IRIS
GALLUS, GIAN NICOLA
 Distribuzione geografica
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Continente #
NA - Nord America 5.204
EU - Europa 3.389
AS - Asia 1.599
SA - Sud America 260
AF - Africa 82
Continente sconosciuto - Info sul continente non disponibili 5
OC - Oceania 4
Totale 10.543
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Nazione #
US - Stati Uniti d'America 5.155
GB - Regno Unito 915
RU - Federazione Russa 695
CN - Cina 617
SG - Singapore 485
IE - Irlanda 411
IT - Italia 288
UA - Ucraina 244
SE - Svezia 223
BR - Brasile 212
FR - Francia 177
DE - Germania 168
VN - Vietnam 138
HK - Hong Kong 116
FI - Finlandia 105
KR - Corea 68
ZA - Sudafrica 54
IN - India 41
ES - Italia 34
CA - Canada 31
NL - Olanda 30
BD - Bangladesh 24
BE - Belgio 24
TR - Turchia 24
AR - Argentina 18
IQ - Iraq 14
JP - Giappone 14
PL - Polonia 14
CZ - Repubblica Ceca 11
MX - Messico 10
PK - Pakistan 8
VE - Venezuela 8
CO - Colombia 7
UZ - Uzbekistan 7
AT - Austria 6
BG - Bulgaria 6
EG - Egitto 6
ID - Indonesia 6
NG - Nigeria 6
SA - Arabia Saudita 6
SK - Slovacchia (Repubblica Slovacca) 6
EC - Ecuador 5
EU - Europa 5
LT - Lituania 5
AU - Australia 4
CI - Costa d'Avorio 4
GR - Grecia 4
MA - Marocco 4
NP - Nepal 4
PE - Perù 4
CL - Cile 3
DK - Danimarca 3
JO - Giordania 3
RO - Romania 3
SI - Slovenia 3
SN - Senegal 3
TN - Tunisia 3
AM - Armenia 2
IL - Israele 2
IR - Iran 2
KW - Kuwait 2
KZ - Kazakistan 2
LB - Libano 2
LK - Sri Lanka 2
LU - Lussemburgo 2
LV - Lettonia 2
MD - Moldavia 2
MY - Malesia 2
PH - Filippine 2
PT - Portogallo 2
AE - Emirati Arabi Uniti 1
AL - Albania 1
AN - Antille olandesi 1
AZ - Azerbaigian 1
BO - Bolivia 1
BY - Bielorussia 1
CR - Costa Rica 1
DZ - Algeria 1
EE - Estonia 1
GD - Grenada 1
GL - Groenlandia 1
HN - Honduras 1
HR - Croazia 1
HU - Ungheria 1
KE - Kenya 1
KG - Kirghizistan 1
PR - Porto Rico 1
PY - Paraguay 1
QA - Qatar 1
RS - Serbia 1
SV - El Salvador 1
SY - Repubblica araba siriana 1
TH - Thailandia 1
TT - Trinidad e Tobago 1
UY - Uruguay 1
Totale 10.543
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Città #
Dallas 837
Southend 837
Menlo Park 745
Fairfield 432
Dublin 409
Ashburn 348
Chandler 294
Singapore 260
Jacksonville 205
Moscow 190
Beijing 180
Santa Clara 170
Woodbridge 168
Wilmington 166
Seattle 164
Houston 159
Ann Arbor 150
San Jose 137
Cambridge 135
Hong Kong 112
Siena 82
Hefei 80
New York 80
Princeton 75
Nanjing 72
Seoul 68
Los Angeles 65
The Dalles 54
Helsinki 48
Ho Chi Minh City 46
Johannesburg 46
Munich 41
Hanoi 34
Lauterbourg 34
Boardman 32
Florence 31
Nanchang 29
Council Bluffs 26
Málaga 25
Buffalo 24
Venezia 24
San Diego 23
San Mateo 21
Shenyang 21
São Paulo 21
Shanghai 19
Rome 18
Izmir 17
Tianjin 16
Turku 16
Orem 15
Washington 15
Changsha 14
Tokyo 14
Brussels 12
Hebei 12
Waanrode 12
Belo Horizonte 11
London 11
Warsaw 11
Columbus 10
Kunming 10
Lancaster 9
Milan 9
Montreal 9
Redondo Beach 9
Toronto 9
Chennai 8
Düsseldorf 8
Frankfurt am Main 8
Jiaxing 8
Manchester 8
Norwalk 8
Phoenix 8
Rio de Janeiro 8
Stockholm 8
Amsterdam 7
Bengaluru 7
Denver 7
Dong Ket 7
Guangzhou 7
Jinan 7
Mumbai 7
Poplar 7
Redwood City 7
San Francisco 7
Tashkent 7
Atlanta 6
Biên Hòa 6
Bratislava 6
Cairo 6
Itri 6
Nuremberg 6
Roubaix 6
Abuja 5
Aci Sant'Antonio 5
Brno 5
Campinas 5
Chicago 5
Dhaka 5
Totale 7.699
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Nome #
A CASE OF CEREBROTENDINOUS XANTHOMATOSIS PRESENTING WITH PARKINSONISM IN THE SEVENTH DECADE 390
A novel heteroplasmic tRNA(Ser(UCN)) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss 379
A new thymidine phosphorylase mutation causing elongation of the protein underlies mitochondrial neurogastrointestinal encephalomyopathy 361
Novel POLG mutations and variable clinical phenotypes in 13 Italian patients 339
A novel OPA1 mutation in a family with Autosomal Dominant Optic Atrophy 327
A second MNGIE patient without typical mitochondrial skeletal muscle involvement 323
A novel mutation producing premature termination codon at the OPA1 gene causes autosomal dominant optic atrophy. 320
Two novel HTRA1 mutations in a European CARASIL patient. 285
Frequency of OPA1 and OPTN gene variations in 18 patients with normal tension glaucoma 284
Cerebellar hypometabolism with normal structural findings in Cerebrotendinous xanthomatosis. A case report 277
Heterozygous mutations of HTRA1 gene in patients with familial cerebral small vessel disease 275
High frequency of OPA1 mutations causing high ADOA prevalence in south-eastern Sicily, Italy. 266
Sporadic myopathy, myoclonus, leukoencephalopathy, neurosensory deafness, hypertrophic cardiomyopathy and insulin resistance associated with the mitochondrial 8306 T>C MTTK mutation. 261
Alu-Element Insertion In The Opa1 Intron Sequence Associated With ADOA 254
Progressive mitochondrial myopathy, deafness, and sporadic seizures associated with a novel mutation in the mitochondrial tRNASer(AGY) gene. 254
Cerebrotendinous xanthomatosis with progressive cerebellar vacuolation. Six-year MRI follow-up 254
A novel mutation in the mitochondrial tRNA(Pro) gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency. 249
Mitochondria, oxidative stress and neurodegeneration. 247
Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene 244
Alu-element insertion in the OPA1 intron sequence associated with ADOA. 244
A novel OPA1 mutation resulting in atypical dominant optic atrophy with NTG “Like” phenotype. 242
Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia. 239
Spastic paraplegia in 'dominant optic atrophy plus' phenotype due to OPA1 mutation 235
Clinical relevance and neurophysiological correlates of spasticity in cerebrotendinous xanthomatosis 229
Leber's hereditary optic neuropathy associated with cocaine, ecstasy and telithromycin consumption 228
Alu-element insertion in an OPA1 intron sequence associated with autosomal dominant optic atrophy 228
A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis. 226
Analysis of opa1 isoforms expression and apoptosis regulation in autosomal dominant optic atrophy (ADOA) patients with mutations in the opa1 gene 221
The first cerebrotendinous xanthomatosis family from Argentina: a new mutation in CYP27A1 gene. 217
Valutazione delle associazioni tra polimorfismi del gene OPA 1 e glaucoma normotensivo in Italia 213
Parkinsonism as neurological presentation of late-onset cerebrotendinous xanthomatosis 210
Cerebrotendinous Xanthomatosis. 207
Leber's hereditary optic neuropathy associated with cocaine, ecstasy and telythromicin consumption 204
Polyneuropathy in cerebrotendinous xanthomatosis and response to treatment with chenodeoxycholic acid. 196
CCDC78: Unveiling the Function of a Novel Gene Associated with Hereditary Myopathy 195
Four novel CYP27A1 mutations in seven Italian patients with CTX 187
null 178
The first deep intronic mutation in the NOTCH3 gene in a family with late-onset CADASIL. 169
null 165
Mutation analysis of cerebrotendinous xanthomatosis in an Indian case. 155
possible founder mutation as the cause of adoa in the province of Syracuse, Sicily 145
Sporadic PEO caused by a novel POLG variation and a Twinkle mutation: digenic inheritance? 141
Evaluation of the Association Between OPA1 Gene Polymorphisms in Normal Tension Glaucoma in Italy 139
Evaluation of cholesterol metabolism in cerebrotendinous xanthomatosis 113
null 109
Totale 10.624
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Categoria #
all - tutte 27.501
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 27.501
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021197 0 0 0 0 0 0 0 0 0 53 91 53
2021/2022534 40 70 28 40 42 14 33 15 25 54 66 107
2022/2023897 47 73 147 115 89 167 13 74 96 29 21 26
2023/2024681 22 13 65 23 30 212 238 19 3 15 1 40
2024/20251.272 23 73 122 68 189 70 56 80 101 41 133 316
2025/20263.021 212 503 605 348 610 115 323 81 98 126 0 0
Totale 10.624