IRIS
BALLABIO, ANDREA
 Distribuzione geografica
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Continente #
NA - Nord America 6.764
EU - Europa 4.128
AS - Asia 3.034
SA - Sud America 58
AF - Africa 50
Continente sconosciuto - Info sul continente non disponibili 9
OC - Oceania 4
Totale 14.047
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Nazione #
US - Stati Uniti d'America 6.596
SG - Singapore 1.537
UA - Ucraina 1.253
IT - Italia 1.006
CN - Cina 712
HK - Hong Kong 695
FI - Finlandia 385
DE - Germania 355
NL - Olanda 258
SE - Svezia 245
IE - Irlanda 191
GB - Regno Unito 177
CA - Canada 160
RU - Federazione Russa 159
FR - Francia 55
BR - Brasile 54
CI - Costa d'Avorio 47
IN - India 21
AT - Austria 18
VN - Vietnam 17
JP - Giappone 11
KR - Corea 10
TR - Turchia 10
BD - Bangladesh 9
EU - Europa 9
ES - Italia 5
BG - Bulgaria 4
MX - Messico 4
PL - Polonia 4
AU - Australia 3
BE - Belgio 3
AE - Emirati Arabi Uniti 2
BZ - Belize 2
CL - Cile 2
CZ - Repubblica Ceca 2
EC - Ecuador 2
HR - Croazia 2
NO - Norvegia 2
PH - Filippine 2
AZ - Azerbaigian 1
BA - Bosnia-Erzegovina 1
BH - Bahrain 1
CH - Svizzera 1
EE - Estonia 1
GA - Gabon 1
GT - Guatemala 1
IL - Israele 1
IQ - Iraq 1
IR - Iran 1
KE - Kenya 1
NZ - Nuova Zelanda 1
PA - Panama 1
SA - Arabia Saudita 1
SK - Slovacchia (Repubblica Slovacca) 1
TW - Taiwan 1
UZ - Uzbekistan 1
ZA - Sudafrica 1
Totale 14.047
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Città #
Jacksonville 1.246
Singapore 1.231
Chandler 742
Hong Kong 690
Santa Clara 459
Princeton 381
Millbury 286
Ashburn 264
Amsterdam 228
Nanjing 220
Naples 216
Wilmington 216
Woodbridge 153
Ottawa 148
Boston 123
Napoli 120
Moscow 113
Ann Arbor 105
Des Moines 100
Beijing 96
Nanchang 69
Lawrence 58
Norwalk 54
Shenyang 51
Hebei 48
Houston 48
Jiaxing 48
Seattle 41
Changsha 38
Boardman 30
Nuremberg 30
Orange 27
Tianjin 26
Washington 25
Torino 24
Milan 21
Guangzhou 20
Falls Church 19
Dearborn 16
Dong Ket 16
Los Angeles 15
London 14
Dublin 13
Kunming 13
Helsinki 12
Redwood City 12
Rome 12
Kronberg 10
New York 10
Padova 10
Salerno 10
Aviano 8
Hangzhou 8
Lappeenranta 8
Munich 8
Villaricca 8
Bengaluru 7
Canegrate 7
Fairfield 7
Fort Worth 7
Paris 7
Shanghai 7
Vienna 7
Avellino 6
Caserta 6
Cologne 6
Dallas 6
Dhaka 6
Pune 6
San Jose 6
Springfield 6
Bologna 5
Florence 5
Gwanak-gu 5
Marigliano 5
Montreal 5
Rio de Janeiro 5
Sandston 5
Verona 5
Castellammare di Stabia 4
Changchun 4
Marsicovetere 4
Menlo Park 4
Mountain View 4
Palermo 4
Pozzuoli 4
Reggio Emilia 4
Simi Valley 4
Sofia 4
Turin 4
Agropoli 3
Aprilia 3
Atlanta 3
Aversa 3
Bari 3
Bergamo 3
Boscoreale 3
Brescia 3
Carrara 3
Clifton 3
Totale 8.228
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Nome #
Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) 124
Light-responsive microRNA miR-211 targets Ezrin to modulate lysosomal biogenesis and retinal cell clearance 112
Telencephalic embryonic subtractive sequences: a unique collection of neurodevelopmental genes. 107
The European dimension for the mouse genome mutagenesis program. 98
Sulfatases and human disease. 95
The Ocular Albinism type 1 (OA!) gene controls melanosome maturation and size. 94
The DNA sequence of the human X chromosome 93
Molecular cloning and characterization of NEU4, the fourth member of the human sialidase gene family. 93
Sulfatases and sulfatase modifying factors: an exclusive and promiscuous relationship. 90
Tagging genes with cassette-exchange sites. 90
DG-CST (DISEASE GENE CONSERVED SEQUENCE TAGS), A DATABASE OF HUMAN-MOUSE CONSERVED ELEMENTS ASSOCIATED TO DESEASE GENES. 87
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition) 83
Activation of the transcription factor EB rescues lysosomal abnormalities in cystinotic kidney cells 81
TFEB at a glance 80
Aberrant autophagic vesicles in the lymphocytes from patients affected with Ataxia-Telangiectasia 75
Wilson disease protein ATP7B utilizes lysosomal exocytosis to maintain copper homeostasis 72
Sulfatase modifying factor 1 trafficking through the cells: from endoplasmic reticulum to the endoplasmic reticulum. 72
Multistep, sequential control of the trafficking and function of the multiple sulfatase deficiency gene product, SUMF1 by PDI, ERGIC-53 and ERp44. 65
Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport. 63
DG-CST (Disease Gene Conserved Sequence Tags), a database of human�mouse conserved elements associated to disease genes 60
A defect of midline development, Opitz syndrome, is due to mutations in a novel RING finger gene on Xp22 58
A substrate-specific mTORC1 pathway underlies Birt–Hogg–Dubé syndrome 57
Lysosomal fusion and SNARE function are impaired by cholesterol accumulation in lysosomal storage disorders 56
Cell metabolism: autophagy transcribed. 55
A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3. 53
MiT/TFE factors control ER-phagy via transcriptional regulation of FAM134B 53
A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genes. 52
Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance. 51
Lysosome signaling controls the migration of dendritic cells 51
GADD34 is a modulator of autophagy during starvation 50
Multiple Sulfatase Deficiency is Due to Hypomorphic Mutations of the SUMF1 Gene 49
Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency 49
Correction of Hunter syndrome via gene delivery using the MPSII mouse model. 49
Lysosomal calcium signalling regulates autophagy through calcineurin and ​TFEB 49
A mammalian homolog of the Drosophila retinal degeneration B gene: implications for the evolution of phototransduction mechanisms. 47
Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency. 47
Lysosomal storage diseases: from pathophysiology to therapy. 47
Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3b-hydroxysteroid-D5-desaturase 46
Abnormal cell-clearance and accumulation of autophagic vesicles in lymphocytes from patients affected with Ataxia-Teleangiectasia 46
Transcription Factor EB Controls Metabolic Flexibility during Exercise 46
EGR1 drives cell proliferation by directly stimulating TFEB transcription in response to starvation 45
X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability 45
Lysosomal storage diseases as disorders of autophagy 45
Deletions of the steroid sulphatase gene in "classical" X-linkedichthyosis and in X-linked ichthyosis associated with Kallmann syndrome 45
A Block of Autophagy in Lysosomal Storage Disorders 44
A novel X-linked member of the human zinc finger protein gene family: isolation, mapping, and expression. 44
Sulphatase activities are regulated by the interaction of sulphatase-modifying factor 1 with SUMF2 44
A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3. 44
A 5' regulatory sequence containing two Ets motifs controls the expression of the Wiskott-Aldrich syndrome protein (WASP) gene in human hematopoietic cells 44
A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome. 44
Nutrient-sensitive transcription factors TFEB and TFE3 couple autophagy and metabolism to the peripheral clock 44
TFEB regulates murine liver cell fate during development and regeneration 44
A homeobox gene, vax2, controls the patterning of the eye dorsoventral axis 43
Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). 43
A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-liked nonspecific mental retardation. 43
Amplification and overexpression of PRUNE in human sarcomas and breast carcinomas – a possible mechanism for altering the nm23-H1 activity. 43
A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility. 43
A method to direct sequence cosmid LAWRIST16 clones. 43
A regulatory element within the 5’ flanking sequence of the Wiskott-Aldrich syndrome (WASP) gene controls expression in human hematopoietic cells 43
Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance 43
Lack of sik1 in mouse embryonic stem cells impairs cardiomyogenesis by down-regulating the cyclin-dependent kinase inhibitor p57kip2 43
Activation of JNK pathway aggravates proteotoxicity of hepatic mutant Z alpha1-antitrypsin 43
Transcriptional activation of RagD GTPase controls mTORC1 and promotes cancer growth 43
Altered heparan sulfate metabolism during development triggers dopamine-dependent autistic-behaviours in models of lysosomal storage disorders 43
New mutations identified in the ocular albinism type 1 gene. 42
A human homolog of the Drosophila retinal degeneration C (rdgC) gene encodes a novel serine threonine phosphatase selectively expressed in sensory neurons of neural crest origin 42
Defective CFTR induces aggresome formation and lung inflammation in cystic fibrosis through ROS-mediated autophagy inhibition 42
JTESS (Telencephalic Embryonic Subtractive Sequences): a Unique Collection of Neurodevelopmental Genes. 41
A 5’ regulatory sequence containing two Ets motifs controls the expression of the Wiskott Aldrich syndrome protein (WASP) gene in human haematopoietic cells. 41
Genetics of disease The sex chromosomes and human disease. 41
Diversity, parental germline origin and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome. 41
A BglII polymorphism in the COL4A6 gene. 41
A high resolution deletion map of the human chromosome Xp22. 41
Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement. 41
A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules. 41
A highly secreted sulphamidase engineered to cross the blood-brain barrier corrects brain lesions of mice with mucopolysaccharidoses type IIIA. 41
Efficacy of a combined intracerebral and systemic gene delivery approach for the treatment of a severe lysosomal storage disorder. 41
mTOR-dependent phosphorylation controls TFEB nuclear export 41
Microphthalmia with Linear Skin defects (MLS) syndrome: clinical, cytogenetic and molecular characterization of 11 cases. American Journal Medical Genetics 40
A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1. 40
X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadism and anosmia): linkage relationships with Xg and cloned sequences from the distal short arm of the X-chromosome 40
Molecular Cytogenetics of Contiguous Gene Syndromes: Mechanisms and Consequences of Gene Dosage Imbalance. 40
Functional correction of CNS lesions in an MPS-IIIA mouse model by intracerebral AAV-mediated delivery of sulfamidase and SUMF1 genes. 40
Autophagy master regulator TFEB induces clearance of toxic SERPINA1/?-1-antitrypsin polymers. 40
Histone methyl-transferases and demethylases in the autophagy regulatory network: the emerging role of KDM1A/LSD1 demethylase 40
HDAC6-dependent ciliophagy is involved in ciliary loss and cholangiocarcinoma growth in human cells and murine models 40
Non-canonical mTORC1 signaling at the lysosome 39
Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport. 39
A novel human serine-threonine phosphatase related to the Drosophila retinal degeration C (rdgC) gene is selectively expressed in sensory neurons of neural crest origin. 39
Variable penetrance of hypogonadism in a sibship with Kallamann syndrome due to a deletion of the KAL gene 39
The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases 39
Intracerebral Administration of Adeno-Associated Viral Vector Serotype rh.10 Carrying Human SGSH and SUMF1 cDNAs in Children with Mucopolysaccharidosis Type IIIA Disease: Results of a Phase I/II Trial. 39
The Autophagy-Lysosomal Pathway in Neurodegeneration: A TFEB Perspective 39
Methods to Monitor and Manipulate TFEB Activity During Autophagy 39
X-inactivation and human disease: X-linked dominant male-lethal disorders. 38
SLC7A8, a gene mapping within the lysinuric protein intolerance critical region, encodes a new member of the glycoprotein associated amino acid transporter family. 38
A Member of a Gene Family on Xp22.3, VCX-A, Is Deleted in Patients with X-Linked Nonspecific Mental Retardation 38
Autophagy in astrocytes: a novel culprit in lysosomal storage disorders. 38
Modelling TFE renal cell carcinoma in mice reveals a critical role of WNT signaling 38
c-Abl Inhibition Activates TFEB and Promotes Cellular Clearance in a Lysosomal Disorder 38
Totale 5.230
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Categoria #
all - tutte 67.587
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 67.587
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020649 0 0 0 0 0 0 39 16 46 78 125 345
2020/20212.363 29 256 316 266 263 313 276 19 287 22 281 35
2021/20221.623 33 9 16 55 36 64 31 89 222 126 347 595
2022/20232.011 458 151 35 146 215 196 35 172 250 236 77 40
2023/20241.875 68 213 239 124 89 145 41 117 24 51 627 137
2024/20253.463 632 1.096 45 93 163 496 938 0 0 0 0 0
Totale 14.555