CRIS Current Research Information System

PANZA, EMANUELE
 Distribuzione geografica
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Continente #
NA - Nord America 2.356
AS - Asia 1.986
EU - Europa 1.313
AF - Africa 100
SA - Sud America 87
OC - Oceania 2
Totale 5.844
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Nazione #
US - Stati Uniti d'America 2.330
VN - Vietnam 608
SG - Singapore 482
CN - Cina 473
IT - Italia 319
GB - Regno Unito 230
DE - Germania 193
HK - Hong Kong 143
SE - Svezia 102
UA - Ucraina 90
FR - Francia 72
IN - India 65
RU - Federazione Russa 64
KR - Corea 53
BR - Brasile 52
IE - Irlanda 46
FI - Finlandia 45
BD - Bangladesh 41
JO - Giordania 31
JP - Giappone 31
NL - Olanda 27
TG - Togo 26
CI - Costa d'Avorio 25
EE - Estonia 18
AR - Argentina 16
CH - Svizzera 15
ZA - Sudafrica 15
AT - Austria 14
BG - Bulgaria 14
CA - Canada 14
PL - Polonia 13
SC - Seychelles 12
BE - Belgio 10
ID - Indonesia 10
RO - Romania 9
CZ - Repubblica Ceca 8
PH - Filippine 8
TH - Thailandia 8
MX - Messico 7
CL - Cile 6
HR - Croazia 6
IQ - Iraq 6
TR - Turchia 6
ES - Italia 5
LT - Lituania 5
MA - Marocco 5
TW - Taiwan 5
CO - Colombia 4
DZ - Algeria 4
MY - Malesia 4
EC - Ecuador 3
NG - Nigeria 3
PK - Pakistan 3
SI - Slovenia 3
VE - Venezuela 3
CR - Costa Rica 2
ET - Etiopia 2
LY - Libia 2
MD - Moldavia 2
PE - Perù 2
SA - Arabia Saudita 2
UZ - Uzbekistan 2
AE - Emirati Arabi Uniti 1
AL - Albania 1
AO - Angola 1
AU - Australia 1
BW - Botswana 1
CY - Cipro 1
EG - Egitto 1
GP - Guadalupe 1
IL - Israele 1
IR - Iran 1
JM - Giamaica 1
KE - Kenya 1
LB - Libano 1
NO - Norvegia 1
NZ - Nuova Zelanda 1
PA - Panama 1
PT - Portogallo 1
PY - Paraguay 1
TN - Tunisia 1
UG - Uganda 1
Totale 5.844
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Città #
Singapore 309
Ashburn 202
Southend 194
Chandler 192
Fairfield 176
Dong Ket 150
Hong Kong 138
Cambridge 123
Santa Clara 110
Hefei 108
San Jose 108
Woodbridge 105
Ho Chi Minh City 93
Houston 91
Wilmington 88
Hanoi 83
Seattle 80
Bologna 75
Jacksonville 67
New York 65
Ann Arbor 64
Beijing 64
Boardman 55
Princeton 55
Dublin 46
Council Bluffs 45
Seoul 44
Los Angeles 42
Helsinki 35
Amman 31
Dallas 28
Berlin 27
Tokyo 27
Lomé 26
Abidjan 25
Lauterbourg 25
Westminster 23
Haiphong 21
Nanjing 21
Bremen 20
Munich 20
Padova 20
Milan 19
Buffalo 18
Da Nang 17
Guangzhou 16
Bengaluru 15
Mülheim 13
Sofia 13
Jinan 12
Redmond 11
Rome 11
Warsaw 11
Brussels 10
San Diego 10
Atlanta 9
Bern 9
Changsha 9
Des Moines 9
Hangzhou 9
Rimini 9
Saint Petersburg 9
Shenyang 9
Falkenstein 8
Florence 8
Mahé 8
Shanghai 8
São Paulo 8
Vienna 8
Amsterdam 7
Lappeenranta 7
Phoenix 7
Redondo Beach 7
Tianjin 7
Turin 7
Yubileyny 7
Zhengzhou 7
Brno 6
Falls Church 6
Olalla 6
Orem 6
Redwood City 6
Toronto 6
Xi'an 6
Chicago 5
London 5
Manchester 5
Pianella 5
Biên Hòa 4
Brooklyn 4
Buenos Aires 4
Denver 4
Genzano Di Roma 4
Harbin 4
Hebei 4
Jakarta 4
Kuala Lumpur 4
Long Xuyen 4
Nanchang 4
Naples 4
Totale 3.783
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Nome #
Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation. 251
Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity. 243
A novel locus for syndromic chronic idiopathic intestinal pseudo-obstruction maps to chromosome 8q23-q24. 231
Benign albeit glycolytic: MCT4 expression and lactate release in giant cell tumour of bone 223
Effectiveness and Impact of Transcript Analysis in Clinical Genetics Daily Practice 210
A heritable cause of cleft lip and palate - Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis. 210
Application of a fluorescent PCR method for molecular diagnosis of posttransplant lymphoproliferative disorders on routine tissue sections. 209
Genetics of human enteric neuropathies. 204
Autosomal dominant adult spinal muscular atrophy associated with alacrimia and achalasia. 202
Case report: Functional characterization of a novel CHD7 intronic variant in patients with CHARGE syndrome 189
Hereditary spastic paraplegia is a common phenotypic finding in ARG1 deficiency, P5CS deficiency and HHH syndrome: Three inborn errors of metabolism caused by alteration of an interconnected pathway of glutamate and urea cycle metabolism 186
MYH9 related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype. 185
Mutations responsible for MYH9-related thrombocytopenia impair SDF-1-driven migration of megakaryoblastic cells. 168
A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations. 167
Genetic Predisposition to Familial Neuroblastoma: Identification of Two Novel Genomic Regions at 2p and 12p. 163
The breakpoint identified in a balanced de novo translocation t(7;9)(p14.1;q31.3) disrupts the A-kinase (PRKA) anchor protein 2 gene (AKAP2) on chromosome 9 in a patient with Kallmann syndrome and bone anomalies. 161
P5CS expression study in a new family with ALDH18A1-associated hereditary spastic paraplegia SPG9 161
Molecular genetics of human enteric neuropathies. 158
Refinement of the SPG9 locus on chromosome 10q23.3-24.2 and exclusion of candidate genes. 158
Delineation of the 9q31 deletion syndrome: Genomic microarray characterization of two patients with overlapping deletions 152
New perspectives in the diagnosis and management of enteric neuropathies 151
ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism 151
Heavy chain myosin 9-related disease (MYH9 -RD): Neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder. 148
Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease. 141
null 140
Experimental Cell Models for Investigating Neurodegenerative Diseases 137
Δ1 -Pyrroline-5-carboxylate synthetase (P5CS) deficiency: An emergent multifaceted urea cycle-related disorder 135
Transfection of the mutant MYH9 cDNA reproduces the most typical cellular phenotype of MYH9-related disease in different cell lines. 134
The clear cell sarcoma functional genomic landscape 131
Phenotypic Description of A Patient with ODLURO Syndrome and Functional Characterization of the Pathogenetic Role of A Synonymous Variant c.186G>A in KMT2E Gene 127
Effects of APOE isoforms in diabetic nephropathy patients of South India 125
Biomarkers in Hereditary Spastic Paraplegias 107
Seizures and Cardiomyopathy in a Patient with Pallister-Killian Syndrome due to Hexasomy 12p Mosaicism 90
Mutations responsible for MYH9-related thrombocytopenia impair SDF-1-driven migration of megakaryoblastic cells 80
Hereditary spastic paraplegia: Genetic heterogeneity and common pathways 77
Two pathogenetic intronic variants in SPG4/SPAST and expansion of the clinical presentation 77
Hereditary spastic paraplegias proteome: common pathways and pathogenetic mechanisms 67
Linkage analysis in informative families for the identification of disease genes in the post-genoma era | L{'}analisi di linkage in famiglie informative per l{'}identificazione di geni malattia nell{'}era post-genoma 52
MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness 46
SPG4 and Dementia: Expanding the Clinical Spectrum 20
Totale 5.967
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Categoria #
all - tutte 16.118
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 16.118
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021233 0 0 0 0 0 0 0 0 0 0 0 233
2021/2022664 79 19 28 28 43 30 16 21 27 62 210 101
2022/2023645 66 104 38 103 37 47 12 38 115 14 51 20
2023/2024265 29 35 26 13 22 68 8 19 5 5 10 25
2024/2025833 43 124 91 38 150 47 69 44 12 30 39 146
2025/20261.992 155 184 210 133 178 91 202 72 366 181 96 124
Totale 5.967