List of works - Cyril Goizet

A de novo SPAST mutation leading to somatic mosaicism is associated with a later age at onset in HSP

A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies

scientific article published on 21 April 2017

Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients.

scientific article published on 19 December 2014

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia

scientific article

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia

scientific article

An in-frame deletion in BICD2 associated with a non-progressive form of SMALED.

scientific article published on 17 January 2018

COMT Val158Met Polymorphism Modulates Huntington's Disease Progression

scientific article

CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56.

scientific article published on 16 October 2017

CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.

scientific article published on 12 May 2009

Characterization of XPR1/SLC53A1 variants located outside of the SPX domain in patients with primary familial brain calcification

scientific article published on 01 May 2019

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

scientific article

Clinical and genetic characteristics of late-onset Huntington's disease

scientific article

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

scientific article

Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10.

scientific article published in February 2009

Composite cerebellar functional severity score: validation of a quantitative score of cerebellar impairment

scientific article

DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases

scientific article published on 04 April 2016

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes

scientific article published on 26 February 2018

Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome

scientific article

Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias

scientific article

Mitochondrial morphology and cellular distribution are altered in SPG31 patients and are linked to DRP1 hyperphosphorylation

scientific article published on 22 December 2016

Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration

scientific article published on 13 December 2007

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

scientific article

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay

scientific article published on 20 August 2015

Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5.

scientific article published on 8 December 2017

Primary brain calcification: an international study reporting novel variants and associated phenotypes

scientific article published on 28 June 2018

Quantitative assessment of the evolution of cerebellar signs in spinocerebellar ataxias

scientific article published in February 2011

REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction

scientific article published on 9 September 2011

TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment

scientific article

Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia

scientific article

List of works by Cyril Goizet

A de novo SPAST mutation leading to somatic mosaicism is associated with a later age at onset in HSP

A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies

Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients.

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia

An in-frame deletion in BICD2 associated with a non-progressive form of SMALED.

COMT Val158Met Polymorphism Modulates Huntington's Disease Progression

CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56.

CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.

Characterization of XPR1/SLC53A1 variants located outside of the SPX domain in patients with primary familial brain calcification

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

Clinical and genetic characteristics of late-onset Huntington's disease

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10.

Composite cerebellar functional severity score: validation of a quantitative score of cerebellar impairment

DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes

Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome

Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias

Mitochondrial morphology and cellular distribution are altered in SPG31 patients and are linked to DRP1 hyperphosphorylation

Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay

Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5.

Primary brain calcification: an international study reporting novel variants and associated phenotypes

Quantitative assessment of the evolution of cerebellar signs in spinocerebellar ataxias

REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction

TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment

Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia