Lista de obras - M Simon - Dominio Público Uruguay

Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia.

artículo científico publicado en 2013

An Indian boy with nephropathic cystinosis: a case report and molecular analysis of CTNS mutation.

artículo científico publicado en 2009

ECHS1 disease in two unrelated families of Samoan descent: Common variant - rare disorder

artículo científico publicado en 2020

Facioscapulohumeral muscular dystrophy (FSHD) myoblasts demonstrate increased susceptibility to oxidative stress.

artículo científico publicado en 2003

Genotype-phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia

artículo científico publicado en 2012

Heteroplasmic mutations of the mitochondrial genome cause paradoxical effects on mitochondrial functions ⬇️

artículo científico publicado el 27 de agosto de 2012

Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans.

artículo científico publicado en 2012

Mitochondrial and ion channel gene alterations in autism.

artículo científico publicado en 2012

Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome

artículo científico publicado en 2014

Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss

artículo científico publicado en 2011

Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion.

artículo científico publicado en 2016

Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome

artículo científico publicado en 2015

Psychological Impact of Predictive Genetic Testing in VCP Inclusion Body Myopathy, Paget Disease of Bone and Frontotemporal Dementia

artículo científico publicado en 2015

Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup ⬇️

artículo científico publicado el 11 de febrero de 2013

The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency

scientific article published on 29 August 2019

Topology of the pore-region of a K+ channel revealed by the NMR-derived structures of scorpion toxins ⬇️

artículo científico publicado el 1 de noviembre de 1995

Lista de obras de M Simon

Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia.

An Indian boy with nephropathic cystinosis: a case report and molecular analysis of CTNS mutation.

ECHS1 disease in two unrelated families of Samoan descent: Common variant - rare disorder

Facioscapulohumeral muscular dystrophy (FSHD) myoblasts demonstrate increased susceptibility to oxidative stress.

Genotype-phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia

Heteroplasmic mutations of the mitochondrial genome cause paradoxical effects on mitochondrial functions ⬇️

Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans.

Mitochondrial and ion channel gene alterations in autism.

Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome

Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss

Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion.

Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome

Psychological Impact of Predictive Genetic Testing in VCP Inclusion Body Myopathy, Paget Disease of Bone and Frontotemporal Dementia

Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup ⬇️

The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency

Topology of the pore-region of a K+ channel revealed by the NMR-derived structures of scorpion toxins ⬇️