List of works - Mariella Simon

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

scientific article

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

scientific article

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

scientific article published on 28 October 2020

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

scientific article

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

scientific article published on 4 October 2012

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

scientific article published on August 27, 2012

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

scientific article

Mitochondrial and ion channel gene alterations in autism.

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 26 February 2015

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

scientific article published on February 11, 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 ⬇️

scientific article published on November 1, 1995

List of works by Mariella 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 ⬇️