Neurology, 2019, v. 6, n. 9, p. 1888, doi. 10.1002/acn3.50879
    By:
    • Borel, Stéphanie;
    • Gatignol, Peggy;
    • Smail, Mustapha;
    • Monin, Marie‐Lorraine;
    • Ewenczyk, Claire;
    • Bouccara, Didier;
    • Durr, Alexandra
    Publication type:
    Article

  • Mutations in KCND3 cause spinocerebellar ataxia type 22.

    Published in:
    Annals of Neurology, 2012, v. 72, n. 6, p. 859, doi. 10.1002/ana.23701
    By:
    • Lee, Yi-Chung;
    • Durr, Alexandra;
    • Majczenko, Karen;
    • Huang, Yen-Hua;
    • Liu, Yu-Chao;
    • Lien, Cheng-Chang;
    • Tsai, Pei-Chien;
    • Ichikawa, Yaeko;
    • Goto, Jun;
    • Monin, Marie-Lorraine;
    • Li, Jun Z.;
    • Chung, Ming-Yi;
    • Mundwiller, Emeline;
    • Shakkottai, Vikram;
    • Liu, Tze-Tze;
    • Tesson, Christelle;
    • Lu, Yi-Chun;
    • Brice, Alexis;
    • Tsuji, Shoji;
    • Burmeister, Margit
    Publication type:
    Article

  • Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases.

    Published in:
    Journal of Neurology, 2016, v. 263, n. 7, p. 1314, doi. 10.1007/s00415-016-8112-5
    By:
    • Mallaret, Martial;
    • Renaud, Mathilde;
    • Redin, Claire;
    • Drouot, Nathalie;
    • Muller, Jean;
    • Severac, Francois;
    • Mandel, Jean;
    • Hamza, Wahiba;
    • Benhassine, Traki;
    • Ali-Pacha, Lamia;
    • Tazir, Meriem;
    • Durr, Alexandra;
    • Monin, Marie-Lorraine;
    • Mignot, Cyril;
    • Charles, Perrine;
    • Maldergem, Lionel;
    • Chamard, Ludivine;
    • Thauvin-Robinet, Christel;
    • Laugel, Vincent;
    • Burglen, Lydie
    Publication type:
    Article

  • Predictors of Left Ventricular Dysfunction in Friedreich's Ataxia in a 16-Year Observational Study.

    Published in:
    American Journal of Cardiovascular Drugs, 2020, v. 20, n. 2, p. 209, doi. 10.1007/s40256-019-00375-z
    By:
    • Legrand, Lise;
    • Diallo, Abdourahmane;
    • Monin, Marie-Lorraine;
    • Ewenczyk, Claire;
    • Charles, Perrine;
    • Isnard, Richard;
    • Vicaut, Eric;
    • Montalescot, Gilles;
    • Durr, Alexandra;
    • Pousset, Francoise
    Publication type:
    Article

  • Multiparametric characterization of white matter alterations in early stage Huntington disease.

    Published in:
    Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-92532-1
    By:
    • Adanyeguh, Isaac M.;
    • Branzoli, Francesca;
    • Delorme, Cécile;
    • Méneret, Aurélie;
    • Monin, Marie-Lorraine;
    • Luton, Marie-Pierre;
    • Durr, Alexandra;
    • Sabidussi, Emanoel;
    • Mochel, Fanny
    Publication type:
    Article

  • Mutations in TGM6 induce the unfolded protein response in SCA35.

    Published in:
    Human Molecular Genetics, 2017, v. 26, n. 19, p. 3749, doi. 10.1093/hmg/ddx259
    By:
    • Tripathy, Debasmita;
    • Vignoli, Beatrice;
    • Ramesh, Nandini;
    • Polanco, Maria Jose;
    • Coutelier, Marie;
    • Stephen, Christopher D.;
    • Canossa, Marco;
    • Monin, Marie-Lorraine;
    • Aeschlimann, Pascale;
    • Turberville, Shannon;
    • Aeschlimann, Daniel;
    • Schmahmann, Jeremy D.;
    • Hadjivassiliou, Marios;
    • Durr, Alexandra;
    • Pandey, Udai B.;
    • Pennuto, Maria;
    • Basso, Manuela
    Publication type:
    Article

  • Huntington's Disease with Small CAG Repeat Expansions.

    Published in:
    Movement Disorders, 2023, v. 38, n. 7, p. 1294, doi. 10.1002/mds.29427
    By:
    • Heinzmann, Anna;
    • Sayah, Sabrina;
    • Lejeune, François‐Xavier;
    • Hahn, Valérie;
    • Teichmann, Marc;
    • Monin, Marie‐Lorraine;
    • Marchionni, Enrica;
    • Gérard, Fleur;
    • Charles, Perrine;
    • Pariente, Jérémie;
    • Durr, Alexandra
    Publication type:
    Article

  • Survival and severity in dominant cerebellar ataxias.

    Published in:
    Annals of Clinical & Translational Neurology, 2015, v. 2, n. 2, p. 202, doi. 10.1002/acn3.156
    By:
    • Monin, Marie‐Lorraine;
    • Tezenas du Montcel, Sophie;
    • Marelli, Cecilia;
    • Cazeneuve, Cecile;
    • Charles, Perrine;
    • Tallaksen, Chantal;
    • Forlani, Sylvie;
    • Stevanin, Giovanni;
    • Brice, Alexis;
    • Durr, Alexandra
    Publication type:
    Article