IRIS
BRUNO, CLAUDIO
 Distribuzione geografica
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Continente #
EU - Europa 12.178
Totale 12.178
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Nazione #
IT - Italia 12.178
Totale 12.178
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Città #
Genova 9.303
Rapallo 1.484
Genoa 1.359
Bordighera 32
Totale 12.178
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Nome #
Aquaporin-4 expression is severely reduced in human sarcoglycanopathies and dysferlinopathies. 152
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
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
Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency. 141
Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutations. 137
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV) 134
MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients 132
Inferior olivary nucleus involvement in pediatric neurodegenerative disorders: does it play a role in neuroimaging pattern-recognition approach? 130
A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy 129
Phenotypic characterization of hypomyelination and congenital cataract 129
Mitochondrial myopathy and respiratory failure associated with a mutation in the mitochondrial tRNA glutamic acid gene. 125
Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular Dystrophy. 125
Mitochondrial myopathy in a child with a muscle-restricted mutation in the mitochondrial transfer RNAAsn gene. 125
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
POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes. 122
Dopamine-agonist responsive Parkinsonism in a patient with the SANDO syndrome caused by POLG mutation. 120
The ubiquitin ligase tripartite-motif-protein 32 is induced in Duchenne muscular dystrophy 120
Mutations in GMPPB Presenting with Pseudometabolic Myopathy 120
Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract 120
Nusinersen versus sham control in infantile-onset spinal muscular atrophy 119
Two new mutations in the myophosphorylase gene in Italian patients with McArdle's disease. 118
A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiency. 117
Inflammatory myopathy in a patient with collagen VI mutations 117
Italian recommendations for diagnosis and management of congenital myasthenic syndromes 117
Tubulopathy, endocrinopathies and encephalomyopathy in a child with a novel large-scale mitochondrial DNA deletion. 115
Enhancement of Muscle T Regulatory Cells and Improvement of Muscular Dystrophic Process in mdx Mice by Blockade of Extracellular ATP/P2X Axis. 115
Clinical and genetic characterization of Chanarin-Dorfman syndrome 112
A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy. 112
Very-long-chain acyl-coenzyme A dehydrogenase deficiency in a child with recurrent myoglobinuria. 112
Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. 112
null 112
Detection of early nocturnal hypoventilation in neuromuscular disorders 111
Health-related quality of life and functional changes in DMD: A 12-month longitudinal cohort study 109
Vaccination recommendations for patients with neuromuscular disease. 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
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders 108
Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy. 107
Caveolinopathies: from the biology of caveolin-3 to human diseases. 107
Hypomyelination and Congenital Cataract: Neuroimaging Features of a Novel Inherited White Matter Disorder 106
Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: A multicentric longitudinal study using the Performance of Upper Limb test 106
Therapeutic potential of proteasome inhibition in Duchenne and Becker muscular dystrophies. 106
Isoprostanes in dystrophinopathy: Evidence of increased oxidative stress 105
Myoclonus in mitochondrial disorders. 105
Novel mutation in the CPT II gene in a child with periodic febrile myalgia and myoglobinuria. 104
The Hammersmith functional score correlates with the SMN2 copy number: A multicentric study. 103
Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression. 103
N1303K MUTATION AND DIABETES MELLITUS IN CYSTIC FIBROSIS. 103
Prevalence of congenital muscular dystrophy in Italy: a population study. 102
"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network 101
Tele-monitoring in paediatric and young home-ventilated neuromuscular patients: A multicentre case-control trial 101
Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitro. 101
Congenital myopathies: Clinical phenotypes and new diagnostic tools 101
Identification of novel WFS1 mutations in Italian children with Wolfram syndrome 100
The danger signal extracellular ATP is involved in the immunomediated damage of α-sarcoglycan deficient muscular dystrophy 100
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease 100
Clinical and molecular findings in patients with giant axonal neuropathy (GAN) 99
Congenital muscular dystrophies with defective glycosylation of dystroglycan. A population study. 98
Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation 98
Congenital muscular dystrophies with cognitive impairment. A population study. 98
Copy number variants account for a tiny fraction of undiagnosed myopathic patients 98
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. 98
Phenotypic heterogeneity in two unrelated Danon patients associated with the same LAMP2 gene mutation. 98
Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a multicentric study. 97
Familial isolated hyperCKemia associated with a new mutation in the caveolin-3 (CAV-3) gene 96
Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy. 96
Chemokine receptor CCR7 is expressed in muscle fibers in juvenile dermatomyositis 96
Peroxisomal acyl-CoA-oxidase deficiency: two new cases 96
Respiratory pattern in a FSDH paediatric population 96
Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean. 96
Forearm semi-ischemic exercise test in pediatric patients. 94
Caveolin-1(-/-)- and caveolin-2(-/-)-deficient mice both display numerous skeletal muscle abnormalities, with tubular aggregate formation. 94
Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder 94
The genetic basis of undiagnosed muscular dystrophies and myopathies 93
Redefining phenotypes associated with mitochondrial DNA single deletion. 92
The spectrum of GNE mutations: allelic heterogeneity for a common phenotype. 91
Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuria. 90
Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene. 89
The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender? 88
Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development. 88
Beyond spinal muscular atrophy with lower extremity dominance: Cerebellar hypoplasia associated with a novel mutation in BICD2 88
Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers 86
Duchenne muscular dystrophy and epilepsy. 85
Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia 84
Truncation of Caveolin-3 causes autosomal-recessive Rippling Muscle Disease 84
Revisiting mitochondrial ocular myopathies: a study from the Italian Network 84
Neuromuscular forms of glycogen branching enzyme deficiency. 83
Pharmacological rescue of the dystrophin-glycoprotein complex in Duchenne and Becker skeletal muscle explants by proteasome inhibitor treatment 83
Gene symbol: GNE. Disease: Inclusion body myopathy. 82
McArdle disease: the mutation spectrum of PYGM in a large Italian cohort 80
Congenital Myopathies 75
Centronuclear myopathies: genotype–phenotype correlation and frequency of defined genetic forms in an Italian cohort 75
Unusual white matter involvement in EAST syndrome associated with novel KCNJ10 mutations 75
Le malattie mitocondriali. Aggiornamento sugli aspetti biochimici e genetico-molecolari. 69
[Early myoclonic encephalopathy and spinal muscular atrophy type I]. 69
Identification of novel WFS1 mutations in Italian children with Wolfram Syndrome 68
Null mutations and lethal congenital form of glycogen storage disease type IV 67
Totale 10.485
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Categoria #
all - tutte 41.113
article - articoli 40.754
book - libri 153
conference - conferenze 206
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 82.226
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/2019311 0 0 0 0 0 0 0 0 0 0 0 311
2019/20203.514 159 113 142 213 292 362 629 312 329 524 325 114
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
2023/20241.164 63 121 76 169 92 217 86 43 56 29 75 137
Totale 12.485