IRIS
BRUNETTI PIERRI, NICOLA
 Distribuzione geografica
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Continente #
AS - Asia 9.533
NA - Nord America 8.398
EU - Europa 5.607
SA - Sud America 1.151
Continente sconosciuto - Info sul continente non disponibili 342
AF - Africa 217
OC - Oceania 29
Totale 25.277
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Nazione #
US - Stati Uniti d'America 7.989
SG - Singapore 4.439
RU - Federazione Russa 2.400
CN - Cina 1.733
IT - Italia 1.351
VN - Vietnam 1.325
BR - Brasile 904
HK - Hong Kong 889
FR - Francia 356
DE - Germania 291
NL - Olanda 235
BD - Bangladesh 225
CA - Canada 224
IE - Irlanda 205
FI - Finlandia 202
IN - India 180
JP - Giappone 169
GB - Regno Unito 164
KR - Corea 134
UA - Ucraina 100
AR - Argentina 96
MX - Messico 85
AT - Austria 65
ZA - Sudafrica 61
TR - Turchia 58
ID - Indonesia 54
PH - Filippine 47
IQ - Iraq 46
SE - Svezia 45
ES - Italia 43
EC - Ecuador 40
PL - Polonia 39
TH - Thailandia 38
CO - Colombia 33
PK - Pakistan 32
CI - Costa d'Avorio 28
MA - Marocco 24
VE - Venezuela 23
JM - Giamaica 22
JO - Giordania 19
CR - Costa Rica 18
SA - Arabia Saudita 18
CH - Svizzera 16
DZ - Algeria 16
EG - Egitto 16
TW - Taiwan 16
IL - Israele 15
PY - Paraguay 15
TN - Tunisia 15
UZ - Uzbekistan 15
AU - Australia 14
AZ - Azerbaigian 14
PE - Perù 13
CL - Cile 11
BE - Belgio 10
CZ - Repubblica Ceca 10
LT - Lituania 10
UY - Uruguay 10
AE - Emirati Arabi Uniti 9
BG - Bulgaria 9
MY - Malesia 9
NZ - Nuova Zelanda 9
GT - Guatemala 8
KE - Kenya 8
RO - Romania 8
IR - Iran 7
SV - El Salvador 7
XK - ???statistics.table.value.countryCode.XK??? 7
KZ - Kazakistan 6
TT - Trinidad e Tobago 6
BB - Barbados 5
ET - Etiopia 5
HN - Honduras 5
HR - Croazia 5
LV - Lettonia 5
NG - Nigeria 5
OM - Oman 5
PR - Porto Rico 5
RS - Serbia 5
AL - Albania 4
BO - Bolivia 4
DO - Repubblica Dominicana 4
GE - Georgia 4
MD - Moldavia 4
NO - Norvegia 4
NP - Nepal 4
PA - Panama 4
PT - Portogallo 4
RE - Reunion 4
AM - Armenia 3
BF - Burkina Faso 3
BY - Bielorussia 3
BZ - Belize 3
CG - Congo 3
LC - Santa Lucia 3
NI - Nicaragua 3
PS - Palestinian Territory 3
AG - Antigua e Barbuda 2
BA - Bosnia-Erzegovina 2
BH - Bahrain 2
Totale 24.873
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Città #
Singapore 2.070
San Jose 1.525
Hong Kong 856
Moscow 639
Ashburn 623
Chandler 547
Hefei 447
Ho Chi Minh City 407
Beijing 368
Santa Clara 351
Hanoi 289
Millbury 282
Lauterbourg 256
Naples 254
The Dalles 249
Council Bluffs 230
Los Angeles 211
Princeton 160
Tokyo 138
Phoenix 133
Amsterdam 131
Jacksonville 129
New York 128
Nanjing 118
Dallas 114
Buffalo 109
Boston 104
Redondo Beach 101
Wilmington 96
Des Moines 94
Ottawa 92
Seoul 92
São Paulo 85
Da Nang 79
Napoli 69
Rome 69
Lawrence 67
Nuremberg 57
Seattle 56
Haiphong 53
Milan 53
Orem 51
Frankfurt am Main 49
Munich 46
Nanchang 42
Mexico City 41
Woodbridge 38
Chennai 37
Houston 37
Kronberg 36
Montreal 36
London 35
Rio de Janeiro 34
Chicago 33
Vienna 31
Hebei 30
Warsaw 29
Denver 28
Shenyang 28
Brooklyn 27
Toronto 26
Biên Hòa 24
Johannesburg 24
Norwalk 23
Stockholm 23
Helsinki 22
Hải Dương 22
Tianjin 22
Baghdad 21
Dublin 21
Pune 21
Atlanta 20
Boardman 20
Florence 20
Guayaquil 20
Brasília 19
Turin 19
Lappeenranta 18
Manchester 18
Can Tho 17
Changsha 17
San Francisco 17
Turku 17
Amman 16
Ann Arbor 16
Belo Horizonte 16
Falls Church 16
Istanbul 16
Jiaxing 16
Reggio Emilia 16
Washington 16
Caserta 15
Shanghai 15
Siena 15
Tashkent 15
Bangkok 14
Bologna 14
Paris 14
Philadelphia 14
Ribeirão Preto 14
Totale 13.348
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Nome #
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition) 677
Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) 289
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature 244
Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: data from the Campania Rare Disease Registry 231
Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center 190
Characterization of liver involvement in defects of cholesterol biosynthesis: Long-term follow-up and review 159
Defective CFTR induces aggresome formation and lung inflammation in cystic fibrosis through ROS-mediated autophagy inhibition 157
Pyruvate dehydrogenase complex and lactate dehydrogenase are targets for therapy of acute liver failure 154
Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review 148
A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability 145
Late-onset mucopolysaccharidosis type IIIA mimicking Usher syndrome 144
Wilson disease protein ATP7B utilizes lysosomal exocytosis to maintain copper homeostasis 143
A novel SHANK3 interstitial microdeletion in a family with intellectual disability and brain MRI abnormalities resembling Unidentified Bright Objects. 142
A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome. 141
Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome 138
Episodi ricorrenti d rabdomiolisi secondari a difetto della beta-ossidazione degli acidi grassi. 138
Dual diagnosis in a child with familial SCN8A-related encephalopathy complicated by a 1p13.2 deletion involving NRAS gene 136
Cavitating and tigroid-like leukoencephalopathy in a case of NDUFA2-related disorder 135
Impact of liver fibrosis on AAV-mediated gene transfer to mouse hepatocytes 132
Precision medicine in action for Pompe disease 131
Discovery of drug mode of action and drug repositioning from transcriptional responses 131
Multi-year enzyme expression in patients with mucopolysaccharidosis type VI after liver-directed gene therapy 130
X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability 130
Intrafamilial variability in SPTAN1-related disorder: From benign convulsions with mild gastroenteritis to developmental encephalopathy 130
Pain and sleep disturbances in Rett syndrome and other neurodevelopmental disorders 124
Cystic fibrosis: a disorder with defective autophagy 123
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) 123
Low-dose amitriptyline-induced acute dystonia in a patient with metachromatic leukodystrophy. 122
Two cases of 16q12.1q21 deletions and refinement of the critical region 121
Activation of JNK pathway aggravates proteotoxicity of hepatic mutant Z alpha1-antitrypsin 120
Epigenetic Alterations in Inborn Errors of Immunity 120
Increased expression or activation of TRPML1 reduces hepatic storage of toxic Z alpha-1 antitrypsin 119
Beclin-1-mediated activation of autophagy improves proximal and distal urea cycle disorders 118
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) 117
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications 117
Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype 116
Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3b-hydroxysteroid-D5-desaturase 116
Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder 116
Correction of hyperbilirubinemia in Gunn rats by surgical delivery of low doses of HDAd vectors. 115
Expanding the phenotype of DST-related disorder: A case report suggesting a genotype/phenotype correlation 115
Cystic fibrosis: A disorder with defective autophagy 115
Liver-Directed Adeno-Associated Virus–Mediated Gene Therapy for Mucopolysaccharidosis Type VI 114
Enhancement of hepatic autophagy increases ureagenesis and protects against hyperammonemia 113
Nutrient-sensitive transcription factors TFEB and TFE3 couple autophagy and metabolism to the peripheral clock 113
Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant 113
New case of bilateral upper limb amelia, facial clefts, and renal hypoplasia 112
Bioengineered Factor IX Molecules with Increased Catalytic Activity Improve the Therapeutic Index of Gene Therapy Vectors for Hemophilia B. 111
Skin fibroblasts of patients with geleophysic dysplasia due to FBN1 mutations have lysosomal inclusions and losartan improves their microfibril deposition defect 110
Disease burden and management of Crigler-Najjar syndrome: Report of a world registry 109
Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet 109
Expansion of the phenotype of lateral meningocele syndrome 109
Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability 109
Current Status on Clinical Development of Adeno-Associated Virus-Mediated Liver-Directed Gene Therapy for Inborn Errors of Metabolism 108
The evolving landscape of gene therapy for congenital haemophilia: An unprecedented, problematic but promising opportunity for worldwide clinical studies 108
Inborn errors of metabolism: the flux from Mendelian to complex diseases. 107
Copy number variants at Williams-Beuren syndrome 7q11.23 region. 106
TOWARDS CLINICAL TRIALS FOR AAV-MEDIATED EYE- AND LIVER - DIRECT GENE THERAPY TRANSLATION AAV 106
Reply 106
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome 106
X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability 105
Gene therapy for inherited diseases of liver metabolism. 105
Global metabolomic profiling unravels metabolite perturbations in Rett syndrome 105
O-GlcNAcylation enhances CPS1 catalytic efficiency for ammonia and promotes ureagenesis 104
Autophagy master regulator TFEB induces clearance of toxic SERPINA1/?-1-antitrypsin polymers. 104
Progress toward improved therapies for inborn errors of metabolism 104
Prevalence and Relevance of Pre-Existing Anti-Adeno-Associated Virus Immunity in the Context of Gene Therapy for Crigler-Najjar Syndrome 104
A new case of bilateral upper limb amelia, facial clefts, and renal hypoplasia. 102
Biomarkers for gene therapy clinical trials of lysosomal storage disorders 100
VarGenius executes cohort-level DNA-seq variant calling and annotation and allows to manage the resulting data through a PostgreSQL database 100
New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency 100
Sustained Reduction of Hyperbilirubinemia in Gunn Rats after Adeno-Associated Virus-Mediated Gene Transfer of Bilirubin UDP-Glucuronosyltransferase Isozyme 1A1 to Skeletal Muscle. 99
Gene transfer of master autophagy regulator TFEB results in clearance of toxic protein and correction of hepatic disease in alpha-1- anti-trypsin deficiency. 99
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. 98
Chromosomal 17p13.3 microdeletion unmasking recessive Canavan disease mutation 98
Helper-dependent adenoviral vectors for liver-directed gene therapy of primary hyperoxaluria type 1 98
Long-term efficacy of T3 analogue Triac in children and adults with MCT8 deficiency: a real-life retrospective cohort study 98
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders 97
Enhancing Autophagy with Drugs or Lung-directed Gene Therapy Reverses the Pathological Effects of Respiratory Epithelial Cell Proteinopathy 97
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy 96
Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD. 96
TFEB gene therapy of alpha-1-antitrypsin deficiency” 96
Cerebellar vermis aplasia: Patient report and exclusion of the candidate genes EN2 and ZIC1. 93
Short-Term Correction of Arginase Deficiency in a Neonatal Murine Model with a Helper-Dependent Adenoviral Vector. 93
A novel mutation in the N-terminal region of the CYP17A1 gene in a patient with 17 alpha-hydroxylase/17,20-lyase deficiency. 93
Ensuring continuity of care for children with inherited metabolic diseases at the time of COVID-19: the experience of a metabolic unit in Italy 93
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders 92
von Voss-Cherstvoy syndrome with transient thrombocytopenia and normal psychomotor development. 92
MIB2 variants altering NOTCH signalling result in left ventricle hypertrabeculation/non-compaction and are associated with Ménétrier-like gastropathy 92
Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations 92
CHOP and c-JUN up-regulate the mutant Z α1-antitrypsin, exacerbating its aggregation and liver proteotoxicity 92
DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder 90
Neurological and psychiatric phenotype of a multicenter cohort of patients with SETD5-related neurodevelopmental disorder 90
Focal congenital lipoatrophy and vascular malformation: A mild form of inverse Klippel-Trenaunay syndrome? 90
Giant breast tumors in a patient with Beckwith-Wiedemann syndrome. 90
Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function 89
Improved efficacy and reduced toxicity by ultrasound-guided intrahepatic injections of helper-dependent adenoviral vector in Gunn rats. 89
Paralog Studies Augment Gene Discovery: DDX and DHX Genes 89
De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia 88
Mild neurological phenotype in a family carrying a novel N-terminal null GRIN2A variant 87
Gene therapies for mucopolysaccharidoses 86
Totale 12.206
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Categoria #
all - tutte 86.977
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 86.977
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20221.061 0 0 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
2025/202612.565 1.344 1.074 1.213 1.173 1.901 534 1.364 922 1.540 685 357 458
2026/20271.198 437 456 305 0 0 0 0 0 0 0 0 0
Totale 25.277