IRIS
GALLUS, GIAN NICOLA
 Distribuzione geografica
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Continente #
NA - Nord America 3.737
EU - Europa 2.571
AS - Asia 450
SA - Sud America 22
AF - Africa 8
Continente sconosciuto - Info sul continente non disponibili 5
OC - Oceania 2
Totale 6.795
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Nazione #
US - Stati Uniti d'America 3.724
GB - Regno Unito 885
IE - Irlanda 410
CN - Cina 322
UA - Ucraina 239
IT - Italia 227
SE - Svezia 215
RU - Federazione Russa 178
DE - Germania 117
FR - Francia 114
SG - Singapore 83
FI - Finlandia 81
ES - Italia 26
BE - Belgio 24
NL - Olanda 22
TR - Turchia 16
BR - Brasile 14
CA - Canada 10
CZ - Repubblica Ceca 9
VN - Vietnam 7
IN - India 6
EU - Europa 5
CI - Costa d'Avorio 4
GR - Grecia 4
BG - Bulgaria 3
DK - Danimarca 3
PE - Perù 3
AR - Argentina 2
AU - Australia 2
CL - Cile 2
EG - Egitto 2
HK - Hong Kong 2
IL - Israele 2
IR - Iran 2
JP - Giappone 2
LT - Lituania 2
LV - Lettonia 2
MY - Malesia 2
AM - Armenia 1
AN - Antille olandesi 1
AT - Austria 1
BO - Bolivia 1
EE - Estonia 1
GL - Groenlandia 1
HR - Croazia 1
IQ - Iraq 1
KG - Kirghizistan 1
LK - Sri Lanka 1
LU - Lussemburgo 1
MD - Moldavia 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 6.795
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Città #
Southend 837
Menlo Park 745
Fairfield 432
Dublin 408
Chandler 294
Ashburn 279
Jacksonville 203
Santa Clara 168
Woodbridge 168
Wilmington 166
Seattle 163
Houston 153
Ann Arbor 150
Cambridge 135
Beijing 87
Siena 79
Princeton 75
Nanjing 72
New York 63
Singapore 53
Helsinki 41
Boardman 32
Nanchang 29
Málaga 25
Venezia 24
San Diego 22
San Mateo 21
Shenyang 20
Moscow 19
Izmir 16
Shanghai 16
Dallas 15
Washington 15
Los Angeles 14
Tianjin 14
Rome 13
Brussels 12
Changsha 12
Hebei 12
Waanrode 12
Kunming 10
Lancaster 9
Düsseldorf 8
Florence 8
Jiaxing 8
London 8
Norwalk 8
Dong Ket 7
Jinan 7
Milan 7
Redwood City 7
Itri 6
Toronto 6
Aci Sant'Antonio 5
Brno 5
Falls Church 5
Guangzhou 5
Munich 5
Abidjan 4
Dearborn 4
Ningbo 4
Olomouc 4
Hefei 3
Hounslow 3
Lima 3
Nettuno 3
Philadelphia 3
Sofia 3
São Paulo 3
Athens 2
Auburn Hills 2
Brasília 2
Buenos Aires 2
Cairo 2
Catania 2
Changchun 2
Falkenstein 2
Fremont 2
Gaithersburg 2
Lanzhou 2
Leawood 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
Atlanta 1
Augusta 1
Açu 1
Bangalore 1
Belgrade 1
Belo Horizonte 1
Berlin 1
Binasco 1
Totale 5.324
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Nome #
Novel POLG mutations and variable clinical phenotypes in 13 Italian patients 290
Two novel HTRA1 mutations in a European CARASIL patient. 219
Cerebellar hypometabolism with normal structural findings in Cerebrotendinous xanthomatosis. A case report 201
A CASE OF CEREBROTENDINOUS XANTHOMATOSIS PRESENTING WITH PARKINSONISM IN THE SEVENTH DECADE 194
High frequency of OPA1 mutations causing high ADOA prevalence in south-eastern Sicily, Italy. 191
A second MNGIE patient without typical mitochondrial skeletal muscle involvement 191
A novel heteroplasmic tRNA(Ser(UCN)) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss 190
Progressive mitochondrial myopathy, deafness, and sporadic seizures associated with a novel mutation in the mitochondrial tRNASer(AGY) gene. 186
Heterozygous mutations of HTRA1 gene in patients with familial cerebral small vessel disease 184
Frequency of OPA1 and OPTN gene variations in 18 patients with normal tension glaucoma 182
A novel OPA1 mutation in a family with Autosomal Dominant Optic Atrophy 179
Spastic paraplegia in 'dominant optic atrophy plus' phenotype due to OPA1 mutation 179
null 178
Sporadic myopathy, myoclonus, leukoencephalopathy, neurosensory deafness, hypertrophic cardiomyopathy and insulin resistance associated with the mitochondrial 8306 T>C MTTK mutation. 175
A new thymidine phosphorylase mutation causing elongation of the protein underlies mitochondrial neurogastrointestinal encephalomyopathy 172
A novel mutation producing premature termination codon at the OPA1 gene causes autosomal dominant optic atrophy. 172
Mitochondria, oxidative stress and neurodegeneration. 171
The first cerebrotendinous xanthomatosis family from Argentina: a new mutation in CYP27A1 gene. 167
Parkinsonism as neurological presentation of late-onset cerebrotendinous xanthomatosis 165
null 165
Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia. 164
Leber's hereditary optic neuropathy associated with cocaine, ecstasy and telithromycin consumption 164
Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene 163
Valutazione delle associazioni tra polimorfismi del gene OPA 1 e glaucoma normotensivo in Italia 162
Alu-element insertion in the OPA1 intron sequence associated with ADOA. 155
A novel mutation in the mitochondrial tRNA(Pro) gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency. 154
Four novel CYP27A1 mutations in seven Italian patients with CTX 153
A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis. 151
Polyneuropathy in cerebrotendinous xanthomatosis and response to treatment with chenodeoxycholic acid. 148
Alu-Element Insertion In The Opa1 Intron Sequence Associated With ADOA 142
Cerebrotendinous xanthomatosis with progressive cerebellar vacuolation. Six-year MRI follow-up 142
Clinical relevance and neurophysiological correlates of spasticity in cerebrotendinous xanthomatosis 141
Cerebrotendinous Xanthomatosis. 139
Leber's hereditary optic neuropathy associated with cocaine, ecstasy and telythromicin consumption 135
Alu-element insertion in an OPA1 intron sequence associated with autosomal dominant optic atrophy 129
A novel OPA1 mutation resulting in atypical dominant optic atrophy with NTG “Like” phenotype. 127
The first deep intronic mutation in the NOTCH3 gene in a family with late-onset CADASIL. 118
null 109
Mutation analysis of cerebrotendinous xanthomatosis in an Indian case. 106
possible founder mutation as the cause of adoa in the province of Syracuse, Sicily 104
Evaluation of the Association Between OPA1 Gene Polymorphisms in Normal Tension Glaucoma in Italy 103
Analysis of opa1 isoforms expression and apoptosis regulation in autosomal dominant optic atrophy (ADOA) patients with mutations in the opa1 gene 72
Evaluation of cholesterol metabolism in cerebrotendinous xanthomatosis 64
Sporadic PEO caused by a novel POLG variation and a Twinkle mutation: digenic inheritance? 62
CCDC78: Unveiling the Function of a Novel Gene Associated with Hereditary Myopathy 18
Totale 6.876
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Categoria #
all - tutte 18.555
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 18.555
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020628 0 0 0 0 0 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
2024/2025545 23 73 122 68 189 70 0 0 0 0 0 0
Totale 6.876