IRIS
AJMAR, FRANCO
 Distribuzione geografica
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Continente #
EU - Europa 4.252
Totale 4.252
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Nazione #
IT - Italia 4.252
Totale 4.252
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Città #
Genova 3.482
Rapallo 449
Genoa 318
Bordighera 3
Totale 4.252
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Nome #
Analysis of the trinucleotide repeat expansion in Italian families affected with Huntington disease 150
Does parkin play a role in the peripheral nervous system? A family report 143
Ten novel mutations in the human neurofibromatosis type 1 (NF1) gene in Italian patients 137
A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease. 136
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. 135
Clinical and genetic study of essential tremor in the Italian population. 133
17p11.2 duplication is a common finding in sporadic cases of charcot-marie-tooth type 1 133
Mapping of the human NMDAR2B receptor subunit gene (GRIN2B) to chromosome 12p12. 132
Underexpression of messenger RNA for peripheral myelin protein 22 in hereditary neuropathy with liability to pressure palsies 132
A novel mutation of GDAP1 associated with Charcot-Marie-Tooth disease in three Italian families: evidence for a founder effect 129
Autosomal dominant polycystic kidney disease: a linkage evaluation of heterogeneity in Italy. Italian Collaborative Group on Polycystic Kidney Disease. 123
Progressive sensory-motor polyneuropathy with tomaculous changes is associated to 17p11.2 deletion. 123
Variant Philadelphia translocations in CML: correlation with fragile sites. 122
An abnormal mRNA produced by a novel PMP22 splice site mutation associated with HNPP 119
Molecular diagnosis of hereditary neuropathy with liability to pressure palsies (HNPP) by detection of 17p11.2 deletion in Italian patients. 117
Essential tremor is not associated with alpha-synuclein gene haplotypes 115
Polymorphism analysis of the huntingtin gene in Italian families affected with Huntington disease. 114
Corticobasal degeneration shares a common genetic background with progressive supranuclear palsy 114
Molecular analysis of the IT15 gene in patients with apparently 'sporadic' Huntington's disease. 111
Von Hippel-Lindau (VHL) gene analysis in Italian families with VHL disease. 110
Parental origin of chromosome 4p deletion in Wolf-Hirschhorn syndrome. 109
Mutational analysis of parkin gene by denaturing high performance liquid chromatography (DHPLC) in essential tremor 109
Genetic analysis of Huntington disease in Italy. 106
The Genoa experience of prenatal diagnosis in NF1 104
Exclusion of the ninjurin gene as a candidate for hereditary sensory neuropathies type I and type II 98
De novo duplication in Charcot-Marie Tooth type 1A. 97
Adult polycystic kidney disease: prenatal diagnosis with DNA polymorphic markers. 89
[Specific enzymatic amplification of a DNA region closely associated with Huntington chorea]. 89
Identification of a 4 bp (1560del4) in P0 gene in a family with severe Charcot-Marie-Tooth disease. 87
Non-random association between DNA markers and Huntington disease locus in the Italian population. 86
Congenital hypomyelination (CH) due to myelin protein zero (P0) Q215X mutation 85
Molecular analysis of three cases with hereditary motor and sensory neuropathy with myelin outfolding 82
DNA marker analysis of adult polycystic kidney disease in Italian families. Italian Cooperative Group on ADPKD. 81
Comments on Davar et al., Pain, 67 (1996) 135-139. 80
No evidence of association between CAG expansions and essential tremor in a large cohort of Italian patient 75
Correlation between PMP-22 messenger RNA expression and phenotype in hereditary neuropathy with liability to pressure palsies 72
A novel mutation of myelin protein zero associated with an axonal form of Charcot-Marie-Tooth disease 71
Charcot-Marie-Tooth disease: evidence of a duplication at D17S122 locus. 70
Multifocal bilateral renal cell carcinoma and retinal angiomas in a patient with de novo von Hippel-Lindau disease: identification of a new germline mutation 70
Polymerase chain reaction (PCR) amplification of hypervariable genomic sequences. 41
Opinion about genetic information, prenatal diagnosis and pregnancy termination; Analysis in a sample of Italian women 19
Corticobasal degeneration shares a common genetic background with progressive supranuclear palsy 11
Totale 4.259
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Categoria #
all - tutte 10.219
article - articoli 10.219
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 20.438
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/2019215 0 0 0 0 0 0 0 0 0 45 89 81
2019/20201.085 38 21 53 56 103 105 186 57 98 190 131 47
2020/2021363 55 22 50 63 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
2023/2024234 15 44 8 33 16 85 12 6 14 1 0 0
Totale 4.259