IRIS
FIORILLO, CHIARA
 Distribuzione geografica
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Continente #
EU - Europa 9.733
AS - Asia 1.562
NA - Nord America 1.051
SA - Sud America 116
AF - Africa 26
OC - Oceania 5
Totale 12.493
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Nazione #
IT - Italia 9.499
US - Stati Uniti d'America 975
SG - Singapore 608
CN - Cina 384
VN - Vietnam 264
BD - Bangladesh 144
FR - Francia 81
BR - Brasile 68
HK - Hong Kong 68
CA - Canada 33
DE - Germania 31
FI - Finlandia 25
GB - Regno Unito 24
MX - Messico 23
AR - Argentina 19
NL - Olanda 19
JP - Giappone 12
CH - Svizzera 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
JM - Giamaica 6
PH - Filippine 6
RU - Federazione Russa 6
JO - Giordania 5
TN - Tunisia 5
UA - Ucraina 5
AU - Australia 4
CR - Costa Rica 4
PL - Polonia 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
AZ - Azerbaigian 2
BO - Bolivia 2
HN - Honduras 2
IL - Israele 2
IR - Iran 2
KE - Kenya 2
LT - Lituania 2
MA - Marocco 2
SA - Arabia Saudita 2
SE - Svezia 2
SN - Senegal 2
SV - El Salvador 2
TH - Thailandia 2
TT - Trinidad e Tobago 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
HU - Ungheria 1
IE - Irlanda 1
KZ - Kazakistan 1
LB - Libano 1
LC - Santa Lucia 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
SY - Repubblica araba siriana 1
SZ - Regno dello Swaziland 1
UZ - Uzbekistan 1
Totale 12.493
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Città #
Genova 4.320
Genoa 3.276
Rapallo 862
Vado Ligure 853
San Jose 307
Singapore 279
Ashburn 189
Ho Chi Minh City 87
Beijing 77
Lauterbourg 69
Hong Kong 64
Hanoi 63
Council Bluffs 48
New York 29
Santa Clara 26
Frankfurt am Main 24
Los Angeles 23
Helsinki 22
Bordighera 19
Rome 16
Mexico City 15
Haiphong 13
Chicago 11
Milan 11
Tianjin 11
Boardman 10
Orem 10
Tokyo 10
Vancouver 10
Montreal 9
Zurich 9
Da Nang 8
City of London 7
London 6
Amman 5
Buffalo 5
Charlotte 5
Toronto 5
Biên Hòa 4
Breda 4
Florence 4
Guangzhou 4
Houston 4
Hải Dương 4
Istanbul 4
Montevideo 4
Naples 4
Paris 4
Phoenix 4
Quảng Ngãi 4
San Francisco 4
San José 4
São Paulo 4
Verona 4
Warsaw 4
Arlington 3
Atlanta 3
Baghdad 3
Battipaglia 3
Buenos Aires 3
Bình Dương 3
Dallas 3
Detroit 3
Jakarta 3
Kyiv 3
Lucca 3
Madrid 3
Memphis 3
Piscataway 3
Quito 3
Resistencia 3
Sofia 3
Thái Nguyên 3
Adana 2
Altoona 2
Baku 2
Bari 2
Bologna 2
Brasília 2
Brooklyn 2
Bắc Ninh 2
Bến Cầu 2
Cachoeiro de Itapemirim 2
Caracas 2
Cardiff 2
Castelfranco Emilia 2
Catania 2
Ciampino 2
Conway 2
Dakar 2
Dhaka 2
Guayaquil 2
Hưng Yên 2
Indianapolis 2
Kansas City 2
Kensington 2
Kingston 2
Kuala Lumpur 2
Lahore 2
Lappeenranta 2
Totale 10.989
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Nome #
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders 239
Clinical and molecular consequences of exon 78 deletion in DMD gene 217
Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency. 207
Nusinersen versus sham control in infantile-onset spinal muscular atrophy 206
MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients 200
Mutations in GMPPB Presenting with Pseudometabolic Myopathy 200
The ubiquitin ligase tripartite-motif-protein 32 is induced in Duchenne muscular dystrophy 196
Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular Dystrophy. 195
A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathy 193
Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course 189
Respiratory pattern in a FSHD pediatric population 186
Muscle MRI in neutral lipid storage disease (NLSD) 181
Detection of early nocturnal hypoventilation in neuromuscular disorders 176
Enhancement of Muscle T Regulatory Cells and Improvement of Muscular Dystrophic Process in mdx Mice by Blockade of Extracellular ATP/P2X Axis. 173
Inflammatory myopathy in a patient with collagen VI mutations 168
The danger signal extracellular ATP is involved in the immunomediated damage of α-sarcoglycan deficient muscular dystrophy 168
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study 167
Italian recommendations for diagnosis and management of congenital myasthenic syndromes 166
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. 165
Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 Mutation 164
Characterization of MDPL Fibroblasts Carrying the Recurrent p.Ser605del Mutation in POLD1 Gene. 162
Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene 159
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment 158
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study 156
Expanding the histopathological spectrum of CFL2-related myopathies 156
WES in a family trio suggests involvement of TECPR2 in a complex form of progressive motor neuron disease 155
Beyond spinal muscular atrophy with lower extremity dominance: Cerebellar hypoplasia associated with a novel mutation in BICD2 155
The genetic basis of undiagnosed muscular dystrophies and myopathies 152
Mitochondrial myopathy in a child with a muscle-restricted mutation in the mitochondrial transfer RNAAsn gene. 152
Congenital myopathies: Clinical phenotypes and new diagnostic tools 151
Spinal motor neuron involvement in a patient with homozygous PRUNE mutation 150
Elevated serum creatine kinase and small cerebellum prompt diagnosis of congenital muscular dystrophy due to FKRP mutations 149
Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder 149
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration 142
Centronuclear myopathies: genotype–phenotype correlation and frequency of defined genetic forms in an Italian cohort 142
Vaccination recommendations for patients with neuromuscular disease. 140
Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers 138
Interpreting Genetic Variants in Titin in Patients With Muscle Disorders 138
Early onset cardiomyopathy associated with the mitochondrial tRNALeu(UUR) 3271T>C MELAS mutation 136
Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development. 135
Respiratory pattern in a FSDH paediatric population 135
Musculoskeletal features without ataxia associated with a novel de novo mutation in KCNA1 impairing the voltage sensitivity of Kv1.1 channel 134
Optic Atrophy and Generalized Chorea in a Patient Harboring an OPA10/RTN4IP1 Pathogenic Variant 133
Severe early-onset developmental and epileptic encephalopathy (DEE) associated with novel compound heterozygous pathogenic variants in SLC25A22: Case report and literature review 132
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease 131
Copy number variants account for a tiny fraction of undiagnosed myopathic patients 129
Muscle Expression of Type I and Type II Interferons Is Increased in Juvenile Dermatomyositis and Related to Clinical and Histologic Features 124
An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia 123
Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders 122
Primary muscle involvement in a 15-year-old girl with the recurrent homozygous c.362dupC variant in FKBP14 122
Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene. 117
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea 116
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders 115
A rare mutation in MYH7 gene occurs with overlapping phenotype 115
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy 115
A CASE OF BIALLELIC SORD MUTATIONS ASSOCIATED WITH DISTAL WEAKNESS AND HISTOLOGICAL SIGNS OF MYOPATHY 114
Unusual white matter involvement in EAST syndrome associated with novel KCNJ10 mutations 114
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study 110
A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers 107
Movement disorders in children with a mitochondrial disease: A cross-sectional survey from the nationwide italian collaborative network of mitochondrial diseases 106
Novel TRIM32 mutation in sarcotubular myopathy 105
Distal motor neuropathy associated with novel EMILIN1 mutation 104
Skeletal muscle involvement in biallelic SORD mutations: case report and review of the literature 99
Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement 98
Electrocardiographic Evaluation in Patients With Spinal Muscular Atrophy: A Case-Control Study 98
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study 98
A case of anti-HMGCR myopathy triggered by sodium/glucose co-transporter 2 (SGLT2) inhibitors 98
Statin-Induced Necrotizing Autoimmune Myopathy: Case Report of a Patient under Chronic Treatment 95
The Role of Muscle Biopsy in Diagnostic Process of Infant Hypotonia: From Clinical Classification to the Genetic Outcome 90
Sporadic chronic progressive external ophthalmoplegia with single large mitochondrial DNA deletion and neurogenic findings 88
The diagnostic approach to mitochondrial disorders in children in the era of next-generation sequencing: A 4-year cohort study 87
DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia 86
Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy 81
Case report: Episodic ataxia without ataxia? 79
Long-term clinical and MRI follow-up in two POMT2-related limb girdle muscular dystrophy (LGMDR14) patients 79
Friedreich's Ataxia Presenting as Isolated Spastic Paraparesis 79
The Italian LGMD registry: Relative frequency, clinical features, and differential diagnosis 77
‘Amish Nemaline Myopathy’ in 2 Italian siblings harbouring a novel homozygous mutation in Troponin-I gene 75
Muscle inflammatory pattern in alpha- and gamma-sarcoglycanopathies 74
Evaluating treatment and care outcomes for neuromuscular diseases in a pediatric intermediate care setting 73
Stem Cell Modeling of Neuroferritinopathy Reveals Iron as a Determinant of Senescence and Ferroptosis during Neuronal Aging 73
Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings 73
Congenital myopathy associated with a novel mutation in MEGF10 gene, myofibrillar alteration and progressive course 71
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis 71
Parental diagnostic delay and developmental outcomes in congenital and childhood‐onset myotonic dystrophy type 1 69
An early onset benign myopathy with glycogen storage caused by a de novo 1.4 Mb-deletion of chromosome 14 69
Maintenance treatment with subcutaneous immunoglobulins in the long-term management of anti-HMCGR myopathy 69
Neuromuscular and Neuroendocrinological Features Associated With ZC4H2-Related Arthrogryposis Multiplex Congenita in a Sicilian Family: A Case Report 68
Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: Experience of the FSHD Italian National Registry 68
Association between Reported Sleep Disorders and Behavioral Issues in Children with Myotonic Dystrophy Type 1—Results from a Retrospective Analysis in Italy 67
Recurrent Sensory-Motor Neuropathy Mimicking CIDP as Predominant Presentation of PDH Deficiency 65
Pediatric SARS-CoV-2-Related Diplopia and Mesencephalic Abnormalities 64
Myopathologic trajectory in Duchenne muscular dystrophy (DMD) reveals lack of regeneration due to senescence in satellite cells 63
Dolichol-phosphate mannose synthase depletion in zebrafish leads to dystrophic muscle with hypoglycosylated α-dystroglycan 63
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation 62
Functional Characterization of a Novel Intronic Variant in PIEZO2 in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (DAIPT) 59
Automatic Recognition of Ragged Red Fibers in Muscle Biopsy from Patients with Mitochondrial Disorders 58
Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review 58
New phenotype caused by POMGNT2 mutations 55
Treating juvenile dermatomyositis to target: Paediatric Rheumatology European Society/Childhood Arthritis and Rheumatology Research Alliance-endorsed recommendations from an international task force 52
Totale 12.205
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Categoria #
all - tutte 46.788
article - articoli 46.788
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 93.576
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202166 0 0 0 0 0 0 0 0 0 0 0 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
2025/20264.320 491 118 330 280 591 313 602 220 350 387 281 357
Totale 12.845