IRIS
MINETTI, CARLO
 Distribuzione geografica
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Continente #
EU - Europa 30.666
AS - Asia 943
SA - Sud America 166
NA - Nord America 109
AF - Africa 34
OC - Oceania 1
Totale 31.919
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Nazione #
IT - Italia 30.635
SG - Singapore 466
CN - Cina 242
VN - Vietnam 134
BR - Brasile 104
US - Stati Uniti d'America 79
HK - Hong Kong 34
AR - Argentina 29
MX - Messico 21
ID - Indonesia 17
EC - Ecuador 13
IQ - Iraq 12
VE - Venezuela 7
BD - Bangladesh 6
CO - Colombia 6
ES - Italia 6
IN - India 6
MA - Marocco 5
RU - Federazione Russa 5
ZA - Sudafrica 5
PL - Polonia 4
DZ - Algeria 3
JO - Giordania 3
JP - Giappone 3
UY - Uruguay 3
AE - Emirati Arabi Uniti 2
AT - Austria 2
BO - Bolivia 2
CI - Costa d'Avorio 2
CV - Capo Verde 2
DE - Germania 2
DO - Repubblica Dominicana 2
EG - Egitto 2
ET - Etiopia 2
FI - Finlandia 2
GB - Regno Unito 2
IL - Israele 2
LC - Santa Lucia 2
OM - Oman 2
PK - Pakistan 2
SA - Arabia Saudita 2
SE - Svezia 2
SN - Senegal 2
SY - Repubblica araba siriana 2
BG - Bulgaria 1
BH - Bahrain 1
BW - Botswana 1
BY - Bielorussia 1
CA - Canada 1
GA - Gabon 1
GE - Georgia 1
GH - Ghana 1
GT - Guatemala 1
IE - Irlanda 1
IR - Iran 1
JM - Giamaica 1
KE - Kenya 1
KW - Kuwait 1
ML - Mali 1
MU - Mauritius 1
NG - Nigeria 1
NO - Norvegia 1
NP - Nepal 1
NZ - Nuova Zelanda 1
PA - Panama 1
PE - Perù 1
PH - Filippine 1
PY - Paraguay 1
QA - Qatar 1
RO - Romania 1
TN - Tunisia 1
TR - Turchia 1
TT - Trinidad e Tobago 1
TZ - Tanzania 1
UA - Ucraina 1
YT - Mayotte 1
ZM - Zambia 1
Totale 31.919
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Città #
Genova 20.033
Genoa 6.315
Rapallo 2.519
Vado Ligure 1.714
Singapore 233
Beijing 63
Ashburn 47
Bordighera 46
Ho Chi Minh City 41
Hong Kong 34
Hanoi 32
Mexico City 19
Tianjin 15
Los Angeles 9
Quảng Ngãi 7
Quito 6
Hải Dương 5
Jakarta 5
Porto Alegre 5
Thái Bình 5
Haiphong 4
San Jose 4
Amman 3
Biên Hòa 3
Bình Dương 3
Chennai 3
Johannesburg 3
Resistencia 3
São Paulo 3
Tokyo 3
Abidjan 2
Baghdad 2
Berazategui 2
Boston 2
Brasília 2
Buenos Aires 2
Buon Ma Thuot 2
Cali 2
Castries 2
Ciampino 2
Curitiba 2
Dakar 2
Duhok 2
Florence 2
Ibagué 2
Jiaxing 2
Jundiaí 2
Karbala 2
La Plata 2
Madrid 2
Mariano Moreno 2
Montevideo 2
Ninh Bình 2
Nuremberg 2
Ourinhos 2
Posadas 2
Praia 2
Quanzhou 2
Ribeirão Preto 2
Shijiazhuang 2
Stockholm 2
São Bernardo do Campo 2
Thái Nguyên 2
Tây Ninh 2
Warsaw 2
Abu Dhabi 1
Abuja 1
Accra 1
Addis Ababa 1
Afonso Cláudio 1
Al Mansurah 1
Al Maḩallah 1
Alanya 1
Amparo 1
Ancol 1
Aracaju 1
Arapongas 1
Araraquara 1
Araripe 1
Araçariguama 1
Artur Nogueira 1
As Sālimīyah 1
Aurora 1
Baie-D'Urfé 1
Bamako 1
Banyuwangi 1
Barquisimeto 1
Barro 1
Bauru 1
Beau Bassin-Rose Hill 1
Belo Horizonte 1
Belém 1
Bengaluru 1
Bento Gonçalves 1
Bogor 1
Bordj el Kiffan 1
Brest 1
Bucharest 1
Buritama 1
Bạc Liêu 1
Totale 31.290
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Nome #
A novel SCN2A mutation in family with benign familial infantile seizures. 205
Aquaporin-4 expression is severely reduced in human sarcoglycanopathies and dysferlinopathies. 203
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders 199
'Autoimmune epilepsy' or exasperated search for the etiology of seizures of unknown origin? 196
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
Lumping encephalopathies with inflammation-mediated status epilepticus: is there enough evidence? 174
A clinical and genetic study of 33 new cases with early-onset absence epilepsy. 173
Respiratory pattern in a FSHD pediatric population 173
Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular Dystrophy. 172
Dramatic response to levetiracetam in post-ischaemic Holmes' tremor. 170
MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients 170
Impairment of caveolae formation and T-system disorganization in human muscular dystrophy with caveolin-3 deficiency 167
Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy 164
A proof-of-concept trial of the whey protein alfa-lactalbumin in chronic cortical myoclonus. 164
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV) 163
GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features. 162
NovelAMPD2mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities 162
Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy. 161
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy 161
Hyccin, the Molecule Mutated in the Leukodystrophy Hypomyelination and Congenital Cataract (HCC), Is a Neuronal Protein. 161
Autoantibodies to glutamic acid decarboxylase (GAD) in focal and generalized epilepsy: A study on 233 patients. 160
Hypomyelination and congenital cataract: Identification of novel mutations in two unrelated families. 160
Early-onset absence epilepsy: SLC2A1 gene analysis and treatment evolution. 159
Natural history and long-term evolution in families with autosomal dominant cortical tremor, myoclonus, and epilepsy. 158
Evaluation of presumably disease causing SCN1A variants in a cohort of common epilepsy syndromes 157
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
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome 156
Willful modulation of brain activity in disorders of consciousness. 155
Galloway-Mowat syndrome: an early-onset progressive encephalopathy with intractable epilepsy associated to renal impairment. Two novel cases and review of literature. 155
Caveolin-1-Deficient Mice Have An Increased Mammary Stem Cell Population, with Upregulation of Wnt / ?-Catenin Signaling 153
Linkage analysis and disease models in benign familial infantile seizures: a study of 16 families. 153
A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes 153
Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract 153
Epilepsy: old drugs do the trick in childhood absence epilepsy. 152
Enhancement of Muscle T Regulatory Cells and Improvement of Muscular Dystrophic Process in mdx Mice by Blockade of Extracellular ATP/P2X Axis. 152
Benign adult familial myoclonic epilepsy (BAFME): evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian families. 152
Dramatic response to levetiracetam in post-ischaemic Holmes' tremor. 151
Epileptic seizures can follow high doses of oral vardenafil. 150
Familial nonkinesigenic paroxysmal dyskinesia and intracranial calcifications: a new syndrome? 150
Clinical and genetic characterization of Chanarin-Dorfman syndrome 149
Phenotypic characterization of hypomyelination and congenital cataract 149
Temporal lobe abnormalities on brain MRI in healthy volunteers: a prospective case-control study. 149
The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane. 149
Detection of early nocturnal hypoventilation in neuromuscular disorders 149
Somatic and germline mosaicisms in Severe Myoclonic Epilepsy of Infancy 148
"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network 148
Characterization of MDPL Fibroblasts Carrying the Recurrent p.Ser605del Mutation in POLD1 Gene. 148
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 147
Genetic testing in benign familial epilepsies of the first year of life: Clinical and diagnostic significance. 147
EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement. 147
White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1. 146
A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy. 146
Clinical Significance of Rare Copy Number Variations in Epilepsy: A Case-Control Survey Using Microarray-Based Comparative Genomic Hybridization. 145
Mitochondrial myopathy and respiratory failure associated with a mutation in the mitochondrial tRNA glutamic acid gene. 144
WES in a family trio suggests involvement of TECPR2 in a complex form of progressive motor neuron disease 144
Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 Mutation 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
Cerebellar atrophy without cerebellar cortex hyperintensity in infantile neuroaxonal dystrophy (INAD) due to PLA2G6 mutation. 142
Familial benign nonprogressive myoclonic epilepsies. 142
Acute quadriplegic myopathy: a complication of treatment with steroids, nondepolarizing blocking agents, or both. 142
Disruption of muscle basal lamina in congenital muscular dystrophy with merosin deficiency. 142
Inherited neuromyotonia: a clinical and genetic study of a family. 141
STXBP1 Encephalopathy: A Neurodevelopmental Disorder Including Epilepsy 141
De novo 12q22.q23.3 duplication associated with temporal lobe epilepsy 140
Refractory, life-threatening status epilepticus in a 3-year-old girl. 140
No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy 140
White matter involvement in a family with a novel PDGFB mutation 139
Spinal motor neuron involvement in a patient with homozygous PRUNE mutation 139
Clinical dissection of early onset absence epilepsy in children and prognostic implications. 139
Lesional reflex epilepsy associated with the thought of food. AUTHOR REPLY 138
Dystrophin deficiency in young girls with sporadic myopathy and normal karyotype. 138
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
Novel FAM126A mutations in hypomyelination and congenital cataract disease. 137
Muscular dystrophies: alterations in a limited number of cellular pathways? 136
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder. 136
CEREBELLAR WHITE MATTER INVOLVEMENT IN SALLA DISEASE 136
Tubulopathy, endocrinopathies and encephalomyopathy in a child with a novel large-scale mitochondrial DNA deletion. 135
Ubiquitin expression in acute steroid myopathy with loss of myosin thick filaments. 135
Antiepileptic drugs under investigation for treatment of focal epilepsy 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
Dystrophin at the plasma membrane of human muscle fibers shows a costameric localization. 132
Autosomal recessive epilepsy associated with contactin 2 mutation is different from familial cortical tremor, myoclonus and epilepsy. 132
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
Phenotypic behavior of caveolin-3 (R26Q), a mutant associated with hyperCKemia, distal myopathy, and rippling muscle disease 130
Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy. 130
Very-long-chain acyl-coenzyme A dehydrogenase deficiency in a child with recurrent myoglobinuria. 130
Totale 15.222
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Categoria #
all - tutte 107.115
article - articoli 105.864
book - libri 358
conference - conferenze 630
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 263
Totale 214.230
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20211.380 0 0 0 0 0 184 126 264 164 249 181 212
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
2025/20263.105 868 196 382 539 955 165 0 0 0 0 0 0
Totale 32.295