Vincent Cantagrel

发表

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

Colin A. Johnson, I. Glass, F. Brancati, 2008, American journal of human genetics.

AMPD2 Regulates GTP Synthesis and Is Mutated in a Potentially Treatable Neurodegenerative Brainstem Disorder

S. Gabriel, E. Nickerson, R. Naviaux, 2013, Cell.

CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration

Xiang-Dong Fu, Frank Baas, Murat Gunel, 2014, Cell.

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

A. Munnich, N. Boddaert, S. Hanein, 2018, Brain : a journal of neurology.

Biallelic loss of EMC10 leads to mild to severe intellectual disability

H. van Bokhoven, R. Maroofian, H. Houlden, 2022, Annals of clinical and translational neurology.

Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome.

M. Hegde, H. Freeze, Melanie A. Jones, 2012, American journal of human genetics.

SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder

H. Freeze, S. Houliston, H. Bokhoven, 2010, Cell.

A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia

A. Munnich, N. Boddaert, C. Bole-Feysot, 2023, BMC Medical Genomics.

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

A. Munnich, A. Saiardi, N. Boddaert, 2020, Nature Communications.

Faulty initiation of proteoglycan synthesis causes cardiac and joint defects.

D. Seelow, D. Horn, S. Mundlos, 2011, American journal of human genetics.

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

Nancy T. Malintan, J. Rothman, D. Kullmann, 2019, Brain : a journal of neurology.

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

J. van Reeuwijk, L. Hoefsloot, H. van Bokhoven, 2010, Brain : a journal of neurology.

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

S. Gabriel, J. Casanova, E. Dikoglu, 2015, Nature Genetics.

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

Eric N. Anderson, T. Strom, J. Landers, 2021, Nature Communications.

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders

J. Hehir-Kwa, B. D. de Vries, D. Baralle, 2020, American journal of human genetics.

Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative blood phenotype and developmental disorders.

S. Lyonnet, T. Kinoshita, M. Hully, 2021, Blood.

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

J. Bizot, C. Thiel, I. Guerrera, 2018, eLife.

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

D. Lefeber, V. Cantagrel, Vincent Cantagrel, 2011, Journal of Inherited Metabolic Disease.

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

A. Munnich, N. Boddaert, S. Lisgo, 2014, European Journal of Human Genetics.

Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly

A. Munnich, N. Boddaert, N. Bahi-Buisson, 2015, neurogenetics.

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

Bradley P. Coe, B. Coe, J. Schuurs-Hoeijmakers, 2016, American journal of human genetics.

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

A. Munnich, N. Boddaert, C. Bole-Feysot, 2016, Orphanet Journal of Rare Diseases.

Truncation of NHEJ1 in a patient with polymicrogyria

N. Philip, D. Figarella-Branger, S. Lindsay, 2007, Human mutation.