List of works - Michel Koenig

Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.

scientific article

ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency

scientific article

Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies

scientific article (publication date: December 2003)

Frataxin deficiency in pancreatic islets causes diabetes due to loss of beta cell mass

scientific article

Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients

scientific article published on 15 January 2010

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

scientific article

Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype

scientific article published on June 12, 2011

The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation

scientific article

SPG11 spastic paraplegia. A new cause of juvenile parkinsonism

scientific article

Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3.

scientific article published on 24 January 2006

The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia

scientific article published on 13 August 2014

Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression

scientific article published on 28 October 2013

Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation study

scientific article published in October 2014

Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2H.

scientific article published on 19 March 2009

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

scientific article published on 20 August 2015

Clinical and Molecular Findings of Ataxia With Oculomotor Apraxia Type 2 in 4 Families

scientific article published on 01 July 2008

Frataxin deficiency in pancreatic islets causes diabetes due to loss of β cell mass

article published in 2003

Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases

scientific article published on 3 May 2016

Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders

scientific article published on 01 October 2018

Dynamic fracture of tantalum under extreme tensile stress

scientific article

Transonic dislocation propagation in diamond

scientific article published on 12 October 2023

List of works by Michel Koenig

Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.

ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency

Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies

Frataxin deficiency in pancreatic islets causes diabetes due to loss of beta cell mass

Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients

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

Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype

The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation

SPG11 spastic paraplegia. A new cause of juvenile parkinsonism

Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3.

The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia

Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression

Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation study

Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2H.

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

Clinical and Molecular Findings of Ataxia With Oculomotor Apraxia Type 2 in 4 Families

Frataxin deficiency in pancreatic islets causes diabetes due to loss of β cell mass

Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases

Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders

Dynamic fracture of tantalum under extreme tensile stress

Transonic dislocation propagation in diamond