Lista de obras - Fabiana Fattori - Dominio Público Uruguay

A new de novo missense mutation in MYH2 expands clinical and genetic findings in hereditary myosin myopathies

artículo científico publicado en 2013

A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy

artículo científico publicado en 2006

A new mtDNA-tRNA(Glu) mutation (14728T>C) presenting a late-onset mitochondrial encephalomyopathy

artículo científico publicado en 2007

A new phenotypic variant in cleidocranial dysplasia (CCD) associated with mutation c.391C>T of the RUNX2 gene

artículo científico publicado en 2012

A novel gain-of-function mutation in ORAI1 causes late-onset tubular aggregate myopathy and congenital miosis

artículo científico publicado en 2016

A novel mutation in the SACS gene associated with a complicated form of spastic ataxia

artículo científico publicado en 2008

Acute myeloid leukemia in a 3 years old child with cleidocranial dysplasia

article

Blood malignancies presenting with mutations at equivalent residues in RUNX1–2 suggest a common leukemogenic pathway

Brown-Vialetto-van Laere and Fazio-Londe overlap syndromes: a clinical, biochemical and genetic study

artículo científico publicado en 2012

Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.

artículo científico publicado en 2015

Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort

artículo científico publicado en 2013

Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations

scientific article published on 26 February 2014

Clinical and audiological follow up of a family with the 8363G>A mutation in the mitochondrial DNA.

artículo científico publicado en 2009

Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1

scientific journal article

Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture.

artículo científico publicado en 2013

Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients

artículo científico publicado en 2018

Estudio clínico y molecular en una familia con displasia cleidocraneal

scientific article published on 01 December 2017

Expanding the histopathological spectrum of CFL2-related myopathies.

artículo científico publicado en 2018

Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations

artículo científico publicado en 2008

Identification of a new mtDNA mutation (14724G>A) associated with mitochondrial leukoencephalopathy

artículo científico publicado en 2007

Infantile mitochondrial disorders

artículo científico publicado en 2007

Insights from genotype-phenotype correlations by novel SPEG mutations causing centronuclear myopathy

artículo científico publicado en 2017

MRI in sarcoglycanopathies: a large international cohort study.

artículo científico publicado en 2017

Mitochondrial Neurogastrointestinal Encephalomyopathy Presenting as Anorexia Nervosa

artículo científico publicado en 2016

Mitochondrial myopathy in a child with a muscle-restricted mutation in the mitochondrial transfer RNAAsn gene

artículo científico publicado en 2011

Molecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arrays

scientific article published on 27 August 2010

Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1.

artículo científico publicado en 2015

Muscle magnetic resonance imaging and histopathology inACTA1-related congenital nemaline myopathy

article

Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants

artículo científico publicado en 2018

New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients.

artículo científico publicado en 2016

Novel Dominant Mutation in BIN1 Gene Causing Mild Centronuclear Myopathy Revealed by Myalgias and CK Elevation.

artículo científico publicado en 2016

Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers

artículo científico publicado en 2016

POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking

artículo científico publicado en 2015

Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients

artículo científico publicado en 2012

Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1

Somatic mosaicism in TPM2-related myopathy with nemaline rods and cap structures

scientific article published on 27 September 2012

Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders

scientific article published on 22 July 2017

Start codon mutation of GYG1 causing late-onset polyglucosan body myopathy with nemaline rods

artículo científico publicado en 2016

Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series.

artículo científico publicado en 2012

The NDUFB11 gene is not a modifier in Leber hereditary optic neuropathy

artículo científico publicado en 2007

Lista de obras de Fabiana Fattori

A new de novo missense mutation in MYH2 expands clinical and genetic findings in hereditary myosin myopathies

A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy

A new mtDNA-tRNA(Glu) mutation (14728T>C) presenting a late-onset mitochondrial encephalomyopathy

A new phenotypic variant in cleidocranial dysplasia (CCD) associated with mutation c.391C>T of the RUNX2 gene

A novel gain-of-function mutation in ORAI1 causes late-onset tubular aggregate myopathy and congenital miosis

A novel mutation in the SACS gene associated with a complicated form of spastic ataxia

Acute myeloid leukemia in a 3 years old child with cleidocranial dysplasia

Blood malignancies presenting with mutations at equivalent residues in RUNX1–2 suggest a common leukemogenic pathway

Brown-Vialetto-van Laere and Fazio-Londe overlap syndromes: a clinical, biochemical and genetic study

Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.

Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort

Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations

Clinical and audiological follow up of a family with the 8363G>A mutation in the mitochondrial DNA.

Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1

Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture.

Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients

Estudio clínico y molecular en una familia con displasia cleidocraneal

Expanding the histopathological spectrum of CFL2-related myopathies.

Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations

Identification of a new mtDNA mutation (14724G>A) associated with mitochondrial leukoencephalopathy

Infantile mitochondrial disorders

Insights from genotype-phenotype correlations by novel SPEG mutations causing centronuclear myopathy

MRI in sarcoglycanopathies: a large international cohort study.

Mitochondrial Neurogastrointestinal Encephalomyopathy Presenting as Anorexia Nervosa

Mitochondrial myopathy in a child with a muscle-restricted mutation in the mitochondrial transfer RNAAsn gene

Molecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arrays

Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1.

Muscle magnetic resonance imaging and histopathology inACTA1-related congenital nemaline myopathy

Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants

New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients.

Novel Dominant Mutation in BIN1 Gene Causing Mild Centronuclear Myopathy Revealed by Myalgias and CK Elevation.

Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers

POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking

Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients

Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1

Somatic mosaicism in TPM2-related myopathy with nemaline rods and cap structures

Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders

Start codon mutation of GYG1 causing late-onset polyglucosan body myopathy with nemaline rods

Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series.

The NDUFB11 gene is not a modifier in Leber hereditary optic neuropathy