Rocio-Nur Villar-Quiles

8PUBLICATIONS
23CO-AUTHORS
Neurology and neuromuscular diseasesCell physiologyMedical molecular engineering of nucleic acids and proteinsMolecular targets
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Publications (8)

|Jul 28, 2026
Expanding the phenotypic spectrum of COL6-related diseases: Motor neuropathy-like and neuromyopathy associated with COL6A3 c.7447A>G.

|Feb 25, 2026
Congenital core myopathy linked to SOX5: Expanding the phenotypical spectrum of Lamb-Shaffer syndrome.

Katia Staedler, Anna Gerasimenko, Caroline Nava

|Feb 02, 2026
Active-NDM: Development of a patient-reported outcome questionnaire to measure the impact of non-dystrophic myotonia on activity of daily living.

Ahmed Amara, Michele Cavalli, Andra Ezaru

|Nov 26, 2025
C-terminal extension of HSPB6 in a family with myopathy and cataract.

Jaakko Sarparanta, Per Harald Jonson, Anna Vihola

|Jan 10, 2025
Improving Examination Skills in Neuromuscular Disorders Through an Educational Video.

Rocio Nur Villar-Quiles, Jebrane Bouaoud, Jean Philippe Foy

|May 11, 2023
Caveolinopathy: Clinical, histological, and muscle imaging features and follow-up in a multicenter retrospective cohort.

Edouard Berling, Camille Verebi, Nadia Venturelli

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Frequent Collaborators

1 joint publications

John Rendu

1 joint publications

Alan H Beggs

1 joint publications

Mireille Cossée

1 joint publications

Camille Verebi