IRIS
MANDICH, PAOLA
 Distribuzione geografica
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Continente #
EU - Europa 22.534
AS - Asia 912
SA - Sud America 139
NA - Nord America 111
AF - Africa 12
Continente sconosciuto - Info sul continente non disponibili 1
Totale 23.709
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Nazione #
IT - Italia 22.498
SG - Singapore 403
CN - Cina 242
VN - Vietnam 198
BR - Brasile 86
US - Stati Uniti d'America 86
AR - Argentina 26
HK - Hong Kong 21
MX - Messico 20
ID - Indonesia 9
IQ - Iraq 9
BD - Bangladesh 7
EC - Ecuador 7
NL - Olanda 6
PY - Paraguay 6
RU - Federazione Russa 6
VE - Venezuela 5
ZA - Sudafrica 5
CL - Cile 4
CO - Colombia 4
ES - Italia 4
GB - Regno Unito 4
PK - Pakistan 4
UA - Ucraina 4
AZ - Azerbaigian 3
DO - Repubblica Dominicana 3
DZ - Algeria 3
IL - Israele 3
IN - India 3
AL - Albania 2
DE - Germania 2
KZ - Kazakistan 2
PT - Portogallo 2
AT - Austria 1
BE - Belgio 1
BJ - Benin 1
EG - Egitto 1
GR - Grecia 1
HN - Honduras 1
IS - Islanda 1
JO - Giordania 1
JP - Giappone 1
KG - Kirghizistan 1
LA - Repubblica Popolare Democratica del Laos 1
LB - Libano 1
MN - Mongolia 1
MY - Malesia 1
PA - Panama 1
PL - Polonia 1
RS - Serbia 1
TN - Tunisia 1
TR - Turchia 1
TZ - Tanzania 1
UY - Uruguay 1
XK - ???statistics.table.value.countryCode.XK??? 1
Totale 23.709
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Città #
Genova 13.184
Genoa 6.072
Rapallo 1.698
Vado Ligure 1.469
Singapore 142
Beijing 89
Ho Chi Minh City 87
Ashburn 52
Hanoi 51
Bordighera 47
Hong Kong 19
Mexico City 15
Tianjin 9
Haiphong 8
Los Angeles 8
Da Nang 7
Bắc Ninh 6
Jakarta 5
Baghdad 4
Breda 4
Milan 4
Porto Alegre 4
Baku 3
Biên Hòa 3
Brasília 3
Can Tho 3
Chongqing 3
Curitiba 3
Ferrandina 3
Orem 3
Phoenix 3
Rio de Janeiro 3
São Paulo 3
Almaty 2
Asunción 2
Barcelona 2
Barueri 2
Brugherio 2
Cape Town 2
Caxias do Sul 2
Dallas 2
Dhaka 2
Erbil 2
Ha Kwai Chung 2
Korçë 2
Manaus 2
Manchester 2
New York 2
Penafiel 2
Phủ Lý 2
Posadas 2
Quilmes 2
Quảng Ngãi 2
Rawalpindi 2
Recife 2
Shenzhen 2
Alessandria 1
Algiers 1
Alto Paraíso de Goiás 1
Ambato 1
Amman 1
Aracaju 1
Arapongas 1
Arroyito 1
Attapeu 1
Bagé 1
Balcarce 1
Bandung 1
Belém de São Francisco 1
Bishkek 1
Bogotá 1
Boituva 1
Buenos Aires 1
Bến Cầu 1
Bến Tre 1
Caetanópolis 1
Caleta Olivia 1
Campo Quijano 1
Carapicuíba 1
Casilda 1
Centro Municipality 1
Chennai 1
Chicago 1
Chumbicha 1
Ciudad del Este 1
Conceição da Feira 1
Concepción de la Vega 1
Conchal 1
Contagem 1
Coro 1
Coronel 1
Cotonou 1
Criciúma 1
Dar es Salaam 1
Erechim 1
Estación Colina 1
Eureka 1
Ferizaj 1
Fighiera 1
Flint 1
Totale 23.107
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Nome #
Triplet repeat primed PCR (TP PCR) in molecular diagnostic testing for Friedreich ataxia 323
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. 218
Currarino syndrome with pelvic neuroendocrine tumor diagnosed by post-mortem genetic analysis of tissue specimens. 214
17p11.2 duplication is a common finding in sporadic cases of charcot-marie-tooth type 1 213
Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1 199
Does parkin play a role in the peripheral nervous system? A family report 190
Fast course ALS presenting with vocal cord paralysis: clinical features, bioinformatic and modelling analysis of the novel SOD1 Gly147Ser mutation. 188
Analysis of the trinucleotide repeat expansion in Italian families affected with Huntington disease 187
Clinical epidemiology of ALS in Liguria, Italy. 187
Twenty years of molecular analyses in amyotrophic lateral sclerosis: genetic landscape of Italian patients 186
A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease. 182
A putative regulatory subunit (NR3A) of the NMDA receptor complex as candidate gene for susceptibility to schizophrenia: a case-control study 181
A novel mutation of GDAP1 associated with Charcot-Marie-Tooth disease in three Italian families: evidence for a founder effect 180
Clinical epidemiology of amyotrophic lateral sclerosis in Liguria, Italy: An update of LIGALS register 180
Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72. 179
Hereditary motor and sensory neuropathy with myelin outfolding: clinical, genetic and neuropathological study of three cases 178
TNF-α gene polymorphisms: association with disease susceptibility and response to anti-TNF-α treatment in psoriatic arthritis 176
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. 175
Charcot-Marie-Tooth (CMT) 1a duplication at 17p11.2 in Italian families. 174
Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population. 173
A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family. 172
A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathy 172
An abnormal mRNA produced by a novel PMP22 splice site mutation associated with HNPP 171
A novel Arg147Trp MATR3 missense mutation in a slowly progressive ALS Italian patient 171
Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier. 171
Discrepancies in reporting the CAG repeat lengths for Huntington's disease 169
Clinical and genetic study of essential tremor in the Italian population. 167
Sural nerve biopsy and functional studies support the pathogenic role of a novel MPZ mutation. 167
Autosomal dominant polycystic kidney disease: a linkage evaluation of heterogeneity in Italy. Italian Collaborative Group on Polycystic Kidney Disease. 166
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. 166
ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry. 165
A novel missense mutation in fumarate hydratase in an Italian patient with a diffuse variant of cutaneous leiomyomatosis (Reed's syndrome). 164
TNFα induces the expression of genes associated with endothelial dysfunction through p38MAPK-mediated down-regulation of miR-149. 164
Diagnostic genetic testing for Huntington's disease. 164
HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients 163
Underexpression of messenger RNA for peripheral myelin protein 22 in hereditary neuropathy with liability to pressure palsies 162
AN IN VITRO MODEL OF MYELIN PROTEIN ZERO MUTATIONS IN SCHWANN CELLS 161
Complexities of Genetic Counseling for ALS: A Case of Two Siblings with Discordant Genetic Test Results. 160
Intracortical inhibition and facilitation are abnormal in Huntington's disease: a paired magnetic stimulation study 158
Update upon efficacy and safety of etanercept for the treatment of spondyloarthritis and juvenile idiopathic arthritis 158
HMSN III phenotype due to homozygous expression of a dominant HMSN II gene. 157
Mapping of the human NMDAR2B receptor subunit gene (GRIN2B) to chromosome 12p12. 156
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. 156
The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients. 156
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. 155
The D355V mutation decreases EGR2 binding to an element within the Cx32 promoter. 153
Suicidal ideation in a European Huntington's disease population 153
Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease 153
Gain of glycosylation: a new pathomechanism of Myelin Protein Zero mutations 152
Two novel cases of compound heterozygous mutations in mitofusin2: Finding out the inheritance. 152
T137A variant is a pathogenetic SOD1 mutation associated with a slowly progressive ALS phenotype. 149
Neuroimaging features in C9orf72 and TARDBP double mutation with FTD phenotype. 149
A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis? 149
A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot-Marie-Tooth disease. 148
Progressive sensory-motor polyneuropathy with tomaculous changes is associated to 17p11.2 deletion. 148
Sonography of the median nerve in Charcot-Marie-Tooth disease 148
Corticobasal degeneration shares a common genetic background with progressive supranuclear palsy 148
Enlarging clinical spectrum of FALS with TARDBP gene mutations: S393L variant in an Italian family showing phenotypic variability and relevance for genetic counselling. 148
GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical course 147
Mapping brain morphological and functional conversion patterns in predementia late-onset bvFTD 145
Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise" 145
Diagnostic Value of Sural Nerve Biopsy: Retrospective Analysis of Clinical Cases From 1981 to 2017 145
Contribution of copy number variations in CMT1X: a retrospective study. 144
Molecular diagnosis of hereditary neuropathy with liability to pressure palsies (HNPP) by detection of 17p11.2 deletion in Italian patients. 144
Mutation update for myelin protein zero-related neuropathies and the increasing role of variants causing a late-onset phenotype 144
Genetic Workup for Charcot–Marie–Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 Years 144
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study 143
Quantitative fluorescence-polymerase chain reaction assay for the detection of the duplication of the Charcot Marie Tooth disease type 1A critical region. 142
CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients 141
1993-2014: two decades of predictive testing for Huntington's disease at the Medical Genetics Unit of the University of Genoa. 141
Variant Philadelphia translocations in CML: correlation with fragile sites. 140
Germline mutations in the von Hippel-Lindau gene in Italian patients. 140
De novo duplication in Charcot-Marie Tooth type 1A. 137
Essential tremor is not associated with alpha-synuclein gene haplotypes 137
Charcot-Marie-Tooth disease: evidence of a duplication at D17S122 locus. 137
Genetic factors and systemic sclerosis 136
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). 136
C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population. 135
Bilateral motor and premotor cortex hypometabolism in a case of Mills syndrome 135
Search for mutations in the EGR2 corepressor proteins, NAB1 and NAB2, in human peripheral neuropathies 134
Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis 134
Linkage exclusion in Italian families with hereditary essential tremor. 133
Role of MAPT in Pure Motor Neuron Disease: Report of a Recurrent Mutation in Italian Patients. 133
Quiz page february 2015: renal colic in an adolescent. 133
Different consequences of EGR2 mutants on the transactivation of human CX32 promoter 132
Molecular analysis of the IT15 gene in patients with apparently 'sporadic' Huntington's disease. 131
Adult polycystic kidney disease: prenatal diagnosis with DNA polymorphic markers. 130
[Specific enzymatic amplification of a DNA region closely associated with Huntington chorea]. 130
Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. 130
mRNA distribution in adult human brain of GRIN2B, a N-methyl-D-aspartate (NMDA) receptor subunit. 130
A novel mutation of myelin protein zero associated with an axonal form of Charcot-Marie-Tooth disease 129
Clinical and genetic characteristics of late-onset Huntington's disease 129
Parental origin of chromosome 4p deletion in Wolf-Hirschhorn syndrome. 128
The FIG4 gene does not play a major role in causing ALS in Italian patients. 126
Von Hippel-Lindau (VHL) gene analysis in Italian families with VHL disease. 126
Reliability and reproducibility of a RNA preamplification method for low-density array analysis from formalin-fixed paraffin-embedded breast cancer samples. 125
Mutational analysis of parkin gene by denaturing high performance liquid chromatography (DHPLC) in essential tremor 124
Polymorphism analysis of the huntingtin gene in Italian families affected with Huntington disease. 124
Observing Huntington's disease: the European Huntington's Disease Network's REGISTRY. 124
Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. 124
Totale 15.591
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Categoria #
all - tutte 77.166
article - articoli 75.979
book - libri 0
conference - conferenze 1.187
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 154.332
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021857 0 0 0 0 0 109 150 117 114 167 100 100
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
2025/20263.278 927 251 447 613 916 124 0 0 0 0 0 0
Totale 24.014