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Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies.
Published in:
Journal of Neuromuscular Diseases, 2021, v. 8, n. 4, p. 633, doi. 10.3233/JND-200577
By:
- Villar-Quiles, Rocío N.;
- Donkervoort, Sandra;
- de Becdelièvre, Alix;
- Gartioux, Corine;
- Jobic, Valérie;
- Foley, A. Reghan;
- McCarty, Riley M.;
- Ying Hu;
- Menassa, Rita;
- Michel, Laurence;
- Gousse, Gaelle;
- Lacour, Arnaud;
- Petiot, Philippe;
- Streichenberger, Nathalie;
- Choumert, Ariane;
- Declerck, Lea;
- Urtizberea, J. A.;
- Sole, Guilhem;
- Furby, Alain;
- Cerino, Matthieu
Publication type:
Article
ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy.
Published in:
2020
By:
- Villar‐Quiles, Rocío N.;
- Catervi, Fabio;
- Cabet, Eva;
- Juntas‐Morales, Raul;
- Genetti, Casie A.;
- Gidaro, Teresa;
- Koparir, Asuman;
- Yüksel, Adnan;
- Coppens, Sandra;
- Deconinck, Nicolas;
- Pierce‐Hoffman, Emma;
- Lornage, Xavière;
- Durigneux, Julien;
- Laporte, Jocelyn;
- Rendu, John;
- Romero, Norma B.;
- Beggs, Alan H.;
- Servais, Laurent;
- Cossée, Mireille;
- Olivé, Montse
Publication type:
journal article
Analysis of the Relationship between the Month of Birth and Risk of Multiple Sclerosis in a Spanish Population.
Published in:
European Neurology, 2016, v. 76, n. 5/6, p. 202, doi. 10.1159/000449246
By:
- Villar-Quiles, Rocío N.;
- Matías-Guiu, Jordi A.;
- Ortega, Gloria;
- González-Suárez, Inés;
- Oreja-Guevara, Celia;
- Matías-Guiu, Jorge
Publication type:
Article
Immununochemical Markers of the Amyloid Cascade in the Hippocampus in Motor Neuron Diseases.
Published in:
Frontiers in Neurology, 2016, v. 7, p. 1, doi. 10.3389/fneur.2016.00195
By:
- Gómez-Pinedo, Ulises;
- Villar-Quiles, Rocio N.;
- Galán, Lucia;
- Matías-Guiu, Jordi A.;
- Benito-Martin, Maria S.;
- Guerrero-Sola, Antonio;
- Moreno-Ramos, Teresa;
- Matías-Guiu, Jorge
Publication type:
Article

Found: 4

Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies.

ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy.

Analysis of the Relationship between the Month of Birth and Risk of Multiple Sclerosis in a Spanish Population.

Immununochemical Markers of the Amyloid Cascade in the Hippocampus in Motor Neuron Diseases.