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Motor axonal neuropathy associated with GNE mutations.
Published in:
Muscle & Nerve, 2021, v. 63, n. 3, p. 396, doi. 10.1002/mus.27102
By:
- Grecu, Nicolae;
- Villa, Luisa;
- Cavalli, Michele;
- Ristaino, Antoine;
- Choumert, Ariane;
- Butori, Catherine;
- Salviati, Leonardo;
- Puma, Angela;
- Krahn, Martin;
- Cerino, Mathieu;
- Sacconi, Sabrina
Publication type:
Article
Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-023-03008-6
By:
- Salort-Campana, Emmanuelle;
- Solé, Guilhem;
- Magot, Armelle;
- Tard, Céline;
- Noury, Jean-Baptiste;
- Behin, Anthony;
- De La Cruz, Elisa;
- Boyer, François;
- Lefeuvre, Claire;
- Masingue, Marion;
- Debergé, Louise;
- Finet, Armelle;
- Brison, Mélanie;
- Spinazzi, Marco;
- Pegat, Antoine;
- Sacconi, Sabrina;
- Malfatti, Edoardo;
- Choumert, Ariane;
- Bellance, Rémi;
- Bedat-Millet, Anne-Laure
Publication type:
Article
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
Autosomal dominant segregation of CAPN3 c.598_612del15 associated with a mild form of calpainopathy.
Published in:
Annals of Clinical & Translational Neurology, 2020, v. 7, n. 12, p. 2538, doi. 10.1002/acn3.51193
By:
- Cerino, Mathieu;
- Bartoli, Marc;
- Riccardi, Florence;
- Le Goanvic, Brigitte;
- Blanck, Véronique;
- Salvi, Alexandra;
- Lévy, Nicolas;
- Krahn, Martin;
- Choumert, Ariane
Publication type:
Article
European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A).
Published in:
Journal of Neurology, 2020, v. 267, n. 1, p. 45, doi. 10.1007/s00415-019-09539-y
By:
- Barp, Andrea;
- Laforet, Pascal;
- Bello, Luca;
- Tasca, Giorgio;
- Vissing, John;
- Monforte, Mauro;
- Ricci, Enzo;
- Choumert, Ariane;
- Stojkovic, Tanya;
- Malfatti, Edoardo;
- Pegoraro, Elena;
- Semplicini, Claudio;
- Stramare, Roberto;
- Scheidegger, Olivier;
- Haberlova, Jana;
- Straub, Volker;
- Marini-Bettolo, Chiara;
- Løkken, Nicoline;
- Diaz-Manera, Jordi;
- Urtizberea, Jon A.
Publication type:
Article
Clinical and electrophysiological characteristics of women with X‐linked Charcot–Marie–Tooth disease.
Published in:
European Journal of Neurology, 2023, v. 30, n. 10, p. 3265, doi. 10.1111/ene.15937
By:
- Barbat du Closel, Luce;
- Bonello‐Palot, Nathalie;
- Péréon, Yann;
- Echaniz‐Laguna, Andoni;
- Camdessanche, Jean Philippe;
- Nadaj‐Pakleza, Aleksandra;
- Chanson, Jean‐Baptiste;
- Frachet, Simon;
- Magy, Laurent;
- Cassereau, Julien;
- Cintas, Pascal;
- Choumert, Ariane;
- Devic, Perrine;
- Leonard Louis, Sarah;
- Gravier Dumonceau, Robinson;
- Delmont, Emilien;
- Salort‐Campana, Emmanuelle;
- Bouhour, Françoise;
- Latour, Philippe;
- Stojkovic, Tanya
Publication type:
Article
G303V tau mutation presenting with progressive supranuclear palsy-like features.
Published in:
Movement Disorders, 2012, v. 27, n. 4, p. 581, doi. 10.1002/mds.24060
By:
- Choumert, Ariane;
- Poisson, Alice;
- Honnorat, Jérôme;
- Le Ber, Isabelle;
- Camuzat, Agnes;
- Broussolle, Emmanuel;
- Thobois, Stéphane
Publication type:
Article

Found: 7

Motor axonal neuropathy associated with GNE mutations.

Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments.

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

Autosomal dominant segregation of CAPN3 c.598_612del15 associated with a mild form of calpainopathy.

European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A).

Clinical and electrophysiological characteristics of women with X‐linked Charcot–Marie–Tooth disease.

G303V tau mutation presenting with progressive supranuclear palsy-like features.