IRIS
MINETTI, CARLO
 Distribuzione geografica
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Continente #
EU - Europa 31.179
AS - Asia 2.599
NA - Nord America 1.066
SA - Sud America 236
AF - Africa 58
OC - Oceania 15
Totale 35.153
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Nazione #
IT - Italia 30.692
SG - Singapore 1.258
US - Stati Uniti d'America 1.010
CN - Cina 665
VN - Vietnam 388
FR - Francia 234
BR - Brasile 151
HK - Hong Kong 88
FI - Finlandia 62
DE - Germania 61
AR - Argentina 36
MX - Messico 32
CH - Svizzera 30
GB - Regno Unito 29
BD - Bangladesh 24
ID - Indonesia 24
IN - India 23
JP - Giappone 21
IQ - Iraq 18
EC - Ecuador 15
AU - Australia 14
CA - Canada 11
VE - Venezuela 11
NL - Olanda 10
PH - Filippine 10
ES - Italia 9
IE - Irlanda 9
MA - Marocco 9
PL - Polonia 9
RU - Federazione Russa 9
SA - Arabia Saudita 9
TR - Turchia 8
ZA - Sudafrica 8
CL - Cile 7
CO - Colombia 7
AE - Emirati Arabi Uniti 6
JO - Giordania 6
PK - Pakistan 6
TH - Thailandia 6
KR - Corea 5
UA - Ucraina 5
BG - Bulgaria 4
DZ - Algeria 4
EG - Egitto 4
IL - Israele 4
KE - Kenya 4
OM - Oman 4
TW - Taiwan 4
AT - Austria 3
ET - Etiopia 3
LB - Libano 3
MY - Malesia 3
SE - Svezia 3
TN - Tunisia 3
UY - Uruguay 3
BH - Bahrain 2
BO - Bolivia 2
CI - Costa d'Avorio 2
CV - Capo Verde 2
DO - Repubblica Dominicana 2
GE - Georgia 2
GH - Ghana 2
GT - Guatemala 2
KG - Kirghizistan 2
LC - Santa Lucia 2
LT - Lituania 2
MU - Mauritius 2
NG - Nigeria 2
NO - Norvegia 2
NP - Nepal 2
PE - Perù 2
PY - Paraguay 2
RO - Romania 2
SN - Senegal 2
SY - Repubblica araba siriana 2
TT - Trinidad e Tobago 2
AL - Albania 1
AO - Angola 1
AZ - Azerbaigian 1
BE - Belgio 1
BW - Botswana 1
BY - Bielorussia 1
CG - Congo 1
GA - Gabon 1
HT - Haiti 1
IR - Iran 1
JM - Giamaica 1
KW - Kuwait 1
LS - Lesotho 1
LY - Libia 1
ML - Mali 1
NZ - Nuova Zelanda 1
PA - Panama 1
PR - Porto Rico 1
PS - Palestinian Territory 1
PT - Portogallo 1
QA - Qatar 1
SV - El Salvador 1
TZ - Tanzania 1
UZ - Uzbekistan 1
Totale 35.150
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Città #
Genova 20.033
Genoa 6.322
Rapallo 2.519
Vado Ligure 1.714
Singapore 576
San Jose 497
Lauterbourg 229
Ashburn 134
Ho Chi Minh City 116
Hong Kong 83
Hanoi 82
Beijing 80
Helsinki 61
Council Bluffs 54
Frankfurt am Main 48
Bordighera 46
New York 46
Santa Clara 30
Zurich 30
Los Angeles 22
Mexico City 21
Tokyo 18
Tianjin 17
Da Nang 10
Chicago 9
Dublin 9
Haiphong 9
Orem 9
Nuremberg 8
Shanghai 8
São Paulo 8
Chennai 7
City of London 7
Hải Dương 7
Quảng Ngãi 7
Rome 7
Amman 6
Baghdad 6
Biên Hòa 6
Cardiff 6
Dallas 6
Des Moines 6
Jakarta 6
Quito 6
Warsaw 6
Amsterdam 5
Johannesburg 5
London 5
Madrid 5
Porto Alegre 5
Thái Bình 5
Atlanta 4
Boston 4
Buffalo 4
Florence 4
Istanbul 4
Jeddah 4
Nairobi 4
Quận Ba 4
Santiago 4
Thái Nguyên 4
Abu Dhabi 3
Belo Horizonte 3
Brasília 3
Bình Dương 3
Foshan 3
Huế 3
Long Xuyen 3
Resistencia 3
Ribeirão Preto 3
San Francisco 3
Shijiazhuang 3
Tân Tiến 3
Tây Ninh 3
Vĩnh Long 3
Abidjan 2
Accra 2
Addis Ababa 2
Al Mansurah 2
Ankara 2
Apodaca 2
Araraquara 2
Bangkok 2
Berazategui 2
Bishkek 2
Bogor 2
Buenos Aires 2
Buon Ma Thuot 2
Bình Phước 2
Bắc Ninh 2
Cali 2
Can Tho 2
Caracas 2
Casablanca 2
Castries 2
Ciampino 2
Couva 2
Curitiba 2
Dakar 2
Duhok 2
Totale 33.099
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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
A novel SCN2A mutation in family with benign familial infantile seizures. 214
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
'Autoimmune epilepsy' or exasperated search for the etiology of seizures of unknown origin? 201
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 clinical and genetic study of 33 new cases with early-onset absence epilepsy. 190
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
Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy 183
Respiratory pattern in a FSHD pediatric population 183
Lumping encephalopathies with inflammation-mediated status epilepticus: is there enough evidence? 182
Dramatic response to levetiracetam in post-ischaemic Holmes' tremor. 180
Hyccin, the Molecule Mutated in the Leukodystrophy Hypomyelination and Congenital Cataract (HCC), Is a Neuronal Protein. 180
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome 180
GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features. 179
Therapeutic approaches in the treatment of juvenile dermatomyositis in patients with recent-onset disease and in those experiencing disease flare: an international multicenter PRINTO study 179
NovelAMPD2mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities 178
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
Hypomyelination and congenital cataract: Identification of novel mutations in two unrelated families. 175
A proof-of-concept trial of the whey protein alfa-lactalbumin in chronic cortical myoclonus. 175
Evaluation of presumably disease causing SCN1A variants in a cohort of common epilepsy syndromes 175
Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy. 174
Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy 174
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy 173
Detection of early nocturnal hypoventilation in neuromuscular disorders 171
Early-onset absence epilepsy: SLC2A1 gene analysis and treatment evolution. 170
Enhancement of Muscle T Regulatory Cells and Improvement of Muscular Dystrophic Process in mdx Mice by Blockade of Extracellular ATP/P2X Axis. 169
Natural history and long-term evolution in families with autosomal dominant cortical tremor, myoclonus, and epilepsy. 167
Autoantibodies to glutamic acid decarboxylase (GAD) in focal and generalized epilepsy: A study on 233 patients. 167
"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
Epilepsy: old drugs do the trick in childhood absence epilepsy. 166
Linkage analysis and disease models in benign familial infantile seizures: a study of 16 families. 166
Phenotypic characterization of hypomyelination and congenital cataract 165
The danger signal extracellular ATP is involved in the immunomediated damage of α-sarcoglycan deficient muscular dystrophy 164
Clinical and genetic characterization of Chanarin-Dorfman syndrome 163
Galloway-Mowat syndrome: an early-onset progressive encephalopathy with intractable epilepsy associated to renal impairment. Two novel cases and review of literature. 163
Willful modulation of brain activity in disorders of consciousness. 162
A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes 162
Benign adult familial myoclonic epilepsy (BAFME): evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian families. 162
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
The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane. 161
Epileptic seizures can follow high doses of oral vardenafil. 160
STXBP1 Encephalopathy: A Neurodevelopmental Disorder Including Epilepsy 160
Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 Mutation 160
Dramatic response to levetiracetam in post-ischaemic Holmes' tremor. 160
Caveolin-1-Deficient Mice Have An Increased Mammary Stem Cell Population, with Upregulation of Wnt / ?-Catenin Signaling 159
Familial nonkinesigenic paroxysmal dyskinesia and intracranial calcifications: a new syndrome? 159
Characterization of MDPL Fibroblasts Carrying the Recurrent p.Ser605del Mutation in POLD1 Gene. 159
Temporal lobe abnormalities on brain MRI in healthy volunteers: a prospective case-control study. 158
Novel FAM126A mutations in hypomyelination and congenital cataract disease. 158
White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1. 157
De novo 12q22.q23.3 duplication associated with temporal lobe epilepsy 157
Clinical Significance of Rare Copy Number Variations in Epilepsy: A Case-Control Survey Using Microarray-Based Comparative Genomic Hybridization. 157
EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement. 157
Mitochondrial myopathy and respiratory failure associated with a mutation in the mitochondrial tRNA glutamic acid gene. 155
Somatic and germline mosaicisms in Severe Myoclonic Epilepsy of Infancy 155
Acute quadriplegic myopathy: a complication of treatment with steroids, nondepolarizing blocking agents, or both. 155
Genetic testing in benign familial epilepsies of the first year of life: Clinical and diagnostic significance. 155
WES in a family trio suggests involvement of TECPR2 in a complex form of progressive motor neuron disease 154
Mitochondrial DNA deletion in a child with mitochondrial encephalomyopathy, growth hormone deficiency and hypo-parathyroidism 153
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment 153
Cerebellar atrophy without cerebellar cortex hyperintensity in infantile neuroaxonal dystrophy (INAD) due to PLA2G6 mutation. 152
Beyond spinal muscular atrophy with lower extremity dominance: Cerebellar hypoplasia associated with a novel mutation in BICD2 152
Refractory, life-threatening status epilepticus in a 3-year-old girl. 152
Mitochondrial myopathy in a child with a muscle-restricted mutation in the mitochondrial transfer RNAAsn gene. 152
White matter involvement in a family with a novel PDGFB mutation 151
No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy 151
Disruption of muscle basal lamina in congenital muscular dystrophy with merosin deficiency. 151
POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes. 150
Clinical dissection of early onset absence epilepsy in children and prognostic implications. 150
Familial benign nonprogressive myoclonic epilepsies. 148
Chemokine receptor CCR7 is expressed in muscle fibers in juvenile dermatomyositis 148
Inherited neuromyotonia: a clinical and genetic study of a family. 148
Spinal motor neuron involvement in a patient with homozygous PRUNE mutation 148
Health-related quality of life and functional changes in DMD: A 12-month longitudinal cohort study 147
Antiepileptic drugs under investigation for treatment of focal epilepsy 147
Tubulopathy, endocrinopathies and encephalomyopathy in a child with a novel large-scale mitochondrial DNA deletion. 146
Ubiquitin expression in acute steroid myopathy with loss of myosin thick filaments. 146
Myoclonus in mitochondrial disorders. 146
CEREBELLAR WHITE MATTER INVOLVEMENT IN SALLA DISEASE 146
Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. 145
Muscular dystrophies: alterations in a limited number of cellular pathways? 144
Dystrophin deficiency in young girls with sporadic myopathy and normal karyotype. 144
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder. 144
Dystrophin at the plasma membrane of human muscle fibers shows a costameric localization. 144
Autosomal recessive epilepsy associated with contactin 2 mutation is different from familial cortical tremor, myoclonus and epilepsy. 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
Totale 16.527
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Categoria #
all - tutte 112.171
article - articoli 110.848
book - libri 374
conference - conferenze 670
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 279
Totale 224.342
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021642 0 0 0 0 0 0 0 0 0 249 181 212
2021/20223.219 99 196 381 331 112 152 226 762 107 256 197 400
2022/20233.058 342 200 27 316 497 604 6 229 543 13 247 34
2023/20241.407 95 221 28 163 141 271 85 67 88 15 83 150
2024/20254.349 121 355 137 268 555 471 436 602 184 204 450 566
2025/20266.339 868 196 382 539 955 792 1.262 321 461 563 0 0
Totale 35.529