Sandra Mercier

6PUBLICATIONS
78CO-AUTHORS
Neurology and neuromuscular diseasesDevelopmental genetics (incl. sex determination)Gene and molecular therapyCell and nuclear division
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Journal

Publications (6)

|Feb 28, 2025
Acid Ceramidase Deficiency: New Insights on SMA-PME Natural History, Biomarkers, and <i>In Cell</i> Enzyme Activity Assay.

Silvestre Cuinat, Paul Rollier, Katheryn Grand

|Sep 10, 2024
Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Matthew Jensen, Corrine Smolen, Anastasia Tyryshkina

|May 01, 2024
Expanding the Spectrum of Congenital Myopathy Linked to Variants in the <i>MYBPC1</i> Gene: A Clinical Report.

Pierre-Louis Lanvin, Dong Li, Solène Conrad

|Feb 27, 2024
[Neurodevelopmental proteasomopathies: New disorders caused by proteasome dysfunction].

Silvestre Cuinat, Stéphane Bézieau, Wallid Deb

|May 18, 2022
Fatal thrombotic microangiopathy case following adeno-associated viral SMN gene therapy.

Julia Guillou, Alice de Pellegars, Florence Porcheret

|Apr 03, 2021
Robust Detection of Somatic Mosaicism and Repeat Interruptions by Long-Read Targeted Sequencing in Myotonic Dystrophy Type 1.

Antoine Mangin, Laure de Pontual, Yu-Chih Tsai

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Frequent Collaborators

2 joint publications

Mathilde Nizon

2 joint publications

Yann Péréon

2 joint publications

Silvestre Cuinat

2 joint publications

Marie Vincent