Mecp2 Deficiency Disrupts Norepinephrine and Respiratory Systems in Mice
2005 · Journal of Neuroscience · 288 citations
https://doi.org/10.1523/jneurosci.4373-05.2005
L
Laurent Villard
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Laurent Villard is an academic researcher from Centre National de la Recherche Scientifique. The author has contributed to research in topics: Genetics and Neurodevelopmental Disorders & Genomics and Rare Diseases & Autism Spectrum Disorder Research. The author has an h-index of 49, co-authored 268 publications.
ORCID: 0000-0001-6657-5008Papers by this author
worksSimilar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2
2013 · Orphanet Journal of Rare Diseases · 91 citations
https://doi.org/10.1186/1750-1172-8-80
The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature
2018 · Genetics in Medicine · 61 citations
https://doi.org/10.1038/s41436-018-0339-3
Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without<i>MECP2 </i>mutation: implications for the disease
2001 · Journal of Medical Genetics · 59 citations
https://doi.org/10.1136/jmg.38.7.435
Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability
2015 · Molecular Cytogenetics · 49 citations
https://doi.org/10.1186/s13039-015-0149-0
Severe offtarget effects following intravenous delivery of AAV9-MECP2 in a female mouse model of Rett syndrome
2020 · Neurobiology of Disease · 49 citations
https://doi.org/10.1016/j.nbd.2020.105235
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