about
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndromeCLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegenerationAMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorderFaulty initiation of proteoglycan synthesis causes cardiac and joint defectsMutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalitiesBiallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunctionSRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorderDisruption of a new X linked gene highly expressed in brain in a family with two mentally retarded malesTruncation of NHEJ1 in a patient with polymicrogyria.Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome.Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred populationDisruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.From glycosylation disorders to dolichol biosynthesis defects: a new class of metabolic diseases.Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity.WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells.A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.Genotype-phenotype correlations in individuals with pathogenic RERE variants.Spatiotemporal expression in mouse brain of Kiaa2022, a gene disrupted in two patients with severe mental retardation.Recurrent KIF5C mutation leading to frontal pachygyria without microcephalyHigh N-glycan multiplicity is critical for neuronal adhesion and sensitizes the developing cerebellum to N-glycosylation defectDe novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene
P50
Q21710711-B3349D68-55FC-465B-935E-B5B1D854CD79Q24295268-6B603EAE-CCA3-4EE2-9F87-BB6B9FF8149BQ24314272-7435321C-54FD-469C-9B63-BDF2E08EE008Q24314605-BDF4F0F5-E8DA-438E-BDA3-4F418E61F777Q24323215-DDE82F8F-3326-458D-B1A2-ECDC70356B6DQ24336179-C5D1F702-351B-4ED4-A03E-3C7B17E26F6AQ24338882-98ACB0B1-D7D6-43D5-ABB4-1A46AB9948E0Q24676259-763B0576-3C14-4C2E-8491-77EF20EFB8BCQ34595138-51CDB4E5-813C-4E71-85B1-1C419372650AQ35877816-A0886B68-DF2A-49D1-BB9E-E61C06EC3AB5Q36865263-3C89A6BA-A98A-43AE-9779-E7FF52BBB982Q36960018-B92D23E7-D174-4CA5-B12F-B28480662A8EQ37850729-BC917876-4A34-474A-9635-534EDE4FE163Q39774231-76316838-DEA8-4BD0-A78F-E928FBA16766Q41918179-A24BD410-2166-4501-A2CA-80BCAE7A4B62Q45574122-93AC466C-962A-4309-AEC0-EEB3CE14927AQ47866259-AF0D87BE-FFE5-4B7E-818A-11DD324FC94DQ48572046-9AF45D5B-46FC-4A4B-B3DE-E840D732B51CQ57199670-A2D33834-8B4C-4664-AF69-554C9C27EE8FQ57470844-FD8DD3EF-B8A6-4358-A592-CA5B2F4D55C9Q89022033-A0C1CECB-38F2-43B7-A0C7-0DEB591368D2
P50
description
hulumtues
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Vincent Cantagrel
@ast
Vincent Cantagrel
@en
Vincent Cantagrel
@es
Vincent Cantagrel
@fr
Vincent Cantagrel
@nl
Vincent Cantagrel
@sl
type
label
Vincent Cantagrel
@ast
Vincent Cantagrel
@en
Vincent Cantagrel
@es
Vincent Cantagrel
@fr
Vincent Cantagrel
@nl
Vincent Cantagrel
@sl
prefLabel
Vincent Cantagrel
@ast
Vincent Cantagrel
@en
Vincent Cantagrel
@es
Vincent Cantagrel
@fr
Vincent Cantagrel
@nl
Vincent Cantagrel
@sl
P1053
H-8698-2017
P106
P21
P31
P3829
P496
0000-0002-5180-4848