CNR Institutional Research Information System

CAVALCANTI, FRANCESCA
 Distribuzione geografica
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Continente #
EU - Europa 29
AS - Asia 9
AF - Africa 2
NA - Nord America 1
Totale 41
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Nazione #
IT - Italia 24
CN - Cina 5
KR - Corea 4
NL - Olanda 4
ZW - Zimbabwe 2
AT - Austria 1
US - Stati Uniti d'America 1
Totale 41
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Città #
Genoa 12
Barcellona Pozzo di Gotto 8
Amsterdam 4
Seoul 4
Harare 2
Avellino 1
Livorno 1
Los Angeles 1
Pisa 1
Vienna 1
Totale 35
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Nome #
Linkage disequilibrium between FD1-D9S202 haplotypes and the Friedreich's ataxia locus in a central-southern Italian population 9
Isolation of a new gene in the Friedreich ataxia candidate region on human chromosome 9 by cDNA direct selection 9
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease 8
Relation between trinucleotide GAA repeat length and sensory neuropathy in Friedreich's ataxia 6
Determinants of onset age in Friedreich's ataxia 5
A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3 4
Parental gender, age at birth and expansion length influence GAA repeat intergenerational instability in the X25 gene: pedigree studies and analysis of sperm from patients with Friedreich's ataxia 4
Frataxin fracas 4
Targeted next-generation sequencing revealed a new mutation in GLRA1 gene in a family with Hereditary Hyperekplexia 3
Genetics of Parkinson's disease: the role of Copy Number Variations", Chapter book for the "Parkinson's Disease 2
CLINICAL AND GENETIC-HETEROGENEITY IN EARLY ONSET CEREBELLAR-ATAXIA WITH RETAINED TENDON REFLEXES 1
Rare variants detected by Next Generation Sequencing in two siblings affected by late onset Parkinson's disease 1
Linkage disequilibrium analysis of Friedreich's ataxia in 140 Caucasian families: Positioning of the disease locus and evaluation of allelic heterogeneity 1
HOMOZYGOUS R596G VARIANT IN TRIM32 GENE RELATED TO LGMD IN A NON-HUTTERITE PATIENT 1
Depression and Parkinson's disease 1
Mutations in PRRT2 result in familial infantile seizures with heterogeneous phenotypes including febrile convulsions and probable SUDEP. 1
Genomics landscape of mitochondrial DNA variations in patients from South Italy affected by mitochondriopathies 1
A new mutation detected by NGS in MT-ATP6 gene associated with MELAS and in silico 3D protein analysis 1
Fast and accurate SNVs and CNVs screening in Parkinson's Disease patients using Next-Generation approach 1
Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion. 1
Targeted Next Generation Sequencing is a valuable diagnostic tool for Inherited Peripheral Neuropathies 1
Totale 65
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Categoria #
all - tutte 822
article - articoli 678
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 12
Totale 1.512
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2023/202465 0 0 0 0 0 0 0 0 52 0 12 1
Totale 65