IRIS
MINETTI, CARLO
 Distribuzione geografica
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Continente #
EU - Europa 25.954
Totale 25.954
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Nazione #
IT - Italia 25.954
Totale 25.954
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Città #
Genova 20.048
Rapallo 2.539
Genoa 1.974
Vado Ligure 1.347
Bordighera 46
Totale 25.954
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Nome #
A novel SCN2A mutation in family with benign familial infantile seizures. 169
Aquaporin-4 expression is severely reduced in human sarcoglycanopathies and dysferlinopathies. 159
Dramatic response to levetiracetam in post-ischaemic Holmes' tremor. 157
Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy 152
Lumping encephalopathies with inflammation-mediated status epilepticus: is there enough evidence? 151
Impairment of caveolae formation and T-system disorganization in human muscular dystrophy with caveolin-3 deficiency 150
Respiratory pattern in a FSHD pediatric population 150
Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency. 148
Natural history and long-term evolution in families with autosomal dominant cortical tremor, myoclonus, and epilepsy. 145
Progressive exercise intolerance associated with a new muscle-restricted nonsense mutation (G142X) in the mitochondrial cytochrome b gene 143
Galloway-Mowat syndrome: an early-onset progressive encephalopathy with intractable epilepsy associated to renal impairment. Two novel cases and review of literature. 142
Willful modulation of brain activity in disorders of consciousness. 141
Autoantibodies to glutamic acid decarboxylase (GAD) in focal and generalized epilepsy: A study on 233 patients. 141
Epilepsy: old drugs do the trick in childhood absence epilepsy. 140
MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients 140
Dramatic response to levetiracetam in post-ischaemic Holmes' tremor. 140
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV) 139
Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy. 139
Early-onset absence epilepsy: SLC2A1 gene analysis and treatment evolution. 139
A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy 138
Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy 138
Linkage analysis and disease models in benign familial infantile seizures: a study of 16 families. 137
Somatic and germline mosaicisms in Severe Myoclonic Epilepsy of Infancy 135
Epileptic seizures can follow high doses of oral vardenafil. 135
Familial nonkinesigenic paroxysmal dyskinesia and intracranial calcifications: a new syndrome? 135
'Autoimmune epilepsy' or exasperated search for the etiology of seizures of unknown origin? 134
Mutations in GMPPB Presenting with Pseudometabolic Myopathy 134
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders 134
Caveolin-1-Deficient Mice Have An Increased Mammary Stem Cell Population, with Upregulation of Wnt / ?-Catenin Signaling 133
Temporal lobe abnormalities on brain MRI in healthy volunteers: a prospective case-control study. 133
A clinical and genetic study of 33 new cases with early-onset absence epilepsy. 133
The ubiquitin ligase tripartite-motif-protein 32 is induced in Duchenne muscular dystrophy 133
Phenotypic characterization of hypomyelination and congenital cataract 132
Clinical and molecular consequences of exon 78 deletion in DMD gene 132
Benign adult familial myoclonic epilepsy (BAFME): evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian families. 132
Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular Dystrophy. 132
Hypomyelination and congenital cataract: Identification of novel mutations in two unrelated families. 131
A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiency. 131
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy 131
Evaluation of presumably disease causing SCN1A variants in a cohort of common epilepsy syndromes 131
Genetic testing in benign familial epilepsies of the first year of life: Clinical and diagnostic significance. 131
A proof-of-concept trial of the whey protein alfa-lactalbumin in chronic cortical myoclonus. 130
White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1. 129
Inherited neuromyotonia: a clinical and genetic study of a family. 129
Mitochondrial DNA deletion in a child with mitochondrial encephalomyopathy, growth hormone deficiency and hypo-parathyroidism 128
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 128
Disruption of muscle basal lamina in congenital muscular dystrophy with merosin deficiency. 128
Mitochondrial myopathy in a child with a muscle-restricted mutation in the mitochondrial transfer RNAAsn gene. 128
Inflammatory myopathy in a patient with collagen VI mutations 127
Mitochondrial myopathy and respiratory failure associated with a mutation in the mitochondrial tRNA glutamic acid gene. 126
Cerebellar atrophy without cerebellar cortex hyperintensity in infantile neuroaxonal dystrophy (INAD) due to PLA2G6 mutation. 126
GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features. 126
The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane. 126
WES in a family trio suggests involvement of TECPR2 in a complex form of progressive motor neuron disease 126
NovelAMPD2mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities 126
POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes. 126
Familial benign nonprogressive myoclonic epilepsies. 124
Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract 124
Hyccin, the Molecule Mutated in the Leukodystrophy Hypomyelination and Congenital Cataract (HCC), Is a Neuronal Protein. 124
Muscular dystrophies: alterations in a limited number of cellular pathways? 123
Dystrophin deficiency in young girls with sporadic myopathy and normal karyotype. 123
Enhancement of Muscle T Regulatory Cells and Improvement of Muscular Dystrophic Process in mdx Mice by Blockade of Extracellular ATP/P2X Axis. 123
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome 123
Clinical and genetic characterization of Chanarin-Dorfman syndrome 121
Two new mutations in the myophosphorylase gene in Italian patients with McArdle's disease. 121
Detection of early nocturnal hypoventilation in neuromuscular disorders 120
A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy. 119
Ubiquitin expression in acute steroid myopathy with loss of myosin thick filaments. 119
Dystrophin at the plasma membrane of human muscle fibers shows a costameric localization. 119
Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 Mutation 119
EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement. 119
Characterization of MDPL Fibroblasts Carrying the Recurrent p.Ser605del Mutation in POLD1 Gene. 119
Lesional reflex epilepsy associated with the thought of food. AUTHOR REPLY 118
Tubulopathy, endocrinopathies and encephalomyopathy in a child with a novel large-scale mitochondrial DNA deletion. 118
Autosomal recessive epilepsy associated with contactin 2 mutation is different from familial cortical tremor, myoclonus and epilepsy. 118
Motor-function-muscle strength relationship in spinal muscular atrophy. 117
International consensus on a proposed score system for muscle biopsy evaluation in patients with juvenile dermatomyositis: a tool for potential use in clinical trials 117
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder. 117
Clinical Significance of Rare Copy Number Variations in Epilepsy: A Case-Control Survey Using Microarray-Based Comparative Genomic Hybridization. 117
Very-long-chain acyl-coenzyme A dehydrogenase deficiency in a child with recurrent myoglobinuria. 116
Spinal motor neuron involvement in a patient with homozygous PRUNE mutation 116
A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes 116
CEREBELLAR WHITE MATTER INVOLVEMENT IN SALLA DISEASE 116
Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations. 115
Caveolinopathies: mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases 115
Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. 115
Antiepileptic drugs under investigation for treatment of focal epilepsy 115
Phenotypic behavior of caveolin-3 (R26Q), a mutant associated with hyperCKemia, distal myopathy, and rippling muscle disease 114
Electroclinical and genetic findings in a family with cortical tremor, myoclonus, and epilepsy. 114
Dystrophinopathy in isolated cases of myopathy in females. 114
Transgenic overexpression of caveolin-3 in skeletal muscle fibers induces a Duchenne-like muscular dystrophy phenotype 114
Severe dystrophinopathy in a patient with congenital hypotonia. 114
Mosaic expression of dystrophin in carriers of Becker's muscular dystrophy and the X-linked syndrome of myalgia and cramps. 113
Vaccination recommendations for patients with neuromuscular disease. 113
Myoclonus in mitochondrial disorders. 113
Health-related quality of life and functional changes in DMD: A 12-month longitudinal cohort study 113
Multiplex real-time PCR for detection of deletions and duplications in dystrophin gene. 113
Refractory, life-threatening status epilepticus in a 3-year-old girl. 113
Interpreting Genetic Variants in Titin in Patients With Muscle Disorders 112
Caveolinopathies: from the biology of caveolin-3 to human diseases. 111
Totale 12.786
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Categoria #
all - tutte 80.441
article - articoli 79.567
book - libri 272
conference - conferenze 429
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 173
Totale 160.882
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20206.103 0 0 0 0 645 797 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
2024/20251.429 122 356 137 271 543 0 0 0 0 0 0 0
Totale 26.323