IRIS
MANDICH, PAOLA
 Distribuzione geografica
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Continente #
EU - Europa 23.330
AS - Asia 2.763
NA - Nord America 2.191
Continente sconosciuto - Info sul continente non disponibili 326
SA - Sud America 236
AF - Africa 42
OC - Oceania 5
Totale 28.893
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Nazione #
IT - Italia 22.875
US - Stati Uniti d'America 2.042
SG - Singapore 1.083
CN - Cina 678
VN - Vietnam 440
BD - Bangladesh 290
FR - Francia 182
BR - Brasile 133
HK - Hong Kong 80
CA - Canada 67
FI - Finlandia 60
AR - Argentina 40
DE - Germania 37
JP - Giappone 33
GB - Regno Unito 32
NL - Olanda 30
MX - Messico 28
IQ - Iraq 24
CH - Svizzera 20
IN - India 19
CO - Colombia 18
ES - Italia 17
JM - Giamaica 16
ID - Indonesia 15
RU - Federazione Russa 13
EC - Ecuador 12
PH - Filippine 12
PK - Pakistan 12
ZA - Sudafrica 12
CL - Cile 11
TR - Turchia 10
VE - Venezuela 9
PY - Paraguay 8
AZ - Azerbaigian 7
UA - Ucraina 7
AL - Albania 6
HN - Honduras 6
IE - Irlanda 6
JO - Giordania 6
TH - Thailandia 6
TW - Taiwan 6
UZ - Uzbekistan 6
AU - Australia 5
CR - Costa Rica 5
DO - Repubblica Dominicana 5
GT - Guatemala 5
IL - Israele 5
PL - Polonia 5
RO - Romania 5
SA - Arabia Saudita 5
SE - Svezia 5
SV - El Salvador 5
DZ - Algeria 4
EG - Egitto 4
KZ - Kazakistan 4
LT - Lituania 4
MY - Malesia 4
NI - Nicaragua 4
NP - Nepal 4
PT - Portogallo 4
AT - Austria 3
BE - Belgio 3
GR - Grecia 3
TN - Tunisia 3
UY - Uruguay 3
BA - Bosnia-Erzegovina 2
BG - Bulgaria 2
CW - ???statistics.table.value.countryCode.CW??? 2
ET - Etiopia 2
GH - Ghana 2
KE - Kenya 2
LB - Libano 2
MA - Marocco 2
NG - Nigeria 2
PA - Panama 2
PR - Porto Rico 2
PS - Palestinian Territory 2
SK - Slovacchia (Repubblica Slovacca) 2
SN - Senegal 2
AE - Emirati Arabi Uniti 1
AO - Angola 1
BJ - Benin 1
BO - Bolivia 1
BW - Botswana 1
BZ - Belize 1
CG - Congo 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
KN - Saint Kitts e Nevis 1
KR - Corea 1
KY - Cayman, isole 1
LA - Repubblica Popolare Democratica del Laos 1
LK - Sri Lanka 1
Totale 28.560
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Città #
Genova 13.184
Genoa 6.109
Rapallo 1.698
Vado Ligure 1.469
Singapore 519
San Jose 473
Ashburn 265
Lauterbourg 160
Ho Chi Minh City 150
Beijing 126
New York 99
Hanoi 95
Hong Kong 75
Council Bluffs 72
Santa Clara 59
Helsinki 57
Los Angeles 48
Bordighera 47
Frankfurt am Main 30
Rome 30
Tokyo 29
Milan 27
Dallas 26
Buffalo 25
Phoenix 23
Chicago 22
Da Nang 22
Haiphong 22
Naples 20
Orem 20
Zurich 18
Mexico City 17
Boardman 14
Atlanta 13
Montreal 13
Philadelphia 13
São Paulo 13
Toronto 13
Tianjin 12
Amsterdam 11
San Francisco 10
Baghdad 9
Brooklyn 9
Bắc Ninh 9
Houston 9
Las Vegas 9
Shanghai 9
Bari 8
Bologna 8
Kingston 8
Biên Hòa 7
City of London 7
Huntsville 7
London 7
Miami 7
Piscataway 7
Turin 7
Baku 6
Dublin 6
Jakarta 6
Memphis 6
Washington 6
Amman 5
Bogotá 5
Can Tho 5
Cape Town 5
Cincinnati 5
Cleveland 5
Des Moines 5
Detroit 5
Guatemala City 5
Johannesburg 5
Kansas City 5
Madrid 5
Manchester 5
Modesto 5
Palermo 5
San Antonio 5
Shenzhen 5
Boydton 4
Breda 4
Busnago 4
Bến Tre 4
Cape Coral 4
Charleston 4
Chennai 4
Chongqing 4
Denver 4
Endicott 4
Erbil 4
Erie 4
Hangzhou 4
Hải Dương 4
Indpls 4
Jacksonville 4
Jeddah 4
Louisville 4
Managua 4
Marseille 4
Minneapolis 4
Totale 25.474
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Nome #
Triplet repeat primed PCR (TP PCR) in molecular diagnostic testing for Friedreich ataxia 396
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. 246
17p11.2 duplication is a common finding in sporadic cases of charcot-marie-tooth type 1 242
Currarino syndrome with pelvic neuroendocrine tumor diagnosed by post-mortem genetic analysis of tissue specimens. 239
Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72. 235
Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1 234
Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier. 231
Clinical epidemiology of ALS in Liguria, Italy. 219
Twenty years of molecular analyses in amyotrophic lateral sclerosis: genetic landscape of Italian patients 216
Does parkin play a role in the peripheral nervous system? A family report 214
A putative regulatory subunit (NR3A) of the NMDA receptor complex as candidate gene for susceptibility to schizophrenia: a case-control study 213
HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients 208
Analysis of the trinucleotide repeat expansion in Italian families affected with Huntington disease 206
Clinical epidemiology of amyotrophic lateral sclerosis in Liguria, Italy: An update of LIGALS register 206
A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease. 203
Fast course ALS presenting with vocal cord paralysis: clinical features, bioinformatic and modelling analysis of the novel SOD1 Gly147Ser mutation. 203
A novel mutation of GDAP1 associated with Charcot-Marie-Tooth disease in three Italian families: evidence for a founder effect 202
TNFα induces the expression of genes associated with endothelial dysfunction through p38MAPK-mediated down-regulation of miR-149. 201
Sural nerve biopsy and functional studies support the pathogenic role of a novel MPZ mutation. 200
An abnormal mRNA produced by a novel PMP22 splice site mutation associated with HNPP 200
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. 198
Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population. 197
A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathy 197
Hereditary motor and sensory neuropathy with myelin outfolding: clinical, genetic and neuropathological study of three cases 196
TNF-α gene polymorphisms: association with disease susceptibility and response to anti-TNF-α treatment in psoriatic arthritis 196
A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family. 193
ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry. 193
Diagnostic Value of Sural Nerve Biopsy: Retrospective Analysis of Clinical Cases From 1981 to 2017 193
Clinical and genetic study of essential tremor in the Italian population. 192
Charcot-Marie-Tooth (CMT) 1a duplication at 17p11.2 in Italian families. 192
Discrepancies in reporting the CAG repeat lengths for Huntington's disease 192
GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical course 192
A novel Arg147Trp MATR3 missense mutation in a slowly progressive ALS Italian patient 191
CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients 191
AN IN VITRO MODEL OF MYELIN PROTEIN ZERO MUTATIONS IN SCHWANN CELLS 190
The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients. 189
Autosomal dominant polycystic kidney disease: a linkage evaluation of heterogeneity in Italy. Italian Collaborative Group on Polycystic Kidney Disease. 187
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. 185
Complexities of Genetic Counseling for ALS: A Case of Two Siblings with Discordant Genetic Test Results. 182
Diagnostic genetic testing for Huntington's disease. 181
Gain of glycosylation: a new pathomechanism of Myelin Protein Zero mutations 180
Suicidal ideation in a European Huntington's disease population 180
Reduced Cancer Incidence in Huntington's Disease: Analysis in the Registry Study 180
Genetic Workup for Charcot–Marie–Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 Years 180
A novel missense mutation in fumarate hydratase in an Italian patient with a diffuse variant of cutaneous leiomyomatosis (Reed's syndrome). 179
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. 179
Underexpression of messenger RNA for peripheral myelin protein 22 in hereditary neuropathy with liability to pressure palsies 178
Update upon efficacy and safety of etanercept for the treatment of spondyloarthritis and juvenile idiopathic arthritis 178
Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis 177
A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis? 177
Intracortical inhibition and facilitation are abnormal in Huntington's disease: a paired magnetic stimulation study 175
Two novel cases of compound heterozygous mutations in mitofusin2: Finding out the inheritance. 175
Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise" 175
Corticobasal degeneration shares a common genetic background with progressive supranuclear palsy 173
Mutation update for myelin protein zero-related neuropathies and the increasing role of variants causing a late-onset phenotype 171
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. 170
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). 170
Mapping of the human NMDAR2B receptor subunit gene (GRIN2B) to chromosome 12p12. 169
Neuroimaging features in C9orf72 and TARDBP double mutation with FTD phenotype. 169
1993-2014: two decades of predictive testing for Huntington's disease at the Medical Genetics Unit of the University of Genoa. 169
HMSN III phenotype due to homozygous expression of a dominant HMSN II gene. 168
T137A variant is a pathogenetic SOD1 mutation associated with a slowly progressive ALS phenotype. 167
Mapping brain morphological and functional conversion patterns in predementia late-onset bvFTD 167
Progressive sensory-motor polyneuropathy with tomaculous changes is associated to 17p11.2 deletion. 166
Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease 166
The D355V mutation decreases EGR2 binding to an element within the Cx32 promoter. 165
A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot-Marie-Tooth disease. 165
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment 164
Sonography of the median nerve in Charcot-Marie-Tooth disease 164
Enlarging clinical spectrum of FALS with TARDBP gene mutations: S393L variant in an Italian family showing phenotypic variability and relevance for genetic counselling. 164
Contribution of copy number variations in CMT1X: a retrospective study. 161
A novel mutation of myelin protein zero associated with an axonal form of Charcot-Marie-Tooth disease 159
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study 159
Genetic factors and systemic sclerosis 159
Germline mutations in the von Hippel-Lindau gene in Italian patients. 158
Clinical and genetic characteristics of late-onset Huntington's disease 157
De novo duplication in Charcot-Marie Tooth type 1A. 156
Charcot-Marie-Tooth disease: evidence of a duplication at D17S122 locus. 156
Molecular diagnosis of hereditary neuropathy with liability to pressure palsies (HNPP) by detection of 17p11.2 deletion in Italian patients. 156
Role of MAPT in Pure Motor Neuron Disease: Report of a Recurrent Mutation in Italian Patients. 155
Quantitative fluorescence-polymerase chain reaction assay for the detection of the duplication of the Charcot Marie Tooth disease type 1A critical region. 155
Bilateral motor and premotor cortex hypometabolism in a case of Mills syndrome 154
C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population. 153
Linkage exclusion in Italian families with hereditary essential tremor. 151
[Specific enzymatic amplification of a DNA region closely associated with Huntington chorea]. 151
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 150
Essential tremor is not associated with alpha-synuclein gene haplotypes 150
Variant Philadelphia translocations in CML: correlation with fragile sites. 150
Quiz page february 2015: renal colic in an adolescent. 149
Clinical and genetic features of CMT2T in Italian patients confirm the importance of MME pathogenic variants in idiopathic, late‐onset axonal neuropathies 149
Adult polycystic kidney disease: prenatal diagnosis with DNA polymorphic markers. 148
Different consequences of EGR2 mutants on the transactivation of human CX32 promoter 147
Limbic Network Derangement Mediates Unawareness of Apathy in Mild Cognitive Impairment due to Alzheimer’s Disease: Clues from [18F]FDG PET Voxel-Wise Analysis 146
Parental origin of chromosome 4p deletion in Wolf-Hirschhorn syndrome. 146
GAIN OR LOSS OF GLYCOSYLATION: THE SWEET SIDE OF MYELIN PROTEIN ZERO 146
mRNA distribution in adult human brain of GRIN2B, a N-methyl-D-aspartate (NMDA) receptor subunit. 146
How can we define a brain health chart? A narrative review and a proposal 145
Search for mutations in the EGR2 corepressor proteins, NAB1 and NAB2, in human peripheral neuropathies 145
Observing Huntington's disease: the European Huntington's Disease Network's REGISTRY. 145
Mutational analysis of parkin gene by denaturing high performance liquid chromatography (DHPLC) in essential tremor 143
Totale 18.046
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Categoria #
all - tutte 89.937
article - articoli 88.566
book - libri 0
conference - conferenze 1.371
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 179.874
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
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
2025/20267.448 927 251 447 613 916 604 1.126 399 502 640 465 558
2026/2027709 709 0 0 0 0 0 0 0 0 0 0 0
Totale 28.893