IRIS
BRUNETTI PIERRI, NICOLA
 Distribuzione geografica
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Continente #
NA - Nord America 3.196
EU - Europa 1.512
AS - Asia 1.224
AF - Africa 33
OC - Oceania 8
SA - Sud America 6
Continente sconosciuto - Info sul continente non disponibili 1
Totale 5.980
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Nazione #
US - Stati Uniti d'America 3.096
SG - Singapore 782
IT - Italia 703
CN - Cina 361
IE - Irlanda 195
FI - Finlandia 161
NL - Olanda 140
CA - Canada 96
DE - Germania 82
UA - Ucraina 74
GB - Regno Unito 49
IN - India 37
FR - Francia 30
CI - Costa d'Avorio 25
SE - Svezia 20
JP - Giappone 11
HK - Hong Kong 10
CH - Svizzera 9
IL - Israele 9
TR - Turchia 9
ES - Italia 8
BE - Belgio 7
BG - Bulgaria 6
PL - Polonia 6
AU - Australia 4
NZ - Nuova Zelanda 4
RU - Federazione Russa 4
CO - Colombia 3
CZ - Repubblica Ceca 3
MA - Marocco 3
MX - Messico 3
NO - Norvegia 3
RO - Romania 3
AT - Austria 2
BR - Brasile 2
DZ - Algeria 2
GR - Grecia 2
HR - Croazia 2
RS - Serbia 2
ZA - Sudafrica 2
EU - Europa 1
GH - Ghana 1
IR - Iran 1
KR - Corea 1
LT - Lituania 1
PA - Panama 1
PE - Perù 1
SA - Arabia Saudita 1
TW - Taiwan 1
VN - Vietnam 1
Totale 5.980
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Città #
Singapore 630
Chandler 547
Millbury 282
Santa Clara 184
Princeton 159
Ashburn 149
Jacksonville 122
Naples 122
Nanjing 118
Amsterdam 113
Des Moines 89
Ottawa 89
Wilmington 89
Boston 83
Napoli 69
Lawrence 67
Beijing 45
Nanchang 42
Kronberg 36
Woodbridge 33
Rome 32
Hebei 30
Shenyang 28
Norwalk 22
Houston 21
Pune 19
Falls Church 16
Jiaxing 16
Caserta 15
Siena 15
Changsha 14
Dublin 14
Lappeenranta 14
Ann Arbor 13
Tianjin 13
Boardman 12
Dallas 11
Milan 11
Seattle 11
Reggio Emilia 10
Turin 10
Hiroshima 8
London 8
Redwood City 8
Washington 8
Fairfield 7
Kunming 7
Los Angeles 7
Florence 6
Guangzhou 6
Lecce 6
Kayseri 5
Prineville 5
Redmond 5
Salerno 5
Springfield 5
Waanrode 5
Alcalá De Henares 4
Brescia 4
Budrio 4
Central 4
Council Bluffs 4
Edinburgh 4
Formia 4
Istanbul 4
Munich 4
Nashville 4
New York 4
Padova 4
Shenzhen 4
Zurich 4
Auckland 3
Augusta 3
Bnei Brak 3
Bologna 3
Capoliveri 3
Contursi Terme 3
Hangzhou 3
Helsinki 3
Krefeld 3
Medellín 3
New Delhi 3
Nola 3
Orange 3
Rueti 3
Sofia 3
St Andrews 3
St Petersburg 3
Torino 3
Trieste 3
Tuoro sul Trasimeno 3
Tübingen 3
Wuhan 3
Zola Predosa 3
Acerra 2
Adrano 2
Altopascio 2
Ariano Irpino 2
Aversa 2
Bangor 2
Totale 3.653
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Nome #
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature 157
Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) 118
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition) 74
Wilson disease protein ATP7B utilizes lysosomal exocytosis to maintain copper homeostasis 65
A novel SHANK3 interstitial microdeletion in a family with intellectual disability and brain MRI abnormalities resembling Unidentified Bright Objects. 64
A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome. 55
Episodi ricorrenti d rabdomiolisi secondari a difetto della beta-ossidazione degli acidi grassi. 54
A novel mutation in the N-terminal region of the CYP17A1 gene in a patient with 17 alpha-hydroxylase/17,20-lyase deficiency. 51
A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability 49
Characterization of liver involvement in defects of cholesterol biosynthesis: Long-term follow-up and review 48
Low-dose amitriptyline-induced acute dystonia in a patient with metachromatic leukodystrophy. 43
X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability 42
Chondrodysplasia Punctata 1, X-linked Recessive 42
Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review 41
Cavitating and tigroid-like leukoencephalopathy in a case of NDUFA2-related disorder 41
TOWARDS CLINICAL TRIALS FOR AAV-MEDIATED EYE- AND LIVER - DIRECT GENE THERAPY TRANSLATION AAV 40
De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia 40
Pyruvate dehydrogenase complex and lactate dehydrogenase are targets for therapy of acute liver failure 40
The evolving landscape of gene therapy for congenital haemophilia: An unprecedented, problematic but promising opportunity for worldwide clinical studies 40
Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3b-hydroxysteroid-D5-desaturase 39
A severe case of Dentatorubropallidoluysian atrophy (DRPLA) with microcephaly, very early onset of seizures, and cerebral white matter involvement. 38
Defective CFTR induces aggresome formation and lung inflammation in cystic fibrosis through ROS-mediated autophagy inhibition 38
gene therapy of human inherited diseases 38
Activation of JNK pathway aggravates proteotoxicity of hepatic mutant Z alpha1-antitrypsin 38
AP1S2-truncating variant in a patient with severe neurodevelopmental disorder and cerebral folate deficiency 38
Intrafamilial variability in SPTAN1-related disorder: From benign convulsions with mild gastroenteritis to developmental encephalopathy 38
Characterization of de novo microdeletions involving 17q11.2q12 region in two individuals with mental retardation identified through chromosomal comparative genomic hybridization (CGH). 37
Phenotypic Correction of Ornithine Transcarbamylase Deficiency Using Low Dose Helper Dependent Adenoviral Vectors. 37
Nutrient-sensitive transcription factors TFEB and TFE3 couple autophagy and metabolism to the peripheral clock 37
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) 37
30-year follow-up of a patient with classic citrullinemia. 36
Autophagy master regulator TFEB induces clearance of toxic SERPINA1/?-1-antitrypsin polymers. 36
New case of bilateral upper limb amelia, facial clefts, and renal hypoplasia 36
A new case of bilateral upper limb amelia, facial clefts, and renal hypoplasia. 35
VarGenius executes cohort-level DNA-seq variant calling and annotation and allows to manage the resulting data through a PostgreSQL database 35
Pain and sleep disturbances in Rett syndrome and other neurodevelopmental disorders 35
Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD. 34
AAV-mediated liver-directed gene therapy for Acute Intermittent Porphyria: It is safe but is it effective? 34
Reply 34
Copy number variants at Williams-Beuren syndrome 7q11.23 region. 33
Progress toward improved therapies for inborn errors of metabolism 33
Paralog Studies Augment Gene Discovery: DDX and DHX Genes 33
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications 32
15q13q14 Deletions: Phenotypic Characterization and Molecular Delineation by Comparative Genomic Hybridization. 32
A novel mutation in the N-terminal region of the CYP17A1 gene in a patient with 17 alpha-hydroxylase/17,20-lyase deficiency. 32
Retinal transduction profiles by high-capacity viral vectors. 32
Helper-dependent adenoviral vectors for liver-directed gene therapy of primary hyperoxaluria type 1 32
Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy 32
Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease 32
Molecular characterization of patients with chondrodysplasia punctata 31
Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4. 31
Bioengineered Factor IX Molecules with Increased Catalytic Activity Improve the Therapeutic Index of Gene Therapy Vectors for Hemophilia B. 31
Cystic fibrosis: a disorder with defective autophagy 31
Caratterizzazione metabolica della latosterolosi, un nuovo difetto della biosintesi del colesterolo. 31
Gene transfer of master autophagy regulator TFEB results in clearance of toxic protein and correction of hepatic disease in alpha-1- anti-trypsin deficiency. 31
A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot 31
Lathosterolosis, a novel multiple malformation/mental retardation syndrome due to deficiency 3beta-hydroxysteroid-delta5-desaturase. 30
Child Neurology: Recurrent rhabdomyolysis due to a fatty acid oxidation disorder. 30
Ammonia and autophagy: An emerging relationship with implications for disorders with hyperammonemia 30
Dual diagnosis in a child with familial SCN8A-related encephalopathy complicated by a 1p13.2 deletion involving NRAS gene 30
Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant 30
A new patient with Lowry-Wood syndrome with mild phenotype 29
Acute toxicity after high-dose systemic injection of helper-dependent adenoviral vectors in nonhuman primates. 29
Correction of hyperbilirubinemia in Gunn rats by surgical delivery of low doses of HDAd vectors. 29
SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan. 29
TFEB gene therapy of alpha-1-antitrypsin deficiency” 29
Assessment of bone mineral status in children with Marfan syndrome 28
Enhancement of hepatic autophagy increases ureagenesis and protects against hyperammonemia 28
Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3b-hydroxysteroid-D5-desaturase 27
null 27
Chromosomal 17p13.3 microdeletion unmasking recessive Canavan disease mutation 27
Autosomal dominant cerebellar vermis hypoplasia: evaluation of the possible role of EN2 and ZIC1 genes. 27
Gene therapy for inherited diseases of liver metabolism. 27
Enhancing Autophagy with Drugs or Lung-directed Gene Therapy Reverses the Pathological Effects of Respiratory Epithelial Cell Proteinopathy 27
Expansion of the phenotype of lateral meningocele syndrome 27
Beclin-1-mediated activation of autophagy improves proximal and distal urea cycle disorders 27
X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability 26
New syndrome with generalized lipodystrophy and a distinctive facial appearance: Confirmation of Keppen-Lubinski syndrome? 26
Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects. 26
Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet 26
gene2drug: a Computational Tool for Pathway-based Rational Drug Repositioning 26
Current Status on Clinical Development of Adeno-Associated Virus-Mediated Liver-Directed Gene Therapy for Inborn Errors of Metabolism 26
X-Linked Recessive Chondrodysplasia Punctata: Spectrum of Arylsulfatase E Gene Mutations and Expanded Clinical Variability 25
Lathosterolemia: a novel defect of cholesterol biosynthesis in humans associated with congenital multiple malformations and mental retardation. 25
Improved efficacy and reduced toxicity by ultrasound-guided intrahepatic injections of helper-dependent adenoviral vector in Gunn rats. 25
Gene Replacement therapy for inborn errors of metabolism 25
In Silico Modeling of Liver Metabolism in a Human Disease Reveals a Key Enzyme for Histidine and Histamine Homeostasis 25
Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations 25
Cystic fibrosis: A disorder with defective autophagy 25
Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome 24
Autosomal dominant cerebellar vermis hypoplasia: evaluation of the possible role of EN2 and ZIC1 genes 24
RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. 24
An extremely severe phenotype attributed to WDR81 nonsense mutations 24
Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder 24
Late-onset mucopolysaccharidosis type IIIA mimicking Usher syndrome 23
Lathosterolosis, a novel multiple congenital malformation/mental retardation syndrome due to the deficiency of 3 b-hydroxysteroid--D5-desaturase (SCD). 23
Esclusione dei geni candidati zic-1 ed en-2 nella ipoplasia del verme cerebellare autosomica dominante 23
Progress and challenges in development of new therapies for urea cycle disorders 23
Two cases of 16q12.1q21 deletions and refinement of the critical region 23
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs 23
Totale 3.530
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Categoria #
all - tutte 33.571
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 33.571
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020253 0 0 0 0 20 10 26 2 36 27 76 56
2020/2021333 10 14 51 31 23 69 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
2024/20251.177 414 564 40 53 106 0 0 0 0 0 0 0
Totale 6.268