IRIS
GALLUS, GIAN NICOLA
 Distribuzione geografica
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Continente #
NA - Nord America 3.526
EU - Europa 2.367
AS - Asia 366
AF - Africa 5
Continente sconosciuto - Info sul continente non disponibili 5
SA - Sud America 5
OC - Oceania 2
Totale 6.276
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Nazione #
US - Stati Uniti d'America 3.516
GB - Regno Unito 881
IE - Irlanda 409
CN - Cina 309
UA - Ucraina 239
SE - Svezia 215
IT - Italia 202
DE - Germania 114
FR - Francia 114
FI - Finlandia 70
RU - Federazione Russa 31
ES - Italia 26
BE - Belgio 23
NL - Olanda 18
SG - Singapore 18
TR - Turchia 16
CZ - Repubblica Ceca 9
CA - Canada 7
VN - Vietnam 7
IN - India 6
EU - Europa 5
BG - Bulgaria 3
AU - Australia 2
CL - Cile 2
DK - Danimarca 2
EG - Egitto 2
GR - Grecia 2
IL - Israele 2
IR - Iran 2
JP - Giappone 2
PE - Perù 2
AN - Antille olandesi 1
AT - Austria 1
BR - Brasile 1
CI - Costa d'Avorio 1
EE - Estonia 1
GL - Groenlandia 1
HK - Hong Kong 1
HR - Croazia 1
IQ - Iraq 1
LU - Lussemburgo 1
LV - Lettonia 1
NG - Nigeria 1
PH - Filippine 1
PL - Polonia 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 6.276
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Città #
Southend 837
Menlo Park 745
Fairfield 432
Dublin 407
Chandler 294
Ashburn 275
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
Boardman 32
Helsinki 30
Nanchang 29
Málaga 25
Venezia 24
San Diego 22
San Mateo 21
Shenyang 20
Moscow 19
Izmir 16
Shanghai 15
Washington 15
Tianjin 13
Changsha 12
Hebei 12
Waanrode 12
Brussels 11
Kunming 10
Los Angeles 10
Lancaster 9
Rome 9
Singapore 9
Düsseldorf 8
Jiaxing 8
Norwalk 8
Dong Ket 7
Jinan 7
Milan 7
Redwood City 7
Itri 6
London 6
Aci Sant'Antonio 5
Brno 5
Falls Church 5
Guangzhou 5
Dearborn 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
Munich 2
Naples 2
Phoenix 2
Sant'Angelo in Pontano 2
Tokyo 2
Abidjan 1
Alghero 1
Amsterdam 1
Andover 1
Antrodoco 1
Arezzo 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
Chicago 1
Clifton 1
Totale 5.045
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Nome #
Novel POLG mutations and variable clinical phenotypes in 13 Italian patients 279
Two novel HTRA1 mutations in a European CARASIL patient. 211
Cerebellar hypometabolism with normal structural findings in Cerebrotendinous xanthomatosis. A case report 192
High frequency of OPA1 mutations causing high ADOA prevalence in south-eastern Sicily, Italy. 180
A second MNGIE patient without typical mitochondrial skeletal muscle involvement 179
null 178
A CASE OF CEREBROTENDINOUS XANTHOMATOSIS PRESENTING WITH PARKINSONISM IN THE SEVENTH DECADE 177
A novel heteroplasmic tRNA(Ser(UCN)) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss 175
Progressive mitochondrial myopathy, deafness, and sporadic seizures associated with a novel mutation in the mitochondrial tRNASer(AGY) gene. 175
Heterozygous mutations of HTRA1 gene in patients with familial cerebral small vessel disease 171
Frequency of OPA1 and OPTN gene variations in 18 patients with normal tension glaucoma 169
Spastic paraplegia in 'dominant optic atrophy plus' phenotype due to OPA1 mutation 169
A novel OPA1 mutation in a family with Autosomal Dominant Optic Atrophy 166
null 165
Sporadic myopathy, myoclonus, leukoencephalopathy, neurosensory deafness, hypertrophic cardiomyopathy and insulin resistance associated with the mitochondrial 8306 T>C MTTK mutation. 165
A new thymidine phosphorylase mutation causing elongation of the protein underlies mitochondrial neurogastrointestinal encephalomyopathy 160
The first cerebrotendinous xanthomatosis family from Argentina: a new mutation in CYP27A1 gene. 158
Mitochondria, oxidative stress and neurodegeneration. 158
A novel mutation producing premature termination codon at the OPA1 gene causes autosomal dominant optic atrophy. 156
Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia. 155
Parkinsonism as neurological presentation of late-onset cerebrotendinous xanthomatosis 155
Leber's hereditary optic neuropathy associated with cocaine, ecstasy and telithromycin consumption 155
Valutazione delle associazioni tra polimorfismi del gene OPA 1 e glaucoma normotensivo in Italia 153
Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene 152
Four novel CYP27A1 mutations in seven Italian patients with CTX 145
A novel mutation in the mitochondrial tRNA(Pro) gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency. 140
Polyneuropathy in cerebrotendinous xanthomatosis and response to treatment with chenodeoxycholic acid. 139
Alu-element insertion in the OPA1 intron sequence associated with ADOA. 139
A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis. 137
Alu-Element Insertion In The Opa1 Intron Sequence Associated With ADOA 131
Cerebrotendinous xanthomatosis with progressive cerebellar vacuolation. Six-year MRI follow-up 131
Clinical relevance and neurophysiological correlates of spasticity in cerebrotendinous xanthomatosis 129
Cerebrotendinous Xanthomatosis. 128
Leber's hereditary optic neuropathy associated with cocaine, ecstasy and telythromicin consumption 124
Alu-element insertion in an OPA1 intron sequence associated with autosomal dominant optic atrophy 116
A novel OPA1 mutation resulting in atypical dominant optic atrophy with NTG “Like” phenotype. 115
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. 98
Evaluation of the Association Between OPA1 Gene Polymorphisms in Normal Tension Glaucoma in Italy 96
possible founder mutation as the cause of adoa in the province of Syracuse, Sicily 94
Analysis of opa1 isoforms expression and apoptosis regulation in autosomal dominant optic atrophy (ADOA) patients with mutations in the opa1 gene 52
Sporadic PEO caused by a novel POLG variation and a Twinkle mutation: digenic inheritance? 40
Evaluation of cholesterol metabolism in cerebrotendinous xanthomatosis 26
Totale 6.354
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Categoria #
all - tutte 16.300
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 16.300
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20201.175 152 40 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
2024/202523 23 0 0 0 0 0 0 0 0 0 0 0
Totale 6.354