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Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1
Published in:
Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 174, doi. 10.1186/s13023-014-0174-9
By:
- Dorboz, Imen;
- Coutelier, Marie;
- Bertrand, Anne T;
- Caberg, Jean-Hubert;
- Elmaleh-Bergès, Monique;
- Lainé, Jeanne;
- Stevanin, Giovanni;
- Bonne, Gisèle;
- Boespflug-Tanguy, Odile;
- Servais, Laurent
Publication type:
Article
Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1.
Published in:
2014
By:
- Dorboz, Imen;
- Coutelier, Marie;
- Bertrand, Anne T;
- Caberg, Jean-Hubert;
- Elmaleh-Bergès, Monique;
- Lainé, Jeanne;
- Stevanin, Giovanni;
- Bonne, Gisèle;
- Boespflug-Tanguy, Odile;
- Servais, Laurent
Publication type:
journal article
NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia.
Published in:
2022
By:
- Coutelier, Marie;
- Jacoupy, Maxime;
- Janer, Alexandre;
- Renaud, Flore;
- Auger, Nicolas;
- Saripella, Ganapathi-Varma;
- Ancien, François;
- Pucci, Fabrizio;
- Rooman, Marianne;
- Gilis, Dimitri;
- Larivière, Roxanne;
- Sgarioto, Nicolas;
- Valter, Rémi;
- Guillot-Noel, Léna;
- Ber, Isabelle Le;
- Sayah, Sabrina;
- Charles, Perrine;
- Nümann, Astrid;
- Pauly, Martje G;
- Helmchen, Christoph
Publication type:
journal article
Reply: Updated frequency analysis of spinocerebellar ataxia in China.
Published in:
2018
By:
- Coutelier, Marie;
- Brice, Alexis;
- Stevanin, Giovanni;
- Durr, Alexandra
Publication type:
Letter
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
Reply: ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.
Published in:
2016
By:
- Coutelier, Marie;
- Mochel, Fanny;
- Saudubray, Jean-Marie;
- Ottolenghi, Chris;
- Stevanin, Giovanni
Publication type:
commentary
ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.
Published in:
2016
By:
- Panza, Emanuele;
- Escamilla-Honrubia, Juan M.;
- Marco-Marín, Clara;
- Gougeard, Nadine;
- De Michele, Giuseppe;
- Morra, Vincenzo Brescia;
- Liguori, Rocco;
- Salviati, Leonardo;
- Donati, Maria Alice;
- Cusano, Roberto;
- Pippucci, Tommaso;
- Ravazzolo, Roberto;
- Németh, Andrea H.;
- Smithson, Sarah;
- Davies, Sally;
- Hurst, Jane A.;
- Bordo, Domenico;
- Rubio, Vicente;
- Seri, Marco;
- Coutelier, Marie
Publication type:
Letter
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.
Published in:
2015
By:
- Coutelier, Marie;
- Goizet, Cyril;
- Durr, Alexandra;
- Habarou, Florence;
- Morais, Sara;
- Dionne-Laporte, Alexandre;
- Feifei Tao;
- Konop, Juliette;
- Stoll, Marion;
- Charles, Perrine;
- Jacoupy, Maxime;
- Matusiak, Raphael;
- Alonso, Isabel;
- Tallaksen, Chantal;
- Mairey, Mathilde;
- Kennerson, Marina;
- Gaussen, Marion;
- Schule, Rebecca;
- Janin, Maxime;
- Morice-Picard, Fanny
Publication type:
journal article
Genome sequencing in families with congenital limb malformations.
Published in:
Human Genetics, 2021, v. 140, n. 8, p. 1229, doi. 10.1007/s00439-021-02295-y
By:
- Elsner, Jonas;
- Mensah, Martin A.;
- Holtgrewe, Manuel;
- Hertzberg, Jakob;
- Bigoni, Stefania;
- Busche, Andreas;
- Coutelier, Marie;
- de Silva, Deepthi C.;
- Elçioglu, Nursel;
- Filges, Isabel;
- Gerkes, Erica;
- Girisha, Katta M.;
- Graul-Neumann, Luitgard;
- Jamsheer, Aleksander;
- Krawitz, Peter;
- Kurth, Ingo;
- Markus, Susanne;
- Megarbane, Andre;
- Reis, André;
- Reuter, Miriam S.
Publication type:
Article
SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families.
Published in:
Neurodegenerative Diseases, 2017, v. 17, n. 4/5, p. 208, doi. 10.1159/000464445
By:
- Hammer, Monia B.;
- Ding, Jinhui;
- Mochel, Fanny;
- Eleuch-Fayache, Ghada;
- Charles, Perrine;
- Coutelier, Marie;
- Gibbs, J. Raphael;
- arepalli, Sampath K.;
- Chong, Sean B.;
- Hernandez, Dena G.;
- Majounie, Elisa;
- Clipman, Steven;
- Bouhlal, Yosr;
- Nehdi, Houda;
- Brice, alexis;
- Hentati, Faycal;
- Stevanin, Giovanni;
- amouri, Rim;
- Durr, alexandra;
- Singleton, andrew B.
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
Analysis of a pituitary tumour with histological features of central neurocytoma points towards the emergence of a new entity recognisable by a specific epigenetic signature.
Published in:
Neuropathology & Applied Neurobiology, 2024, v. 50, n. 1, p. 1, doi. 10.1111/nan.12948
By:
- Godfraind, Catherine;
- Marie, Coutelier;
- Pissaloux, Daniel;
- Fabien, Forest;
- Vandenbos, Fanny;
- Hasselblatt, Martin;
- Boutonnat, Jean;
- Aurélien, Coste;
- Sylvie, Lantuejoul;
- Anne, Mc Leer
Publication type:
Article
PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum.
Published in:
2014
By:
- Synofzik, Matthis;
- Gonzalez, Michael A;
- Lourenco, Charles Marques;
- Coutelier, Marie;
- Haack, Tobias B;
- Rebelo, Adriana;
- Hannequin, Didier;
- Strom, Tim M;
- Prokisch, Holger;
- Kernstock, Christoph;
- Durr, Alexandra;
- Schöls, Ludger;
- Lima-Martínez, Marcos M;
- Farooq, Amjad;
- Schüle, Rebecca;
- Stevanin, Giovanni;
- Marques Jr, Wilson;
- Züchner, Stephan;
- Marques, Wilson Jr
Publication type:
journal article
PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum.
Published in:
Brain: A Journal of Neurology, 2014, v. 137, n. 1, p. 69, doi. 10.1093/brain/awt326
By:
- Synofzik, Matthis;
- Gonzalez, Michael A.;
- Lourenco, Charles Marques;
- Coutelier, Marie;
- Haack, Tobias B.;
- Rebelo, Adriana;
- Hannequin, Didier;
- Strom, Tim M.;
- Prokisch, Holger;
- Kernstock, Christoph;
- Durr, Alexandra;
- Schöls, Ludger;
- Lima-Martínez, Marcos M.;
- Farooq, Amjad;
- Schüle, Rebecca;
- Stevanin, Giovanni;
- Marques, Wilson;
- Züchner, Stephan
Publication type:
Article
Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25.
Published in:
Annals of Neurology, 2022, v. 92, n. 1, p. 122, doi. 10.1002/ana.26366
By:
- Barbier, Mathieu;
- Bahlo, Melanie;
- Pennisi, Alessandra;
- Jacoupy, Maxime;
- Tankard, Rick M.;
- Ewenczyk, Claire;
- Davies, Kayli C.;
- Lino‐Coulon, Patricia;
- Colace, Claire;
- Rafehi, Haloom;
- Auger, Nicolas;
- Ansell, Brendan R. E.;
- van der Stelt, Ivo;
- Howell, Katherine B.;
- Coutelier, Marie;
- Amor, David J.;
- Mundwiller, Emeline;
- Guillot‐Noël, Lena;
- Storey, Elsdon;
- Gardner, R. J. McKinlay
Publication type:
Article
The first de novo mutation in the neuroserpin gene.
Published in:
FASEB Journal, 2007, v. 21, n. 5, p. A30
By:
- Godfraind, Catherine;
- Coutelier, Marie;
- Andries, Sibille;
- Van Rijckevorsel, Germaine;
- Scaravilli, Francesco;
- Vikkula, Miikka
Publication type:
Article
Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing.
Published in:
Journal of Neurology, 2015, v. 262, n. 10, p. 2382, doi. 10.1007/s00415-015-7725-4
By:
- Coutelier, Marie;
- Stevanin, Giovanni;
- Brice, Alexis
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
Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation.
Published in:
Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-33066-x
By:
- Holtgrewe, Manuel;
- Knaus, Alexej;
- Hildebrand, Gabriele;
- Pantel, Jean-Tori;
- Santos, Miguel Rodriguez de los;
- Neveling, Kornelia;
- Goldmann, Jakob;
- Schubach, Max;
- Jäger, Marten;
- Coutelier, Marie;
- Mundlos, Stefan;
- Beule, Dieter;
- Sperling, Karl;
- Krawitz, Peter Michael
Publication type:
Article
Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations.
Published in:
Neurogenetics, 2021, v. 22, n. 1, p. 71, doi. 10.1007/s10048-020-00633-2
By:
- Méreaux, Jean-Loup;
- Firanescu, Cristina;
- Coarelli, Giulia;
- Kvarnung, Malin;
- Rodrigues, Rita;
- Pegoraro, Elena;
- Tazir, Meriem;
- Taithe, Frédéric;
- Valter, Rémi;
- Huin, Vincent;
- Lidström, Kristina;
- Banneau, Guillaume;
- Morais, Sara;
- Parodi, Livia;
- Coutelier, Marie;
- Papin, Mélanie;
- Svenningsson, Per;
- Azulay, Jean-Philippe;
- Alonso, Isabel;
- Nilsson, Daniel
Publication type:
Article
Differential expression of tissue-restricted antigens among mTEC is associated with distinct autoreactive T cell fates.
Published in:
Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-17544-3
By:
- Lebel, Marie-Ève;
- Coutelier, Marie;
- Galipeau, Maria;
- Kleinman, Claudia L.;
- Moon, James J.;
- Melichar, Heather J.
Publication type:
Article

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