List of works - Isabelle Nelson

A form of muscular dystrophy associated with pathogenic variants in JAG2

scientific article published on 15 April 2021

A founder effect and mutational hot spots may contribute to the most frequent mutations in the SPG3A gene

article

A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy

scientific journal article

A mitochondrial DNA tRNA(Val) point mutation associated with adult-onset Leigh syndrome

scientific article published in August 1997

A new mitochondrial DNA mutation associated with progressive dementia and chorea: A clinical, pathological, and molecular genetic study

scientific article published on 01 March 1995

A new phenotype linked to SPG27 and refinement of the critical region on chromosome

scientific article published on 6 March 2006

A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy

scientific article

A novel locus for autosomal dominant “uncomplicated” hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3

An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy

scientific article

Anti-HMGCR Antibody–Related Necrotizing Autoimmune Myopathy Mimicking Muscular Dystrophy

scientific article published on 04 August 2017

Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution

scientific article published on 22 December 2014

Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC.

scientific article published on 12 September 2016

Classical mitochondrial phenotypes without mtDNA mutations: The possible role of nuclear genes

article

Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency

scientific article published on 18 December 2017

Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA.

scientific article

Deletions of mitochondrial DNA in Kearns-Sayre syndrome and ocular myopathies: Genetic, biochemical and morphological studies

scientific article published on 01 February 1991

Depletion of mitochondrial DNA by ddC in untransformed human cell lines.

scientific article published on July 1997

Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing

scientific article published on 29 October 2014

Different copy numbers of apparently identically deleted mitochondrial DNA in tissues from a patient with Kearns-Sayre syndrome detected by PCR.

scientific article

Distinctive serum miRNA profile in mouse models of striated muscular pathologies

scientific article

EGR2 mutation enhances phenotype spectrum of Dejerine-Sottas syndrome.

scientific article published on 9 May 2016

Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?

scientific article

FHL1B Interacts with Lamin A/C and Emerin at the Nuclear Lamina and is Misregulated in Emery-Dreifuss Muscular Dystrophy

scientific article published in November 2016

Higher Maternal Than Paternal Inheritance of Diabetes in GK Rats

scientific article published on 01 February 1994

Immunocytological and histochemical correlation in Kearns-Sayre syndrome with mtDNA deletion and partial cytochrome c oxidase deficiency in skeletal muscle

scientific article published on 01 November 1989

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea

scientific journal article

Impaired mitochondrial translation in human myoblasts harbouring the mitochondrial DNA tRNA lysine 8344 A → G (MERRF) mutation: relationship to proportion of mutant mitochondrial DNA

scientific article published on 01 June 1995

Kearns-Sayre syndrome with sideroblastic anemia: molecular investigations

scientific article published on August 1, 1992

Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related Diseases

scientific article published on September 2015

Limb girdle muscular dystrophy due to mutations in POMT2.

scientific article published on 24 November 2017

Mitochondrial DNA in postmortem brain from patients with Parkinson's disease

scientific article published in May 1991

Mutation detection in Leber's hereditary optic neuropathy by PCR with allele-specific priming

scientific article published on 01 March 1991

Myofibrillar myopathies: State of the art, present and future challenges

scientific article published on 02 September 2015

New phenotypic diversity associated with the mitochondrial tRNA(SerUCN) gene mutation.

scientific article published in May 2005

Phenotypic diversity associated with the MT-TV gene m.1644G>A mutation, a matter of quantity

article

SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years

article

Sequence analysis of a deleted mitochondrial DNA molecule in heteroplasmic mice

scientific article published on 01 November 1993

Severe epilepsy as the major symptom of new mutations in the mitochondrial tRNA(Phe) gene

scientific article published in February 2010

Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease.

scientific article

The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS

article

List of works by Isabelle Nelson

A form of muscular dystrophy associated with pathogenic variants in JAG2

A founder effect and mutational hot spots may contribute to the most frequent mutations in the SPG3A gene

A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy

A mitochondrial DNA tRNA(Val) point mutation associated with adult-onset Leigh syndrome

A new mitochondrial DNA mutation associated with progressive dementia and chorea: A clinical, pathological, and molecular genetic study

A new phenotype linked to SPG27 and refinement of the critical region on chromosome

A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy

A novel locus for autosomal dominant “uncomplicated” hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3

An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy

Anti-HMGCR Antibody–Related Necrotizing Autoimmune Myopathy Mimicking Muscular Dystrophy

Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution

Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC.

Classical mitochondrial phenotypes without mtDNA mutations: The possible role of nuclear genes

Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency

Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA.

Deletions of mitochondrial DNA in Kearns-Sayre syndrome and ocular myopathies: Genetic, biochemical and morphological studies

Depletion of mitochondrial DNA by ddC in untransformed human cell lines.

Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing

Different copy numbers of apparently identically deleted mitochondrial DNA in tissues from a patient with Kearns-Sayre syndrome detected by PCR.

Distinctive serum miRNA profile in mouse models of striated muscular pathologies

EGR2 mutation enhances phenotype spectrum of Dejerine-Sottas syndrome.

Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?

FHL1B Interacts with Lamin A/C and Emerin at the Nuclear Lamina and is Misregulated in Emery-Dreifuss Muscular Dystrophy

Higher Maternal Than Paternal Inheritance of Diabetes in GK Rats

Immunocytological and histochemical correlation in Kearns-Sayre syndrome with mtDNA deletion and partial cytochrome c oxidase deficiency in skeletal muscle

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea

Impaired mitochondrial translation in human myoblasts harbouring the mitochondrial DNA tRNA lysine 8344 A → G (MERRF) mutation: relationship to proportion of mutant mitochondrial DNA

Kearns-Sayre syndrome with sideroblastic anemia: molecular investigations

Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related Diseases

Limb girdle muscular dystrophy due to mutations in POMT2.

Mitochondrial DNA in postmortem brain from patients with Parkinson's disease

Mutation detection in Leber's hereditary optic neuropathy by PCR with allele-specific priming

Myofibrillar myopathies: State of the art, present and future challenges

New phenotypic diversity associated with the mitochondrial tRNA(SerUCN) gene mutation.

Phenotypic diversity associated with the MT-TV gene m.1644G>A mutation, a matter of quantity

SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years

Sequence analysis of a deleted mitochondrial DNA molecule in heteroplasmic mice

Severe epilepsy as the major symptom of new mutations in the mitochondrial tRNA(Phe) gene

Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease.

The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS