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Diana Rodriguez

6PUBLICATIONS

171CO-AUTHORS

Neurology and neuromuscular diseasesMedical infection agents (incl. prions)Molecular targetsPodiatryInfant and child health

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Publications (6)

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|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 <i>NF1</i> 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

2 joint publications

Gaetan Lesca

1 joint publications

M G Bah

1 joint publications

D Devos

1 joint publications

A Roubertie

1 joint publications

I Meunier

1 joint publications

A Curie

Frequent Collaborators

2 joint publications

Fanny Mochel

2 joint publications

Cyril Mignot

2 joint publications

Alexandra Durr

2 joint publications

Claire Ewenczyk

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