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A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies

scientific journal article

A novel homozygous variant in MICOS13/QIL1 causes hepato-encephalopathy with mitochondrial DNA depletion syndrome

artículo científico publicado en 2020

A novel mutation of ALK2, L196P, found in the most benign case of fibrodysplasia ossificans progressiva activates BMP-specific intracellular signaling equivalent to a typical mutation, R206H ⬇️

artículo científico publicado el 4 de marzo de 2011

ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome

artículo científico publicado en 2017

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

artículo científico publicado en 2017

Analysis of the assembly profiles for mitochondrial- and nuclear-DNA-encoded subunits into complex I

artículo científico publicado en 2007

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies

artículo científico publicado en 2017

Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy

artículo científico publicado en 2016

Biochemical and molecular diagnosis of mitochondrial respiratory chain disorders.

artículo científico publicado en 2004

COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency

artículo científico publicado en 2015

Case of an infant with hepatic cirrhosis caused by mitochondrial respiratory chain disorder ⬇️

artículo científico publicado el 1 de agosto de 2013

Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients

artículo científico publicado en 2017

Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenita

artículo científico publicado en 2015

De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency

artículo científico publicado en 2004

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

artículo científico publicado en 2015

Diagnosis and molecular basis of mitochondrial respiratory chain disorders: exome sequencing for disease gene identification

artículo científico

Fatal case of mitochondrial DNA depletion with severe asphyxia in a newborn ⬇️

artículo científico publicado el 1 de abril de 2011

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

artículo científico publicado en 2020

HDR-del: A tool based on Hamming distance for prioritizing pathogenic chromosomal deletions in exome sequencing

artículo científico publicado en 2017

Identification of Cryptic Novel α-Galactosidase A Gene Mutations: Abnormal mRNA Splicing and Large Deletions

artículo científico publicado en 2016

Liver-specific mitochondrial respiratory chain complex I deficiency in fatal influenza encephalopathy ⬇️

artículo científico publicado el 26 de marzo de 2011

Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease.

artículo científico publicado en 2003

MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load

artículo científico publicado en 2018

Mitochondrial respiratory chain complex IV deficiency complicated with chronic intestinal pseudo-obstruction in a neonate

artículo científico publicado en 2016

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy

artículo científico publicado en 2014

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

artículo científico publicado en 2018

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

artículo científico publicado en 2018

Neonatal lactic acidosis with methylmalonic aciduria due to novel mutations in the SUCLG1 gene ⬇️

artículo científico publicado el 1 de diciembre de 2011

Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity

artículo científico publicado en 2017

Novel biallelic mutations in the PNPT1 gene encoding a mitochondrial-RNA-import protein PNPase cause delayed myelination

artículo científico publicado en 2017

Preoperative urinary tract obstruction in scoliosis patients

artículo científico publicado en 2016

Rapidly progressive infantile cardiomyopathy with mitochondrial respiratory chain complex V deficiency due to loss of ATPase 6 and 8 protein

artículo científico publicado en 2016

Reply to the letter: "The diagnostic value of MRI in pediatric chronic inflammatory demyelinating polyradiculoneuropathy".

artículo científico publicado en 2015

The ratio of glycated albumin to hemoglobin A1c measured in IFCC units accurately represents the glycation gap.

artículo científico publicado en 2014

Two Japanese patients with Leigh syndrome caused by novel SURF1 mutations ⬇️

artículo científico publicado el 10 de marzo de 2012

Two neonatal cholestasis patients with mutations in the SRD5B1 (AKR1D1) gene: diagnosis and bile acid profiles during chenodeoxycholic acid treatment ⬇️

artículo científico publicado el 16 de noviembre de 2012

Visualization of Mitochondria with Green Fluorescent Protein in Cultured Fibroblasts from Patients with Mitochondrial Diseases ⬇️

artículo científico publicado el 20 de octubre de 1997

Lista de obras de

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies

A novel homozygous variant in MICOS13/QIL1 causes hepato-encephalopathy with mitochondrial DNA depletion syndrome

A novel mutation of ALK2, L196P, found in the most benign case of fibrodysplasia ossificans progressiva activates BMP-specific intracellular signaling equivalent to a typical mutation, R206H ⬇️

ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome

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

Analysis of the assembly profiles for mitochondrial- and nuclear-DNA-encoded subunits into complex I

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies

Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy

Biochemical and molecular diagnosis of mitochondrial respiratory chain disorders.

COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency

Case of an infant with hepatic cirrhosis caused by mitochondrial respiratory chain disorder ⬇️

Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients

Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenita

De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

Diagnosis and molecular basis of mitochondrial respiratory chain disorders: exome sequencing for disease gene identification

Fatal case of mitochondrial DNA depletion with severe asphyxia in a newborn ⬇️

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

HDR-del: A tool based on Hamming distance for prioritizing pathogenic chromosomal deletions in exome sequencing

Identification of Cryptic Novel α-Galactosidase A Gene Mutations: Abnormal mRNA Splicing and Large Deletions

Liver-specific mitochondrial respiratory chain complex I deficiency in fatal influenza encephalopathy ⬇️

Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease.

MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load

Mitochondrial respiratory chain complex IV deficiency complicated with chronic intestinal pseudo-obstruction in a neonate

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

Neonatal lactic acidosis with methylmalonic aciduria due to novel mutations in the SUCLG1 gene ⬇️

Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity

Novel biallelic mutations in the PNPT1 gene encoding a mitochondrial-RNA-import protein PNPase cause delayed myelination

Preoperative urinary tract obstruction in scoliosis patients

Rapidly progressive infantile cardiomyopathy with mitochondrial respiratory chain complex V deficiency due to loss of ATPase 6 and 8 protein

Reply to the letter: "The diagnostic value of MRI in pediatric chronic inflammatory demyelinating polyradiculoneuropathy".

The ratio of glycated albumin to hemoglobin A1c measured in IFCC units accurately represents the glycation gap.

Two Japanese patients with Leigh syndrome caused by novel SURF1 mutations ⬇️

Two neonatal cholestasis patients with mutations in the SRD5B1 (AKR1D1) gene: diagnosis and bile acid profiles during chenodeoxycholic acid treatment ⬇️

Visualization of Mitochondria with Green Fluorescent Protein in Cultured Fibroblasts from Patients with Mitochondrial Diseases ⬇️