Pauline Gaignard

5PUBLICATIONS
73CO-AUTHORS
Medical infection agents (incl. prions)Cell and nuclear divisionInfant and child healthNeurology and neuromuscular diseasesVeterinary pathology
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Publications (5)

|Jan 15, 2026
Clinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort Study.

Piervito Lopriore, Zeynep Ünlütürk, Thomas Klopstock

|Feb 08, 2025
Mitochondrial DNA or Genomic DNA Variant(s): Utility of Exhaustive Sequencing in Leigh Syndrome.

Pauline Gaignard, Pierre-Hadrien Becker, Anne-Frederique Dessein

|Jul 08, 2024
Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency.

Agnès Rötig, Pauline Gaignard, Giulia Barcia

|Nov 08, 2021
Adult Cerebellar Ataxia, Axonal Neuropathy, and Sensory Impairments Caused by Biallelic SCO2 Variants.

Benoit Rucheton, Claire Ewenczyk, Pauline Gaignard

|Apr 05, 2017
Bovine and murine models highlight novel roles for SLC25A46 in mitochondrial dynamics and metabolism, with implications for human and animal health.

Amandine Duchesne, Anne Vaiman, Johan Castille

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Frequent Collaborators

2 joint publications

Jean-Michel Vallat

2 joint publications

Agnès Rötig

2 joint publications

Manuel Schiff

1 joint publications

Johan Castille