IRIS
FIORILLO, CHIARA
 Distribuzione geografica
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Continente #
EU - Europa 9.637
AS - Asia 1.389
NA - Nord America 652
SA - Sud America 116
AF - Africa 25
OC - Oceania 3
Totale 11.822
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Nazione #
IT - Italia 9.408
US - Stati Uniti d'America 603
SG - Singapore 598
CN - Cina 351
VN - Vietnam 264
FR - Francia 81
BR - Brasile 68
HK - Hong Kong 68
DE - Germania 31
FI - Finlandia 25
GB - Regno Unito 24
MX - Messico 23
AR - Argentina 19
CA - Canada 19
BD - Bangladesh 15
NL - Olanda 15
CH - Svizzera 11
JP - Giappone 11
TR - Turchia 11
EC - Ecuador 10
ID - Indonesia 10
IQ - Iraq 8
BG - Bulgaria 7
ES - Italia 7
IN - India 7
PK - Pakistan 7
PH - Filippine 6
RU - Federazione Russa 6
JO - Giordania 5
UA - Ucraina 5
PL - Polonia 4
TN - Tunisia 4
UY - Uruguay 4
CL - Cile 3
CO - Colombia 3
EG - Egitto 3
MY - Malesia 3
NP - Nepal 3
PE - Perù 3
VE - Venezuela 3
ZA - Sudafrica 3
AL - Albania 2
AU - Australia 2
AZ - Azerbaigian 2
BO - Bolivia 2
IL - Israele 2
IR - Iran 2
KE - Kenya 2
MA - Marocco 2
SA - Arabia Saudita 2
SE - Svezia 2
SN - Senegal 2
TH - Thailandia 2
TW - Taiwan 2
AE - Emirati Arabi Uniti 1
AM - Armenia 1
AO - Angola 1
BE - Belgio 1
BH - Bahrain 1
CG - Congo 1
DO - Repubblica Dominicana 1
DZ - Algeria 1
ET - Etiopia 1
GM - Gambi 1
GR - Grecia 1
GT - Guatemala 1
HN - Honduras 1
HU - Ungheria 1
IE - Irlanda 1
KZ - Kazakistan 1
LB - Libano 1
LC - Santa Lucia 1
LT - Lituania 1
ML - Mali 1
MR - Mauritania 1
NG - Nigeria 1
NI - Nicaragua 1
NZ - Nuova Zelanda 1
OM - Oman 1
PS - Palestinian Territory 1
PT - Portogallo 1
PY - Paraguay 1
QA - Qatar 1
RO - Romania 1
SI - Slovenia 1
SK - Slovacchia (Repubblica Slovacca) 1
SV - El Salvador 1
SY - Repubblica araba siriana 1
SZ - Regno dello Swaziland 1
TT - Trinidad e Tobago 1
UZ - Uzbekistan 1
Totale 11.822
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Città #
Genova 4.320
Genoa 3.264
Rapallo 862
Vado Ligure 853
Singapore 269
San Jose 215
Ashburn 149
Ho Chi Minh City 87
Lauterbourg 69
Hong Kong 64
Hanoi 63
Beijing 52
Council Bluffs 45
Frankfurt am Main 24
Helsinki 22
New York 20
Bordighera 19
Santa Clara 16
Mexico City 15
Haiphong 13
Los Angeles 11
Tianjin 11
Vancouver 10
Orem 9
Tokyo 9
Zurich 9
Da Nang 8
Rome 8
City of London 7
Chicago 6
London 6
Milan 6
Amman 5
Biên Hòa 4
Breda 4
Florence 4
Guangzhou 4
Hải Dương 4
Istanbul 4
Montevideo 4
Montreal 4
Paris 4
Phoenix 4
Quảng Ngãi 4
São Paulo 4
Warsaw 4
Baghdad 3
Buenos Aires 3
Bình Dương 3
Jakarta 3
Kyiv 3
Madrid 3
Quito 3
Resistencia 3
Sofia 3
Thái Nguyên 3
Adana 2
Baku 2
Brasília 2
Bắc Ninh 2
Bến Cầu 2
Cachoeiro de Itapemirim 2
Caracas 2
Cardiff 2
Castelfranco Emilia 2
Ciampino 2
Dakar 2
Dallas 2
Dhaka 2
Guayaquil 2
Hưng Yên 2
Kensington 2
Kuala Lumpur 2
Lahore 2
Lappeenranta 2
León 2
Lugano 2
Manaus 2
Melbourne 2
Mendoza 2
Monteforte Irpino 2
Mosul 2
Nairobi 2
Naples 2
Nice 2
Ninh Bình 2
Nuremberg 2
Phú Nhuận 2
Porto Alegre 2
Prato 2
Rafael Castillo 2
Roccalumera 2
Santiago 2
Toronto 2
Vĩnh Long 2
Ân Thi 2
Acalanes Ridge 1
Adapazarı 1
Addis Ababa 1
Afonso Cláudio 1
Totale 10.712
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Nome #
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders 233
Clinical and molecular consequences of exon 78 deletion in DMD gene 211
Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency. 205
Nusinersen versus sham control in infantile-onset spinal muscular atrophy 199
Mutations in GMPPB Presenting with Pseudometabolic Myopathy 196
The ubiquitin ligase tripartite-motif-protein 32 is induced in Duchenne muscular dystrophy 193
A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathy 193
MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients 189
Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular Dystrophy. 186
Respiratory pattern in a FSHD pediatric population 183
Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course 182
Detection of early nocturnal hypoventilation in neuromuscular disorders 171
Enhancement of Muscle T Regulatory Cells and Improvement of Muscular Dystrophic Process in mdx Mice by Blockade of Extracellular ATP/P2X Axis. 169
Inflammatory myopathy in a patient with collagen VI mutations 167
The danger signal extracellular ATP is involved in the immunomediated damage of α-sarcoglycan deficient muscular dystrophy 164
Italian recommendations for diagnosis and management of congenital myasthenic syndromes 164
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study 163
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. 162
Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 Mutation 160
Characterization of MDPL Fibroblasts Carrying the Recurrent p.Ser605del Mutation in POLD1 Gene. 159
Muscle MRI in neutral lipid storage disease (NLSD) 157
Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene 155
WES in a family trio suggests involvement of TECPR2 in a complex form of progressive motor neuron disease 154
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study 154
Beyond spinal muscular atrophy with lower extremity dominance: Cerebellar hypoplasia associated with a novel mutation in BICD2 152
Mitochondrial myopathy in a child with a muscle-restricted mutation in the mitochondrial transfer RNAAsn gene. 152
Expanding the histopathological spectrum of CFL2-related myopathies 151
Spinal motor neuron involvement in a patient with homozygous PRUNE mutation 148
Elevated serum creatine kinase and small cerebellum prompt diagnosis of congenital muscular dystrophy due to FKRP mutations 148
Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder 144
The genetic basis of undiagnosed muscular dystrophies and myopathies 139
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration 138
Vaccination recommendations for patients with neuromuscular disease. 137
Interpreting Genetic Variants in Titin in Patients With Muscle Disorders 137
Centronuclear myopathies: genotype–phenotype correlation and frequency of defined genetic forms in an Italian cohort 136
Congenital myopathies: Clinical phenotypes and new diagnostic tools 135
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment 134
Early onset cardiomyopathy associated with the mitochondrial tRNALeu(UUR) 3271T>C MELAS mutation 134
Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development. 133
Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers 133
Respiratory pattern in a FSDH paediatric population 131
Severe early-onset developmental and epileptic encephalopathy (DEE) associated with novel compound heterozygous pathogenic variants in SLC25A22: Case report and literature review 130
Optic Atrophy and Generalized Chorea in a Patient Harboring an OPA10/RTN4IP1 Pathogenic Variant 129
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease 128
Copy number variants account for a tiny fraction of undiagnosed myopathic patients 128
Primary muscle involvement in a 15-year-old girl with the recurrent homozygous c.362dupC variant in FKBP14 121
An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia 119
Muscle Expression of Type I and Type II Interferons Is Increased in Juvenile Dermatomyositis and Related to Clinical and Histologic Features 119
Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders 116
Musculoskeletal features without ataxia associated with a novel de novo mutation in KCNA1 impairing the voltage sensitivity of Kv1.1 channel 116
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy 115
Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene. 114
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea 114
Unusual white matter involvement in EAST syndrome associated with novel KCNJ10 mutations 113
A rare mutation in MYH7 gene occurs with overlapping phenotype 109
A CASE OF BIALLELIC SORD MUTATIONS ASSOCIATED WITH DISTAL WEAKNESS AND HISTOLOGICAL SIGNS OF MYOPATHY 108
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders 104
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study 103
Distal motor neuropathy associated with novel EMILIN1 mutation 102
A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers 102
Movement disorders in children with a mitochondrial disease: A cross-sectional survey from the nationwide italian collaborative network of mitochondrial diseases 101
Novel TRIM32 mutation in sarcotubular myopathy 100
Skeletal muscle involvement in biallelic SORD mutations: case report and review of the literature 95
Electrocardiographic Evaluation in Patients With Spinal Muscular Atrophy: A Case-Control Study 95
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study 95
A case of anti-HMGCR myopathy triggered by sodium/glucose co-transporter 2 (SGLT2) inhibitors 95
Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement 87
Statin-Induced Necrotizing Autoimmune Myopathy: Case Report of a Patient under Chronic Treatment 86
Sporadic chronic progressive external ophthalmoplegia with single large mitochondrial DNA deletion and neurogenic findings 86
The Role of Muscle Biopsy in Diagnostic Process of Infant Hypotonia: From Clinical Classification to the Genetic Outcome 86
The diagnostic approach to mitochondrial disorders in children in the era of next-generation sequencing: A 4-year cohort study 83
Friedreich's Ataxia Presenting as Isolated Spastic Paraparesis 78
The Italian LGMD registry: Relative frequency, clinical features, and differential diagnosis 76
Case report: Episodic ataxia without ataxia? 74
Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy 74
‘Amish Nemaline Myopathy’ in 2 Italian siblings harbouring a novel homozygous mutation in Troponin-I gene 72
Muscle inflammatory pattern in alpha- and gamma-sarcoglycanopathies 72
DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia 71
Stem Cell Modeling of Neuroferritinopathy Reveals Iron as a Determinant of Senescence and Ferroptosis during Neuronal Aging 71
Long-term clinical and MRI follow-up in two POMT2-related limb girdle muscular dystrophy (LGMDR14) patients 70
Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings 70
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis 68
Maintenance treatment with subcutaneous immunoglobulins in the long-term management of anti-HMCGR myopathy 66
Association between Reported Sleep Disorders and Behavioral Issues in Children with Myotonic Dystrophy Type 1—Results from a Retrospective Analysis in Italy 65
Dolichol-phosphate mannose synthase depletion in zebrafish leads to dystrophic muscle with hypoglycosylated α-dystroglycan 62
Pediatric SARS-CoV-2-Related Diplopia and Mesencephalic Abnormalities 61
An early onset benign myopathy with glycogen storage caused by a de novo 1.4 Mb-deletion of chromosome 14 61
Neuromuscular and Neuroendocrinological Features Associated With ZC4H2-Related Arthrogryposis Multiplex Congenita in a Sicilian Family: A Case Report 61
Congenital myopathy associated with a novel mutation in MEGF10 gene, myofibrillar alteration and progressive course 59
Parental diagnostic delay and developmental outcomes in congenital and childhood‐onset myotonic dystrophy type 1 57
Automatic Recognition of Ragged Red Fibers in Muscle Biopsy from Patients with Mitochondrial Disorders 56
Recurrent Sensory-Motor Neuropathy Mimicking CIDP as Predominant Presentation of PDH Deficiency 55
Myopathologic trajectory in Duchenne muscular dystrophy (DMD) reveals lack of regeneration due to senescence in satellite cells 55
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation 49
New phenotype caused by POMGNT2 mutations 49
Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review 49
Evaluating treatment and care outcomes for neuromuscular diseases in a pediatric intermediate care setting 48
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores 48
Genotype–phenotype correlations in recessive titinopathies 47
Functional Characterization of a Novel Intronic Variant in PIEZO2 in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (DAIPT) 45
Totale 11.639
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Categoria #
all - tutte 43.625
article - articoli 43.625
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 87.250
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021259 0 0 0 0 0 0 0 0 0 113 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
2025/20263.636 491 118 330 280 591 313 602 220 350 341 0 0
Totale 12.161