IRIS
AJMAR, FRANCO
 Distribuzione geografica
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Continente #
EU - Europa 5.390
AS - Asia 34
SA - Sud America 12
Totale 5.436
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Nazione #
IT - Italia 5.388
CN - Cina 18
SG - Singapore 12
BR - Brasile 10
VN - Vietnam 4
AL - Albania 1
EC - Ecuador 1
UA - Ucraina 1
UY - Uruguay 1
Totale 5.436
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Città #
Genova 3.482
Genoa 1.169
Rapallo 449
Vado Ligure 285
Beijing 12
Bordighera 3
Ho Chi Minh City 3
Bagé 1
Barueri 1
Caucaia 1
Criciúma 1
Curitiba 1
Erechim 1
Guayaquil 1
Haiphong 1
Khmelnytskyi 1
Korçë 1
Montevideo 1
Nantong 1
Recife 1
Registro 1
São Paulo 1
Várzea Paulista 1
Totale 5.419
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Nome #
17p11.2 duplication is a common finding in sporadic cases of charcot-marie-tooth type 1 206
Does parkin play a role in the peripheral nervous system? A family report 182
A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease. 180
Analysis of the trinucleotide repeat expansion in Italian families affected with Huntington disease 178
A novel mutation of GDAP1 associated with Charcot-Marie-Tooth disease in three Italian families: evidence for a founder effect 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. 170
Ten novel mutations in the human neurofibromatosis type 1 (NF1) gene in Italian patients 166
Clinical and genetic study of essential tremor in the Italian population. 164
An abnormal mRNA produced by a novel PMP22 splice site mutation associated with HNPP 164
Autosomal dominant polycystic kidney disease: a linkage evaluation of heterogeneity in Italy. Italian Collaborative Group on Polycystic Kidney Disease. 160
Underexpression of messenger RNA for peripheral myelin protein 22 in hereditary neuropathy with liability to pressure palsies 157
Mapping of the human NMDAR2B receptor subunit gene (GRIN2B) to chromosome 12p12. 154
Progressive sensory-motor polyneuropathy with tomaculous changes is associated to 17p11.2 deletion. 144
Corticobasal degeneration shares a common genetic background with progressive supranuclear palsy 143
Molecular diagnosis of hereditary neuropathy with liability to pressure palsies (HNPP) by detection of 17p11.2 deletion in Italian patients. 141
Essential tremor is not associated with alpha-synuclein gene haplotypes 137
Variant Philadelphia translocations in CML: correlation with fragile sites. 137
De novo duplication in Charcot-Marie Tooth type 1A. 131
Molecular analysis of the IT15 gene in patients with apparently 'sporadic' Huntington's disease. 130
Charcot-Marie-Tooth disease: evidence of a duplication at D17S122 locus. 129
Parental origin of chromosome 4p deletion in Wolf-Hirschhorn syndrome. 127
[Specific enzymatic amplification of a DNA region closely associated with Huntington chorea]. 125
Adult polycystic kidney disease: prenatal diagnosis with DNA polymorphic markers. 124
Polymorphism analysis of the huntingtin gene in Italian families affected with Huntington disease. 123
Von Hippel-Lindau (VHL) gene analysis in Italian families with VHL disease. 123
Mutational analysis of parkin gene by denaturing high performance liquid chromatography (DHPLC) in essential tremor 122
Genetic analysis of Huntington disease in Italy. 121
A novel mutation of myelin protein zero associated with an axonal form of Charcot-Marie-Tooth disease 120
The Genoa experience of prenatal diagnosis in NF1 120
DNA marker analysis of adult polycystic kidney disease in Italian families. Italian Cooperative Group on ADPKD. 117
Congenital hypomyelination (CH) due to myelin protein zero (P0) Q215X mutation 110
Comments on Davar et al., Pain, 67 (1996) 135-139. 107
Molecular analysis of three cases with hereditary motor and sensory neuropathy with myelin outfolding 105
Exclusion of the ninjurin gene as a candidate for hereditary sensory neuropathies type I and type II 105
Correlation between PMP-22 messenger RNA expression and phenotype in hereditary neuropathy with liability to pressure palsies 104
Identification of a 4 bp (1560del4) in P0 gene in a family with severe Charcot-Marie-Tooth disease. 102
Non-random association between DNA markers and Huntington disease locus in the Italian population. 98
Multifocal bilateral renal cell carcinoma and retinal angiomas in a patient with de novo von Hippel-Lindau disease: identification of a new germline mutation 90
No evidence of association between CAG expansions and essential tremor in a large cohort of Italian patient 87
Polymerase chain reaction (PCR) amplification of hypervariable genomic sequences. 61
Corticobasal degeneration shares a common genetic background with progressive supranuclear palsy 56
Opinion about genetic information, prenatal diagnosis and pregnancy termination; Analysis in a sample of Italian women 47
Totale 5.443
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Categoria #
all - tutte 16.380
article - articoli 16.380
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 32.760
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021173 0 0 0 0 8 20 44 24 27 21 13 16
2021/2022472 15 47 35 62 17 16 36 105 12 48 15 64
2022/2023541 56 75 5 53 90 86 2 53 92 2 22 5
2023/2024273 15 44 8 33 16 85 12 6 14 1 15 24
2024/2025739 22 52 20 55 79 80 67 145 34 29 69 87
2025/2026406 177 43 60 122 4 0 0 0 0 0 0 0
Totale 5.443