List of works - Andrea Legati

A likely pathogenic variant in the gene presenting with progressive myoclonus

article

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

scientific article published on 27 October 2017

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

scientific article

A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders

scientific article

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

scientific article published on 03 April 2018

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

scientific article published on 22 June 2016

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

scientific article

Brain calcifications and PCDH12 variants

scientific article published on 26 July 2017

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.

scientific article published on 23 August 2016

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

scientific article published on 09 March 2019

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

scientific article

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

scientific article published on 12 March 2018

Familial behavioral variant frontotemporal dementia associated with astrocyte-predominant tauopathy

scientific article

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

scientific article published on 17 October 2014

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

scientific article published on 14 April 2018

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

scientific article published on 04 October 2016

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

scientific article published on 11 July 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.

scientific article published on 4 April 2018

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance

scientific article

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

scientific article

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

scientific article

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

scientific article published on 23 January 2018

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

scientific article published on 27 November 2017

New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies

scientific article published on 8 March 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

scientific article published on 12 May 2017

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

scientific article published on 28 June 2018

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

scientific article published on 9 February 2016

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

scientific article published on 06 April 2015

List of works by 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.