IRIS
MINETTI, CARLO
 Distribuzione geografica
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Continente #
EU - Europa 31.241
AS - Asia 2.812
NA - Nord America 2.277
Continente sconosciuto - Info sul continente non disponibili 374
SA - Sud America 275
AF - Africa 58
OC - Oceania 15
Totale 37.052
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Nazione #
IT - Italia 30.721
US - Stati Uniti d'America 2.106
SG - Singapore 1.262
CN - Cina 685
VN - Vietnam 386
FR - Francia 237
BD - Bangladesh 204
BR - Brasile 167
HK - Hong Kong 97
CA - Canada 71
FI - Finlandia 62
DE - Germania 61
AR - Argentina 38
GB - Regno Unito 35
CH - Svizzera 34
MX - Messico 33
ID - Indonesia 25
IN - India 23
EC - Ecuador 20
JP - Giappone 20
IQ - Iraq 17
JM - Giamaica 15
AU - Australia 14
CL - Cile 13
ES - Italia 13
NL - Olanda 13
VE - Venezuela 13
CO - Colombia 12
PL - Polonia 11
RU - Federazione Russa 10
SA - Arabia Saudita 10
IE - Irlanda 9
MA - Marocco 9
PH - Filippine 9
TR - Turchia 8
ZA - Sudafrica 8
CR - Costa Rica 7
PR - Porto Rico 7
TT - Trinidad e Tobago 7
AE - Emirati Arabi Uniti 6
HN - Honduras 6
JO - Giordania 6
PK - Pakistan 6
TH - Thailandia 6
UA - Ucraina 6
GT - Guatemala 5
KR - Corea 5
MY - Malesia 5
PT - Portogallo 5
BG - Bulgaria 4
DZ - Algeria 4
EG - Egitto 4
IL - Israele 4
KE - Kenya 4
OM - Oman 4
PE - Perù 4
TW - Taiwan 4
AT - Austria 3
BO - Bolivia 3
ET - Etiopia 3
LB - Libano 3
LT - Lituania 3
NI - Nicaragua 3
RO - Romania 3
SE - Svezia 3
UY - Uruguay 3
AG - Antigua e Barbuda 2
AL - Albania 2
BE - Belgio 2
BH - Bahrain 2
CI - Costa d'Avorio 2
CV - Capo Verde 2
DO - Repubblica Dominicana 2
GE - Georgia 2
GH - Ghana 2
HT - Haiti 2
KG - Kirghizistan 2
LC - Santa Lucia 2
MU - Mauritius 2
NG - Nigeria 2
NO - Norvegia 2
NP - Nepal 2
PY - Paraguay 2
SN - Senegal 2
SV - El Salvador 2
SY - Repubblica araba siriana 2
TN - Tunisia 2
AI - Anguilla 1
AO - Angola 1
AW - Aruba 1
AZ - Azerbaigian 1
BB - Barbados 1
BM - Bermuda 1
BW - Botswana 1
BY - Bielorussia 1
CG - Congo 1
GA - Gabon 1
GP - Guadalupe 1
HU - Ungheria 1
IR - Iran 1
Totale 36.662
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Città #
Genova 20.005
Genoa 6.276
Rapallo 2.504
Vado Ligure 1.700
San Jose 626
Singapore 584
Ashburn 232
Lauterbourg 228
Ho Chi Minh City 116
Beijing 95
Hong Kong 87
New York 86
Hanoi 81
Helsinki 61
Council Bluffs 58
Santa Clara 56
Frankfurt am Main 48
Bordighera 46
Los Angeles 44
Zurich 31
Buffalo 25
Chicago 24
Dallas 24
Mexico City 22
Rome 19
Tianjin 18
Tokyo 17
Houston 15
Milan 14
Atlanta 12
Phoenix 12
London 11
Philadelphia 11
San Francisco 11
Da Nang 10
Dublin 10
Orem 10
Des Moines 9
Florence 9
Haiphong 9
São Paulo 9
Toronto 9
Louisville 8
Naples 8
Nuremberg 8
Quito 8
Shanghai 8
The Bronx 8
Warsaw 8
Washington 8
Chennai 7
City of London 7
Jacksonville 7
Las Vegas 7
Montreal 7
Quảng Ngãi 7
San José 7
Santiago 7
Amman 6
Baghdad 6
Biên Hòa 6
Boston 6
Cardiff 6
Hải Dương 6
Jakarta 6
Kingston 6
Miami 6
Porto Alegre 6
Seattle 6
Amsterdam 5
Bologna 5
Brooklyn 5
Jeddah 5
Johannesburg 5
Madrid 5
Manchester 5
Memphis 5
Olive Branch 5
Thái Bình 5
Turin 5
Alpharetta 4
Bari 4
Cincinnati 4
Columbus 4
Garland 4
Greenville 4
Istanbul 4
Katy 4
Knoxville 4
Lyndhurst 4
Miramar 4
Monroe 4
Nairobi 4
Queens 4
Quận Ba 4
Richmond 4
San Antonio 4
Springfield 4
Thái Nguyên 4
Winnipeg 4
Totale 33.595
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Nome #
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders 243
Aquaporin-4 expression is severely reduced in human sarcoglycanopathies and dysferlinopathies. 224
A novel SCN2A mutation in family with benign familial infantile seizures. 221
Clinical and molecular consequences of exon 78 deletion in DMD gene 218
Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency. 209
'Autoimmune epilepsy' or exasperated search for the etiology of seizures of unknown origin? 207
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 clinical and genetic study of 33 new cases with early-onset absence epilepsy. 200
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
GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features. 193
Respiratory pattern in a FSHD pediatric population 193
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome 192
Lumping encephalopathies with inflammation-mediated status epilepticus: is there enough evidence? 188
Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy 187
Hyccin, the Molecule Mutated in the Leukodystrophy Hypomyelination and Congenital Cataract (HCC), Is a Neuronal Protein. 187
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV) 185
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 185
Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract 185
Dramatic response to levetiracetam in post-ischaemic Holmes' tremor. 184
NovelAMPD2mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities 183
Detection of early nocturnal hypoventilation in neuromuscular disorders 183
Hypomyelination and congenital cataract: Identification of novel mutations in two unrelated families. 182
A proof-of-concept trial of the whey protein alfa-lactalbumin in chronic cortical myoclonus. 182
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy 182
Evaluation of presumably disease causing SCN1A variants in a cohort of common epilepsy syndromes 182
Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy 181
"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
Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy. 179
Linkage analysis and disease models in benign familial infantile seizures: a study of 16 families. 179
Enhancement of Muscle T Regulatory Cells and Improvement of Muscular Dystrophic Process in mdx Mice by Blockade of Extracellular ATP/P2X Axis. 178
Autoantibodies to glutamic acid decarboxylase (GAD) in focal and generalized epilepsy: A study on 233 patients. 175
Early-onset absence epilepsy: SLC2A1 gene analysis and treatment evolution. 175
Natural history and long-term evolution in families with autosomal dominant cortical tremor, myoclonus, and epilepsy. 174
Epilepsy: old drugs do the trick in childhood absence epilepsy. 173
Inflammatory myopathy in a patient with collagen VI mutations 172
A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes 172
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment 172
Clinical and genetic characterization of Chanarin-Dorfman syndrome 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
Progressive exercise intolerance associated with a new muscle-restricted nonsense mutation (G142X) in the mitochondrial cytochrome b gene 169
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
Galloway-Mowat syndrome: an early-onset progressive encephalopathy with intractable epilepsy associated to renal impairment. Two novel cases and review of literature. 168
A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy. 168
The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane. 168
Characterization of MDPL Fibroblasts Carrying the Recurrent p.Ser605del Mutation in POLD1 Gene. 168
Epileptic seizures can follow high doses of oral vardenafil. 167
STXBP1 Encephalopathy: A Neurodevelopmental Disorder Including Epilepsy 167
De novo 12q22.q23.3 duplication associated with temporal lobe epilepsy 167
Benign adult familial myoclonic epilepsy (BAFME): evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian families. 167
Willful modulation of brain activity in disorders of consciousness. 166
Novel FAM126A mutations in hypomyelination and congenital cataract disease. 166
Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 Mutation 165
Clinical Significance of Rare Copy Number Variations in Epilepsy: A Case-Control Survey Using Microarray-Based Comparative Genomic Hybridization. 164
No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy 164
Caveolin-1-Deficient Mice Have An Increased Mammary Stem Cell Population, with Upregulation of Wnt / ?-Catenin Signaling 163
White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1. 163
Temporal lobe abnormalities on brain MRI in healthy volunteers: a prospective case-control study. 163
Familial nonkinesigenic paroxysmal dyskinesia and intracranial calcifications: a new syndrome? 163
Dramatic response to levetiracetam in post-ischaemic Holmes' tremor. 163
Acute quadriplegic myopathy: a complication of treatment with steroids, nondepolarizing blocking agents, or both. 162
Genetic testing in benign familial epilepsies of the first year of life: Clinical and diagnostic significance. 162
Mitochondrial myopathy and respiratory failure associated with a mutation in the mitochondrial tRNA glutamic acid gene. 161
EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement. 161
WES in a family trio suggests involvement of TECPR2 in a complex form of progressive motor neuron disease 160
Refractory, life-threatening status epilepticus in a 3-year-old girl. 160
Mitochondrial DNA deletion in a child with mitochondrial encephalomyopathy, growth hormone deficiency and hypo-parathyroidism 159
Somatic and germline mosaicisms in Severe Myoclonic Epilepsy of Infancy 159
White matter involvement in a family with a novel PDGFB mutation 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
Cerebellar atrophy without cerebellar cortex hyperintensity in infantile neuroaxonal dystrophy (INAD) due to PLA2G6 mutation. 156
Clinical dissection of early onset absence epilepsy in children and prognostic implications. 156
CEREBELLAR WHITE MATTER INVOLVEMENT IN SALLA DISEASE 155
Disruption of muscle basal lamina in congenital muscular dystrophy with merosin deficiency. 154
Familial benign nonprogressive myoclonic epilepsies. 153
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
Ubiquitin expression in acute steroid myopathy with loss of myosin thick filaments. 152
Health-related quality of life and functional changes in DMD: A 12-month longitudinal cohort study 152
Mitochondrial myopathy in a child with a muscle-restricted mutation in the mitochondrial transfer RNAAsn gene. 152
Inherited neuromyotonia: a clinical and genetic study of a family. 151
Myoclonus in mitochondrial disorders. 151
Spinal motor neuron involvement in a patient with homozygous PRUNE mutation 151
Revisiting mitochondrial ocular myopathies: a study from the Italian Network 151
Dystrophin deficiency in young girls with sporadic myopathy and normal karyotype. 150
Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. 150
Antiepileptic drugs under investigation for treatment of focal epilepsy 150
Tubulopathy, endocrinopathies and encephalomyopathy in a child with a novel large-scale mitochondrial DNA deletion. 149
Dystrophin at the plasma membrane of human muscle fibers shows a costameric localization. 148
Tele-monitoring in paediatric and young home-ventilated neuromuscular patients: A multicentre case-control trial 148
Muscular dystrophies: alterations in a limited number of cellular pathways? 147
Autosomal recessive epilepsy associated with contactin 2 mutation is different from familial cortical tremor, myoclonus and epilepsy. 147
Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations. 146
Totale 17.210
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Categoria #
all - tutte 121.015
article - articoli 119.571
book - libri 398
conference - conferenze 733
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 313
Totale 242.030
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20223.206 98 196 381 330 112 151 226 760 107 253 197 395
2022/20233.039 338 200 27 315 493 600 6 229 538 13 246 34
2023/20241.395 94 219 28 162 141 269 85 67 87 13 82 148
2024/20254.318 117 353 137 265 552 468 434 599 182 203 446 562
2025/20267.199 859 195 378 538 948 786 1.254 321 455 645 375 445
2026/2027756 756 0 0 0 0 0 0 0 0 0 0 0
Totale 37.052