IRIS
BRUNO, CLAUDIO
 Distribuzione geografica
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Continente #
EU - Europa 18.456
AS - Asia 2.511
NA - Nord America 1.231
SA - Sud America 231
AF - Africa 54
OC - Oceania 3
Totale 22.486
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Nazione #
IT - Italia 18.030
US - Stati Uniti d'America 1.161
SG - Singapore 1.142
CN - Cina 618
VN - Vietnam 445
FR - Francia 150
BR - Brasile 141
HK - Hong Kong 114
DE - Germania 62
FI - Finlandia 46
GB - Regno Unito 44
MX - Messico 40
AR - Argentina 35
CA - Canada 23
IN - India 22
NL - Olanda 22
ID - Indonesia 20
JP - Giappone 20
EC - Ecuador 17
IQ - Iraq 17
TR - Turchia 17
CH - Svizzera 16
BD - Bangladesh 15
SA - Arabia Saudita 14
UA - Ucraina 13
ES - Italia 12
MA - Marocco 9
PL - Polonia 9
VE - Venezuela 9
CO - Colombia 8
IE - Irlanda 8
JO - Giordania 8
PK - Pakistan 8
RU - Federazione Russa 8
ZA - Sudafrica 8
PH - Filippine 7
TN - Tunisia 7
CL - Cile 6
TH - Thailandia 6
AT - Austria 5
BG - Bulgaria 5
BO - Bolivia 4
DZ - Algeria 4
EG - Egitto 4
MY - Malesia 4
PY - Paraguay 4
SE - Svezia 4
AL - Albania 3
AZ - Azerbaigian 3
GR - Grecia 3
IL - Israele 3
KE - Kenya 3
LB - Libano 3
PE - Perù 3
PT - Portogallo 3
SN - Senegal 3
SY - Repubblica araba siriana 3
TW - Taiwan 3
UY - Uruguay 3
UZ - Uzbekistan 3
AE - Emirati Arabi Uniti 2
AO - Angola 2
AU - Australia 2
CG - Congo 2
ET - Etiopia 2
HR - Croazia 2
HU - Ungheria 2
KW - Kuwait 2
KZ - Kazakistan 2
LT - Lituania 2
NP - Nepal 2
QA - Qatar 2
RO - Romania 2
TT - Trinidad e Tobago 2
BE - Belgio 1
BJ - Benin 1
BN - Brunei Darussalam 1
CI - Costa d'Avorio 1
CM - Camerun 1
CR - Costa Rica 1
CV - Capo Verde 1
CY - Cipro 1
CZ - Repubblica Ceca 1
DK - Danimarca 1
DO - Repubblica Dominicana 1
GH - Ghana 1
GY - Guiana 1
HT - Haiti 1
JM - Giamaica 1
KG - Kirghizistan 1
KR - Corea 1
LY - Libia 1
ML - Mali 1
NG - Nigeria 1
NO - Norvegia 1
NZ - Nuova Zelanda 1
OM - Oman 1
PA - Panama 1
PS - Palestinian Territory 1
SK - Slovacchia (Repubblica Slovacca) 1
Totale 22.484
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Città #
Genova 9.303
Genoa 5.701
Rapallo 1.484
Vado Ligure 1.376
Singapore 515
San Jose 432
Ashburn 199
Lauterbourg 139
Ho Chi Minh City 128
Hong Kong 112
Hanoi 109
Council Bluffs 88
Beijing 85
New York 60
Frankfurt am Main 50
Helsinki 40
Bordighera 32
Mexico City 30
Santa Clara 30
St Louis 30
Da Nang 22
Los Angeles 19
Rome 17
Tokyo 17
Zurich 16
Chicago 15
Orem 15
Milan 14
Tianjin 14
Haiphong 12
Cardiff 10
São Paulo 10
Montreal 9
Amsterdam 8
Dublin 8
Guangzhou 8
Amman 7
Bắc Ninh 7
City of London 7
Dallas 7
Istanbul 7
Jeddah 7
London 7
Quito 7
Shanghai 7
Thái Bình 7
Warsaw 7
Baghdad 6
Biên Hòa 6
Des Moines 6
Hải Dương 6
Bologna 5
Chennai 5
Denver 5
Florence 5
Jakarta 5
Johannesburg 5
Kyiv 5
Nuremberg 5
Poplar 5
Salt Lake City 5
Toronto 5
Atlanta 4
Caracas 4
Huế 4
Lappeenranta 4
Madrid 4
Porto Alegre 4
Shenzhen 4
Stockholm 4
Vienna 4
Ancona 3
Baku 3
Bangkok 3
Casablanca 3
Cincinnati 3
Curitiba 3
Dakar 3
Dammam 3
Guayaquil 3
Loja 3
Melbourne 3
Nairobi 3
Nanjing 3
Naples 3
New Delhi 3
Ninh Bình 3
Phú Nhuận 3
Quảng Ngãi 3
Quận Ba 3
Resistencia 3
Santiago 3
São José dos Campos 3
Thái Nguyên 3
Xi'an 3
Acalanes Ridge 2
Adana 2
Addis Ababa 2
Ankara 2
As Sālimīyah 2
Totale 20.431
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Nome #
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders 233
Aquaporin-4 expression is severely reduced in human sarcoglycanopathies and dysferlinopathies. 219
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 198
A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy 197
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 SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiency. 190
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
Inferior olivary nucleus involvement in pediatric neurodegenerative disorders: does it play a role in neuroimaging pattern-recognition approach? 185
Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy 183
Respiratory pattern in a FSHD pediatric population 183
Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: A multicentric longitudinal study using the Performance of Upper Limb test 182
Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract 176
Impairment of caveolae formation and T-system disorganization in human muscular dystrophy with caveolin-3 deficiency 175
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV) 175
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
"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network 167
Inflammatory myopathy in a patient with collagen VI mutations 167
Progressive exercise intolerance associated with a new muscle-restricted nonsense mutation (G142X) in the mitochondrial cytochrome b gene 166
Phenotypic characterization of hypomyelination and congenital cataract 165
Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutations. 164
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
Clinical and genetic characterization of Chanarin-Dorfman syndrome 163
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
A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy. 161
Dopamine-agonist responsive Parkinsonism in a patient with the SANDO syndrome caused by POLG mutation. 161
Muscle MRI in neutral lipid storage disease (NLSD) 157
Mitochondrial myopathy and respiratory failure associated with a mutation in the mitochondrial tRNA glutamic acid gene. 155
Mitochondrial DNA deletion in a child with mitochondrial encephalomyopathy, growth hormone deficiency and hypo-parathyroidism 153
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
POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes. 150
Chemokine receptor CCR7 is expressed in muscle fibers in juvenile dermatomyositis 148
Health-related quality of life and functional changes in DMD: A 12-month longitudinal cohort study 147
Targeting of Ubiquitin E3 Ligase RNF5 as a Novel Therapeutic Strategy in Neuroectodermal Tumors 147
Tubulopathy, endocrinopathies and encephalomyopathy in a child with a novel large-scale mitochondrial DNA deletion. 146
Myoclonus in mitochondrial disorders. 146
Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. 145
Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder 144
Two new mutations in the myophosphorylase gene in Italian patients with McArdle's disease. 143
Very-long-chain acyl-coenzyme A dehydrogenase deficiency in a child with recurrent myoglobinuria. 142
Multiplex real-time PCR for detection of deletions and duplications in dystrophin gene. 142
Tele-monitoring in paediatric and young home-ventilated neuromuscular patients: A multicentre case-control trial 142
Revisiting mitochondrial ocular myopathies: a study from the Italian Network 142
The genetic basis of undiagnosed muscular dystrophies and myopathies 139
Hypomyelination and Congenital Cataract: Neuroimaging Features of a Novel Inherited White Matter Disorder 137
Vaccination recommendations for patients with neuromuscular disease. 137
Interpreting Genetic Variants in Titin in Patients With Muscle Disorders 137
Therapeutic potential of proteasome inhibition in Duchenne and Becker muscular dystrophies. 137
Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy. 136
Novel mutation in the CPT II gene in a child with periodic febrile myalgia and myoglobinuria. 136
Pharmacological rescue of the dystrophin-glycoprotein complex in Duchenne and Becker skeletal muscle explants by proteasome inhibitor treatment 136
N1303K MUTATION AND DIABETES MELLITUS IN CYSTIC FIBROSIS. 136
Centronuclear myopathies: genotype–phenotype correlation and frequency of defined genetic forms in an Italian cohort 136
[Early myoclonic encephalopathy and spinal muscular atrophy type I]. 135
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
Prevalence of congenital muscular dystrophy in Italy: a population study. 134
Early onset cardiomyopathy associated with the mitochondrial tRNALeu(UUR) 3271T>C MELAS mutation 134
The Hammersmith functional score correlates with the SMN2 copy number: A multicentric study. 133
Caveolinopathies: from the biology of caveolin-3 to human diseases. 133
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
Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial 132
Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy. 131
Peroxisomal acyl-CoA-oxidase deficiency: two new cases 131
Respiratory pattern in a FSDH paediatric population 131
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
Prevalence of Duchenne muscular dystrophy in Italy: a nationwide survey 127
Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression. 127
Gene symbol: GNE. Disease: Inclusion body myopathy. 126
Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a multicentric study. 126
Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitro. 126
Familial isolated hyperCKemia associated with a new mutation in the caveolin-3 (CAV-3) gene 124
Identification of novel WFS1 mutations in Italian children with Wolfram syndrome 124
Congenital muscular dystrophies with defective glycosylation of dystroglycan. A population study. 123
Caveolin-1(-/-)- and caveolin-2(-/-)-deficient mice both display numerous skeletal muscle abnormalities, with tubular aggregate formation. 123
Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation 122
Congenital muscular dystrophies with cognitive impairment. A population study. 122
The spectrum of GNE mutations: allelic heterogeneity for a common phenotype. 122
Isoprostanes in dystrophinopathy: Evidence of increased oxidative stress 121
Redefining phenotypes associated with mitochondrial DNA single deletion. 121
Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean. 121
Clinical and molecular findings in patients with giant axonal neuropathy (GAN) 120
Phenotypic heterogeneity in two unrelated Danon patients associated with the same LAMP2 gene mutation. 120
Natural history of Becker muscular dystrophy: DMD gene mutations predict clinical severity 119
An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia 119
[Muscle phosphorylase deficiency in childhood. A case report]. 118
Forearm semi-ischemic exercise test in pediatric patients. 118
Identification of novel WFS1 mutations in Italian children with Wolfram Syndrome 117
Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuria. 116
Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia 115
Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene. 114
Totale 14.819
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Categoria #
all - tutte 77.261
article - articoli 76.595
book - libri 288
conference - conferenze 378
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 154.522
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021309 0 0 0 0 0 0 0 0 0 121 95 93
2021/20221.627 58 72 146 153 42 86 107 386 81 139 103 254
2022/20231.789 179 158 19 188 253 310 14 124 332 11 188 13
2023/20241.164 63 121 76 169 92 217 86 43 56 29 75 137
2024/20253.630 114 277 119 227 407 398 329 553 147 201 410 448
2025/20266.788 1.040 240 483 595 1.072 555 1.126 401 597 679 0 0
Totale 22.903