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Biomolecules|October 23, 2021
Description of Joint Alterations Observed in a Family Carrying p.Asn453Ser <i>COMP</i> Variant: Clinical Phenotypes, In Silico Prediction of Functional Impact on <i>COMP</i> Protein and Stability, and Review of the LiteratureQuitterie Rochoux, Jana Sopkova-de Oliveira Santos, Christian Marcelli, et al.
Frontiers in Oncology|July 23, 2024
Prognostic value of HPV circulating tumor DNA detection and quantification in locally advanced cervical cancerLudivine Beaussire-Trouvay, Orianne Duhamel, Anne Perdrix, et al.
Neurobiology of Disease|May 16, 2008
Deletion of the progranulin gene in patients with frontotemporal lobar degeneration or Parkinson diseaseAnne Rovelet-Lecrux, Vincent Deramecourt, Solenn Legallic, et al.
Nature Genetics|December 22, 2005
APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathyAnne Rovelet-Lecrux, Didier Hannequin, Gregory Raux, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|March 16, 2016
The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASDAnne Claire Richard, Anne Rovelet-Lecrux, Elsa Delaby, et al.
Journal of Molecular Neuroscience : MN|March 8, 2014
PDGFB partial deletion: a new, rare mechanism causing brain calcification with leukoencephalopathyGaël Nicolas, Anne Rovelet-Lecrux, Cyril Pottier, et al.
Acta Neuropathologica Communications|December 19, 2021
Impaired SorLA maturation and trafficking as a new mechanism for SORL1 missense variants in Alzheimer diseaseAnne Rovelet-Lecrux, Sebastien Feuillette, Laetitia Miguel, et al.
Neurobiology of Disease|May 3, 2017
Deletion of exons 9 and 10 of the Presenilin 1 gene in a patient with Early-onset Alzheimer Disease generates longer amyloid seedsKilan Le Guennec, Sarah Veugelen, Olivier Quenez, et al.
European Journal of Human Genetics : EJHG|March 3, 2024
Upstream open reading frame-introducing variants in patients with primary familial brain calcificationAnne Rovelet-Lecrux, Antoine Bonnevalle, Olivier Quenez, et al.
European Journal of Human Genetics : EJHG|February 13, 2014
A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystoniaGaël Nicolas, Agnès Jacquin, Christel Thauvin-Robinet, et al.
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