Chantal Weber
Illkirch-graffenstaden, 67400, France
Last Updated: 09/26/2026
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Found 8 publications
Disrupted transcriptional networks regulated by CHD1L during neurodevelopment underlie the mirrored neuroanatomical and growth phenotypes of the 1q21.1 copy number variant.
Journal: Nucleic acids research
Published: January 15, 2025
Assessing sign language comprehension in adults with intellectual disability and deafness.
Journal: Journal of deaf studies and deaf education
Published: September 21, 2024
The cohesin ATPase cycle is mediated by specific conformational dynamics and interface plasticity of SMC1A and SMC3 ATPase domains.
Journal: Cell reports
Published: December 15, 2023
Development of a Social Communication Questionnaire (QSC-ID) for People With Intellectual Disability in a Deaf Sample: A Pilot and Feasibility Study.
Journal: Frontiers in psychiatry
Published: August 09, 2021
SCA7 Mouse Cerebellar Pathology Reveals Preferential Downregulation of Key Purkinje Cell-Identity Genes and Shared Disease Signature with SCA1 and SCA2.
Journal: The Journal of neuroscience : the official journal of the Society for Neuroscience
Published: July 15, 2020
Loss of zebrafish Ataxin-7, a SAGA subunit responsible for SCA7 retinopathy, causes ocular coloboma and malformation of photoreceptors.
Journal: Human molecular genetics
Published: August 01, 2018
A novel function of Huntingtin in the cilium and retinal ciliopathy in Huntington's disease mice.
Journal: Neurobiology of disease
Published: April 30, 2015
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Last Updated: 09/26/2026