Kolexia
Villar Quiles Rocio Nur Neurologie
Villar Quiles Rocio Nur
Neurologie
Hôpital Pitie Salpetriere
Paris, France
41 Activités
0 Followers
Scientifique
Digital
Production scientifique
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Expertise
Sujets de recherche
{{person.topmesh1.name}} Maladies musculaires Dystrophies musculaires Dystrophies musculaires des ceintures Troubles de l'homéostasie des protéines Leucoencéphalopathies Maladies neuromusculaires Maladie de Charcot-Marie-Tooth Démence frontotemporale Myosite

Collaborateurs

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Ferreiro-Sieiro Ana
Ferreiro-Sieiro Ana
Hôpital Pitie Salpetriere, Paris, France
Romero Norma Beatriz
Romero Norma Beatriz
Hôpital Pitie Salpetriere, Paris, France
Nadaj-Pakleza Aleksandra
Nadaj-Pakleza Aleksandra
Hôpital Hautepierre, Strasbourg, France
Laforet Pascal
Laforet Pascal
Hôpital Raymond-Poincaré, Garches, France

Industries

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B3TSI
23 collaboration(s)
Dernière en 2023
LUPIN ATLANTIS HOLDINGS SA
2 collaboration(s)
Dernière en 2023
Sanofi
1 collaboration(s)
Dernière en 2021
LFB
1 collaboration(s)
Dernière en 2023

Dernières activités

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Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP‑mediated disease reveals characteristic features useful for diagnosis.
Journal of neurology   13 février 2024
P156 Muscle biopsy findings in a large cohort of patients affected by valosin containing protein disease: preliminary analysis of the international multicentric VCP study
Neuromuscular disorders : NMD   01 octobre 2023
Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis.
Journal of neurology   21 août 2023
Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy.
Neurology. Genetics   15 août 2023
Provisional practice recommendation for the management of myopathy in VCP-associated multisystem proteinopathy.
Annals of clinical and translational neurology   07 avril 2023
LAMA2-Related Muscular Dystrophy: The Importance of Accurate Phenotyping and Brain Imaging in the Diagnosis of LGMD.
Journal of neuromuscular diseases   10 janvier 2023
Diagnostic yield of a practical electrodiagnostic protocol discriminating between different congenital myasthenic syndromes.
Neuromuscular disorders : NMD   09 octobre 2022
P.157 Dominant HSPB6 mutation in a myopathy patient
Neuromuscular disorders : NMD   01 octobre 2022
Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.
Journal of neurology, neurosurgery, and psychiatry   27 juillet 2022
Phenotypical variability and atypical presentations in a French cohort of Andersen-Tawil syndrome.
European journal of neurology   04 mai 2022