IRIS
BRUNETTI PIERRI, NICOLA
 Distribuzione geografica
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Continente #
AS - Asia 7.337
NA - Nord America 5.059
EU - Europa 4.886
SA - Sud America 1.036
AF - Africa 178
OC - Oceania 23
Continente sconosciuto - Info sul continente non disponibili 9
Totale 18.528
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Nazione #
US - Stati Uniti d'America 4.804
SG - Singapore 4.163
RU - Federazione Russa 2.398
CN - Cina 1.405
IT - Italia 1.053
BR - Brasile 850
HK - Hong Kong 822
VN - Vietnam 430
DE - Germania 258
NL - Olanda 208
IE - Irlanda 201
FI - Finlandia 200
CA - Canada 151
GB - Regno Unito 141
IN - India 111
KR - Corea 105
UA - Ucraina 94
AR - Argentina 82
MX - Messico 70
FR - Francia 66
AT - Austria 62
ZA - Sudafrica 51
TR - Turchia 47
BD - Bangladesh 46
SE - Svezia 45
ID - Indonesia 40
JP - Giappone 38
PL - Polonia 37
EC - Ecuador 33
ES - Italia 32
CI - Costa d'Avorio 28
IQ - Iraq 22
MA - Marocco 21
CO - Colombia 16
IL - Israele 13
VE - Venezuela 13
CH - Svizzera 12
PE - Perù 12
PY - Paraguay 12
SA - Arabia Saudita 12
UZ - Uzbekistan 12
DZ - Algeria 11
EG - Egitto 11
BE - Belgio 10
LT - Lituania 10
PK - Pakistan 10
UY - Uruguay 10
AZ - Azerbaigian 9
CZ - Repubblica Ceca 9
NZ - Nuova Zelanda 9
AE - Emirati Arabi Uniti 8
AU - Australia 8
BG - Bulgaria 8
RO - Romania 8
TN - Tunisia 8
IR - Iran 7
XK - ???statistics.table.value.countryCode.XK??? 7
JO - Giordania 6
KE - Kenya 6
CL - Cile 5
RS - Serbia 5
CR - Costa Rica 4
HR - Croazia 4
LV - Lettonia 4
RE - Reunion 4
AL - Albania 3
BF - Burkina Faso 3
BZ - Belize 3
CG - Congo 3
ET - Etiopia 3
GT - Guatemala 3
HN - Honduras 3
JM - Giamaica 3
KZ - Kazakistan 3
LC - Santa Lucia 3
MD - Moldavia 3
NG - Nigeria 3
NO - Norvegia 3
PA - Panama 3
PS - Palestinian Territory 3
TH - Thailandia 3
TT - Trinidad e Tobago 3
AM - Armenia 2
BH - Bahrain 2
BO - Bolivia 2
BY - Bielorussia 2
DK - Danimarca 2
DO - Repubblica Dominicana 2
GA - Gabon 2
GM - Gambi 2
GR - Grecia 2
MO - Macao, regione amministrativa speciale della Cina 2
MY - Malesia 2
NC - Nuova Caledonia 2
NE - Niger 2
NP - Nepal 2
PT - Portogallo 2
SC - Seychelles 2
SV - El Salvador 2
TW - Taiwan 2
Totale 18.484
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Città #
Singapore 1.848
Hong Kong 807
Moscow 639
Chandler 547
Hefei 447
Ashburn 368
Beijing 320
Santa Clara 302
Millbury 282
Naples 211
Los Angeles 171
Princeton 160
Ho Chi Minh City 157
Amsterdam 124
Jacksonville 123
Nanjing 118
Redondo Beach 101
Boston 100
Buffalo 96
Wilmington 93
Ottawa 91
Des Moines 90
Seoul 88
Dallas 83
Hanoi 83
San Jose 71
São Paulo 71
Napoli 69
Lawrence 67
New York 65
The Dalles 64
Nuremberg 55
Rome 54
Seattle 53
Munich 46
Nanchang 42
Mexico City 37
Kronberg 36
Woodbridge 34
Rio de Janeiro 33
Hebei 30
Milan 30
Houston 28
Shenyang 28
Vienna 28
Warsaw 28
London 27
Orem 25
Tokyo 25
Chennai 24
Da Nang 24
Montreal 23
Stockholm 23
Chicago 22
Norwalk 22
Helsinki 21
Council Bluffs 20
Denver 20
Tianjin 20
Brasília 19
Frankfurt am Main 19
Haiphong 19
Pune 19
Boardman 18
Johannesburg 18
Lappeenranta 18
Biên Hòa 17
Changsha 17
Turku 17
Ann Arbor 16
Belo Horizonte 16
Brooklyn 16
Dublin 16
Falls Church 16
Guayaquil 16
Jiaxing 16
Caserta 15
Siena 15
Turin 15
Atlanta 14
Florence 14
Falkenstein 13
Istanbul 13
Ribeirão Preto 13
Toronto 13
Baghdad 12
Kochi 12
Manchester 12
Phoenix 12
Tashkent 12
Guangzhou 11
Dhaka 10
Hải Dương 10
Poplar 10
Quito 10
Recife 10
Reggio Emilia 10
Washington 10
Ankara 9
Baku 9
Totale 9.291
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Nome #
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition) 407
Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) 235
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature 210
Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: data from the Campania Rare Disease Registry 164
Characterization of liver involvement in defects of cholesterol biosynthesis: Long-term follow-up and review 129
Pyruvate dehydrogenase complex and lactate dehydrogenase are targets for therapy of acute liver failure 128
Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center 123
A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability 121
Episodi ricorrenti d rabdomiolisi secondari a difetto della beta-ossidazione degli acidi grassi. 119
Wilson disease protein ATP7B utilizes lysosomal exocytosis to maintain copper homeostasis 117
A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome. 117
A novel SHANK3 interstitial microdeletion in a family with intellectual disability and brain MRI abnormalities resembling Unidentified Bright Objects. 117
Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review 114
X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability 113
Late-onset mucopolysaccharidosis type IIIA mimicking Usher syndrome 112
Defective CFTR induces aggresome formation and lung inflammation in cystic fibrosis through ROS-mediated autophagy inhibition 111
Cavitating and tigroid-like leukoencephalopathy in a case of NDUFA2-related disorder 109
Cystic fibrosis: a disorder with defective autophagy 105
Dual diagnosis in a child with familial SCN8A-related encephalopathy complicated by a 1p13.2 deletion involving NRAS gene 105
Low-dose amitriptyline-induced acute dystonia in a patient with metachromatic leukodystrophy. 102
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications 101
Increased expression or activation of TRPML1 reduces hepatic storage of toxic Z alpha-1 antitrypsin 100
Intrafamilial variability in SPTAN1-related disorder: From benign convulsions with mild gastroenteritis to developmental encephalopathy 100
Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3b-hydroxysteroid-D5-desaturase 99
Pain and sleep disturbances in Rett syndrome and other neurodevelopmental disorders 98
Discovery of drug mode of action and drug repositioning from transcriptional responses 97
Erratum: Inappropriate tall stature and renal ectopy in a male patient with X-linked congenital adrenal hypoplasia due to a novel missense mutation in the DAX-1 gene (American Journal of Medical Genetics DOI: 10.1002/ajmg.a.30670) 96
Corrigendum to: Expanding the phenotype of DST -related disorder: A case report suggesting a genotype/phenotype correlation (American Journal of Medical Genetics Part A, (2017), 173, 10, (2743-2746), 10.1002/ajmg.a.38367) 96
Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome 94
Bioengineered Factor IX Molecules with Increased Catalytic Activity Improve the Therapeutic Index of Gene Therapy Vectors for Hemophilia B. 93
Nutrient-sensitive transcription factors TFEB and TFE3 couple autophagy and metabolism to the peripheral clock 93
Epigenetic Alterations in Inborn Errors of Immunity 93
Two cases of 16q12.1q21 deletions and refinement of the critical region 92
The evolving landscape of gene therapy for congenital haemophilia: An unprecedented, problematic but promising opportunity for worldwide clinical studies 91
Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant 91
Cystic fibrosis: A disorder with defective autophagy 90
Activation of JNK pathway aggravates proteotoxicity of hepatic mutant Z alpha1-antitrypsin 89
Copy number variants at Williams-Beuren syndrome 7q11.23 region. 87
Expanding the phenotype of DST-related disorder: A case report suggesting a genotype/phenotype correlation 87
New case of bilateral upper limb amelia, facial clefts, and renal hypoplasia 87
Liver-Directed Adeno-Associated Virus–Mediated Gene Therapy for Mucopolysaccharidosis Type VI 87
TOWARDS CLINICAL TRIALS FOR AAV-MEDIATED EYE- AND LIVER - DIRECT GENE THERAPY TRANSLATION AAV 86
Autophagy master regulator TFEB induces clearance of toxic SERPINA1/?-1-antitrypsin polymers. 86
Correction of hyperbilirubinemia in Gunn rats by surgical delivery of low doses of HDAd vectors. 86
Skin fibroblasts of patients with geleophysic dysplasia due to FBN1 mutations have lysosomal inclusions and losartan improves their microfibril deposition defect 86
Disease burden and management of Crigler-Najjar syndrome: Report of a world registry 85
Multi-year enzyme expression in patients with mucopolysaccharidosis type VI after liver-directed gene therapy 85
Progress toward improved therapies for inborn errors of metabolism 85
Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet 85
Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder 85
Inborn errors of metabolism: the flux from Mendelian to complex diseases. 84
A new case of bilateral upper limb amelia, facial clefts, and renal hypoplasia. 84
A novel mutation in the N-terminal region of the CYP17A1 gene in a patient with 17 alpha-hydroxylase/17,20-lyase deficiency. 84
Reply 83
Expansion of the phenotype of lateral meningocele syndrome 82
X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability 81
Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD. 81
Chromosomal 17p13.3 microdeletion unmasking recessive Canavan disease mutation 81
Current Status on Clinical Development of Adeno-Associated Virus-Mediated Liver-Directed Gene Therapy for Inborn Errors of Metabolism 81
Global metabolomic profiling unravels metabolite perturbations in Rett syndrome 81
Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability 81
Gene transfer of master autophagy regulator TFEB results in clearance of toxic protein and correction of hepatic disease in alpha-1- anti-trypsin deficiency. 80
Gene therapy for inherited diseases of liver metabolism. 79
Helper-dependent adenoviral vectors for liver-directed gene therapy of primary hyperoxaluria type 1 79
Beclin-1-mediated activation of autophagy improves proximal and distal urea cycle disorders 79
Biomarkers for gene therapy clinical trials of lysosomal storage disorders 78
Sustained Reduction of Hyperbilirubinemia in Gunn Rats after Adeno-Associated Virus-Mediated Gene Transfer of Bilirubin UDP-Glucuronosyltransferase Isozyme 1A1 to Skeletal Muscle. 78
TFEB gene therapy of alpha-1-antitrypsin deficiency” 78
O-GlcNAcylation enhances CPS1 catalytic efficiency for ammonia and promotes ureagenesis 77
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy 77
Precision medicine in action for Pompe disease 77
Enhancing Autophagy with Drugs or Lung-directed Gene Therapy Reverses the Pathological Effects of Respiratory Epithelial Cell Proteinopathy 77
De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia 76
New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency 76
Inappropriate tall stature and renal ectopy in a male patient with X-linked congenital adrenal hypoplasia due to a novel missense mutation in the DAX-1 gene. 75
VarGenius executes cohort-level DNA-seq variant calling and annotation and allows to manage the resulting data through a PostgreSQL database 75
Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region. 74
Enhancement of hepatic autophagy increases ureagenesis and protects against hyperammonemia 74
Cerebellar vermis aplasia: Patient report and exclusion of the candidate genes EN2 and ZIC1. 73
Progress towards liver and lung-directed gene therapy with helper-dependent adenoviral vectors. 73
Focal congenital lipoatrophy and vascular malformation: A mild form of inverse Klippel-Trenaunay syndrome? 73
Paralog Studies Augment Gene Discovery: DDX and DHX Genes 73
Prevalence and Relevance of Pre-Existing Anti-Adeno-Associated Virus Immunity in the Context of Gene Therapy for Crigler-Najjar Syndrome 73
von Voss-Cherstvoy syndrome with transient thrombocytopenia and normal psychomotor development. 72
Improved efficacy and reduced toxicity by ultrasound-guided intrahepatic injections of helper-dependent adenoviral vector in Gunn rats. 72
CHOP and c-JUN up-regulate the mutant Z α1-antitrypsin, exacerbating its aggregation and liver proteotoxicity 72
DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder 71
Toll-like Receptor 9 Triggers an Innate Immune Response to Helper-dependent Adenoviral Vectors. 71
Giant breast tumors in a patient with Beckwith-Wiedemann syndrome. 71
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders 70
Short-Term Correction of Arginase Deficiency in a Neonatal Murine Model with a Helper-Dependent Adenoviral Vector. 70
Ensuring continuity of care for children with inherited metabolic diseases at the time of COVID-19: the experience of a metabolic unit in Italy 70
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders 69
Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder 69
Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders 68
X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene 68
Vasoactive intestinal peptide increases hepatic transduction and reduces innate immune response following administration of helper-dependent Ad. 68
gene therapy of human inherited diseases 68
Chondrodysplasia Punctata 1, X-linked Recessive 68
30-year follow-up of a patient with classic citrullinemia. 67
Totale 9.349
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Categoria #
all - tutte 66.621
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 66.621
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021135 0 0 0 0 0 0 37 8 28 7 48 7
2021/20221.080 13 6 8 11 20 16 17 41 197 66 147 538
2022/20231.452 246 76 50 105 183 167 27 156 213 119 87 23
2023/20241.117 53 156 97 71 54 104 60 101 23 50 214 134
2024/20256.423 414 564 40 53 125 297 730 403 662 718 1.863 554
2025/20267.339 1.344 1.074 1.213 1.173 1.901 534 100 0 0 0 0 0
Totale 18.853