List of works - Michel Koenig

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

scientific article

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

scientific article published on 01 October 2018

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

scientific article published in October 2014

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

scientific article published on 24 January 2006

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

scientific article (publication date: December 2003)

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

scientific article published on 01 July 2008

Dynamic fracture of tantalum under extreme tensile stress

scientific article

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

scientific article

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

article published in 2003

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

scientific article published on June 12, 2011

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

scientific article published on 20 August 2015

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

scientific article published on 28 October 2013

SPG11 spastic paraplegia. A new cause of juvenile parkinsonism

scientific article

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

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

The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia

scientific article published on 13 August 2014

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

scientific article

Transonic dislocation propagation in diamond

scientific article published on 12 October 2023

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

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

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

List of works by Michel Koenig

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

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

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

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

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

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

Dynamic fracture of tantalum under extreme tensile stress

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

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

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

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

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

SPG11 spastic paraplegia. A new cause of juvenile parkinsonism

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

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

The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia

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

Transonic dislocation propagation in diamond

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

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

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