List of works - Vincent Cantagrel

A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.

scientific article published on 17 September 2010

AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder

scientific article

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

scientific article

CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration

scientific article

De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene

scientific article published on 01 July 2018

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

scientific article published on March 2016

Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males

scientific article

Faulty initiation of proteoglycan synthesis causes cardiac and joint defects

scientific article

From glycosylation disorders to dolichol biosynthesis defects: a new class of metabolic diseases

scientific article published on 08 March 2011

Genotype-phenotype correlations in individuals with pathogenic RERE variants.

scientific article published on 13 January 2018

High N-glycan multiplicity is critical for neuronal adhesion and sensitizes the developing cerebellum to N-glycosylation defect

scientific article published on 12 October 2018

Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity

scientific article

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

scientific article published on 07 May 2021

MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia

scientific article published on 30 November 2020

Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities

scientific article

Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome

scientific article

Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome

scientific article published on 22 March 2012

Normal glycosylation screening does not rule out SRD5A3-CDG ⬇️

scientific article published on July 13, 2011

Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly

SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder

scientific article

Spatiotemporal expression in mouse brain of Kiaa2022, a gene disrupted in two patients with severe mental retardation.

scientific article

Truncation of NHEJ1 in a patient with polymicrogyria

scientific article

Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population

scientific article published on 4 May 2016

WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells

scientific article published on October 2017

List of works by Vincent Cantagrel

A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.

AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration

De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males

Faulty initiation of proteoglycan synthesis causes cardiac and joint defects

From glycosylation disorders to dolichol biosynthesis defects: a new class of metabolic diseases

Genotype-phenotype correlations in individuals with pathogenic RERE variants.

High N-glycan multiplicity is critical for neuronal adhesion and sensitizes the developing cerebellum to N-glycosylation defect

Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia

Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities

Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome

Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome

Normal glycosylation screening does not rule out SRD5A3-CDG ⬇️

Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly

SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder

Spatiotemporal expression in mouse brain of Kiaa2022, a gene disrupted in two patients with severe mental retardation.

Truncation of NHEJ1 in a patient with polymicrogyria

Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population

WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells