Lista de obras - Chiara Fiorillo - Dominio Público Uruguay

A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathy

scientific article published on 17 January 2019

A rare mutation in MYH7 gene occurs with overlapping phenotype

article

Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency

Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene

article

Beyond spinal muscular atrophy with lower extremity dominance: cerebellar hypoplasia associated with a novel mutation inBICD2

artículo científico publicado en 2016

Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course

artículo científico publicado en 2019

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study

article

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

Characterization of MDPL Fibroblasts Carrying the Recurrent p.Ser605del Mutation in POLD1 Gene

article

Clinical and molecular consequences of exon 78 deletion in DMD gene

artículo científico publicado en 2018

Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry

artículo científico publicado en 2016

Congenital myopathies: clinical phenotypes and new diagnostic tools

artículo científico publicado en 2017

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

artículo científico publicado en 2018

Detection of early nocturnal hypoventilation in neuromuscular disorders

artículo científico publicado en 2017

Dolichol-phosphate mannose synthase depletion in zebrafish leads to dystrophic muscle with hypoglycosylated α-dystroglycan.

artículo científico publicado en 2016

Early onset cardiomyopathy associated with the mitochondrial tRNALeu((UUR)) 3271T>C MELAS mutation

artículo científico publicado en 2015

Electrocardiographic Evaluation in Patients With Spinal Muscular Atrophy: A Case-Control Study.

artículo científico publicado en 2018

Enhancement of Muscle T Regulatory Cells and Improvement of Muscular Dystrophic Process in mdx Mice by Blockade of Extracellular ATP/P2X Axis.

artículo científico publicado en 2015

Erratum to: Muscle MRI in neutral lipid storage disease (NLSD).

artículo científico publicado en 2017

Executive functions are impaired in heterozygote patients with oculopharyngeal muscular dystrophy

scientific article published on 29 September 2011

Expanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate (LTBL) in a Patient Harboring a Novel EARS2 Mutation.

artículo científico publicado en 2015

Expanding the histopathological spectrum of CFL2-related myopathies.

artículo científico publicado en 2018

Friedreich's Ataxia Presenting as Isolated Spastic Paraparesis

artículo científico publicado en 2014

Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder.

artículo científico publicado en 2017

Genotype-phenotype correlations in a large series of patients with muscle type CPT II deficiency

artículo científico publicado en 2010

Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy

scientific article published on 19 June 2019

Inflammatory myopathy in a patient with collagen VI mutations

artículo científico publicado en 2017

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

artículo científico publicado en 2018

Italian recommendations for diagnosis and management of congenital myasthenic syndromes

scientific article published on 15 December 2018

Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration

scientific article published on 12 November 2018

MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.

artículo científico publicado en 2016

Muscle Expression of Type I and Type II Interferons Is Increased in Juvenile Dermatomyositis and Related to Clinical and Histologic Features

artículo científico publicado en 2019

Muscle fiber type disproportion (FTD) in a family with mutations in the LMNA gene

artículo científico publicado en 2015

Mutations in GMPPB Presenting with Pseudometabolic Myopathy.

artículo científico publicado en 2017

Neuromuscular disorders in zebrafish: state of the art and future perspectives.

artículo científico

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

artículo científico publicado en 2016

Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development

artículo científico publicado en 2014

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

artículo científico publicado en 2016

Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings

scientific article published on 02 July 2019

Novel mutations in TSEN54 in pontocerebellar hypoplasia type 2.

artículo científico publicado en 2013

Novel mutations in the fukutin gene in a boy with asymptomatic hyperCKemia.

artículo científico publicado en 2013

Primary muscle involvement in a 15-year-old girl with the recurrent homozygous c.362dupC variant in FKBP14

artículo científico publicado en 2018

Respiratory pattern in a FSDH paediatric population

artículo científico publicado en 2017

Respiratory pattern in a FSHD pediatric population.

artículo científico publicado en 2016

Severe early-onset developmental and epileptic encephalopathy (DEE) associated with novel compound heterozygous pathogenic variants in SLC25A22: Case report and literature review

artículo científico publicado en 2019

Spinal lipoma as a dysembryogenetic anomaly: Four unusual cases of ectopic iliac rib within the spinal lipoma.

artículo científico publicado en 2016

Spinal motor neuron involvement in a patient with homozygous PRUNE mutation

artículo científico publicado en 2017

Sporadic chronic progressive external ophthalmoplegia with single large mitochondrial DNA deletion and neurogenic findings

artículo científico publicado en 2017

Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene

artículo científico publicado en 2012

Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease

article

The Danger Signal Extracellular ATP Is Involved in the Immunomediated Damage of α-Sarcoglycan-Deficient Muscular Dystrophy

scientific article published on 16 November 2018

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients

artículo científico publicado en 2016

The ubiquitin ligase tripartite-motif-protein 32 is induced in Duchenne muscular dystrophy.

artículo científico publicado en 2016

Unusual white matter involvement in EAST syndrome associated with novel KCNJ10 mutations.

artículo científico publicado en 2018

Vaccination recommendations for patients with neuromuscular disease.

artículo científico publicado en 2014

WES in a family trio suggests involvement of TECPR2 in a complex form of progressive motor neuron disease.

artículo científico publicado en 2016

Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 Mutation.

artículo científico publicado en 2017

Lista de obras de Chiara Fiorillo

A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathy

A rare mutation in MYH7 gene occurs with overlapping phenotype

Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency

Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene

Beyond spinal muscular atrophy with lower extremity dominance: cerebellar hypoplasia associated with a novel mutation inBICD2

Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional 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

Characterization of MDPL Fibroblasts Carrying the Recurrent p.Ser605del Mutation in POLD1 Gene

Clinical and molecular consequences of exon 78 deletion in DMD gene

Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry

Congenital myopathies: clinical phenotypes and new diagnostic tools

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

Detection of early nocturnal hypoventilation in neuromuscular disorders

Dolichol-phosphate mannose synthase depletion in zebrafish leads to dystrophic muscle with hypoglycosylated α-dystroglycan.

Early onset cardiomyopathy associated with the mitochondrial tRNALeu((UUR)) 3271T>C MELAS mutation

Electrocardiographic Evaluation in Patients With Spinal Muscular Atrophy: A Case-Control Study.

Enhancement of Muscle T Regulatory Cells and Improvement of Muscular Dystrophic Process in mdx Mice by Blockade of Extracellular ATP/P2X Axis.

Erratum to: Muscle MRI in neutral lipid storage disease (NLSD).

Executive functions are impaired in heterozygote patients with oculopharyngeal muscular dystrophy

Expanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate (LTBL) in a Patient Harboring a Novel EARS2 Mutation.

Expanding the histopathological spectrum of CFL2-related myopathies.

Friedreich's Ataxia Presenting as Isolated Spastic Paraparesis

Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder.

Genotype-phenotype correlations in a large series of patients with muscle type CPT II deficiency

Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy

Inflammatory myopathy in a patient with collagen VI mutations

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

Italian recommendations for diagnosis and management of congenital myasthenic syndromes

Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration

MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.

Muscle Expression of Type I and Type II Interferons Is Increased in Juvenile Dermatomyositis and Related to Clinical and Histologic Features

Muscle fiber type disproportion (FTD) in a family with mutations in the LMNA gene

Mutations in GMPPB Presenting with Pseudometabolic Myopathy.

Neuromuscular disorders in zebrafish: state of the art and future perspectives.

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

Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development

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

Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings

Novel mutations in TSEN54 in pontocerebellar hypoplasia type 2.

Novel mutations in the fukutin gene in a boy with asymptomatic hyperCKemia.

Primary muscle involvement in a 15-year-old girl with the recurrent homozygous c.362dupC variant in FKBP14

Respiratory pattern in a FSDH paediatric population

Respiratory pattern in a FSHD pediatric population.

Severe early-onset developmental and epileptic encephalopathy (DEE) associated with novel compound heterozygous pathogenic variants in SLC25A22: Case report and literature review

Spinal lipoma as a dysembryogenetic anomaly: Four unusual cases of ectopic iliac rib within the spinal lipoma.

Spinal motor neuron involvement in a patient with homozygous PRUNE mutation

Sporadic chronic progressive external ophthalmoplegia with single large mitochondrial DNA deletion and neurogenic findings

Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene

Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease

The Danger Signal Extracellular ATP Is Involved in the Immunomediated Damage of α-Sarcoglycan-Deficient Muscular Dystrophy

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients

The ubiquitin ligase tripartite-motif-protein 32 is induced in Duchenne muscular dystrophy.

Unusual white matter involvement in EAST syndrome associated with novel KCNJ10 mutations.

Vaccination recommendations for patients with neuromuscular disease.

WES in a family trio suggests involvement of TECPR2 in a complex form of progressive motor neuron disease.

Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 Mutation.