IRIS
BRUNO, CLAUDIO
 Distribuzione geografica
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Continente #
EU - Europa 18.746
NA - Nord America 4.026
AS - Asia 3.001
Continente sconosciuto - Info sul continente non disponibili 457
SA - Sud America 263
AF - Africa 56
OC - Oceania 3
Totale 26.552
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Nazione #
IT - Italia 18.282
US - Stati Uniti d'America 3.831
SG - Singapore 1.158
CN - Cina 658
VN - Vietnam 453
BD - Bangladesh 428
BR - Brasile 159
FR - Francia 155
HK - Hong Kong 122
CA - Canada 89
DE - Germania 62
GB - Regno Unito 51
FI - Finlandia 46
MX - Messico 42
AR - Argentina 37
NL - Olanda 28
EC - Ecuador 22
IN - India 22
ID - Indonesia 21
JM - Giamaica 21
ES - Italia 20
JP - Giappone 20
CH - Svizzera 19
IQ - Iraq 18
TR - Turchia 17
SA - Arabia Saudita 14
UA - Ucraina 13
VE - Venezuela 10
CO - Colombia 9
MA - Marocco 9
PL - Polonia 9
CL - Cile 8
IE - Irlanda 8
JO - Giordania 8
PK - Pakistan 8
RU - Federazione Russa 8
TN - Tunisia 8
TT - Trinidad e Tobago 8
ZA - Sudafrica 8
CR - Costa Rica 7
HN - Honduras 7
PH - Filippine 7
TH - Thailandia 7
BG - Bulgaria 6
PE - Perù 6
PT - Portogallo 6
AT - Austria 5
BO - Bolivia 4
DZ - Algeria 4
EG - Egitto 4
GR - Grecia 4
GT - Guatemala 4
MY - Malesia 4
PY - Paraguay 4
SE - Svezia 4
AE - Emirati Arabi Uniti 3
AL - Albania 3
AZ - Azerbaigian 3
IL - Israele 3
KE - Kenya 3
LB - Libano 3
LT - Lituania 3
NI - Nicaragua 3
PR - Porto Rico 3
RO - Romania 3
SN - Senegal 3
SV - El Salvador 3
SY - Repubblica araba siriana 3
TW - Taiwan 3
UY - Uruguay 3
UZ - Uzbekistan 3
AO - Angola 2
AU - Australia 2
CG - Congo 2
EE - Estonia 2
ET - Etiopia 2
HR - Croazia 2
HU - Ungheria 2
KW - Kuwait 2
KZ - Kazakistan 2
ML - Mali 2
NP - Nepal 2
QA - Qatar 2
AW - Aruba 1
BB - Barbados 1
BE - Belgio 1
BJ - Benin 1
BN - Brunei Darussalam 1
CI - Costa d'Avorio 1
CM - Camerun 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
KG - Kirghizistan 1
KN - Saint Kitts e Nevis 1
Totale 26.081
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Città #
Genova 9.303
Genoa 5.715
Rapallo 1.484
Vado Ligure 1.377
San Jose 621
Singapore 528
Ashburn 395
New York 141
Lauterbourg 139
Ho Chi Minh City 134
Hong Kong 113
Beijing 111
Hanoi 110
Council Bluffs 91
Los Angeles 68
Dallas 61
Santa Clara 57
Frankfurt am Main 50
Chicago 48
Milan 42
Helsinki 40
Rome 37
Houston 33
Bordighera 32
St Louis 32
Mexico City 31
Buffalo 30
Boardman 27
Da Nang 23
Atlanta 21
Toronto 20
Montreal 19
Bar Harbor 18
Miami 18
Philadelphia 18
Orem 17
Phoenix 17
San Francisco 17
Tokyo 17
Zurich 17
Denver 15
Tianjin 14
Brooklyn 13
The Bronx 13
Haiphong 12
Jacksonville 12
San Antonio 12
Bologna 11
Charlotte 11
Quito 11
Washington 11
Cardiff 10
Dublin 10
Florence 10
Kingston 10
Las Vegas 10
Minneapolis 10
Naples 10
São Paulo 10
Columbus 9
London 9
Newark 9
Orlando 9
Queens 9
Amsterdam 8
Cincinnati 8
Guangzhou 8
Palermo 8
Salt Lake City 8
Seattle 8
Warsaw 8
Amman 7
Arlington 7
Baghdad 7
Bắc Ninh 7
City of London 7
Des Moines 7
Istanbul 7
Jeddah 7
Louisville 7
Medford 7
Memphis 7
Richmond 7
San José 7
Shanghai 7
Thái Bình 7
Biên Hòa 6
Cleveland 6
Garland 6
Hải Dương 6
Jakarta 6
Long Beach 6
Nashville 6
Oklahoma City 6
Pasadena 6
Piscataway 6
San Diego 6
Turin 6
Charleston 5
Chennai 5
Totale 21.575
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Nome #
Natural history of Becker muscular dystrophy: DMD gene mutations predict clinical severity 1.316
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders 243
Aquaporin-4 expression is severely reduced in human sarcoglycanopathies and dysferlinopathies. 224
Clinical and molecular consequences of exon 78 deletion in DMD gene 218
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy 215
Nusinersen versus sham control in infantile-onset spinal muscular atrophy 211
Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency. 209
Mutations in GMPPB Presenting with Pseudometabolic Myopathy 207
A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy 204
Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular Dystrophy. 202
MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients 201
A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiency. 199
The ubiquitin ligase tripartite-motif-protein 32 is induced in Duchenne muscular dystrophy 198
Respiratory pattern in a FSHD pediatric population 193
Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: A multicentric longitudinal study using the Performance of Upper Limb test 192
Inferior olivary nucleus involvement in pediatric neurodegenerative disorders: does it play a role in neuroimaging pattern-recognition approach? 190
Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy 187
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV) 185
Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract 185
Muscle MRI in neutral lipid storage disease (NLSD) 185
Detection of early nocturnal hypoventilation in neuromuscular disorders 183
"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network 180
Impairment of caveolae formation and T-system disorganization in human muscular dystrophy with caveolin-3 deficiency 179
Enhancement of Muscle T Regulatory Cells and Improvement of Muscular Dystrophic Process in mdx Mice by Blockade of Extracellular ATP/P2X Axis. 178
Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutations. 174
Inflammatory myopathy in a patient with collagen VI mutations 172
Progressive exercise intolerance associated with a new muscle-restricted nonsense mutation (G142X) in the mitochondrial cytochrome b gene 170
Clinical and genetic characterization of Chanarin-Dorfman syndrome 170
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study 170
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. 170
Phenotypic characterization of hypomyelination and congenital cataract 169
The danger signal extracellular ATP is involved in the immunomediated damage of α-sarcoglycan deficient muscular dystrophy 169
Italian recommendations for diagnosis and management of congenital myasthenic syndromes 169
A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy. 168
Dopamine-agonist responsive Parkinsonism in a patient with the SANDO syndrome caused by POLG mutation. 166
Targeting of Ubiquitin E3 Ligase RNF5 as a Novel Therapeutic Strategy in Neuroectodermal Tumors 166
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment 164
Mitochondrial myopathy and respiratory failure associated with a mutation in the mitochondrial tRNA glutamic acid gene. 161
Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial 160
Mitochondrial DNA deletion in a child with mitochondrial encephalomyopathy, growth hormone deficiency and hypo-parathyroidism 159
POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes. 159
Beyond spinal muscular atrophy with lower extremity dominance: Cerebellar hypoplasia associated with a novel mutation in BICD2 158
Chemokine receptor CCR7 is expressed in muscle fibers in juvenile dermatomyositis 153
Congenital myopathies: Clinical phenotypes and new diagnostic tools 153
The genetic basis of undiagnosed muscular dystrophies and myopathies 153
Prevalence of Duchenne muscular dystrophy in Italy: a nationwide survey 152
Health-related quality of life and functional changes in DMD: A 12-month longitudinal cohort study 152
Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder 152
Mitochondrial myopathy in a child with a muscle-restricted mutation in the mitochondrial transfer RNAAsn gene. 152
Myoclonus in mitochondrial disorders. 151
Revisiting mitochondrial ocular myopathies: a study from the Italian Network 151
Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. 150
Tubulopathy, endocrinopathies and encephalomyopathy in a child with a novel large-scale mitochondrial DNA deletion. 149
Tele-monitoring in paediatric and young home-ventilated neuromuscular patients: A multicentre case-control trial 148
Two new mutations in the myophosphorylase gene in Italian patients with McArdle's disease. 145
Vaccination recommendations for patients with neuromuscular disease. 144
Multiplex real-time PCR for detection of deletions and duplications in dystrophin gene. 144
Centronuclear myopathies: genotype–phenotype correlation and frequency of defined genetic forms in an Italian cohort 144
Very-long-chain acyl-coenzyme A dehydrogenase deficiency in a child with recurrent myoglobinuria. 143
Hypomyelination and Congenital Cataract: Neuroimaging Features of a Novel Inherited White Matter Disorder 143
Prevalence of congenital muscular dystrophy in Italy: a population study. 143
Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers 143
Therapeutic potential of proteasome inhibition in Duchenne and Becker muscular dystrophies. 143
N1303K MUTATION AND DIABETES MELLITUS IN CYSTIC FIBROSIS. 143
Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy. 142
[Early myoclonic encephalopathy and spinal muscular atrophy type I]. 142
Respiratory pattern in a FSDH paediatric population 141
Caveolinopathies: from the biology of caveolin-3 to human diseases. 140
Novel mutation in the CPT II gene in a child with periodic febrile myalgia and myoglobinuria. 139
Interpreting Genetic Variants in Titin in Patients With Muscle Disorders 139
Pharmacological rescue of the dystrophin-glycoprotein complex in Duchenne and Becker skeletal muscle explants by proteasome inhibitor treatment 138
Peroxisomal acyl-CoA-oxidase deficiency: two new cases 138
Early onset cardiomyopathy associated with the mitochondrial tRNALeu(UUR) 3271T>C MELAS mutation 138
The Hammersmith functional score correlates with the SMN2 copy number: A multicentric study. 137
Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development. 137
Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy. 133
Gene symbol: GNE. Disease: Inclusion body myopathy. 132
An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia 131
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease 131
Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression. 130
Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitro. 130
Copy number variants account for a tiny fraction of undiagnosed myopathic patients 130
Familial isolated hyperCKemia associated with a new mutation in the caveolin-3 (CAV-3) gene 129
Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a multicentric study. 129
Identification of novel WFS1 mutations in Italian children with Wolfram syndrome 129
Caveolin-1(-/-)- and caveolin-2(-/-)-deficient mice both display numerous skeletal muscle abnormalities, with tubular aggregate formation. 129
The spectrum of GNE mutations: allelic heterogeneity for a common phenotype. 129
Redefining phenotypes associated with mitochondrial DNA single deletion. 128
Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation 127
Congenital muscular dystrophies with defective glycosylation of dystroglycan. A population study. 126
Congenital muscular dystrophies with cognitive impairment. A population study. 126
Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy 125
Identification of novel WFS1 mutations in Italian children with Wolfram Syndrome 125
Isoprostanes in dystrophinopathy: Evidence of increased oxidative stress 124
Clinical and molecular findings in patients with giant axonal neuropathy (GAN) 124
Phenotypic heterogeneity in two unrelated Danon patients associated with the same LAMP2 gene mutation. 124
[Muscle phosphorylase deficiency in childhood. A case report]. 123
Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuria. 122
Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean. 122
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study 122
Totale 16.840
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Categoria #
all - tutte 88.464
article - articoli 87.740
book - libri 309
conference - conferenze 415
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 176.928
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
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
2024/20253.629 114 277 119 227 407 398 329 553 147 201 410 447
2025/20269.616 1.040 238 482 594 1.072 555 1.126 401 597 780 1.969 762
2026/2027822 822 0 0 0 0 0 0 0 0 0 0 0
Totale 26.552