IRIS
FIORILLO, CHIARA
 Distribuzione geografica
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Continente #
EU - Europa 9.344
AS - Asia 577
SA - Sud America 83
NA - Nord America 72
AF - Africa 4
Totale 10.080
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Nazione #
IT - Italia 9.326
SG - Singapore 257
CN - Cina 144
VN - Vietnam 128
US - Stati Uniti d'America 54
BR - Brasile 46
HK - Hong Kong 24
MX - Messico 15
AR - Argentina 14
EC - Ecuador 10
ID - Indonesia 7
NL - Olanda 5
BD - Bangladesh 3
PE - Perù 3
RU - Federazione Russa 3
AZ - Azerbaigian 2
BG - Bulgaria 2
BO - Bolivia 2
CL - Cile 2
CO - Colombia 2
DE - Germania 2
IQ - Iraq 2
JO - Giordania 2
PL - Polonia 2
UY - Uruguay 2
CA - Canada 1
DO - Repubblica Dominicana 1
EG - Egitto 1
ES - Italia 1
FR - Francia 1
GB - Regno Unito 1
IL - Israele 1
IN - India 1
IR - Iran 1
LB - Libano 1
LC - Santa Lucia 1
MA - Marocco 1
ML - Mali 1
PK - Pakistan 1
PY - Paraguay 1
QA - Qatar 1
SK - Slovacchia (Repubblica Slovacca) 1
SN - Senegal 1
SY - Repubblica araba siriana 1
TR - Turchia 1
VE - Venezuela 1
Totale 10.080
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Città #
Genova 4.320
Genoa 3.258
Rapallo 862
Vado Ligure 853
Singapore 72
Ho Chi Minh City 44
Beijing 42
Ashburn 41
Hanoi 36
Hong Kong 24
Bordighera 19
Mexico City 13
Tianjin 10
Haiphong 9
Breda 4
Biên Hòa 3
Buenos Aires 3
Bình Dương 3
Hải Dương 3
Quito 3
Quảng Ngãi 3
Rome 3
Amman 2
Baku 2
Bến Cầu 2
Ciampino 2
Da Nang 2
Frankfurt am Main 2
Guayaquil 2
Jakarta 2
Los Angeles 2
Manaus 2
Milan 2
Montevideo 2
Porto Alegre 2
Rafael Castillo 2
Resistencia 2
San Jose 2
Thái Nguyên 2
Warsaw 2
Afonso Cláudio 1
Alanya 1
Alessandria 1
Altamira 1
Aracaju 1
Arapongas 1
Asunción 1
Baghdad 1
Bamako 1
Barro 1
Beirut 1
Bengaluru 1
Bento Gonçalves 1
Betânia do Piauí 1
Brasília 1
Bratislava 1
Bắc Ninh 1
Cachoeiro de Itapemirim 1
Cairo 1
Campo Belo 1
Can Tho 1
Cartagena 1
Castanhal 1
Castries 1
Castro 1
Cedro 1
Chicago 1
Chongqing 1
City of London 1
Contagem 1
Cubatão 1
Cuenca 1
Curitiba 1
Dakar 1
Dallas 1
Damascus 1
Denver 1
Dhaka 1
Doha 1
Duque de Caxias 1
Guangzhou 1
Guarulhos 1
Ibagué 1
Itapetinga 1
Jequié 1
Jiaxing 1
La Paz 1
Laferrere 1
Lima 1
Lomas de Zamora 1
Machala 1
Makhachkala 1
Mariano Moreno 1
Maricá 1
Mendoza 1
Miraflores District 1
Monte Grande 1
Morón 1
Mountain View 1
Mérida 1
Totale 9.724
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Nome #
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders 199
Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency. 193
Mutations in GMPPB Presenting with Pseudometabolic Myopathy 183
Clinical and molecular consequences of exon 78 deletion in DMD gene 180
The ubiquitin ligase tripartite-motif-protein 32 is induced in Duchenne muscular dystrophy 175
Respiratory pattern in a FSHD pediatric population 173
Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular Dystrophy. 172
A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathy 172
Nusinersen versus sham control in infantile-onset spinal muscular atrophy 171
MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients 170
Inflammatory myopathy in a patient with collagen VI mutations 157
Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course 155
Enhancement of Muscle T Regulatory Cells and Improvement of Muscular Dystrophic Process in mdx Mice by Blockade of Extracellular ATP/P2X Axis. 152
Detection of early nocturnal hypoventilation in neuromuscular disorders 149
Characterization of MDPL Fibroblasts Carrying the Recurrent p.Ser605del Mutation in POLD1 Gene. 148
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study 146
Italian recommendations for diagnosis and management of congenital myasthenic syndromes 146
Muscle MRI in neutral lipid storage disease (NLSD) 146
WES in a family trio suggests involvement of TECPR2 in a complex form of progressive motor neuron disease 144
Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 Mutation 144
Mitochondrial myopathy in a child with a muscle-restricted mutation in the mitochondrial transfer RNAAsn gene. 144
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study 143
Spinal motor neuron involvement in a patient with homozygous PRUNE mutation 139
Beyond spinal muscular atrophy with lower extremity dominance: Cerebellar hypoplasia associated with a novel mutation in BICD2 137
The danger signal extracellular ATP is involved in the immunomediated damage of α-sarcoglycan deficient muscular dystrophy 137
Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene 137
Elevated serum creatine kinase and small cerebellum prompt diagnosis of congenital muscular dystrophy due to FKRP mutations 134
Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder 134
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. 133
Expanding the histopathological spectrum of CFL2-related myopathies 131
Interpreting Genetic Variants in Titin in Patients With Muscle Disorders 129
Vaccination recommendations for patients with neuromuscular disease. 126
Centronuclear myopathies: genotype–phenotype correlation and frequency of defined genetic forms in an Italian cohort 125
Respiratory pattern in a FSDH paediatric population 123
The genetic basis of undiagnosed muscular dystrophies and myopathies 123
Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development. 122
Congenital myopathies: Clinical phenotypes and new diagnostic tools 122
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease 121
Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers 117
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration 117
Severe early-onset developmental and epileptic encephalopathy (DEE) associated with novel compound heterozygous pathogenic variants in SLC25A22: Case report and literature review 116
Copy number variants account for a tiny fraction of undiagnosed myopathic patients 116
Optic Atrophy and Generalized Chorea in a Patient Harboring an OPA10/RTN4IP1 Pathogenic Variant 116
Primary muscle involvement in a 15-year-old girl with the recurrent homozygous c.362dupC variant in FKBP14 113
Muscle Expression of Type I and Type II Interferons Is Increased in Juvenile Dermatomyositis and Related to Clinical and Histologic Features 107
Early onset cardiomyopathy associated with the mitochondrial tRNALeu(UUR) 3271T>C MELAS mutation 106
Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene. 104
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea 103
An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia 101
Musculoskeletal features without ataxia associated with a novel de novo mutation in KCNA1 impairing the voltage sensitivity of Kv1.1 channel 100
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment 99
Unusual white matter involvement in EAST syndrome associated with novel KCNJ10 mutations 99
A rare mutation in MYH7 gene occurs with overlapping phenotype 95
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy 91
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders 88
Distal motor neuropathy associated with novel EMILIN1 mutation 88
Electrocardiographic Evaluation in Patients With Spinal Muscular Atrophy: A Case-Control Study 86
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study 86
A CASE OF BIALLELIC SORD MUTATIONS ASSOCIATED WITH DISTAL WEAKNESS AND HISTOLOGICAL SIGNS OF MYOPATHY 85
Novel TRIM32 mutation in sarcotubular myopathy 84
Movement disorders in children with a mitochondrial disease: A cross-sectional survey from the nationwide italian collaborative network of mitochondrial diseases 84
A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers 84
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study 82
Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders 76
A case of anti-HMGCR myopathy triggered by sodium/glucose co-transporter 2 (SGLT2) inhibitors 76
Skeletal muscle involvement in biallelic SORD mutations: case report and review of the literature 75
Sporadic chronic progressive external ophthalmoplegia with single large mitochondrial DNA deletion and neurogenic findings 75
The Role of Muscle Biopsy in Diagnostic Process of Infant Hypotonia: From Clinical Classification to the Genetic Outcome 72
Friedreich's Ataxia Presenting as Isolated Spastic Paraparesis 71
Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement 70
The diagnostic approach to mitochondrial disorders in children in the era of next-generation sequencing: A 4-year cohort study 70
The Italian LGMD registry: Relative frequency, clinical features, and differential diagnosis 68
‘Amish Nemaline Myopathy’ in 2 Italian siblings harbouring a novel homozygous mutation in Troponin-I gene 65
Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy 61
Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings 61
Statin-Induced Necrotizing Autoimmune Myopathy: Case Report of a Patient under Chronic Treatment 60
Stem Cell Modeling of Neuroferritinopathy Reveals Iron as a Determinant of Senescence and Ferroptosis during Neuronal Aging 60
Maintenance treatment with subcutaneous immunoglobulins in the long-term management of anti-HMCGR myopathy 60
Muscle inflammatory pattern in alpha- and gamma-sarcoglycanopathies 60
Case report: Episodic ataxia without ataxia? 59
Long-term clinical and MRI follow-up in two POMT2-related limb girdle muscular dystrophy (LGMDR14) patients 58
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis 56
DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia 53
Pediatric SARS-CoV-2-Related Diplopia and Mesencephalic Abnormalities 50
An early onset benign myopathy with glycogen storage caused by a de novo 1.4 Mb-deletion of chromosome 14 49
Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review 48
Association between Reported Sleep Disorders and Behavioral Issues in Children with Myotonic Dystrophy Type 1—Results from a Retrospective Analysis in Italy 47
Congenital myopathy associated with a novel mutation in MEGF10 gene, myofibrillar alteration and progressive course 46
Dolichol-phosphate mannose synthase depletion in zebrafish leads to dystrophic muscle with hypoglycosylated α-dystroglycan 46
Neuromuscular and Neuroendocrinological Features Associated With ZC4H2-Related Arthrogryposis Multiplex Congenita in a Sicilian Family: A Case Report 46
Automatic Recognition of Ragged Red Fibers in Muscle Biopsy from Patients with Mitochondrial Disorders 44
Recurrent Sensory-Motor Neuropathy Mimicking CIDP as Predominant Presentation of PDH Deficiency 44
New phenotype caused by POMGNT2 mutations 42
Myopathologic trajectory in Duchenne muscular dystrophy (DMD) reveals lack of regeneration due to senescence in satellite cells 39
Genotype–phenotype correlations in recessive titinopathies 39
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores 38
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation 37
Parental diagnostic delay and developmental outcomes in congenital and childhood‐onset myotonic dystrophy type 1 36
null 35
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype–Genotype Correlations: The Example of RYR1-Related Myopathies 32
Totale 10.126
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Categoria #
all - tutte 40.821
article - articoli 40.821
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 81.642
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021541 0 0 0 0 0 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
2023/2024703 35 65 21 90 50 131 64 35 31 24 59 98
2024/20252.239 63 153 60 155 269 227 219 373 129 110 230 251
2025/20261.889 491 118 330 280 591 79 0 0 0 0 0 0
Totale 10.414