IRIS
MINETTI, CARLO
 Distribuzione geografica
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Continente #
EU - Europa 25.253
Totale 25.253
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Nazione #
IT - Italia 25.253
Totale 25.253
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Città #
Genova 20.048
Rapallo 2.539
Genoa 1.974
Vado Ligure 646
Bordighera 46
Totale 25.253
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Nome #
A novel SCN2A mutation in family with benign familial infantile seizures. 164
Aquaporin-4 expression is severely reduced in human sarcoglycanopathies and dysferlinopathies. 158
Impairment of caveolae formation and T-system disorganization in human muscular dystrophy with caveolin-3 deficiency 150
Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy 150
Dramatic response to levetiracetam in post-ischaemic Holmes' tremor. 148
Respiratory pattern in a FSHD pediatric population 147
Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency. 146
Progressive exercise intolerance associated with a new muscle-restricted nonsense mutation (G142X) in the mitochondrial cytochrome b gene 143
Natural history and long-term evolution in families with autosomal dominant cortical tremor, myoclonus, and epilepsy. 143
Lumping encephalopathies with inflammation-mediated status epilepticus: is there enough evidence? 141
Galloway-Mowat syndrome: an early-onset progressive encephalopathy with intractable epilepsy associated to renal impairment. Two novel cases and review of literature. 139
Autoantibodies to glutamic acid decarboxylase (GAD) in focal and generalized epilepsy: A study on 233 patients. 139
Epilepsy: old drugs do the trick in childhood absence epilepsy. 138
Dramatic response to levetiracetam in post-ischaemic Holmes' tremor. 138
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV) 137
Willful modulation of brain activity in disorders of consciousness. 137
Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy. 137
A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy 136
Early-onset absence epilepsy: SLC2A1 gene analysis and treatment evolution. 136
MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients 136
Linkage analysis and disease models in benign familial infantile seizures: a study of 16 families. 135
Somatic and germline mosaicisms in Severe Myoclonic Epilepsy of Infancy 133
Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy 133
Familial nonkinesigenic paroxysmal dyskinesia and intracranial calcifications: a new syndrome? 133
Caveolin-1-Deficient Mice Have An Increased Mammary Stem Cell Population, with Upregulation of Wnt / ?-Catenin Signaling 132
Epileptic seizures can follow high doses of oral vardenafil. 132
'Autoimmune epilepsy' or exasperated search for the etiology of seizures of unknown origin? 132
Temporal lobe abnormalities on brain MRI in healthy volunteers: a prospective case-control study. 131
Phenotypic characterization of hypomyelination and congenital cataract 130
A clinical and genetic study of 33 new cases with early-onset absence epilepsy. 130
Benign adult familial myoclonic epilepsy (BAFME): evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian families. 129
Hypomyelination and congenital cataract: Identification of novel mutations in two unrelated families. 128
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy 128
Mutations in GMPPB Presenting with Pseudometabolic Myopathy 128
Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular Dystrophy. 128
A proof-of-concept trial of the whey protein alfa-lactalbumin in chronic cortical myoclonus. 127
Evaluation of presumably disease causing SCN1A variants in a cohort of common epilepsy syndromes 127
Genetic testing in benign familial epilepsies of the first year of life: Clinical and diagnostic significance. 127
Clinical and molecular consequences of exon 78 deletion in DMD gene 127
Mitochondrial myopathy in a child with a muscle-restricted mutation in the mitochondrial transfer RNAAsn gene. 127
Mitochondrial myopathy and respiratory failure associated with a mutation in the mitochondrial tRNA glutamic acid gene. 126
White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1. 126
A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiency. 126
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 126
The ubiquitin ligase tripartite-motif-protein 32 is induced in Duchenne muscular dystrophy 125
Cerebellar atrophy without cerebellar cortex hyperintensity in infantile neuroaxonal dystrophy (INAD) due to PLA2G6 mutation. 124
Inherited neuromyotonia: a clinical and genetic study of a family. 124
POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes. 124
Disruption of muscle basal lamina in congenital muscular dystrophy with merosin deficiency. 124
Muscular dystrophies: alterations in a limited number of cellular pathways? 123
Mitochondrial DNA deletion in a child with mitochondrial encephalomyopathy, growth hormone deficiency and hypo-parathyroidism 123
Dystrophin deficiency in young girls with sporadic myopathy and normal karyotype. 122
The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane. 122
Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract 122
Familial benign nonprogressive myoclonic epilepsies. 121
Inflammatory myopathy in a patient with collagen VI mutations 121
NovelAMPD2mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities 121
GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features. 120
Two new mutations in the myophosphorylase gene in Italian patients with McArdle's disease. 120
WES in a family trio suggests involvement of TECPR2 in a complex form of progressive motor neuron disease 120
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome 120
Enhancement of Muscle T Regulatory Cells and Improvement of Muscular Dystrophic Process in mdx Mice by Blockade of Extracellular ATP/P2X Axis. 119
Hyccin, the Molecule Mutated in the Leukodystrophy Hypomyelination and Congenital Cataract (HCC), Is a Neuronal Protein. 119
A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy. 118
Detection of early nocturnal hypoventilation in neuromuscular disorders 118
Clinical and genetic characterization of Chanarin-Dorfman syndrome 117
Tubulopathy, endocrinopathies and encephalomyopathy in a child with a novel large-scale mitochondrial DNA deletion. 117
Dystrophin at the plasma membrane of human muscle fibers shows a costameric localization. 117
Characterization of MDPL Fibroblasts Carrying the Recurrent p.Ser605del Mutation in POLD1 Gene. 117
Motor-function-muscle strength relationship in spinal muscular atrophy. 116
Lesional reflex epilepsy associated with the thought of food. AUTHOR REPLY 116
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder. 116
Autosomal recessive epilepsy associated with contactin 2 mutation is different from familial cortical tremor, myoclonus and epilepsy. 116
International consensus on a proposed score system for muscle biopsy evaluation in patients with juvenile dermatomyositis: a tool for potential use in clinical trials 115
Ubiquitin expression in acute steroid myopathy with loss of myosin thick filaments. 115
Caveolinopathies: mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases 115
Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 Mutation 115
Phenotypic behavior of caveolin-3 (R26Q), a mutant associated with hyperCKemia, distal myopathy, and rippling muscle disease 114
Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations. 114
Very-long-chain acyl-coenzyme A dehydrogenase deficiency in a child with recurrent myoglobinuria. 114
Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. 114
Spinal motor neuron involvement in a patient with homozygous PRUNE mutation 114
Clinical Significance of Rare Copy Number Variations in Epilepsy: A Case-Control Survey Using Microarray-Based Comparative Genomic Hybridization. 114
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders 114
Dystrophinopathy in isolated cases of myopathy in females. 113
Transgenic overexpression of caveolin-3 in skeletal muscle fibers induces a Duchenne-like muscular dystrophy phenotype 113
Antiepileptic drugs under investigation for treatment of focal epilepsy 113
A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes 113
EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement. 113
Electroclinical and genetic findings in a family with cortical tremor, myoclonus, and epilepsy. 112
CEREBELLAR WHITE MATTER INVOLVEMENT IN SALLA DISEASE 112
Health-related quality of life and functional changes in DMD: A 12-month longitudinal cohort study 111
Multiplex real-time PCR for detection of deletions and duplications in dystrophin gene. 111
Refractory, life-threatening status epilepticus in a 3-year-old girl. 111
Caveolinopathies: from the biology of caveolin-3 to human diseases. 110
Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy. 110
Vaccination recommendations for patients with neuromuscular disease. 110
Interpreting Genetic Variants in Titin in Patients With Muscle Disorders 110
Early decrease of IIx myosin heavy chain transcripts in Duchenne muscular dystrophy. 109
Myoclonus in mitochondrial disorders. 109
Totale 12.484
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Categoria #
all - tutte 77.493
article - articoli 76.655
book - libri 263
conference - conferenze 411
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 164
Totale 154.986
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20206.581 0 0 0 478 645 797 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
2023/20241.421 95 222 32 164 141 275 86 67 88 15 84 152
2024/2025727 122 356 137 112 0 0 0 0 0 0 0 0
Totale 25.621