IRIS
MINETTI, CARLO
 Distribuzione geografica
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Continente #
EU - Europa 30.715
AS - Asia 49
SA - Sud America 22
AF - Africa 3
NA - Nord America 3
Totale 30.792
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Nazione #
IT - Italia 30.714
CN - Cina 38
BR - Brasile 20
SG - Singapore 9
US - Stati Uniti d'America 3
AR - Argentina 2
MA - Marocco 2
VN - Vietnam 2
CI - Costa d'Avorio 1
FI - Finlandia 1
Totale 30.792
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Città #
Genova 20.048
Genoa 6.358
Rapallo 2.539
Vado Ligure 1.723
Bordighera 46
Beijing 20
Ashburn 3
Ho Chi Minh City 2
Singapore 2
Abidjan 1
Artur Nogueira 1
Berazategui 1
Brasília 1
Cachoeiro de Itapemirim 1
Campina Grande 1
Concepción 1
Cícero Dantas 1
Embu das Artes 1
Extrema 1
Itajubá 1
Itu 1
Jaguariaíva 1
Lappeenranta 1
Maracanaú 1
Marrakesh 1
Petrolina 1
Porto Alegre 1
Rabat 1
Ribeirão Preto 1
Santa Maria do Suaçuí 1
Santa Rita de Caldas 1
Santiago 1
Santo André 1
São Paulo 1
Tucano 1
Xi'an 1
Totale 30.768
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Nome #
A novel SCN2A mutation in family with benign familial infantile seizures. 199
Aquaporin-4 expression is severely reduced in human sarcoglycanopathies and dysferlinopathies. 193
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders 188
Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency. 185
'Autoimmune epilepsy' or exasperated search for the etiology of seizures of unknown origin? 184
Mutations in GMPPB Presenting with Pseudometabolic Myopathy 173
Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy 172
Respiratory pattern in a FSHD pediatric population 172
A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy 171
Dramatic response to levetiracetam in post-ischaemic Holmes' tremor. 169
Clinical and molecular consequences of exon 78 deletion in DMD gene 169
Lumping encephalopathies with inflammation-mediated status epilepticus: is there enough evidence? 167
A clinical and genetic study of 33 new cases with early-onset absence epilepsy. 164
The ubiquitin ligase tripartite-motif-protein 32 is induced in Duchenne muscular dystrophy 164
Impairment of caveolae formation and T-system disorganization in human muscular dystrophy with caveolin-3 deficiency 163
A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiency. 163
Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular Dystrophy. 163
MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients 162
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV) 160
A proof-of-concept trial of the whey protein alfa-lactalbumin in chronic cortical myoclonus. 160
Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy. 158
Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy 158
Natural history and long-term evolution in families with autosomal dominant cortical tremor, myoclonus, and epilepsy. 156
Autoantibodies to glutamic acid decarboxylase (GAD) in focal and generalized epilepsy: A study on 233 patients. 156
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy 156
Hyccin, the Molecule Mutated in the Leukodystrophy Hypomyelination and Congenital Cataract (HCC), Is a Neuronal Protein. 155
Progressive exercise intolerance associated with a new muscle-restricted nonsense mutation (G142X) in the mitochondrial cytochrome b gene 154
GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features. 154
Willful modulation of brain activity in disorders of consciousness. 153
Galloway-Mowat syndrome: an early-onset progressive encephalopathy with intractable epilepsy associated to renal impairment. Two novel cases and review of literature. 153
Hypomyelination and congenital cataract: Identification of novel mutations in two unrelated families. 152
Evaluation of presumably disease causing SCN1A variants in a cohort of common epilepsy syndromes 152
Epilepsy: old drugs do the trick in childhood absence epilepsy. 151
NovelAMPD2mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities 151
Linkage analysis and disease models in benign familial infantile seizures: a study of 16 families. 151
Benign adult familial myoclonic epilepsy (BAFME): evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian families. 151
Early-onset absence epilepsy: SLC2A1 gene analysis and treatment evolution. 150
Dramatic response to levetiracetam in post-ischaemic Holmes' tremor. 150
Caveolin-1-Deficient Mice Have An Increased Mammary Stem Cell Population, with Upregulation of Wnt / ?-Catenin Signaling 149
Familial nonkinesigenic paroxysmal dyskinesia and intracranial calcifications: a new syndrome? 149
Inflammatory myopathy in a patient with collagen VI mutations 149
Epileptic seizures can follow high doses of oral vardenafil. 148
A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes 148
Somatic and germline mosaicisms in Severe Myoclonic Epilepsy of Infancy 147
Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract 147
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome 147
Phenotypic characterization of hypomyelination and congenital cataract 146
Genetic testing in benign familial epilepsies of the first year of life: Clinical and diagnostic significance. 146
Temporal lobe abnormalities on brain MRI in healthy volunteers: a prospective case-control study. 145
White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1. 144
Enhancement of Muscle T Regulatory Cells and Improvement of Muscular Dystrophic Process in mdx Mice by Blockade of Extracellular ATP/P2X Axis. 143
Mitochondrial myopathy in a child with a muscle-restricted mutation in the mitochondrial transfer RNAAsn gene. 143
Clinical and genetic characterization of Chanarin-Dorfman syndrome 142
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 142
Mitochondrial DNA deletion in a child with mitochondrial encephalomyopathy, growth hormone deficiency and hypo-parathyroidism 141
Familial benign nonprogressive myoclonic epilepsies. 141
WES in a family trio suggests involvement of TECPR2 in a complex form of progressive motor neuron disease 141
Mitochondrial myopathy and respiratory failure associated with a mutation in the mitochondrial tRNA glutamic acid gene. 140
Cerebellar atrophy without cerebellar cortex hyperintensity in infantile neuroaxonal dystrophy (INAD) due to PLA2G6 mutation. 140
Refractory, life-threatening status epilepticus in a 3-year-old girl. 140
Detection of early nocturnal hypoventilation in neuromuscular disorders 140
Disruption of muscle basal lamina in congenital muscular dystrophy with merosin deficiency. 140
A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy. 138
Inherited neuromyotonia: a clinical and genetic study of a family. 138
The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane. 138
EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement. 138
Characterization of MDPL Fibroblasts Carrying the Recurrent p.Ser605del Mutation in POLD1 Gene. 138
"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network 137
Dystrophin deficiency in young girls with sporadic myopathy and normal karyotype. 136
Clinical Significance of Rare Copy Number Variations in Epilepsy: A Case-Control Survey Using Microarray-Based Comparative Genomic Hybridization. 136
No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy 136
Muscular dystrophies: alterations in a limited number of cellular pathways? 135
Lesional reflex epilepsy associated with the thought of food. AUTHOR REPLY 135
Chemokine receptor CCR7 is expressed in muscle fibers in juvenile dermatomyositis 135
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder. 134
Acute quadriplegic myopathy: a complication of treatment with steroids, nondepolarizing blocking agents, or both. 134
STXBP1 Encephalopathy: A Neurodevelopmental Disorder Including Epilepsy 134
Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 Mutation 134
POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes. 134
CEREBELLAR WHITE MATTER INVOLVEMENT IN SALLA DISEASE 134
Tubulopathy, endocrinopathies and encephalomyopathy in a child with a novel large-scale mitochondrial DNA deletion. 133
Ubiquitin expression in acute steroid myopathy with loss of myosin thick filaments. 132
Antiepileptic drugs under investigation for treatment of focal epilepsy 132
Spinal motor neuron involvement in a patient with homozygous PRUNE mutation 132
Novel FAM126A mutations in hypomyelination and congenital cataract disease. 132
Dystrophin at the plasma membrane of human muscle fibers shows a costameric localization. 131
Autosomal recessive epilepsy associated with contactin 2 mutation is different from familial cortical tremor, myoclonus and epilepsy. 131
Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. 131
Clinical dissection of early onset absence epilepsy in children and prognostic implications. 131
Two new mutations in the myophosphorylase gene in Italian patients with McArdle's disease. 130
De novo 12q22.q23.3 duplication associated with temporal lobe epilepsy 130
Health-related quality of life and functional changes in DMD: A 12-month longitudinal cohort study 129
Phenotypic behavior of caveolin-3 (R26Q), a mutant associated with hyperCKemia, distal myopathy, and rippling muscle disease 128
Myoclonus in mitochondrial disorders. 128
Beyond spinal muscular atrophy with lower extremity dominance: Cerebellar hypoplasia associated with a novel mutation in BICD2 128
Mosaic expression of dystrophin in carriers of Becker's muscular dystrophy and the X-linked syndrome of myalgia and cramps. 127
Multiplex real-time PCR for detection of deletions and duplications in dystrophin gene. 127
Tele-monitoring in paediatric and young home-ventilated neuromuscular patients: A multicentre case-control trial 127
Motor-function-muscle strength relationship in spinal muscular atrophy. 126
Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy. 126
Totale 14.695
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Categoria #
all - tutte 103.842
article - articoli 102.645
book - libri 348
conference - conferenze 602
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 247
Totale 207.684
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20211.716 0 0 0 258 78 184 126 264 164 249 181 212
2021/20223.235 102 196 381 331 119 153 226 764 107 258 197 401
2022/20233.081 345 200 28 318 499 607 6 232 548 14 250 34
2023/20241.421 95 222 32 164 141 275 86 67 88 15 84 152
2024/20254.372 122 356 137 271 557 473 438 605 186 206 453 568
2025/20261.903 876 198 384 445 0 0 0 0 0 0 0 0
Totale 31.169