IRIS
MINETTI, CARLO
 Distribuzione geografica
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Continente #
EU - Europa 24.298
Totale 24.298
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Nazione #
IT - Italia 24.298
Totale 24.298
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Città #
Genova 20.048
Rapallo 2.539
Genoa 1.665
Bordighera 46
Totale 24.298
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Nome #
A novel SCN2A mutation in family with benign familial infantile seizures. 160
Aquaporin-4 expression is severely reduced in human sarcoglycanopathies and dysferlinopathies. 150
Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy 148
Impairment of caveolae formation and T-system disorganization in human muscular dystrophy with caveolin-3 deficiency 147
Dramatic response to levetiracetam in post-ischaemic Holmes' tremor. 145
Respiratory pattern in a FSHD pediatric population 142
Progressive exercise intolerance associated with a new muscle-restricted nonsense mutation (G142X) in the mitochondrial cytochrome b gene 141
Natural history and long-term evolution in families with autosomal dominant cortical tremor, myoclonus, and epilepsy. 140
Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency. 140
Lumping encephalopathies with inflammation-mediated status epilepticus: is there enough evidence? 138
Galloway-Mowat syndrome: an early-onset progressive encephalopathy with intractable epilepsy associated to renal impairment. Two novel cases and review of literature. 137
Autoantibodies to glutamic acid decarboxylase (GAD) in focal and generalized epilepsy: A study on 233 patients. 137
Epilepsy: old drugs do the trick in childhood absence epilepsy. 135
Dramatic response to levetiracetam in post-ischaemic Holmes' tremor. 135
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV) 134
Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy. 134
Linkage analysis and disease models in benign familial infantile seizures: a study of 16 families. 134
Willful modulation of brain activity in disorders of consciousness. 132
Early-onset absence epilepsy: SLC2A1 gene analysis and treatment evolution. 132
Somatic and germline mosaicisms in Severe Myoclonic Epilepsy of Infancy 131
Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy 131
Familial nonkinesigenic paroxysmal dyskinesia and intracranial calcifications: a new syndrome? 131
Caveolin-1-Deficient Mice Have An Increased Mammary Stem Cell Population, with Upregulation of Wnt / ?-Catenin Signaling 130
MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients 130
Epileptic seizures can follow high doses of oral vardenafil. 129
Phenotypic characterization of hypomyelination and congenital cataract 128
Benign adult familial myoclonic epilepsy (BAFME): evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian families. 128
A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy 127
Temporal lobe abnormalities on brain MRI in healthy volunteers: a prospective case-control study. 127
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy 126
'Autoimmune epilepsy' or exasperated search for the etiology of seizures of unknown origin? 126
Hypomyelination and congenital cataract: Identification of novel mutations in two unrelated families. 125
Genetic testing in benign familial epilepsies of the first year of life: Clinical and diagnostic significance. 125
Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular Dystrophy. 125
Mitochondrial myopathy and respiratory failure associated with a mutation in the mitochondrial tRNA glutamic acid gene. 124
A clinical and genetic study of 33 new cases with early-onset absence epilepsy. 124
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 124
Mitochondrial myopathy in a child with a muscle-restricted mutation in the mitochondrial transfer RNAAsn gene. 124
White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1. 123
Clinical and molecular consequences of exon 78 deletion in DMD gene 123
Mitochondrial DNA deletion in a child with mitochondrial encephalomyopathy, growth hormone deficiency and hypo-parathyroidism 122
A proof-of-concept trial of the whey protein alfa-lactalbumin in chronic cortical myoclonus. 122
Evaluation of presumably disease causing SCN1A variants in a cohort of common epilepsy syndromes 122
POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes. 122
Disruption of muscle basal lamina in congenital muscular dystrophy with merosin deficiency. 122
Muscular dystrophies: alterations in a limited number of cellular pathways? 121
Inherited neuromyotonia: a clinical and genetic study of a family. 121
Cerebellar atrophy without cerebellar cortex hyperintensity in infantile neuroaxonal dystrophy (INAD) due to PLA2G6 mutation. 119
Dystrophin deficiency in young girls with sporadic myopathy and normal karyotype. 119
WES in a family trio suggests involvement of TECPR2 in a complex form of progressive motor neuron disease 119
Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract 119
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome 119
Two new mutations in the myophosphorylase gene in Italian patients with McArdle's disease. 118
Familial benign nonprogressive myoclonic epilepsies. 117
The ubiquitin ligase tripartite-motif-protein 32 is induced in Duchenne muscular dystrophy 117
Mutations in GMPPB Presenting with Pseudometabolic Myopathy 117
Hyccin, the Molecule Mutated in the Leukodystrophy Hypomyelination and Congenital Cataract (HCC), Is a Neuronal Protein. 117
The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane. 116
NovelAMPD2mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities 116
Tubulopathy, endocrinopathies and encephalomyopathy in a child with a novel large-scale mitochondrial DNA deletion. 115
Inflammatory myopathy in a patient with collagen VI mutations 115
GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features. 114
Dystrophin at the plasma membrane of human muscle fibers shows a costameric localization. 114
Autosomal recessive epilepsy associated with contactin 2 mutation is different from familial cortical tremor, myoclonus and epilepsy. 114
A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiency. 114
Motor-function-muscle strength relationship in spinal muscular atrophy. 113
Lesional reflex epilepsy associated with the thought of food. AUTHOR REPLY 113
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder. 113
Ubiquitin expression in acute steroid myopathy with loss of myosin thick filaments. 113
Enhancement of Muscle T Regulatory Cells and Improvement of Muscular Dystrophic Process in mdx Mice by Blockade of Extracellular ATP/P2X Axis. 113
Phenotypic behavior of caveolin-3 (R26Q), a mutant associated with hyperCKemia, distal myopathy, and rippling muscle disease 112
International consensus on a proposed score system for muscle biopsy evaluation in patients with juvenile dermatomyositis: a tool for potential use in clinical trials 112
Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations. 112
Caveolinopathies: mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases 112
Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. 112
Clinical and genetic characterization of Chanarin-Dorfman syndrome 111
A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy. 111
Very-long-chain acyl-coenzyme A dehydrogenase deficiency in a child with recurrent myoglobinuria. 111
Spinal motor neuron involvement in a patient with homozygous PRUNE mutation 111
Clinical Significance of Rare Copy Number Variations in Epilepsy: A Case-Control Survey Using Microarray-Based Comparative Genomic Hybridization. 111
Detection of early nocturnal hypoventilation in neuromuscular disorders 111
Electroclinical and genetic findings in a family with cortical tremor, myoclonus, and epilepsy. 110
Transgenic overexpression of caveolin-3 in skeletal muscle fibers induces a Duchenne-like muscular dystrophy phenotype 110
CEREBELLAR WHITE MATTER INVOLVEMENT IN SALLA DISEASE 110
Characterization of MDPL Fibroblasts Carrying the Recurrent p.Ser605del Mutation in POLD1 Gene. 110
Dystrophinopathy in isolated cases of myopathy in females. 109
Antiepileptic drugs under investigation for treatment of focal epilepsy 109
Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 Mutation 109
Vaccination recommendations for patients with neuromuscular disease. 108
Health-related quality of life and functional changes in DMD: A 12-month longitudinal cohort study 108
Multiplex real-time PCR for detection of deletions and duplications in dystrophin gene. 108
Interpreting Genetic Variants in Titin in Patients With Muscle Disorders 108
Refractory, life-threatening status epilepticus in a 3-year-old girl. 108
A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes 108
Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy. 107
Early decrease of IIx myosin heavy chain transcripts in Duchenne muscular dystrophy. 107
Severe dystrophinopathy in a patient with congenital hypotonia. 107
Temporal lobe epilepsy and hippocampal malrotation: is there a causal association? 107
Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy. 106
Caveolinopathies: from the biology of caveolin-3 to human diseases. 106
Totale 12.119
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Categoria #
all - tutte 67.067
article - articoli 66.391
book - libri 218
conference - conferenze 330
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 128
Totale 134.134
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/20191.452 0 0 0 0 0 0 0 0 0 0 813 639
2019/20207.442 341 241 279 478 645 797 1.378 594 647 1.113 693 236
2020/20212.192 123 146 207 258 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
2023/20241.185 95 222 32 164 141 275 86 67 88 15 0 0
Totale 24.658