IRIS
MANDICH, PAOLA
 Distribuzione geografica
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Continente #
EU - Europa 23.174
AS - Asia 2.530
NA - Nord America 1.343
SA - Sud America 203
AF - Africa 42
OC - Oceania 5
Continente sconosciuto - Info sul continente non disponibili 3
Totale 27.300
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Nazione #
IT - Italia 22.740
US - Stati Uniti d'America 1.262
SG - Singapore 1.077
CN - Cina 671
VN - Vietnam 437
FR - Francia 176
BR - Brasile 120
BD - Bangladesh 81
HK - Hong Kong 80
FI - Finlandia 60
DE - Germania 37
AR - Argentina 35
CA - Canada 32
JP - Giappone 32
GB - Regno Unito 31
MX - Messico 28
NL - Olanda 27
IQ - Iraq 24
CH - Svizzera 20
IN - India 19
ES - Italia 14
ID - Indonesia 14
PH - Filippine 12
PK - Pakistan 12
ZA - Sudafrica 12
RU - Federazione Russa 11
EC - Ecuador 10
TR - Turchia 10
CL - Cile 9
CO - Colombia 9
VE - Venezuela 8
AZ - Azerbaigian 7
PY - Paraguay 7
UA - Ucraina 7
AL - Albania 6
IE - Irlanda 6
JM - Giamaica 6
JO - Giordania 6
TH - Thailandia 6
TW - Taiwan 6
UZ - Uzbekistan 6
AU - Australia 5
IL - Israele 5
SA - Arabia Saudita 5
SE - Svezia 5
DO - Repubblica Dominicana 4
DZ - Algeria 4
EG - Egitto 4
HN - Honduras 4
KZ - Kazakistan 4
LT - Lituania 4
PL - Polonia 4
RO - Romania 4
AT - Austria 3
GR - Grecia 3
PT - Portogallo 3
TN - Tunisia 3
UY - Uruguay 3
BE - Belgio 2
BG - Bulgaria 2
ET - Etiopia 2
GH - Ghana 2
GT - Guatemala 2
KE - Kenya 2
LB - Libano 2
MA - Marocco 2
MY - Malesia 2
NG - Nigeria 2
NP - Nepal 2
PA - Panama 2
PS - Palestinian Territory 2
SK - Slovacchia (Repubblica Slovacca) 2
SN - Senegal 2
AO - Angola 1
BA - Bosnia-Erzegovina 1
BJ - Benin 1
BO - Bolivia 1
BW - Botswana 1
CG - Congo 1
CR - Costa Rica 1
CW - ???statistics.table.value.countryCode.CW??? 1
CY - Cipro 1
DK - Danimarca 1
GA - Gabon 1
GE - Georgia 1
GF - Guiana Francese 1
HR - Croazia 1
HU - Ungheria 1
IS - Islanda 1
KG - Kirghizistan 1
KR - Corea 1
LA - Repubblica Popolare Democratica del Laos 1
LK - Sri Lanka 1
MN - Mongolia 1
MU - Mauritius 1
NI - Nicaragua 1
OM - Oman 1
PR - Porto Rico 1
RS - Serbia 1
SI - Slovenia 1
Totale 27.297
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Città #
Genova 13.184
Genoa 6.104
Rapallo 1.698
Vado Ligure 1.469
Singapore 517
San Jose 370
Ashburn 181
Lauterbourg 160
Ho Chi Minh City 150
Beijing 119
Hanoi 94
New York 84
Hong Kong 75
Council Bluffs 72
Helsinki 57
Bordighera 47
Santa Clara 44
Frankfurt am Main 30
Los Angeles 30
Tokyo 29
Haiphong 22
Da Nang 21
Orem 20
Zurich 18
Mexico City 17
Milan 17
Rome 17
Dallas 14
Buffalo 13
Montreal 12
Naples 12
Tianjin 12
Amsterdam 11
Chicago 11
São Paulo 11
Baghdad 9
Bắc Ninh 9
Phoenix 9
Shanghai 9
Bologna 8
Atlanta 7
Biên Hòa 7
City of London 7
Baku 6
Dublin 6
Houston 6
Jakarta 6
London 6
Piscataway 6
Toronto 6
Amman 5
Bari 5
Can Tho 5
Cape Town 5
Des Moines 5
Johannesburg 5
Madrid 5
Shenzhen 5
Turin 5
Breda 4
Brooklyn 4
Busnago 4
Bến Tre 4
Chennai 4
Chongqing 4
Denver 4
Erbil 4
Hangzhou 4
Hải Dương 4
Jeddah 4
Kingston 4
Manchester 4
Marseille 4
Memphis 4
Nuremberg 4
Porto Alegre 4
Quận Ba 4
Rio de Janeiro 4
Stockholm 4
Sydney 4
Tashkent 4
Alessandria 3
Bagno a Ripoli 3
Brasília 3
Cairo 3
Cincinnati 3
Curitiba 3
Dhaka 3
Ferrandina 3
Guangzhou 3
Istanbul 3
Lappeenranta 3
Las Vegas 3
Manaus 3
Manila 3
Miami 3
Montevideo 3
Mosul 3
Palermo 3
Paris 3
Totale 25.039
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Nome #
Triplet repeat primed PCR (TP PCR) in molecular diagnostic testing for Friedreich ataxia 373
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. 239
17p11.2 duplication is a common finding in sporadic cases of charcot-marie-tooth type 1 234
Currarino syndrome with pelvic neuroendocrine tumor diagnosed by post-mortem genetic analysis of tissue specimens. 233
Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1 227
Clinical epidemiology of ALS in Liguria, Italy. 215
A putative regulatory subunit (NR3A) of the NMDA receptor complex as candidate gene for susceptibility to schizophrenia: a case-control study 208
Does parkin play a role in the peripheral nervous system? A family report 207
Twenty years of molecular analyses in amyotrophic lateral sclerosis: genetic landscape of Italian patients 207
Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72. 205
Analysis of the trinucleotide repeat expansion in Italian families affected with Huntington disease 203
Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier. 203
HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients 202
A novel mutation of GDAP1 associated with Charcot-Marie-Tooth disease in three Italian families: evidence for a founder effect 200
Clinical epidemiology of amyotrophic lateral sclerosis in Liguria, Italy: An update of LIGALS register 200
A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease. 199
Fast course ALS presenting with vocal cord paralysis: clinical features, bioinformatic and modelling analysis of the novel SOD1 Gly147Ser mutation. 199
TNFα induces the expression of genes associated with endothelial dysfunction through p38MAPK-mediated down-regulation of miR-149. 197
A family with autosomal dominant mutilating neuropathy not linked to either Charcot-Marie-Tooth disease type 2B (CMT2B) or hereditary sensory neuropathy type I (HSN I) loci. 194
Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population. 194
TNF-α gene polymorphisms: association with disease susceptibility and response to anti-TNF-α treatment in psoriatic arthritis 193
A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathy 193
Hereditary motor and sensory neuropathy with myelin outfolding: clinical, genetic and neuropathological study of three cases 191
An abnormal mRNA produced by a novel PMP22 splice site mutation associated with HNPP 191
Sural nerve biopsy and functional studies support the pathogenic role of a novel MPZ mutation. 190
A novel Arg147Trp MATR3 missense mutation in a slowly progressive ALS Italian patient 189
A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family. 188
Discrepancies in reporting the CAG repeat lengths for Huntington's disease 188
Charcot-Marie-Tooth (CMT) 1a duplication at 17p11.2 in Italian families. 187
Diagnostic Value of Sural Nerve Biopsy: Retrospective Analysis of Clinical Cases From 1981 to 2017 187
AN IN VITRO MODEL OF MYELIN PROTEIN ZERO MUTATIONS IN SCHWANN CELLS 186
ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry. 185
Clinical and genetic study of essential tremor in the Italian population. 184
Autosomal dominant polycystic kidney disease: a linkage evaluation of heterogeneity in Italy. Italian Collaborative Group on Polycystic Kidney Disease. 183
GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical course 179
Complexities of Genetic Counseling for ALS: A Case of Two Siblings with Discordant Genetic Test Results. 179
The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients. 179
Enlarging the clinical spectrum associated with C9orf 72 repeat expansions: findings in an Italian cohort of patients with parkinsonian syndromes and relevance for genetic counselling. 177
Genetic Workup for Charcot–Marie–Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 Years 176
Suicidal ideation in a European Huntington's disease population 175
Diagnostic genetic testing for Huntington's disease. 175
Update upon efficacy and safety of etanercept for the treatment of spondyloarthritis and juvenile idiopathic arthritis 175
Underexpression of messenger RNA for peripheral myelin protein 22 in hereditary neuropathy with liability to pressure palsies 174
A novel missense mutation in fumarate hydratase in an Italian patient with a diffuse variant of cutaneous leiomyomatosis (Reed's syndrome). 174
Gain of glycosylation: a new pathomechanism of Myelin Protein Zero mutations 173
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. 172
Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise" 170
A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis? 169
Intracortical inhibition and facilitation are abnormal in Huntington's disease: a paired magnetic stimulation study 168
Use of cosH1 probe in hereditary neuropathy with liability to pressure palsies: a reliable genetic test for demonstration of identical size of 17p11.2 deletion in unrelated patients. 168
Corticobasal degeneration shares a common genetic background with progressive supranuclear palsy 168
HMSN III phenotype due to homozygous expression of a dominant HMSN II gene. 167
Two novel cases of compound heterozygous mutations in mitofusin2: Finding out the inheritance. 166
CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients 166
Mapping of the human NMDAR2B receptor subunit gene (GRIN2B) to chromosome 12p12. 165
Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease 164
Severe neuropathy after Diphtheria-Tetanus-Pertussis vaccination in a child carrying a novel frame-shift mutation in the small haet-shock protein 27 gene (HSPB1). 164
Mutation update for myelin protein zero-related neuropathies and the increasing role of variants causing a late-onset phenotype 163
1993-2014: two decades of predictive testing for Huntington's disease at the Medical Genetics Unit of the University of Genoa. 163
A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot-Marie-Tooth disease. 162
T137A variant is a pathogenetic SOD1 mutation associated with a slowly progressive ALS phenotype. 162
Mapping brain morphological and functional conversion patterns in predementia late-onset bvFTD 162
Neuroimaging features in C9orf72 and TARDBP double mutation with FTD phenotype. 162
The D355V mutation decreases EGR2 binding to an element within the Cx32 promoter. 160
Progressive sensory-motor polyneuropathy with tomaculous changes is associated to 17p11.2 deletion. 160
Enlarging clinical spectrum of FALS with TARDBP gene mutations: S393L variant in an Italian family showing phenotypic variability and relevance for genetic counselling. 160
Sonography of the median nerve in Charcot-Marie-Tooth disease 158
Contribution of copy number variations in CMT1X: a retrospective study. 155
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study 155
A novel mutation of myelin protein zero associated with an axonal form of Charcot-Marie-Tooth disease 154
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment 152
Genetic factors and systemic sclerosis 152
Quantitative fluorescence-polymerase chain reaction assay for the detection of the duplication of the Charcot Marie Tooth disease type 1A critical region. 152
Charcot-Marie-Tooth disease: evidence of a duplication at D17S122 locus. 151
Molecular diagnosis of hereditary neuropathy with liability to pressure palsies (HNPP) by detection of 17p11.2 deletion in Italian patients. 151
De novo duplication in Charcot-Marie Tooth type 1A. 150
Variant Philadelphia translocations in CML: correlation with fragile sites. 150
Germline mutations in the von Hippel-Lindau gene in Italian patients. 150
Clinical and genetic characteristics of late-onset Huntington's disease 149
Role of MAPT in Pure Motor Neuron Disease: Report of a Recurrent Mutation in Italian Patients. 149
Essential tremor is not associated with alpha-synuclein gene haplotypes 148
[Specific enzymatic amplification of a DNA region closely associated with Huntington chorea]. 148
C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population. 148
Bilateral motor and premotor cortex hypometabolism in a case of Mills syndrome 148
Linkage exclusion in Italian families with hereditary essential tremor. 146
Different consequences of EGR2 mutants on the transactivation of human CX32 promoter 145
Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis 145
Quiz page february 2015: renal colic in an adolescent. 145
Adult polycystic kidney disease: prenatal diagnosis with DNA polymorphic markers. 144
Molecular analysis of the IT15 gene in patients with apparently 'sporadic' Huntington's disease. 143
Search for mutations in the EGR2 corepressor proteins, NAB1 and NAB2, in human peripheral neuropathies 142
mRNA distribution in adult human brain of GRIN2B, a N-methyl-D-aspartate (NMDA) receptor subunit. 142
How can we define a brain health chart? A narrative review and a proposal 141
GAIN OR LOSS OF GLYCOSYLATION: THE SWEET SIDE OF MYELIN PROTEIN ZERO 141
Reduced Cancer Incidence in Huntington's Disease: Analysis in the Registry Study 141
Parental origin of chromosome 4p deletion in Wolf-Hirschhorn syndrome. 140
Observing Huntington's disease: the European Huntington's Disease Network's REGISTRY. 140
Clinical and genetic features of CMT2T in Italian patients confirm the importance of MME pathogenic variants in idiopathic, late‐onset axonal neuropathies 140
Artificial intelligence of imaging and clinical neurological data for predictive, preventive and personalized (P3) medicine for Parkinson Disease: The NeuroArtP3 protocol for a multi-center research study 139
Reliability and reproducibility of a RNA preamplification method for low-density array analysis from formalin-fixed paraffin-embedded breast cancer samples. 138
Totale 17.363
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Categoria #
all - tutte 84.703
article - articoli 83.405
book - libri 0
conference - conferenze 1.298
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 169.406
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021200 0 0 0 0 0 0 0 0 0 0 100 100
2021/20222.022 65 136 230 215 74 113 144 451 77 174 94 249
2022/20232.043 206 200 24 209 327 334 5 161 338 21 190 28
2023/20241.381 69 132 55 173 90 294 82 88 69 61 93 175
2024/20253.925 132 254 110 285 463 419 388 675 175 165 397 462
2025/20266.880 927 251 447 613 916 604 1.126 399 502 640 455 0
Totale 27.616