List of works - Fabiana Fattori

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

scientific article published on 13 March 2013

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

scientific article published on 8 February 2006

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

scientific article published on 19 August 2007

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

scientific article

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

scientific article published on 13 October 2016

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

scientific article published on 11 July 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

scientific article published on 21 July 2012

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

scientific article published on 10 May 2015

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

scientific article published on 8 February 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.

scientific article

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.

scientific article published on March 2013

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

scientific article published on 26 October 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.

scientific article published on 19 February 2018

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

scientific article published on January 2008

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

scientific article published on 23 January 2007

Infantile mitochondrial disorders

scientific article

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

scientific article published on 24 May 2017

MRI in sarcoglycanopathies: a large international cohort study.

scientific article published on 9 September 2017

Mitochondrial Neurogastrointestinal Encephalomyopathy Presenting as Anorexia Nervosa

scientific article published on 12 October 2016

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

scientific article published on 29 June 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.

scientific article published on 17 July 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

scientific article

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

scientific article

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

scientific article published on March 2016

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

scientific article published on 17 February 2016

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

scientific article

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

scientific article published on 8 May 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

scientific article

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

scientific article published on 21 July 2012

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

scientific article published on 2 February 2007

List of works by 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.