about
POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein traffickingClinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1Infantile mitochondrial disorders.A new phenotypic variant in cleidocranial dysplasia (CCD) associated with mutation c.391C>T of the RUNX2 gene.Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1.Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohortComparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture.A new de novo missense mutation in MYH2 expands clinical and genetic findings in hereditary myosin myopathies.Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers.Novel Dominant Mutation in BIN1 Gene Causing Mild Centronuclear Myopathy Revealed by Myalgias and CK Elevation.Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations.A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy.Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients.Mitochondrial myopathy in a child with a muscle-restricted mutation in the mitochondrial transfer RNAAsn gene.Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series.A new mtDNA-tRNA(Glu) mutation (14728T>C) presenting a late-onset mitochondrial encephalomyopathy.MRI in sarcoglycanopathies: a large international cohort study.A novel gain-of-function mutation in ORAI1 causes late-onset tubular aggregate myopathy and congenital miosis.Start codon mutation of GYG1 causing late-onset polyglucosan body myopathy with nemaline rods.Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants.Brown-Vialetto-van Laere and Fazio-Londe overlap syndromes: a clinical, biochemical and genetic study.Mitochondrial Neurogastrointestinal Encephalomyopathy Presenting as Anorexia Nervosa.Clinical and audiological follow up of a family with the 8363G>A mutation in the mitochondrial DNA.A novel mutation in the SACS gene associated with a complicated form of spastic ataxia.Expanding the histopathological spectrum of CFL2-related myopathies.Identification of a new mtDNA mutation (14724G>A) associated with mitochondrial leukoencephalopathy.New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients.Insights from genotype-phenotype correlations by novel SPEG mutations causing centronuclear myopathy.The NDUFB11 gene is not a modifier in Leber hereditary optic neuropathy.Blood malignancies presenting with mutations at equivalent residues in RUNX1–2 suggest a common leukemogenic pathwayEstudio clínico y molecular en una familia con displasia cleidocranealSomatic mosaicism represents an underestimated event underlying collagen 6-related disordersAcute myeloid leukemia in a 3 years old child with cleidocranial dysplasiaChildhood onset tubular aggregate myopathy associated with de novo STIM1 mutationsMuscle magnetic resonance imaging and histopathology inACTA1-related congenital nemaline myopathySomatic mosaicism in TPM2-related myopathy with nemaline rods and cap structuresProgressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic PatientsMolecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arrays
P50
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P50
description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Fabiana Fattori
@ast
Fabiana Fattori
@en
Fabiana Fattori
@es
Fabiana Fattori
@nl
Fabiana Fattori
@sl
type
label
Fabiana Fattori
@ast
Fabiana Fattori
@en
Fabiana Fattori
@es
Fabiana Fattori
@nl
Fabiana Fattori
@sl
prefLabel
Fabiana Fattori
@ast
Fabiana Fattori
@en
Fabiana Fattori
@es
Fabiana Fattori
@nl
Fabiana Fattori
@sl
P1053
K-1033-2016
P106
P1153
55237178500
P21
P31
P3829
P496
0000-0002-1820-8489