Skip to content
Log in
Sponsored AI AM CLAUDE, A Beginner's Guide: Learn the basics of working with AI AI AM CLAUDE, A Beginner's Guide: Learn the basics of working with AI

Author

T. Courtin

h-index 15 View on Semantic Scholar

We have 3 of 47 papers

We haven’t gathered this author’s papers yet. Follow them and we’ll fetch their work.

Not the right person? Other researchers publish under this name.

Sep 2026

Exploring the genetic spectrum of parkinsonism in Brazil.

BACKGROUND Parkinsonism is a motor syndrome traditionally considered sporadic, but genetic factors are increasingly recognized. While next-generation sequencing (NGS) has identified pathogenic variants in Parkinson's disease (PD) and related disorders, data from admixed populations like Brazilians remain limited. This...

M. G. Ferreira, C. Tesson, T. Courtin et al. · 0 citations
Sep 2026

Monoallelic variants in BRSK1 are associated with a neurodevelopmental disorder with or without epilepsy.

Brain-specific serine/threonine kinase (BRSK1; synapses of amphids defective [SAD]-B) encodes an AMP-activated protein kinase (AMPK)-related serine/threonine kinase required for neuronal polarization and synaptic function. An individual with a variant in BRSK1 was identified in the Texome Project, which provides genomi...

Ming-Xi Deng, Meng-Qi Ma, Vanessa A. Gomez et al. · 0 citations
Jun 2026

RBMX functional retrocopy safeguards brain development in a species-dependent context.

It is demonstrated that RBMX and RBMXL1 share protein and RNA partners and act redundantly in brain development, with RBMXL1 buffering the impact of RBMX deficiency and establishing RBMXL1 as a functional paralog of RBMX that is likely buffering deleterious variation in a context- and dosage-dependent manner.

P. Tilliole, C. Mattausch, Peggy Tilly et al. · 0 citations

We use cookies to run the site and, with your consent, for analytics and to show ads. See our Cookie Policy.