Lista de obras - Andrew A Morris - Dominio Público Uruguay

A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome

artículo científico publicado en 2004

A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype

artículo científico publicado en 2016

A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency

artículo científico publicado en 2014

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

artículo científico publicado en 2018

Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene

artículo científico publicado en 2013

Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy

article

LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.

artículo científico publicado en 2015

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

article

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

artículo científico publicado en 2018

Maternally inherited mitochondrial DNA disease in consanguineous families

artículo científico publicado en 2011

Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation

scientific article published on 22 January 2002

Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits

artículo científico publicado en 2017

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies

artículo científico publicado en 2016

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies

article

SURF1 deficiency: a multi-centre natural history study.

artículo científico publicado en 2013

The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease.

artículo científico publicado en 2016

The genotypic and phenotypic spectrum of MTO1 deficiency.

artículo científico publicado en 2017

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies

artículo científico publicado en 2014

Lista de obras de Andrew A Morris

A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome

A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype

A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene

Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy

LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.

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

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

Maternally inherited mitochondrial DNA disease in consanguineous families

Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation

Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies

SURF1 deficiency: a multi-centre natural history study.

The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease.

The genotypic and phenotypic spectrum of MTO1 deficiency.

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies