IRIS
PILUSO, Giulio
 Distribuzione geografica
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Continente #
EU - Europa 2.505
NA - Nord America 2.304
AS - Asia 240
Continente sconosciuto - Info sul continente non disponibili 7
SA - Sud America 4
AF - Africa 1
OC - Oceania 1
Totale 5.062
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Nazione #
US - Stati Uniti d'America 2.299
IE - Irlanda 940
UA - Ucraina 341
IT - Italia 337
GB - Regno Unito 292
DE - Germania 206
CN - Cina 140
FR - Francia 120
FI - Finlandia 95
SE - Svezia 74
GR - Grecia 56
TR - Turchia 50
BE - Belgio 20
VN - Vietnam 12
IN - India 8
EU - Europa 7
KR - Corea 7
PK - Pakistan 7
NL - Olanda 6
CA - Canada 4
ES - Italia 4
HK - Hong Kong 4
PL - Polonia 4
ID - Indonesia 3
SG - Singapore 3
BR - Brasile 2
CZ - Repubblica Ceca 2
JP - Giappone 2
RU - Federazione Russa 2
SA - Arabia Saudita 2
AL - Albania 1
AR - Argentina 1
AT - Austria 1
AU - Australia 1
CL - Cile 1
EG - Egitto 1
HU - Ungheria 1
IM - Isola di Man 1
KZ - Kazakistan 1
MX - Messico 1
NO - Norvegia 1
PH - Filippine 1
RS - Serbia 1
Totale 5.062
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Città #
Dublin 939
Jacksonville 529
Chandler 495
Princeton 115
Caserta 97
Ann Arbor 89
Bremen 86
Medford 86
Roxbury 80
Woodbridge 63
Wilmington 54
Boardman 51
Cambridge 42
San Mateo 38
Beijing 30
Naples 30
New York 27
Des Moines 25
Mountain View 22
Ashburn 21
Napoli 21
Düsseldorf 19
Brussels 18
Nanjing 18
Auburn Hills 14
Shenyang 14
Dong Ket 12
Norwalk 11
Helsinki 10
Redwood City 10
Jinan 9
Ariano Irpino 8
Lappeenranta 8
Los Angeles 8
Nanchang 8
Rome 8
Falls Church 7
Houston 7
Ercolano 6
Haikou 6
Hebei 6
Ningbo 6
Milan 5
Scafati 5
Tianjin 5
Hangzhou 4
Lanzhou 4
Pune 4
San Felice A Cancello 4
Taiyuan 4
Trieste 4
Zhengzhou 4
Agropoli 3
Bellmawr 3
Catania 3
King's Lynn 3
Munich 3
Pignataro Maggiore 3
Pozzuoli 3
Seattle 3
Shanghai 3
Taizhou 3
Valenzano 3
Afragola 2
Amsterdam 2
Andover 2
Arzano 2
Aversa 2
Bandung 2
Casavatore 2
Casoria 2
Castelfranco Emilia 2
Centrale 2
Ceprano 2
Changsha 2
Columbus 2
Delhi 2
Eboli 2
Fairfield 2
Fucecchio 2
Genoa 2
Giugliano in Campania 2
Grafing 2
Groningen 2
Guangzhou 2
Hong Kong 2
Kocaeli 2
Kunming 2
London 2
Marigliano 2
Mcallen 2
Oxford 2
Pago del Vallo di Lauro 2
Palermo 2
Palma Campania 2
Polska 2
Riyadh 2
Sant'Anastasia 2
St Petersburg 2
Stockholm 2
Totale 3.303
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Nome #
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes 80
Worsening of cardiomyopathy using deflazacort in an animal model rescued by gene therapy 71
LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies. 70
Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis 70
Identification and characterization of a novel member of the dystrobrevin gene family 69
Novel mutations in LMNA A/C gene and associated phenotypes 69
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders 68
Giant thrombosed intracavernous carotid artery aneurysm presenting as Tolosa–Hunt syndrome in a patient harboring a new pathogenic neurofibromatosis type 1 mutation: a case report and review of the literature. 64
Reliable resequencing of the human dystrophin locus by universal long polymerase chain reaction and massive pyrosequencing 63
Multiple heterozygosity for different muscle genes is not rare among individuals with pauci-symptomatic hyperCKemia 63
A Missense Mutation in CASK Causes FG Syndrome in an Italian Family. 62
Combined deficiency of alpha and epsilon sarcoglycan disrupts the cardiac dystrophin complex. 62
SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: definition of a small C-terminal region required for emerin function 62
Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene 62
Enhancer chip: detecting human copy number variations in regulatory elements. 62
Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein 61
Le Distrofie dei Cingoli autosomiche recessive: calpainopatie e disferlinopatie 60
Identification of the Syrian hamster cardiomyopathy gene 59
UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism 59
Studio retrospettivo sulle complicanze emato-oncologiche nella neurofibromatosi tipo 1 in età pediatrica 58
Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1 58
Candidate-gene testing for orphan limb-girdle muscular dystrophies 57
The fourth component of the sarcoglycan complex 57
Seizures in children with neurofibromatosis type 1: Is neurofibromatosis type 1 enough? 57
Interaction of vault particles with estrogen receptor in the MCF-7 breast cancer cell 56
Dystrophin gene scanning by DHPLC of DMD carriers without deletions or duplications 55
A novel diagnostic method to detect truncated neurofibromin in Neurofibromatosis 1 55
The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients. 55
Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1 55
Molecular and Muscle Pathology in a series of Caveolinopathy patients 54
Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers 54
Multiple spinal nerve enlargement and SOS1 mutation: further evidence of overlap between Neurofibromatosis type 1 and Noonan phenotype 53
Moyamoya syndrome in children with neurofibromatosis type 1: Italian-French experience 53
Next generation sequencing applications are ready for genetic diagnosis of muscular dystrophies. 52
G.O.7 Multiple genetic variations in limb-girdle muscular dystrophies 52
Double carrier status in CANP3 and beta-sarcoglycan genes results in a mild disease phenotype 51
Identification of a DNA binding protein cooperating with estrogen receptor as RIZ (retinoblastoma interacting zinc finger protein) 50
INTERACTION OF ESTROGEN RECEPTOR α WITH THE RETINOBLASTOMA-INTERACTING-ZING-FINGER GENE PRODUCT RIZ 50
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276 and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1 50
Gamma1- and gamma2-syntrophins, two novel dystrophin-binding proteins localized in neuronal cells 49
Gene redundancies in the dystrophin-associated protein complex 48
Le conseil genetique dans les dystrophies musculaires: resultats de 10 ans d'approche moleculaire 48
Heart involvement in Emery-Dreifuss muscular dystrophies: new parameters to detect early atrial fibrosis and vulnerability 48
Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation 48
An Italian case of hereditary myopathy with early respiratory failure (HMERF) not associated with the titin kinase domain R279W mutation 47
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease 47
The retinoblastoma-interacting zinc-finger protein RIZ is a downstream effector of estrogen action 45
Gentamicin administration in Duchenne patients with premature stop codon. Preliminary results 45
Analysis of caveolin-3 (CAV-3) gene in patients with limb-girdle muscular dystrophies and/or isolated hyperCKemia 45
O.17 Mutation spectrum of limb-girdle muscular dystrophies by New Generation Sequencing approaches 45
Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients 45
A novel MEIS2 mutation explains the complex phenotype in a boy with a typical NF1 microdeletion syndrome 45
Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia 44
One Hundred Twenty-One Dystrophin Point Mutations Detected from Stored DNA Samples by Combinatorial Denaturing High-Performance Liquid Chromatography. 43
Different phenotypic expression in three related families with limb-girdle muscular dystrophy (LGMD2I) due to mutations in fukutin-related-protein gene 43
Aspetti clinici, genetici ed epidemiologici delleDistrofie muscolari dei Cingoli nel Sud Italia 43
P3.14 New AAVs for the muscle gene therapy in sarcoglycan deficient animals 43
A Novel 12q13.2-q13.3 Microdeletion Syndrome With Combined Features of Diamond Blackfan Anemia, Pierre Robin Sequence and Klippel Feil Deformity 43
Assessment of de novo copy-number variations in Italian patients with schizophrenia: Detection of putative mutations involving regulatory enhancer elements 43
Dilated cardiomyopathy caused by mutations in Calpain-3 gene 42
Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F 42
Identification of an intragenic deletion in the SGCB gene through a re-evaluation of negative next generation sequencing results 42
P2.27 Full exome resequencing by next generation sequencing (NGS) combined with chip analysis for the genetic testing of unclassified myopathic patients 42
Spectrum of muscular dystrophies associated with sarcolemmal-protein genetic defects 41
Dilated cardiomyopathy associated with mutations in delta-sarcoglycan gene. Report of two familial cases. 41
Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families 41
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype 41
Molecular diagnosis in LGMD2A: Mutation analysis or protein testing? 40
Next generation sequencing (NGS) strategies for the genetic testing of myopathies 40
Familial Trisomy 6p in Mother and Daughter 40
Use of a lower dosage liver-Detargeted AAV vector to prevent hamster muscular dystrophy. 40
P.P.6 02 Cardiac and respiratory involvement in autosomal recessive limb-girdle muscular dystrophies 40
Enhancing cyst-like lesions of the white matter in tuberous sclerosis complex: a novel neuroradiological finding 40
Motor Chip: a Comparative Genomic Hybridization Microarray for Copy-Number Mutations in 245 Neuromuscular Disorders 39
T.O. 6 Systemic delta-sarcoglycan gene transfer into cardiomyopathic BIO14.6 hamsters by AAV 39
Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions 39
Limb girdle muscular dystrophies: update on genetic diagnosis and therapeutic approaches 38
A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report 38
Expanding the Neuroradiological Phenotype of 18q Deletion Syndrome. 38
Clinical, molecular and genetic features of calpainopathy in Slovenia 37
A novel SHANK3 interstitial microdeletion in a family with intellectual disability and brain MRI abnormalities resembling Unidentified Bright Objects 37
The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene 37
Intermittent macrothrombocytopenia in a novel patient with Takenouchi-Kosaki syndrome and review of literature. 37
Improvement of survival in Duchenne Muscular Dystrophy: retrospective analysis of 835 patients 36
Log-PCR: a new tool for immediate and cost-effective diagnosis of up to 85% of dystrophin gene mutations 36
Mendelian bases of myopathies, cardiomyopathies, and neuromyopathies 36
Identification of candidate genes for limb-girdle muscular dystrophies: the yeast two hybrid approach 36
Identification of a functional estrogen-responsive enhancer element in the promoter 2 of PRDM2 gene in breast cancer cell lines 36
G.P.4.03 Mutations in the lamin A/C gene: An emergent cause of fatal arrhythmias in congenital muscular dystrophies 36
Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations 35
G.P.10.11 T-CAP, the gene responsible for LGMD2G, may interact with dysferlin 35
Linked-Read Whole Genome Sequencing Solves a Double DMD Gene Rearrangement 35
Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings 35
Identification and analysis of candidate genes for Limb-Girdle Muscular Dystrophies 34
Le Distrofie muscolari dei Cingoli autosomiche recessive in Sud Italia: Aspetti clinici, genetici ed epidemiologici 34
Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint (European Journal of Human Genetics, (2021), 29, 9, (1332-1336), 10.1038/s41431-021-00901-1) 33
Genetic heterogeneity of FG syndrome: a fourth locus (FGS4) maps to Xp11.4-p11.3 in an Italian family 32
The loss of interaction between TRIM32 and ubiquitination machinery is involved in limb-girdle muscular dystrophy 2H 32
Non invasive assessment of atrial fibrosis in Emery-Dreifuss muscular dystrophy patients by acoustic densitometry 32
Molecular analysis of sarcoglycan genes in LGMD patients recruited using different methods 31
Totale 4.760
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Categoria #
all - tutte 20.469
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 20.469
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/201914 0 0 0 0 0 0 0 0 0 0 5 9
2019/2020661 138 114 28 47 95 15 108 24 29 12 37 14
2020/2021769 59 2 90 65 126 8 104 87 20 95 76 37
2021/2022786 47 7 16 16 241 15 26 22 22 91 65 218
2022/20231.837 139 65 21 164 201 133 14 104 897 19 38 42
2023/2024479 55 28 42 53 216 39 21 11 4 9 1 0
Totale 5.366