IRIS
FIORILLO, CHIARA
 Distribuzione geografica
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Continente #
EU - Europa 5.996
Totale 5.996
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Nazione #
IT - Italia 5.996
Totale 5.996
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Città #
Genova 4.320
Rapallo 862
Genoa 795
Bordighera 19
Totale 5.996
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Nome #
Respiratory pattern in a FSHD pediatric population 142
Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency. 141
MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients 132
Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular Dystrophy. 125
Mitochondrial myopathy in a child with a muscle-restricted mutation in the mitochondrial transfer RNAAsn gene. 125
Clinical and molecular consequences of exon 78 deletion in DMD gene 123
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study 122
The ubiquitin ligase tripartite-motif-protein 32 is induced in Duchenne muscular dystrophy 120
Mutations in GMPPB Presenting with Pseudometabolic Myopathy 120
WES in a family trio suggests involvement of TECPR2 in a complex form of progressive motor neuron disease 119
Nusinersen versus sham control in infantile-onset spinal muscular atrophy 119
Inflammatory myopathy in a patient with collagen VI mutations 117
Italian recommendations for diagnosis and management of congenital myasthenic syndromes 117
Enhancement of Muscle T Regulatory Cells and Improvement of Muscular Dystrophic Process in mdx Mice by Blockade of Extracellular ATP/P2X Axis. 115
Characterization of MDPL Fibroblasts Carrying the Recurrent p.Ser605del Mutation in POLD1 Gene. 114
null 112
Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 Mutation 111
Spinal motor neuron involvement in a patient with homozygous PRUNE mutation 111
Detection of early nocturnal hypoventilation in neuromuscular disorders 111
Elevated serum creatine kinase and small cerebellum prompt diagnosis of congenital muscular dystrophy due to FKRP mutations 110
A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathy 110
Vaccination recommendations for patients with neuromuscular disease. 108
Interpreting Genetic Variants in Titin in Patients With Muscle Disorders 108
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders 108
Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene 101
Congenital myopathies: Clinical phenotypes and new diagnostic tools 101
The danger signal extracellular ATP is involved in the immunomediated damage of α-sarcoglycan deficient muscular dystrophy 100
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease 100
Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course 99
Copy number variants account for a tiny fraction of undiagnosed myopathic patients 98
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. 98
Respiratory pattern in a FSDH paediatric population 96
Primary muscle involvement in a 15-year-old girl with the recurrent homozygous c.362dupC variant in FKBP14 94
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea 94
Expanding the histopathological spectrum of CFL2-related myopathies 94
Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder 94
The genetic basis of undiagnosed muscular dystrophies and myopathies 93
Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene. 89
Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development. 88
Beyond spinal muscular atrophy with lower extremity dominance: Cerebellar hypoplasia associated with a novel mutation in BICD2 88
Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers 86
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration 79
Severe early-onset developmental and epileptic encephalopathy (DEE) associated with novel compound heterozygous pathogenic variants in SLC25A22: Case report and literature review 79
Muscle Expression of Type I and Type II Interferons Is Increased in Juvenile Dermatomyositis and Related to Clinical and Histologic Features 78
Centronuclear myopathies: genotype–phenotype correlation and frequency of defined genetic forms in an Italian cohort 75
Unusual white matter involvement in EAST syndrome associated with novel KCNJ10 mutations 75
Electrocardiographic Evaluation in Patients With Spinal Muscular Atrophy: A Case-Control Study 74
Optic Atrophy and Generalized Chorea in a Patient Harboring an OPA10/RTN4IP1 Pathogenic Variant 73
Friedreich's Ataxia Presenting as Isolated Spastic Paraparesis 64
Early onset cardiomyopathy associated with the mitochondrial tRNALeu(UUR) 3271T>C MELAS mutation 60
The Italian LGMD registry: Relative frequency, clinical features, and differential diagnosis 54
Novel TRIM32 mutation in sarcotubular myopathy 52
‘Amish Nemaline Myopathy’ in 2 Italian siblings harbouring a novel homozygous mutation in Troponin-I gene 50
Muscle MRI in neutral lipid storage disease (NLSD) 50
A rare mutation in MYH7 gene occurs with overlapping phenotype 48
Musculoskeletal features without ataxia associated with a novel de novo mutation in KCNA1 impairing the voltage sensitivity of Kv1.1 channel 47
Stem Cell Modeling of Neuroferritinopathy Reveals Iron as a Determinant of Senescence and Ferroptosis during Neuronal Aging 43
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study 42
Distal motor neuropathy associated with novel EMILIN1 mutation 40
Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy 36
Sporadic chronic progressive external ophthalmoplegia with single large mitochondrial DNA deletion and neurogenic findings 36
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy 36
null 35
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment 34
Dolichol-phosphate mannose synthase depletion in zebrafish leads to dystrophic muscle with hypoglycosylated α-dystroglycan 34
The Role of Muscle Biopsy in Diagnostic Process of Infant Hypotonia: From Clinical Classification to the Genetic Outcome 34
Movement disorders in children with a mitochondrial disease: A cross-sectional survey from the nationwide italian collaborative network of mitochondrial diseases 32
Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings 31
Maintenance treatment with subcutaneous immunoglobulins in the long-term management of anti-HMCGR myopathy 30
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis 30
Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review 29
The diagnostic approach to mitochondrial disorders in children in the era of next-generation sequencing: A 4-year cohort study 28
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study 28
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders 27
An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia 27
Muscle inflammatory pattern in alpha- and gamma-sarcoglycanopathies 26
A CASE OF BIALLELIC SORD MUTATIONS ASSOCIATED WITH DISTAL WEAKNESS AND HISTOLOGICAL SIGNS OF MYOPATHY 22
Genotype–phenotype correlations in recessive titinopathies 19
A case of anti-HMGCR myopathy triggered by sodium/glucose co-transporter 2 (SGLT2) inhibitors 19
New phenotype caused by POMGNT2 mutations 17
Long-term clinical and MRI follow-up in two POMT2-related limb girdle muscular dystrophy (LGMDR14) patients 13
A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers 13
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores 12
Statin-Induced Necrotizing Autoimmune Myopathy: Case Report of a Patient under Chronic Treatment 11
Skeletal muscle involvement in biallelic SORD mutations: case report and review of the literature 11
Pediatric SARS-CoV-2-Related Diplopia and Mesencephalic Abnormalities 9
Congenital myopathy associated with a novel mutation in MEGF10 gene, myofibrillar alteration and progressive course 9
Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement 9
Recurrent Sensory-Motor Neuropathy Mimicking CIDP as Predominant Presentation of PDH Deficiency 9
Case report: Episodic ataxia without ataxia? 6
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation 6
Automatic Recognition of Ragged Red Fibers in Muscle Biopsy from Patients with Mitochondrial Disorders 5
Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant 5
An early onset benign myopathy with glycogen storage caused by a de novo 1.4 Mb-deletion of chromosome 14 4
DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia 3
Myopathologic trajectory in Duchenne muscular dystrophy (DMD) reveals lack of regeneration due to senescence in satellite cells 3
Neuromuscular disorders in zebrafish: State of the art and future perspectives 2
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study 2
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype–Genotype Correlations: The Example of RYR1-Related Myopathies 2
Neuromuscular and Neuroendocrinological Features Associated With ZC4H2-Related Arthrogryposis Multiplex Congenita in a Sicilian Family: A Case Report 2
Totale 6.282
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Categoria #
all - tutte 23.168
article - articoli 23.168
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 46.336
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/2019188 0 0 0 0 0 0 0 0 0 0 0 188
2019/20201.882 107 64 41 125 152 201 305 225 209 248 155 50
2020/2021929 49 51 53 193 42 59 46 132 45 113 80 66
2021/2022902 45 18 44 76 33 78 70 211 69 84 43 131
2022/20231.016 89 110 12 103 128 154 0 87 186 7 131 9
2023/2024702 35 65 21 90 50 131 64 35 31 24 59 97
Totale 6.285