List of works - Alison Compton

A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome

scientific article published on 23 January 2014

A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein‐truncating variant

article

ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

scientific article

Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases

scientific article published on 20 April 2021

Application of oligonucleotide array CGH in the detection of a large intragenic deletion in POLG associated with Alpers Syndrome

scientific article published on 12 August 2010

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome

scientific article published on August 2017

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.

scientific article

Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype

scientific article published on 29 June 2016

Changes in skeletal muscle expression of AQP1 and AQP4 in dystrophinopathy and dysferlinopathy patients

scientific article

Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants

scientific article published on 19 November 2019

Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child

scientific article published on 11 December 2018

Diagnosis and etiology of congenital muscular dystrophy

scientific article published on 26 December 2007

Expression of aquaporin 1 in human cardiac and skeletal muscle.

scientific article

Fatal perinatal mitochondrial cardiac failure caused by recurrent <i>de novo</i> duplications in the <i>ATAD3</i> locus

scientific article published on 09 July 2020

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

scientific article

Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder

scientific article published on 11 December 2014

Leigh syndrome caused by mutations in is associated with a better prognosis

article

Leigh syndrome: One disorder, more than 75 monogenic causes

scientific article published on 27 October 2015

Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis

scientific article published on 25 September 2007

Mitochondrial energy generation disorders: genes, mechanisms and clues to pathology.

scientific article

Molecular diagnosis of mitochondrial respiratory chain disorders in Japan: focusing on mitochondrial DNA depletion syndrome

scientific article published on 06 March 2014

Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome

scientific article

Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes

scientific article published on 28 June 2013

Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation

scientific article

Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression

scientific article

Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1

scientific article

Next-generation sequencing in molecular diagnosis:NUBPLmutations highlight the challenges of variant detection and interpretation

scientific article published on 22 December 2011

Phenotypic variation ofTTC19-deficient mitochondrial complex III deficiency: A case report and literature review

article

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations

scientific article

The molecular basis of human complex I deficiency.

scientific article published on 15 July 2011

Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5

scientific journal article

List of works by Alison Compton

A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome

A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein‐truncating variant

ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases

Application of oligonucleotide array CGH in the detection of a large intragenic deletion in POLG associated with Alpers Syndrome

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.

Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype

Changes in skeletal muscle expression of AQP1 and AQP4 in dystrophinopathy and dysferlinopathy patients

Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants

Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child

Diagnosis and etiology of congenital muscular dystrophy

Expression of aquaporin 1 in human cardiac and skeletal muscle.

Fatal perinatal mitochondrial cardiac failure caused by recurrent <i>de novo</i> duplications in the <i>ATAD3</i> locus

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder

Leigh syndrome caused by mutations in is associated with a better prognosis

Leigh syndrome: One disorder, more than 75 monogenic causes

Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis

Mitochondrial energy generation disorders: genes, mechanisms and clues to pathology.

Molecular diagnosis of mitochondrial respiratory chain disorders in Japan: focusing on mitochondrial DNA depletion syndrome

Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome

Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes

Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation

Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression

Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1

Next-generation sequencing in molecular diagnosis:NUBPLmutations highlight the challenges of variant detection and interpretation

Phenotypic variation ofTTC19-deficient mitochondrial complex III deficiency: A case report and literature review

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations

The molecular basis of human complex I deficiency.

Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5