List of works - Chiara Fiorillo

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

scientific article published on 01 April 2016

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

scientific article published on 01 December 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.

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

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.

scientific article published on 19 March 2018

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

scientific article

Congenital myopathies: clinical phenotypes and new diagnostic tools

scientific article published on 15 November 2017

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

scientific article published on 26 October 2018

Detection of early nocturnal hypoventilation in neuromuscular disorders

scientific article

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

scientific article published on 9 June 2016

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

scientific article

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

scientific article published in January 2018

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

scientific article published on 11 October 2015

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

scientific article published on 12 June 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.

scientific article published on 9 April 2015

Expanding the histopathological spectrum of CFL2-related myopathies.

scientific article published on 19 February 2018

Friedreich's Ataxia Presenting as Isolated Spastic Paraparesis

scientific article published on 01 September 2014

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

scientific article published on 31 August 2017

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

scientific article published on 31 August 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

scientific article published on 18 January 2017

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

scientific article published on 12 February 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.

scientific article published on 07 July 2016

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

scientific article published on 30 April 2019

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

scientific article published on 24 February 2015

Mutations in GMPPB Presenting with Pseudometabolic Myopathy.

scientific article published on 30 April 2017

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

scientific article published on 13 April 2013

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

scientific article

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

scientific article

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

scientific article published on 17 February 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.

scientific article published on 9 January 2013

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

scientific article published in October 2013

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

scientific article published on 18 December 2018

Respiratory pattern in a FSDH paediatric population

scientific article published on 29 March 2017

Respiratory pattern in a FSHD pediatric population.

scientific article published on 22 August 2016

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

scientific article published on 27 June 2019

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

scientific article published on 18 April 2016

Spinal motor neuron involvement in a patient with homozygous PRUNE mutation

scientific article published on 18 December 2017

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

scientific article published on 07 February 2017

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

scientific article published on 09 November 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

scientific article published on 08 June 2016

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

scientific article published on 13 June 2016

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

scientific article published on 17 April 2018

Vaccination recommendations for patients with neuromuscular disease.

scientific article published on 16 September 2014

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

scientific article published on 10 February 2016

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

scientific article published on March 2017

List of works by 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.