CRIS Current Research Information System

PANZA, EMANUELE
 Distribuzione geografica
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Continente #
NA - Nord America 2.647
AS - Asia 2.020
EU - Europa 1.358
Continente sconosciuto - Info sul continente non disponibili 123
AF - Africa 102
SA - Sud America 98
OC - Oceania 2
Totale 6.350
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Nazione #
US - Stati Uniti d'America 2.600
VN - Vietnam 612
SG - Singapore 490
CN - Cina 475
IT - Italia 344
GB - Regno Unito 238
DE - Germania 194
HK - Hong Kong 146
SE - Svezia 103
UA - Ucraina 90
FR - Francia 72
RU - Federazione Russa 69
IN - India 65
BR - Brasile 57
KR - Corea 53
BD - Bangladesh 50
IE - Irlanda 47
FI - Finlandia 45
JO - Giordania 31
JP - Giappone 31
NL - Olanda 29
CA - Canada 26
TG - Togo 26
CI - Costa d'Avorio 25
EE - Estonia 19
AR - Argentina 16
CH - Svizzera 15
ZA - Sudafrica 15
AT - Austria 14
BG - Bulgaria 14
PL - Polonia 13
SC - Seychelles 13
BE - Belgio 10
ID - Indonesia 10
RO - Romania 9
TH - Thailandia 9
CZ - Repubblica Ceca 8
MX - Messico 8
PH - Filippine 8
CL - Cile 7
TR - Turchia 7
EC - Ecuador 6
HR - Croazia 6
IQ - Iraq 6
TW - Taiwan 6
CO - Colombia 5
ES - Italia 5
LT - Lituania 5
MA - Marocco 5
MY - Malesia 5
CR - Costa Rica 4
DZ - Algeria 4
PK - Pakistan 4
NG - Nigeria 3
SA - Arabia Saudita 3
SI - Slovenia 3
VE - Venezuela 3
AE - Emirati Arabi Uniti 2
EG - Egitto 2
ET - Etiopia 2
HN - Honduras 2
IL - Israele 2
LY - Libia 2
MD - Moldavia 2
PE - Perù 2
UZ - Uzbekistan 2
AG - Antigua e Barbuda 1
AL - Albania 1
AO - Angola 1
AU - Australia 1
BO - Bolivia 1
BW - Botswana 1
CY - Cipro 1
GP - Guadalupe 1
GT - Guatemala 1
IR - Iran 1
JM - Giamaica 1
KE - Kenya 1
LB - Libano 1
MQ - Martinica 1
NO - Norvegia 1
NZ - Nuova Zelanda 1
PA - Panama 1
PR - Porto Rico 1
PT - Portogallo 1
PY - Paraguay 1
RS - Serbia 1
TN - Tunisia 1
UG - Uganda 1
Totale 6.227
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Città #
Singapore 313
Ashburn 207
Southend 194
Chandler 192
Fairfield 176
Dong Ket 150
Hong Kong 141
San Jose 139
Cambridge 123
Santa Clara 120
Hefei 108
Woodbridge 105
Ho Chi Minh City 95
Houston 93
Wilmington 88
Council Bluffs 87
Hanoi 85
Seattle 80
Bologna 78
New York 68
Boardman 67
Jacksonville 67
Beijing 66
Ann Arbor 64
Princeton 55
Dublin 47
Los Angeles 47
Seoul 44
Helsinki 35
Amman 31
Dallas 31
Berlin 27
Tokyo 27
Lomé 26
Abidjan 25
Lauterbourg 25
Westminster 23
Haiphong 21
Milan 21
Nanjing 21
Bremen 20
Buffalo 20
Munich 20
Padova 20
Da Nang 17
Guangzhou 16
Bengaluru 15
Mülheim 13
Sofia 13
Jinan 12
Florence 11
Phoenix 11
Redmond 11
Rome 11
San Diego 11
Warsaw 11
Atlanta 10
Brussels 10
Bern 9
Changsha 9
Des Moines 9
Hangzhou 9
Rimini 9
Saint Petersburg 9
Shenyang 9
Falkenstein 8
Mahé 8
Shanghai 8
São Paulo 8
Toronto 8
Turin 8
Vienna 8
Amsterdam 7
Lappeenranta 7
Las Vegas 7
Redondo Beach 7
Tianjin 7
Yubileyny 7
Zhengzhou 7
Brno 6
Chicago 6
Falls Church 6
Manchester 6
Olalla 6
Orem 6
Redwood City 6
San Francisco 6
Xi'an 6
Brooklyn 5
Charlotte 5
Denver 5
Kuala Lumpur 5
London 5
Montreal 5
Pianella 5
Biên Hòa 4
Bogotá 4
Buenos Aires 4
Columbus 4
Genzano Di Roma 4
Totale 3.941
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Nome #
Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation. 253
Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity. 247
A novel locus for syndromic chronic idiopathic intestinal pseudo-obstruction maps to chromosome 8q23-q24. 239
Benign albeit glycolytic: MCT4 expression and lactate release in giant cell tumour of bone 234
Effectiveness and Impact of Transcript Analysis in Clinical Genetics Daily Practice 226
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. 215
Application of a fluorescent PCR method for molecular diagnosis of posttransplant lymphoproliferative disorders on routine tissue sections. 215
Case report: Functional characterization of a novel CHD7 intronic variant in patients with CHARGE syndrome 213
Autosomal dominant adult spinal muscular atrophy associated with alacrimia and achalasia. 211
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 211
Genetics of human enteric neuropathies. 210
MYH9 related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype. 193
A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations. 174
Mutations responsible for MYH9-related thrombocytopenia impair SDF-1-driven migration of megakaryoblastic cells. 172
Δ1 -Pyrroline-5-carboxylate synthetase (P5CS) deficiency: An emergent multifaceted urea cycle-related disorder 168
P5CS expression study in a new family with ALDH18A1-associated hereditary spastic paraplegia SPG9 168
Genetic Predisposition to Familial Neuroblastoma: Identification of Two Novel Genomic Regions at 2p and 12p. 167
Heavy chain myosin 9-related disease (MYH9 -RD): Neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder. 167
Molecular genetics of human enteric neuropathies. 164
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. 164
Refinement of the SPG9 locus on chromosome 10q23.3-24.2 and exclusion of candidate genes. 162
ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism 160
Delineation of the 9q31 deletion syndrome: Genomic microarray characterization of two patients with overlapping deletions 158
New perspectives in the diagnosis and management of enteric neuropathies 156
Effects of APOE isoforms in diabetic nephropathy patients of South India 152
Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease. 144
Experimental Cell Models for Investigating Neurodegenerative Diseases 141
The clear cell sarcoma functional genomic landscape 141
null 140
Transfection of the mutant MYH9 cDNA reproduces the most typical cellular phenotype of MYH9-related disease in different cell lines. 137
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 135
Biomarkers in Hereditary Spastic Paraplegias 114
Two pathogenetic intronic variants in SPG4/SPAST and expansion of the clinical presentation 107
Seizures and Cardiomyopathy in a Patient with Pallister-Killian Syndrome due to Hexasomy 12p Mosaicism 95
Hereditary spastic paraplegia: Genetic heterogeneity and common pathways 84
Mutations responsible for MYH9-related thrombocytopenia impair SDF-1-driven migration of megakaryoblastic cells 83
Hereditary spastic paraplegias proteome: common pathways and pathogenetic mechanisms 74
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 58
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 54
SPG4 and Dementia: Expanding the Clinical Spectrum 44
Totale 6.350
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Categoria #
all - tutte 17.536
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 17.536
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022566 0 0 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
2025/20261.997 155 184 210 133 178 91 202 72 366 181 96 129
2026/2027378 73 152 153 0 0 0 0 0 0 0 0 0
Totale 6.350