IRIS
GALLUS, GIAN NICOLA
 Distribuzione geografica
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Continente #
NA - Nord America 4.952
EU - Europa 3.286
AS - Asia 1.330
SA - Sud America 232
AF - Africa 28
Continente sconosciuto - Info sul continente non disponibili 5
OC - Oceania 2
Totale 9.835
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Nazione #
US - Stati Uniti d'America 4.918
GB - Regno Unito 906
RU - Federazione Russa 695
CN - Cina 579
SG - Singapore 422
IE - Irlanda 411
IT - Italia 273
UA - Ucraina 242
SE - Svezia 223
BR - Brasile 197
DE - Germania 161
FR - Francia 132
HK - Hong Kong 101
FI - Finlandia 98
KR - Corea 68
VN - Vietnam 39
ES - Italia 32
NL - Olanda 27
IN - India 25
BE - Belgio 24
CA - Canada 22
TR - Turchia 21
BD - Bangladesh 20
AR - Argentina 15
JP - Giappone 12
PL - Polonia 12
ZA - Sudafrica 12
CZ - Repubblica Ceca 11
IQ - Iraq 7
MX - Messico 7
AT - Austria 6
BG - Bulgaria 5
EU - Europa 5
ID - Indonesia 5
SA - Arabia Saudita 5
CI - Costa d'Avorio 4
EC - Ecuador 4
GR - Grecia 4
LT - Lituania 4
PE - Perù 4
UZ - Uzbekistan 4
VE - Venezuela 4
CO - Colombia 3
DK - Danimarca 3
EG - Egitto 3
MA - Marocco 3
AM - Armenia 2
AU - Australia 2
CL - Cile 2
IL - Israele 2
IR - Iran 2
KW - Kuwait 2
LB - Libano 2
LK - Sri Lanka 2
LU - Lussemburgo 2
LV - Lettonia 2
MD - Moldavia 2
MY - Malesia 2
PK - Pakistan 2
RO - Romania 2
SI - Slovenia 2
SN - Senegal 2
TN - Tunisia 2
AE - Emirati Arabi Uniti 1
AL - Albania 1
AN - Antille olandesi 1
AZ - Azerbaigian 1
BO - Bolivia 1
BY - Bielorussia 1
DZ - Algeria 1
EE - Estonia 1
GD - Grenada 1
GL - Groenlandia 1
HR - Croazia 1
KG - Kirghizistan 1
KZ - Kazakistan 1
NG - Nigeria 1
NP - Nepal 1
PH - Filippine 1
PR - Porto Rico 1
PT - Portogallo 1
PY - Paraguay 1
RS - Serbia 1
SK - Slovacchia (Repubblica Slovacca) 1
TT - Trinidad e Tobago 1
UY - Uruguay 1
Totale 9.835
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Città #
Southend 837
Dallas 835
Menlo Park 745
Fairfield 432
Dublin 409
Ashburn 334
Chandler 294
Singapore 223
Jacksonville 204
Moscow 190
Beijing 180
Santa Clara 170
Woodbridge 168
Wilmington 166
Seattle 164
Houston 159
Ann Arbor 150
Cambridge 135
Hong Kong 100
Siena 81
New York 80
Princeton 75
Nanjing 72
Seoul 68
Hefei 67
Los Angeles 58
Helsinki 41
Munich 41
Boardman 32
Florence 31
Nanchang 29
The Dalles 28
Málaga 25
Venezia 24
Buffalo 23
San Diego 22
San Mateo 21
Shenyang 20
São Paulo 20
Council Bluffs 18
Rome 18
Shanghai 18
Izmir 16
Tianjin 16
Turku 16
Washington 15
Changsha 14
Brussels 12
Hebei 12
Ho Chi Minh City 12
Tokyo 12
Waanrode 12
Columbus 10
Kunming 10
Warsaw 10
Belo Horizonte 9
Lancaster 9
London 9
Milan 9
Redondo Beach 9
Düsseldorf 8
Jiaxing 8
Norwalk 8
Phoenix 8
Rio de Janeiro 8
Stockholm 8
Toronto 8
Denver 7
Dong Ket 7
Guangzhou 7
Jinan 7
Redwood City 7
San Francisco 7
Atlanta 6
Bengaluru 6
Hanoi 6
Itri 6
Montreal 6
Poplar 6
Aci Sant'Antonio 5
Brno 5
Campinas 5
Chicago 5
Falls Church 5
Johannesburg 5
Manchester 5
Olomouc 5
Roubaix 5
Sofia 5
Abidjan 4
Amsterdam 4
Chennai 4
Dearborn 4
Frankfurt am Main 4
Mumbai 4
Ningbo 4
Nuremberg 4
Salvador 4
Tashkent 4
Betim 3
Totale 7.246
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Nome #
A CASE OF CEREBROTENDINOUS XANTHOMATOSIS PRESENTING WITH PARKINSONISM IN THE SEVENTH DECADE 368
A novel heteroplasmic tRNA(Ser(UCN)) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss 359
A new thymidine phosphorylase mutation causing elongation of the protein underlies mitochondrial neurogastrointestinal encephalomyopathy 342
Novel POLG mutations and variable clinical phenotypes in 13 Italian patients 330
A second MNGIE patient without typical mitochondrial skeletal muscle involvement 306
A novel mutation producing premature termination codon at the OPA1 gene causes autosomal dominant optic atrophy. 306
A novel OPA1 mutation in a family with Autosomal Dominant Optic Atrophy 297
Two novel HTRA1 mutations in a European CARASIL patient. 276
Cerebellar hypometabolism with normal structural findings in Cerebrotendinous xanthomatosis. A case report 263
Frequency of OPA1 and OPTN gene variations in 18 patients with normal tension glaucoma 261
Sporadic myopathy, myoclonus, leukoencephalopathy, neurosensory deafness, hypertrophic cardiomyopathy and insulin resistance associated with the mitochondrial 8306 T>C MTTK mutation. 242
Alu-Element Insertion In The Opa1 Intron Sequence Associated With ADOA 239
Heterozygous mutations of HTRA1 gene in patients with familial cerebral small vessel disease 239
High frequency of OPA1 mutations causing high ADOA prevalence in south-eastern Sicily, Italy. 239
Progressive mitochondrial myopathy, deafness, and sporadic seizures associated with a novel mutation in the mitochondrial tRNASer(AGY) gene. 238
Mitochondria, oxidative stress and neurodegeneration. 236
A novel mutation in the mitochondrial tRNA(Pro) gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency. 227
Spastic paraplegia in 'dominant optic atrophy plus' phenotype due to OPA1 mutation 226
Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia. 226
Cerebrotendinous xanthomatosis with progressive cerebellar vacuolation. Six-year MRI follow-up 226
A novel OPA1 mutation resulting in atypical dominant optic atrophy with NTG “Like” phenotype. 225
Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene 222
Alu-element insertion in the OPA1 intron sequence associated with ADOA. 221
Clinical relevance and neurophysiological correlates of spasticity in cerebrotendinous xanthomatosis 219
Leber's hereditary optic neuropathy associated with cocaine, ecstasy and telithromycin consumption 214
Alu-element insertion in an OPA1 intron sequence associated with autosomal dominant optic atrophy 209
A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis. 209
The first cerebrotendinous xanthomatosis family from Argentina: a new mutation in CYP27A1 gene. 208
Parkinsonism as neurological presentation of late-onset cerebrotendinous xanthomatosis 200
Analysis of opa1 isoforms expression and apoptosis regulation in autosomal dominant optic atrophy (ADOA) patients with mutations in the opa1 gene 196
Valutazione delle associazioni tra polimorfismi del gene OPA 1 e glaucoma normotensivo in Italia 196
Leber's hereditary optic neuropathy associated with cocaine, ecstasy and telythromicin consumption 194
Cerebrotendinous Xanthomatosis. 190
Polyneuropathy in cerebrotendinous xanthomatosis and response to treatment with chenodeoxycholic acid. 188
null 178
Four novel CYP27A1 mutations in seven Italian patients with CTX 177
null 165
CCDC78: Unveiling the Function of a Novel Gene Associated with Hereditary Myopathy 159
The first deep intronic mutation in the NOTCH3 gene in a family with late-onset CADASIL. 154
Mutation analysis of cerebrotendinous xanthomatosis in an Indian case. 149
possible founder mutation as the cause of adoa in the province of Syracuse, Sicily 134
Evaluation of the Association Between OPA1 Gene Polymorphisms in Normal Tension Glaucoma in Italy 128
Sporadic PEO caused by a novel POLG variation and a Twinkle mutation: digenic inheritance? 124
null 109
Evaluation of cholesterol metabolism in cerebrotendinous xanthomatosis 102
Totale 9.916
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Categoria #
all - tutte 26.047
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 26.047
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021514 0 0 0 0 0 87 22 127 81 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
2025/20262.313 212 503 605 348 610 35 0 0 0 0 0 0
Totale 9.916