IRIS
GALLUS, GIAN NICOLA
 Distribuzione geografica
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Continente #
NA - Nord America 5.340
EU - Europa 3.410
AS - Asia 1.605
SA - Sud America 261
AF - Africa 82
Continente sconosciuto - Info sul continente non disponibili 5
OC - Oceania 4
Totale 10.707
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Nazione #
US - Stati Uniti d'America 5.290
GB - Regno Unito 917
RU - Federazione Russa 695
CN - Cina 617
SG - Singapore 487
IE - Irlanda 411
IT - Italia 305
UA - Ucraina 244
SE - Svezia 223
BR - Brasile 212
FR - Francia 177
DE - Germania 168
VN - Vietnam 139
HK - Hong Kong 117
FI - Finlandia 105
KR - Corea 68
ZA - Sudafrica 54
IN - India 41
ES - Italia 34
CA - Canada 32
NL - Olanda 32
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
MY - Malesia 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
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
GY - Guiana 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 10.707
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Città #
Dallas 838
Southend 837
Menlo Park 745
Fairfield 432
Dublin 409
Ashburn 360
Chandler 294
Singapore 260
Jacksonville 205
San Jose 194
Moscow 190
Beijing 180
Santa Clara 174
Woodbridge 168
Wilmington 166
Seattle 164
Houston 160
Ann Arbor 154
Cambridge 135
Hong Kong 113
Siena 82
New York 81
Hefei 80
Princeton 75
Nanjing 72
Los Angeles 68
Seoul 68
The Dalles 54
Helsinki 48
Ho Chi Minh City 47
Johannesburg 46
Munich 41
Hanoi 34
Lauterbourg 34
Boardman 32
Florence 31
Nanchang 29
Council Bluffs 26
Buffalo 25
Málaga 25
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
Milan 14
Tokyo 14
Brussels 12
Hebei 12
Waanrode 12
Belo Horizonte 11
Columbus 11
London 11
Warsaw 11
Kunming 10
Montreal 10
Lancaster 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
San Francisco 8
Stockholm 8
Amsterdam 7
Bengaluru 7
Denver 7
Dong Ket 7
Guangzhou 7
Jinan 7
Mumbai 7
Poplar 7
Redwood City 7
Tashkent 7
Atlanta 6
Biên Hòa 6
Bratislava 6
Cairo 6
Chicago 6
Itri 6
Nuremberg 6
Roubaix 6
Abuja 5
Aci Sant'Antonio 5
Brno 5
Brooklyn 5
Campinas 5
Totale 7.794
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Nome #
A CASE OF CEREBROTENDINOUS XANTHOMATOSIS PRESENTING WITH PARKINSONISM IN THE SEVENTH DECADE 395
A novel heteroplasmic tRNA(Ser(UCN)) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss 383
A new thymidine phosphorylase mutation causing elongation of the protein underlies mitochondrial neurogastrointestinal encephalomyopathy 364
Novel POLG mutations and variable clinical phenotypes in 13 Italian patients 344
A novel OPA1 mutation in a family with Autosomal Dominant Optic Atrophy 332
A second MNGIE patient without typical mitochondrial skeletal muscle involvement 328
A novel mutation producing premature termination codon at the OPA1 gene causes autosomal dominant optic atrophy. 321
Two novel HTRA1 mutations in a European CARASIL patient. 290
Frequency of OPA1 and OPTN gene variations in 18 patients with normal tension glaucoma 289
Cerebellar hypometabolism with normal structural findings in Cerebrotendinous xanthomatosis. A case report 282
Heterozygous mutations of HTRA1 gene in patients with familial cerebral small vessel disease 281
High frequency of OPA1 mutations causing high ADOA prevalence in south-eastern Sicily, Italy. 269
Sporadic myopathy, myoclonus, leukoencephalopathy, neurosensory deafness, hypertrophic cardiomyopathy and insulin resistance associated with the mitochondrial 8306 T>C MTTK mutation. 266
Progressive mitochondrial myopathy, deafness, and sporadic seizures associated with a novel mutation in the mitochondrial tRNASer(AGY) gene. 260
Alu-Element Insertion In The Opa1 Intron Sequence Associated With ADOA 259
Cerebrotendinous xanthomatosis with progressive cerebellar vacuolation. Six-year MRI follow-up 258
Alu-element insertion in the OPA1 intron sequence associated with ADOA 252
Mitochondria, oxidative stress and neurodegeneration. 251
A novel mutation in the mitochondrial tRNA(Pro) gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency. 250
A novel OPA1 mutation resulting in atypical dominant optic atrophy with NTG “Like” phenotype. 247
Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene 246
Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia. 244
Spastic paraplegia in 'dominant optic atrophy plus' phenotype due to OPA1 mutation 237
Clinical relevance and neurophysiological correlates of spasticity in cerebrotendinous xanthomatosis 232
Alu-element insertion in an OPA1 intron sequence associated with autosomal dominant optic atrophy 230
Leber's hereditary optic neuropathy associated with cocaine, ecstasy and telithromycin consumption 229
A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis. 229
Analysis of opa1 isoforms expression and apoptosis regulation in autosomal dominant optic atrophy (ADOA) patients with mutations in the opa1 gene 224
The first cerebrotendinous xanthomatosis family from Argentina: a new mutation in CYP27A1 gene. 218
Valutazione delle associazioni tra polimorfismi del gene OPA 1 e glaucoma normotensivo in Italia 216
Parkinsonism as neurological presentation of late-onset cerebrotendinous xanthomatosis 214
CCDC78: Unveiling the Function of a Novel Gene Associated with Hereditary Myopathy 211
Cerebrotendinous Xanthomatosis. 208
Leber's hereditary optic neuropathy associated with cocaine, ecstasy and telythromicin consumption 207
Polyneuropathy in cerebrotendinous xanthomatosis and response to treatment with chenodeoxycholic acid. 201
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. 173
null 165
Mutation analysis of cerebrotendinous xanthomatosis in an Indian case. 157
possible founder mutation as the cause of adoa in the province of Syracuse, Sicily 146
Sporadic PEO caused by a novel POLG variation and a Twinkle mutation: digenic inheritance? 145
Evaluation of the Association Between OPA1 Gene Polymorphisms in Normal Tension Glaucoma in Italy 142
Evaluation of cholesterol metabolism in cerebrotendinous xanthomatosis 114
null 109
Serum neuronal, glial and mitochondrial markers in autosomal dominant optic atrophy and Leber hereditary optic neuropathy 7
Totale 10.790
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Categoria #
all - tutte 28.523
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 28.523
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202153 0 0 0 0 0 0 0 0 0 0 0 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
2025/20263.187 212 503 605 348 610 115 323 81 98 152 81 59
Totale 10.790