Arthur Sorlin

20PUBLICATIONS
224CO-AUTHORS
Neurology and neuromuscular diseasesMedical devicesQuaternary environmentsEpigenetics (incl. genome methylation and epigenomics)Cross-sectional analysis
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Publications (20)

|Nov 26, 2025
Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

Sébastien Küry, Janelle E Stanton, Geeske M van Woerden

|Oct 29, 2025
Newly Identified TPI Deficiency Treatments Function for Novel Disease-Causing Allele, <i>TPI1<sup>R5G</sup></i>.

Joseph R Figura, Presley Roberts, Riley Sawka

|Mar 05, 2025
ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature.

Clara Houdayer, Kathleen Rooney, Liselot van der Laan

|Feb 18, 2025
A postzygotic GNA13 variant upregulates the RHOA/ROCK pathway and alters melanocyte function in a mosaic skin hypopigmentation syndrome.

Rana El Masri, Alberto Iannuzzo, Paul Kuentz

|May 27, 2024
Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study).

Eléonore Viora-Dupont, Françoise Robert, Aline Chassagne

|Jan 31, 2024
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene <i>PSMC5</i> in neurodevelopmental proteasomopathies.

Sébastien Küry, Janelle E Stanton, Geeske van Woerden

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Frequent Collaborators

9 joint publications

Antonio Vitobello

8 joint publications

Christophe Philippe

8 joint publications

Paul Kuentz

7 joint publications

Ange-Line Bruel