IRIS
MANDICH, PAOLA
 Distribuzione geografica
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Continente #
EU - Europa 18.434
Totale 18.434
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Nazione #
IT - Italia 18.434
Totale 18.434
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Città #
Genova 13.254
Genoa 1.826
Rapallo 1.781
Vado Ligure 1.524
Bordighera 49
Totale 18.434
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Nome #
Triplet repeat primed PCR (TP PCR) in molecular diagnostic testing for Friedreich ataxia 238
Currarino syndrome with pelvic neuroendocrine tumor diagnosed by post-mortem genetic analysis of tissue specimens. 185
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. 176
SARS-CoV-2 infection and venous thromboembolism after surgery: an international prospective cohort study 175
Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1 160
Hereditary motor and sensory neuropathy with myelin outfolding: clinical, genetic and neuropathological study of three cases 158
Fast course ALS presenting with vocal cord paralysis: clinical features, bioinformatic and modelling analysis of the novel SOD1 Gly147Ser mutation. 157
Analysis of the trinucleotide repeat expansion in Italian families affected with Huntington disease 156
Does parkin play a role in the peripheral nervous system? A family report 151
17p11.2 duplication is a common finding in sporadic cases of charcot-marie-tooth type 1 150
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. 147
Clinical epidemiology of ALS in Liguria, Italy. 147
Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72. 147
A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease. 146
Intracortical inhibition and facilitation are abnormal in Huntington's disease: a paired magnetic stimulation study 144
A putative regulatory subunit (NR3A) of the NMDA receptor complex as candidate gene for susceptibility to schizophrenia: a case-control study 144
Clinical epidemiology of amyotrophic lateral sclerosis in Liguria, Italy: An update of LIGALS register 144
Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population. 143
TNF-α gene polymorphisms: association with disease susceptibility and response to anti-TNF-α treatment in psoriatic arthritis 143
HMSN III phenotype due to homozygous expression of a dominant HMSN II gene. 142
A novel mutation of GDAP1 associated with Charcot-Marie-Tooth disease in three Italian families: evidence for a founder effect 142
Clinical and genetic study of essential tremor in the Italian population. 141
Sural nerve biopsy and functional studies support the pathogenic role of a novel MPZ mutation. 141
Mapping of the human NMDAR2B receptor subunit gene (GRIN2B) to chromosome 12p12. 140
Underexpression of messenger RNA for peripheral myelin protein 22 in hereditary neuropathy with liability to pressure palsies 140
A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family. 140
Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease 140
ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry. 139
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. 139
Twenty years of molecular analyses in amyotrophic lateral sclerosis: genetic landscape of Italian patients 139
Charcot-Marie-Tooth (CMT) 1a duplication at 17p11.2 in Italian families. 137
HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients 136
Diagnostic genetic testing for Huntington's disease. 135
TNFα induces the expression of genes associated with endothelial dysfunction through p38MAPK-mediated down-regulation of miR-149. 134
Discrepancies in reporting the CAG repeat lengths for Huntington's disease 134
Sonography of the median nerve in Charcot-Marie-Tooth disease 133
Autosomal dominant polycystic kidney disease: a linkage evaluation of heterogeneity in Italy. Italian Collaborative Group on Polycystic Kidney Disease. 132
Suicidal ideation in a European Huntington's disease population 132
Progressive sensory-motor polyneuropathy with tomaculous changes is associated to 17p11.2 deletion. 132
T137A variant is a pathogenetic SOD1 mutation associated with a slowly progressive ALS phenotype. 132
Quantitative fluorescence-polymerase chain reaction assay for the detection of the duplication of the Charcot Marie Tooth disease type 1A critical region. 132
An abnormal mRNA produced by a novel PMP22 splice site mutation associated with HNPP 131
The D355V mutation decreases EGR2 binding to an element within the Cx32 promoter. 130
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. 130
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study 130
A novel missense mutation in fumarate hydratase in an Italian patient with a diffuse variant of cutaneous leiomyomatosis (Reed's syndrome). 129
Variant Philadelphia translocations in CML: correlation with fragile sites. 128
Complexities of Genetic Counseling for ALS: A Case of Two Siblings with Discordant Genetic Test Results. 127
The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients. 126
Germline mutations in the von Hippel-Lindau gene in Italian patients. 125
Gain of glycosylation: a new pathomechanism of Myelin Protein Zero mutations 124
AN IN VITRO MODEL OF MYELIN PROTEIN ZERO MUTATIONS IN SCHWANN CELLS 124
C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population. 124
Molecular diagnosis of hereditary neuropathy with liability to pressure palsies (HNPP) by detection of 17p11.2 deletion in Italian patients. 124
Search for mutations in the EGR2 corepressor proteins, NAB1 and NAB2, in human peripheral neuropathies 123
Linkage exclusion in Italian families with hereditary essential tremor. 123
Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. 122
GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical course 122
Essential tremor is not associated with alpha-synuclein gene haplotypes 121
Molecular analysis of the IT15 gene in patients with apparently 'sporadic' Huntington's disease. 121
Corticobasal degeneration shares a common genetic background with progressive supranuclear palsy 121
A novel Arg147Trp MATR3 missense mutation in a slowly progressive ALS Italian patient 121
Update upon efficacy and safety of etanercept for the treatment of spondyloarthritis and juvenile idiopathic arthritis 121
Two novel cases of compound heterozygous mutations in mitofusin2: Finding out the inheritance. 121
Different consequences of EGR2 mutants on the transactivation of human CX32 promoter 120
Mutation update for myelin protein zero-related neuropathies and the increasing role of variants causing a late-onset phenotype 120
Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis 120
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. 119
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). 119
Polymorphism analysis of the huntingtin gene in Italian families affected with Huntington disease. 118
A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathy 118
Mapping brain morphological and functional conversion patterns in predementia late-onset bvFTD 117
Isolation and characterization of a novel transcript embedded within HIRA, a gene deleted in DiGeorge syndrome. 117
Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier. 116
Von Hippel-Lindau (VHL) gene analysis in Italian families with VHL disease. 116
Enlarging clinical spectrum of FALS with TARDBP gene mutations: S393L variant in an Italian family showing phenotypic variability and relevance for genetic counselling. 116
Parental origin of chromosome 4p deletion in Wolf-Hirschhorn syndrome. 115
A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot-Marie-Tooth disease. 115
Mutational analysis of parkin gene by denaturing high performance liquid chromatography (DHPLC) in essential tremor 114
mRNA distribution in adult human brain of GRIN2B, a N-methyl-D-aspartate (NMDA) receptor subunit. 114
Neuroimaging features in C9orf72 and TARDBP double mutation with FTD phenotype. 114
Clinical and genetic characteristics of late-onset Huntington's disease 114
Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. 113
Cancer genetic counselling 113
Reliability and reproducibility of a RNA preamplification method for low-density array analysis from formalin-fixed paraffin-embedded breast cancer samples. 112
The FIG4 gene does not play a major role in causing ALS in Italian patients. 112
Genetic analysis of Huntington disease in Italy. 112
HFE p.H63D polymorphism does not influence ALS phenotype and survival 111
CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients 111
Predictive testing for Huntington's disease: ten years' experience in two Italian centres 110
Contribution of copy number variations in CMT1X: a retrospective study. 110
Genetic factors and systemic sclerosis 110
Family and molecular data for a fine analysis of age at onset in Huntington disease 107
Bilateral motor and premotor cortex hypometabolism in a case of Mills syndrome 107
De novo duplication in Charcot-Marie Tooth type 1A. 106
Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise" 106
A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis? 106
Forensic applications of molecular genetic analysis: An Italian collaborative study on paternity testing by the determination of variable number of tandem repeat DNA polymorphisms 105
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene 105
CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion. 104
Totale 12.953
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Categoria #
all - tutte 57.075
article - articoli 56.249
book - libri 0
conference - conferenze 826
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 114.150
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20203.596 0 0 0 0 0 537 800 374 480 745 494 166
2020/20211.571 144 133 166 171 95 110 150 118 114 168 101 101
2021/20222.034 66 136 232 217 74 113 146 453 77 175 94 251
2022/20232.139 208 202 24 212 328 351 50 163 341 27 200 33
2023/20241.445 73 133 61 178 93 304 92 97 73 66 95 180
2024/20251.685 141 260 123 295 475 391 0 0 0 0 0 0
Totale 18.727