List of works - Isabelle Desguerre

A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy

scientific article published on 8 July 2015

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

scientific article

CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures

scientific article

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

scientific article

Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome

scientific article published in July 2008

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

scientific article

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

scientific article

MRI findings in 77 children with non-syndromic autistic disorder

scientific article

Mosaicism in ATP1A3-related disorders: not just a theoretical risk

scientific article published on 10 October 2016

Mutation in a primate-conserved retrotransposon reveals a noncoding RNA as a mediator of infantile encephalopathy

scientific article published on 12 March 2012

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

scientific article

Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy

scientific article published on 28 October 2014

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

scientific article

Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4

article

Respiratory chain deficiency in a female with Aicardi-Goutières syndrome

scientific article published in March 2006

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

List of works by Isabelle Desguerre

A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy

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

CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

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

MRI findings in 77 children with non-syndromic autistic disorder

Mosaicism in ATP1A3-related disorders: not just a theoretical risk

Mutation in a primate-conserved retrotransposon reveals a noncoding RNA as a mediator of infantile encephalopathy

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4

Respiratory chain deficiency in a female with Aicardi-Goutières syndrome

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