IRIS
BRUNO, CLAUDIO
 Distribuzione geografica
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Continente #
EU - Europa 17.935
AS - Asia 1.003
SA - Sud America 159
NA - Nord America 156
AF - Africa 26
Totale 19.279
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Nazione #
IT - Italia 17.894
SG - Singapore 475
CN - Cina 232
VN - Vietnam 198
US - Stati Uniti d'America 119
BR - Brasile 103
HK - Hong Kong 36
MX - Messico 28
AR - Argentina 25
ID - Indonesia 17
EC - Ecuador 11
IQ - Iraq 9
ES - Italia 7
GB - Regno Unito 7
IN - India 7
MA - Marocco 6
RU - Federazione Russa 6
CA - Canada 5
NL - Olanda 5
VE - Venezuela 5
BD - Bangladesh 4
BO - Bolivia 4
PL - Polonia 4
ZA - Sudafrica 4
CO - Colombia 3
EG - Egitto 3
JO - Giordania 3
PK - Pakistan 3
CL - Cile 2
DZ - Algeria 2
FR - Francia 2
IL - Israele 2
KW - Kuwait 2
KZ - Kazakistan 2
LB - Libano 2
PE - Perù 2
PY - Paraguay 2
QA - Qatar 2
SE - Svezia 2
SN - Senegal 2
SY - Repubblica araba siriana 2
TN - Tunisia 2
TR - Turchia 2
UA - Ucraina 2
UY - Uruguay 2
AE - Emirati Arabi Uniti 1
AL - Albania 1
AO - Angola 1
AT - Austria 1
AZ - Azerbaigian 1
BG - Bulgaria 1
BN - Brunei Darussalam 1
CI - Costa d'Avorio 1
CV - Capo Verde 1
DO - Repubblica Dominicana 1
HR - Croazia 1
HU - Ungheria 1
JM - Giamaica 1
JP - Giappone 1
KE - Kenya 1
ML - Mali 1
PA - Panama 1
SA - Arabia Saudita 1
SK - Slovacchia (Repubblica Slovacca) 1
TT - Trinidad e Tobago 1
YT - Mayotte 1
ZW - Zimbabwe 1
Totale 19.279
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Città #
Genova 9.303
Genoa 5.685
Rapallo 1.484
Vado Ligure 1.376
Singapore 146
Beijing 73
Ashburn 72
Ho Chi Minh City 68
Hanoi 52
Hong Kong 36
Bordighera 32
Mexico City 23
Tianjin 13
Los Angeles 8
Haiphong 7
Da Nang 6
São Paulo 6
Bắc Ninh 5
Jakarta 5
Thái Bình 5
Biên Hòa 4
Hải Dương 4
Johannesburg 4
Montreal 4
Quito 4
Amman 3
Baghdad 3
Chennai 3
Cincinnati 3
Curitiba 3
Denver 3
Milan 3
New York 3
Porto Alegre 3
Resistencia 3
Rome 3
Santa Clara 3
Warsaw 3
As Sālimīyah 2
Bình Dương 2
Casablanca 2
Caxias do Sul 2
Chicago 2
City of London 2
Ciudad del Este 2
Dakar 2
Doha 2
Guangzhou 2
Guarulhos 2
Guayaquil 2
La Paz 2
La Plata 2
Loja 2
Madrid 2
Magé 2
Manaus 2
Mariano Moreno 2
Ninh Bình 2
Poplar 2
Quảng Ngãi 2
Rio de Janeiro 2
San Jose 2
San Luis 2
Stockholm 2
São José dos Campos 2
Vinh 2
Yên Bái 2
Abidjan 1
Afonso Cláudio 1
Agadir 1
Al Maḩallah 1
Alanya 1
Almaty 1
Aquidabã 1
Aracaju 1
Araraquara 1
Araripe 1
Araxá 1
Arroio Grande 1
Atlanta 1
Baku 1
Balsas 1
Bamako 1
Bandar Seri Begawan 1
Banyuwangi 1
Barro 1
Beirut 1
Bengaluru 1
Benguela 1
Bento Gonçalves 1
Betânia do Piauí 1
Boston 1
Bragado 1
Brasília 1
Bratislava 1
Buenos Aires 1
Buon Ma Thuot 1
Buritama 1
Bến Cầu 1
Bến Tre 1
Totale 18.555
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Nome #
Aquaporin-4 expression is severely reduced in human sarcoglycanopathies and dysferlinopathies. 203
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
A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy 182
Clinical and molecular consequences of exon 78 deletion in DMD gene 180
Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy 175
A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiency. 175
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
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
Inferior olivary nucleus involvement in pediatric neurodegenerative disorders: does it play a role in neuroimaging pattern-recognition approach? 168
Impairment of caveolae formation and T-system disorganization in human muscular dystrophy with caveolin-3 deficiency 167
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV) 163
Inflammatory myopathy in a patient with collagen VI mutations 157
Progressive exercise intolerance associated with a new muscle-restricted nonsense mutation (G142X) in the mitochondrial cytochrome b gene 156
Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutations. 155
Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: A multicentric longitudinal study using the Performance of Upper Limb test 153
Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract 153
Enhancement of Muscle T Regulatory Cells and Improvement of Muscular Dystrophic Process in mdx Mice by Blockade of Extracellular ATP/P2X Axis. 152
Dopamine-agonist responsive Parkinsonism in a patient with the SANDO syndrome caused by POLG mutation. 151
Clinical and genetic characterization of Chanarin-Dorfman syndrome 149
Phenotypic characterization of hypomyelination and congenital cataract 149
Detection of early nocturnal hypoventilation in neuromuscular disorders 149
"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network 148
A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy. 146
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
Mitochondrial myopathy and respiratory failure associated with a mutation in the mitochondrial tRNA glutamic acid gene. 144
Mitochondrial myopathy in a child with a muscle-restricted mutation in the mitochondrial transfer RNAAsn gene. 144
Mitochondrial DNA deletion in a child with mitochondrial encephalomyopathy, growth hormone deficiency and hypo-parathyroidism 142
Chemokine receptor CCR7 is expressed in muscle fibers in juvenile dermatomyositis 138
POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes. 138
Myoclonus in mitochondrial disorders. 137
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
Tubulopathy, endocrinopathies and encephalomyopathy in a child with a novel large-scale mitochondrial DNA deletion. 135
Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder 134
Health-related quality of life and functional changes in DMD: A 12-month longitudinal cohort study 133
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
Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. 132
Two new mutations in the myophosphorylase gene in Italian patients with McArdle's disease. 131
Very-long-chain acyl-coenzyme A dehydrogenase deficiency in a child with recurrent myoglobinuria. 130
Tele-monitoring in paediatric and young home-ventilated neuromuscular patients: A multicentre case-control trial 130
Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy. 129
Pharmacological rescue of the dystrophin-glycoprotein complex in Duchenne and Becker skeletal muscle explants by proteasome inhibitor treatment 129
Multiplex real-time PCR for detection of deletions and duplications in dystrophin gene. 129
Interpreting Genetic Variants in Titin in Patients With Muscle Disorders 129
Therapeutic potential of proteasome inhibition in Duchenne and Becker muscular dystrophies. 128
The Hammersmith functional score correlates with the SMN2 copy number: A multicentric study. 126
Vaccination recommendations for patients with neuromuscular disease. 126
Hypomyelination and Congenital Cataract: Neuroimaging Features of a Novel Inherited White Matter Disorder 125
Centronuclear myopathies: genotype–phenotype correlation and frequency of defined genetic forms in an Italian cohort 125
Caveolinopathies: from the biology of caveolin-3 to human diseases. 124
Novel mutation in the CPT II gene in a child with periodic febrile myalgia and myoglobinuria. 124
N1303K MUTATION AND DIABETES MELLITUS IN CYSTIC FIBROSIS. 124
Prevalence of congenital muscular dystrophy in Italy: a population study. 123
Respiratory pattern in a FSDH paediatric population 123
Revisiting mitochondrial ocular myopathies: a study from the Italian Network 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
Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy. 121
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease 121
[Early myoclonic encephalopathy and spinal muscular atrophy type I]. 118
Peroxisomal acyl-CoA-oxidase deficiency: two new cases 118
Congenital muscular dystrophies with defective glycosylation of dystroglycan. A population study. 117
Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers 117
Clinical and molecular findings in patients with giant axonal neuropathy (GAN) 116
Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation 116
Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression. 116
Copy number variants account for a tiny fraction of undiagnosed myopathic patients 116
Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a multicentric study. 115
Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitro. 115
Familial isolated hyperCKemia associated with a new mutation in the caveolin-3 (CAV-3) gene 114
Isoprostanes in dystrophinopathy: Evidence of increased oxidative stress 114
Caveolin-1(-/-)- and caveolin-2(-/-)-deficient mice both display numerous skeletal muscle abnormalities, with tubular aggregate formation. 114
Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean. 114
Congenital muscular dystrophies with cognitive impairment. A population study. 113
Phenotypic heterogeneity in two unrelated Danon patients associated with the same LAMP2 gene mutation. 113
Gene symbol: GNE. Disease: Inclusion body myopathy. 112
Identification of novel WFS1 mutations in Italian children with Wolfram syndrome 112
The spectrum of GNE mutations: allelic heterogeneity for a common phenotype. 112
Redefining phenotypes associated with mitochondrial DNA single deletion. 111
Targeting of Ubiquitin E3 Ligase RNF5 as a Novel Therapeutic Strategy in Neuroectodermal Tumors 110
Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuria. 108
[Muscle phosphorylase deficiency in childhood. A case report]. 107
Forearm semi-ischemic exercise test in pediatric patients. 106
Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia 105
Identification of novel WFS1 mutations in Italian children with Wolfram Syndrome 105
Early onset cardiomyopathy associated with the mitochondrial tRNALeu(UUR) 3271T>C MELAS mutation 105
Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene. 104
The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender? 103
Truncation of Caveolin-3 causes autosomal-recessive Rippling Muscle Disease 102
Neuromuscular forms of glycogen branching enzyme deficiency. 101
An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia 100
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment 99
Totale 13.424
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Categoria #
all - tutte 72.036
article - articoli 71.403
book - libri 275
conference - conferenze 358
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 144.072
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021694 0 0 0 0 0 104 76 127 78 121 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
2025/20263.560 1.040 240 483 595 1.072 130 0 0 0 0 0 0
Totale 19.675