Diana Rodriguez

6PUBLICATIONS
171CO-AUTHORS
Neurology and neuromuscular diseasesMedical infection agents (incl. prions)Molecular targetsPodiatryInfant and child health
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Publications (6)

|May 16, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Caroline Nava, Benjamin Cogne, Amandine Santini

|Feb 23, 2023
Medullary Tegmental Cap Dysplasia: Fetal and Postnatal Presentations of a Unique Brainstem Malformation.

M Gafner, C Garel, Z Leibovitz

|Sep 21, 2021
Implication of folate deficiency in CYP2U1 loss of function.

Claire Pujol, Anne Legrand, Livia Parodi

|Jul 08, 2021
Area Postrema Syndrome as the Initial Presentation of Alexander Disease.

Florence Renaldo, François Chalard, Stephanie Valence

|Jun 20, 2020
Deciphering the natural history of SCA7 in children.

M G Bah, D Rodriguez, C Cazeneuve

|Aug 25, 2019
One NF1 Mutation may Conceal Another.

Laurence Pacot, Cyril Burin des Roziers, Ingrid Laurendeau

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Frequent Collaborators

2 joint publications

Fanny Mochel

2 joint publications

Cyril Mignot

2 joint publications

Alexandra Durr

2 joint publications

Claire Ewenczyk