Lista de obras - Vincent Cantagrel - Dominio Público Uruguay

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

artículo científico publicado en 2010

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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2016

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

artículo científico publicado en 2004

Faulty initiation of proteoglycan synthesis causes cardiac and joint defects

artículo científico publicado en 2011

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.

artículo científico publicado en 2018

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

artículo científico publicado en 2018

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

artículo científico publicado en 2014

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

artículo científico publicado en 2021

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

artículo científico publicado en 2020

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

artículo científico publicado en 2013

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

artículo científico publicado en 2008

Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome

artículo científico publicado en 2012

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