Lista de obras - Andrea Legati - Dominio Público Uruguay

A likely pathogenic variant in the gene presenting with progressive myoclonus

article

A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy

artículo científico publicado en 2017

A novel mutation P112H in the TARDBP gene associated with frontotemporal lobar degeneration without motor neuron disease and abundant neuritic amyloid plaques

artículo científico publicado en 2015

A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders

artículo científico publicado en 2015

Benign hereditary chorea and deletions outside NKX2-1: What's the role of MBIP?

artículo científico publicado en 2018

Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy

artículo científico publicado en 2016

Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers.

artículo científico publicado en 2015

Brain calcifications and PCDH12 variants

artículo científico

CPEO and Mitochondrial Myopathy in a Patient with Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions

scientific article published on 06 March 2019

Clinical and Biochemical Features in a Patient With Gene Alteration

article

Clinical findings in a patient with FARS2 mutations and early-infantile-encephalopathy with epilepsy.

artículo científico publicado en 2016

Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy

artículo científico publicado en 2019

Compound heterozygosity for a hemizygous rare missense variant (rs141999351) and a large CNV deletion affecting the FSTL5 gene in a patient with schizophrenia

artículo científico publicado en 2016

Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis.

artículo científico publicado en 2018

Familial behavioral variant frontotemporal dementia associated with astrocyte-predominant tauopathy

artículo científico publicado en 2015

First Japanese family with primary familial brain calcification due to a mutation in the PDGFB gene: an exome analysis study.

artículo científico publicado en 2014

GARFIELD-NGS: Genomic vARiants FIltering by dEep Learning moDels in NGS.

artículo científico publicado en 2018

Genetic Prion Disease Caused by PRNP Q160X Mutation Presenting with an Orbitofrontal Syndrome, Cyclic Diarrhea, and Peripheral Neuropathy

artículo científico publicado en 2016

Homozygous mutations in C1QBP as cause of Progressive External Ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions

artículo científico publicado en 2020

Homozygous variant in OTX2 and possible genetic modifiers identified in a patient with combined pituitary hormone deficiency, ocular involvement, myopathy, ataxia, and mitochondrial impairment

scientific article published on 17 February 2019

KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature.

artículo científico publicado en 2018

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance

artículo científico publicado en 2016

Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of Literature.

artículo científico publicado en 2015

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

artículo científico publicado en 2015

Neonatal mitochondrial leukoencephalopathy with brain and spinal involvement and high lactate: expanding the phenotype of ISCA2 gene mutations.

artículo científico publicado en 2018

Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults

artículo científico publicado en 2017

New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies

artículo científico publicado en 2016

New missense variants of NDUFA11 associated with late onset myopathy

scientific article published on 30 May 2019

Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations

artículo científico publicado en 2017

Primary brain calcification: an international study reporting novel variants and associated phenotypes

artículo científico publicado en 2018

Primary familial brain calcification in a Norwegian family, caused by a novel SLC20A2 gene mutation

artículo científico publicado en 2016

Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification.

artículo científico

Lista de obras de Andrea Legati

A likely pathogenic variant in the gene presenting with progressive myoclonus

A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy

A novel mutation P112H in the TARDBP gene associated with frontotemporal lobar degeneration without motor neuron disease and abundant neuritic amyloid plaques

A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders

Benign hereditary chorea and deletions outside NKX2-1: What's the role of MBIP?

Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy

Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers.

Brain calcifications and PCDH12 variants

CPEO and Mitochondrial Myopathy in a Patient with Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions

Clinical and Biochemical Features in a Patient With Gene Alteration

Clinical findings in a patient with FARS2 mutations and early-infantile-encephalopathy with epilepsy.

Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy

Compound heterozygosity for a hemizygous rare missense variant (rs141999351) and a large CNV deletion affecting the FSTL5 gene in a patient with schizophrenia

Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis.

Familial behavioral variant frontotemporal dementia associated with astrocyte-predominant tauopathy

First Japanese family with primary familial brain calcification due to a mutation in the PDGFB gene: an exome analysis study.

GARFIELD-NGS: Genomic vARiants FIltering by dEep Learning moDels in NGS.

Genetic Prion Disease Caused by PRNP Q160X Mutation Presenting with an Orbitofrontal Syndrome, Cyclic Diarrhea, and Peripheral Neuropathy

Homozygous mutations in C1QBP as cause of Progressive External Ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions

Homozygous variant in OTX2 and possible genetic modifiers identified in a patient with combined pituitary hormone deficiency, ocular involvement, myopathy, ataxia, and mitochondrial impairment

KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature.

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance

Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of Literature.

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

Neonatal mitochondrial leukoencephalopathy with brain and spinal involvement and high lactate: expanding the phenotype of ISCA2 gene mutations.

Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults

New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies

New missense variants of NDUFA11 associated with late onset myopathy

Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations

Primary brain calcification: an international study reporting novel variants and associated phenotypes

Primary familial brain calcification in a Norwegian family, caused by a novel SLC20A2 gene mutation

Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification.