IRIS
GALLUS, GIAN NICOLA
 Distribuzione geografica
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Continente #
NA - Nord America 3.545
EU - Europa 2.496
AS - Asia 386
AF - Africa 8
Continente sconosciuto - Info sul continente non disponibili 5
SA - Sud America 5
OC - Oceania 2
Totale 6.447
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Nazione #
US - Stati Uniti d'America 3.535
GB - Regno Unito 882
IE - Irlanda 409
CN - Cina 309
UA - Ucraina 239
SE - Svezia 215
IT - Italia 210
RU - Federazione Russa 136
DE - Germania 116
FR - Francia 114
FI - Finlandia 79
SG - Singapore 37
ES - Italia 26
BE - Belgio 23
NL - Olanda 19
TR - Turchia 16
CZ - Repubblica Ceca 9
CA - Canada 7
VN - Vietnam 7
IN - India 6
EU - Europa 5
CI - Costa d'Avorio 4
BG - Bulgaria 3
GR - Grecia 3
AU - Australia 2
CL - Cile 2
DK - Danimarca 2
EG - Egitto 2
IL - Israele 2
IR - Iran 2
JP - Giappone 2
LV - Lettonia 2
PE - Perù 2
AN - Antille olandesi 1
AT - Austria 1
BR - Brasile 1
EE - Estonia 1
GL - Groenlandia 1
HK - Hong Kong 1
HR - Croazia 1
IQ - Iraq 1
LU - Lussemburgo 1
MY - Malesia 1
NG - Nigeria 1
PH - Filippine 1
PL - Polonia 1
PT - Portogallo 1
RO - Romania 1
RS - Serbia 1
SA - Arabia Saudita 1
SK - Slovacchia (Repubblica Slovacca) 1
TN - Tunisia 1
TT - Trinidad e Tobago 1
Totale 6.447
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Città #
Southend 837
Menlo Park 745
Fairfield 432
Dublin 407
Chandler 294
Ashburn 276
Jacksonville 203
Woodbridge 168
Wilmington 166
Seattle 163
Houston 153
Ann Arbor 150
Cambridge 135
Beijing 87
Siena 76
Princeton 75
Nanjing 72
New York 63
Helsinki 39
Boardman 32
Nanchang 29
Málaga 25
Venezia 24
San Diego 22
San Mateo 21
Shenyang 20
Singapore 20
Moscow 19
Izmir 16
Dallas 15
Shanghai 15
Washington 15
Los Angeles 13
Tianjin 13
Changsha 12
Hebei 12
Waanrode 12
Brussels 11
Rome 11
Kunming 10
Lancaster 9
Düsseldorf 8
Jiaxing 8
Norwalk 8
Dong Ket 7
Jinan 7
London 7
Milan 7
Redwood City 7
Itri 6
Aci Sant'Antonio 5
Brno 5
Falls Church 5
Guangzhou 5
Abidjan 4
Dearborn 4
Munich 4
Ningbo 4
Olomouc 4
Hefei 3
Hounslow 3
Nettuno 3
Philadelphia 3
Sofia 3
Toronto 3
Auburn Hills 2
Cairo 2
Catania 2
Changchun 2
Falkenstein 2
Florence 2
Fremont 2
Lanzhou 2
Leawood 2
Lima 2
Markham 2
Mestre 2
Naples 2
Phoenix 2
Sant'Angelo in Pontano 2
Tokyo 2
Alghero 1
Amsterdam 1
Andover 1
Antrodoco 1
Arezzo 1
Athens 1
Atlanta 1
Augusta 1
Bangalore 1
Belgrade 1
Berlin 1
Binasco 1
Bonndorf 1
Bratislava 1
Brunswick 1
Calenzano 1
Caloocan City 1
Canberra 1
Central 1
Totale 5.091
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Nome #
Novel POLG mutations and variable clinical phenotypes in 13 Italian patients 283
Two novel HTRA1 mutations in a European CARASIL patient. 213
Cerebellar hypometabolism with normal structural findings in Cerebrotendinous xanthomatosis. A case report 194
A CASE OF CEREBROTENDINOUS XANTHOMATOSIS PRESENTING WITH PARKINSONISM IN THE SEVENTH DECADE 187
High frequency of OPA1 mutations causing high ADOA prevalence in south-eastern Sicily, Italy. 184
A second MNGIE patient without typical mitochondrial skeletal muscle involvement 184
A novel heteroplasmic tRNA(Ser(UCN)) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss 180
Progressive mitochondrial myopathy, deafness, and sporadic seizures associated with a novel mutation in the mitochondrial tRNASer(AGY) gene. 179
null 178
Heterozygous mutations of HTRA1 gene in patients with familial cerebral small vessel disease 177
Frequency of OPA1 and OPTN gene variations in 18 patients with normal tension glaucoma 175
Spastic paraplegia in 'dominant optic atrophy plus' phenotype due to OPA1 mutation 172
A novel OPA1 mutation in a family with Autosomal Dominant Optic Atrophy 171
Sporadic myopathy, myoclonus, leukoencephalopathy, neurosensory deafness, hypertrophic cardiomyopathy and insulin resistance associated with the mitochondrial 8306 T>C MTTK mutation. 168
A new thymidine phosphorylase mutation causing elongation of the protein underlies mitochondrial neurogastrointestinal encephalomyopathy 166
null 165
Mitochondria, oxidative stress and neurodegeneration. 164
A novel mutation producing premature termination codon at the OPA1 gene causes autosomal dominant optic atrophy. 162
The first cerebrotendinous xanthomatosis family from Argentina: a new mutation in CYP27A1 gene. 160
Leber's hereditary optic neuropathy associated with cocaine, ecstasy and telithromycin consumption 158
Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia. 157
Parkinsonism as neurological presentation of late-onset cerebrotendinous xanthomatosis 157
Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene 156
Valutazione delle associazioni tra polimorfismi del gene OPA 1 e glaucoma normotensivo in Italia 156
Four novel CYP27A1 mutations in seven Italian patients with CTX 148
A novel mutation in the mitochondrial tRNA(Pro) gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency. 146
Alu-element insertion in the OPA1 intron sequence associated with ADOA. 146
Polyneuropathy in cerebrotendinous xanthomatosis and response to treatment with chenodeoxycholic acid. 140
A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis. 140
Alu-Element Insertion In The Opa1 Intron Sequence Associated With ADOA 136
Cerebrotendinous xanthomatosis with progressive cerebellar vacuolation. Six-year MRI follow-up 136
Clinical relevance and neurophysiological correlates of spasticity in cerebrotendinous xanthomatosis 133
Cerebrotendinous Xanthomatosis. 131
Leber's hereditary optic neuropathy associated with cocaine, ecstasy and telythromicin consumption 128
Alu-element insertion in an OPA1 intron sequence associated with autosomal dominant optic atrophy 121
A novel OPA1 mutation resulting in atypical dominant optic atrophy with NTG “Like” phenotype. 120
The first deep intronic mutation in the NOTCH3 gene in a family with late-onset CADASIL. 112
null 109
Mutation analysis of cerebrotendinous xanthomatosis in an Indian case. 100
Evaluation of the Association Between OPA1 Gene Polymorphisms in Normal Tension Glaucoma in Italy 98
possible founder mutation as the cause of adoa in the province of Syracuse, Sicily 98
Analysis of opa1 isoforms expression and apoptosis regulation in autosomal dominant optic atrophy (ADOA) patients with mutations in the opa1 gene 61
Sporadic PEO caused by a novel POLG variation and a Twinkle mutation: digenic inheritance? 45
Evaluation of cholesterol metabolism in cerebrotendinous xanthomatosis 31
Totale 6.525
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Categoria #
all - tutte 17.068
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 17.068
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020983 0 0 86 188 81 88 94 135 116 101 29 65
2020/2021793 42 89 37 66 45 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
2024/2025194 23 73 98 0 0 0 0 0 0 0 0 0
Totale 6.525