IRIS
BRUNO, CLAUDIO
 Distribuzione geografica
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Continente #
EU - Europa 15.722
Totale 15.722
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Nazione #
IT - Italia 15.722
Totale 15.722
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Città #
Genova 9.303
Genoa 3.522
Rapallo 1.484
Vado Ligure 1.381
Bordighera 32
Totale 15.722
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Nome #
Aquaporin-4 expression is severely reduced in human sarcoglycanopathies and dysferlinopathies. 180
Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency. 170
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders 167
Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy 165
Respiratory pattern in a FSHD pediatric population 163
Impairment of caveolae formation and T-system disorganization in human muscular dystrophy with caveolin-3 deficiency 157
A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy 156
Clinical and molecular consequences of exon 78 deletion in DMD gene 155
Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular Dystrophy. 154
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV) 153
Mutations in GMPPB Presenting with Pseudometabolic Myopathy 152
Nusinersen versus sham control in infantile-onset spinal muscular atrophy 152
Progressive exercise intolerance associated with a new muscle-restricted nonsense mutation (G142X) in the mitochondrial cytochrome b gene 151
The ubiquitin ligase tripartite-motif-protein 32 is induced in Duchenne muscular dystrophy 151
MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients 151
Inferior olivary nucleus involvement in pediatric neurodegenerative disorders: does it play a role in neuroimaging pattern-recognition approach? 150
Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutations. 149
A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiency. 148
Inflammatory myopathy in a patient with collagen VI mutations 143
Phenotypic characterization of hypomyelination and congenital cataract 140
Italian recommendations for diagnosis and management of congenital myasthenic syndromes 138
Mitochondrial myopathy in a child with a muscle-restricted mutation in the mitochondrial transfer RNAAsn gene. 138
Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract 137
Mitochondrial myopathy and respiratory failure associated with a mutation in the mitochondrial tRNA glutamic acid gene. 136
Mitochondrial DNA deletion in a child with mitochondrial encephalomyopathy, growth hormone deficiency and hypo-parathyroidism 135
Dopamine-agonist responsive Parkinsonism in a patient with the SANDO syndrome caused by POLG mutation. 135
Enhancement of Muscle T Regulatory Cells and Improvement of Muscular Dystrophic Process in mdx Mice by Blockade of Extracellular ATP/P2X Axis. 135
Clinical and genetic characterization of Chanarin-Dorfman syndrome 131
Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: A multicentric longitudinal study using the Performance of Upper Limb test 130
POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes. 130
Detection of early nocturnal hypoventilation in neuromuscular disorders 130
A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy. 129
Tubulopathy, endocrinopathies and encephalomyopathy in a child with a novel large-scale mitochondrial DNA deletion. 129
Two new mutations in the myophosphorylase gene in Italian patients with McArdle's disease. 127
Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. 126
"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network 126
Health-related quality of life and functional changes in DMD: A 12-month longitudinal cohort study 125
Interpreting Genetic Variants in Titin in Patients With Muscle Disorders 122
Therapeutic potential of proteasome inhibition in Duchenne and Becker muscular dystrophies. 122
Caveolinopathies: from the biology of caveolin-3 to human diseases. 121
Very-long-chain acyl-coenzyme A dehydrogenase deficiency in a child with recurrent myoglobinuria. 121
Myoclonus in mitochondrial disorders. 121
Multiplex real-time PCR for detection of deletions and duplications in dystrophin gene. 121
Vaccination recommendations for patients with neuromuscular disease. 119
Tele-monitoring in paediatric and young home-ventilated neuromuscular patients: A multicentre case-control trial 119
The danger signal extracellular ATP is involved in the immunomediated damage of α-sarcoglycan deficient muscular dystrophy 119
Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy. 118
Beyond spinal muscular atrophy with lower extremity dominance: Cerebellar hypoplasia associated with a novel mutation in BICD2 118
Novel mutation in the CPT II gene in a child with periodic febrile myalgia and myoglobinuria. 117
Hypomyelination and Congenital Cataract: Neuroimaging Features of a Novel Inherited White Matter Disorder 116
N1303K MUTATION AND DIABETES MELLITUS IN CYSTIC FIBROSIS. 116
Muscle MRI in neutral lipid storage disease (NLSD) 116
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. 116
The Hammersmith functional score correlates with the SMN2 copy number: A multicentric study. 115
Respiratory pattern in a FSDH paediatric population 115
Prevalence of congenital muscular dystrophy in Italy: a population study. 114
Congenital myopathies: Clinical phenotypes and new diagnostic tools 114
Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression. 112
null 112
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease 112
Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder 112
Isoprostanes in dystrophinopathy: Evidence of increased oxidative stress 111
Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy. 111
Clinical and molecular findings in patients with giant axonal neuropathy (GAN) 110
Peroxisomal acyl-CoA-oxidase deficiency: two new cases 110
Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitro. 110
The genetic basis of undiagnosed muscular dystrophies and myopathies 110
Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a multicentric study. 109
Identification of novel WFS1 mutations in Italian children with Wolfram syndrome 109
Chemokine receptor CCR7 is expressed in muscle fibers in juvenile dermatomyositis 109
Copy number variants account for a tiny fraction of undiagnosed myopathic patients 109
Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation 108
Congenital muscular dystrophies with defective glycosylation of dystroglycan. A population study. 107
Congenital muscular dystrophies with cognitive impairment. A population study. 107
Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean. 107
Phenotypic heterogeneity in two unrelated Danon patients associated with the same LAMP2 gene mutation. 107
Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development. 106
Redefining phenotypes associated with mitochondrial DNA single deletion. 106
Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers 106
Revisiting mitochondrial ocular myopathies: a study from the Italian Network 106
Caveolin-1(-/-)- and caveolin-2(-/-)-deficient mice both display numerous skeletal muscle abnormalities, with tubular aggregate formation. 105
Familial isolated hyperCKemia associated with a new mutation in the caveolin-3 (CAV-3) gene 104
The spectrum of GNE mutations: allelic heterogeneity for a common phenotype. 104
Forearm semi-ischemic exercise test in pediatric patients. 102
Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuria. 101
Centronuclear myopathies: genotype–phenotype correlation and frequency of defined genetic forms in an Italian cohort 101
Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene. 99
Pharmacological rescue of the dystrophin-glycoprotein complex in Duchenne and Becker skeletal muscle explants by proteasome inhibitor treatment 98
Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia 97
[Early myoclonic encephalopathy and spinal muscular atrophy type I]. 97
Gene symbol: GNE. Disease: Inclusion body myopathy. 97
The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender? 96
Truncation of Caveolin-3 causes autosomal-recessive Rippling Muscle Disease 95
Duchenne muscular dystrophy and epilepsy. 92
Neuromuscular forms of glycogen branching enzyme deficiency. 91
Null mutations and lethal congenital form of glycogen storage disease type IV 91
McArdle disease: the mutation spectrum of PYGM in a large Italian cohort 91
Unusual white matter involvement in EAST syndrome associated with novel KCNJ10 mutations 90
Congenital Myopathies 89
Identification of novel WFS1 mutations in Italian children with Wolfram Syndrome 89
Totale 12.139
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Categoria #
all - tutte 58.722
article - articoli 58.188
book - libri 228
conference - conferenze 306
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 117.444
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020114 0 0 0 0 0 0 0 0 0 0 0 114
2020/20211.138 69 76 89 146 64 104 76 127 78 121 95 93
2021/20221.627 58 72 146 153 42 86 107 386 81 139 103 254
2022/20231.789 179 158 19 188 253 310 14 124 332 11 188 13
2023/20241.166 63 121 76 169 92 217 86 43 56 29 75 139
2024/20253.561 115 282 119 226 407 398 334 553 147 201 409 370
Totale 16.048