CNR Institutional Research Information System

CONFORTI, FRANCESCA LUISA
 Distribuzione geografica
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Continente #
AS - Asia 21
EU - Europa 18
NA - Nord America 3
Totale 42
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Nazione #
IT - Italia 15
CN - Cina 13
KR - Corea 7
US - Stati Uniti d'America 3
NL - Olanda 2
SE - Svezia 1
SG - Singapore 1
Totale 42
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Città #
Seoul 7
Naples 4
Boardman 3
Amsterdam 2
Canelli 2
Capaccio 2
Guangzhou 2
Limbiate 2
Cittaducale 1
Novara 1
Pontedera 1
Rende 1
Singapore 1
Totale 29
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Nome #
Comparison of different techniques for detecting 17p12 duplication in CMT1A. 2
Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia 2
A CLINICAL AND MOLECULAR STUDY IN A CHILD UNDER 1 YEAR OF AGE AFFECTED BY NEUROFIBROMATOSIS TYPE 2 2
A novel NOTCH3 gene mutation in a patient with CADASIL from Southern Italy 2
A novel Notch3 gene mutation not involving a cysteine residue in an Italian family with CADASIL. 2
NOTCH3 PROTEIN LOCALIZATION IN SKIN FIBROBLASTS FROM CADASIL PATIENTS : AN IMMUNOFLUORESCENCE MICROSCOPY STUDY 2
A novel mutation in the Notch3 gene in an Italian family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: genetic and magnetic resonance spectroscopic findings. 2
A novel KIF5A mutation in an Italian family marked by spastic paraparesis and congenital deafness 2
Gene Symbol: MECP2. Disease: Rett Syndrome. 1
TARDBP gene mutations in south Italian patients with amyotrophic lateral sclerosis. 1
Clinical and genetic study of an Italian family linked to SPG26 locus 1
A Clinical And Molecular Study In Children Under 1 Year Of Age Affected By Neurofibromatosis Type 2 1
A new insertion of CC in exon 4 of PMP22 gene in a patient with Ereditary Neuropathy with Liability to Pressure Palsies (HNPP) 1
A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1. 1
A NOVEL MUTATION IN CX32 IDENTIFIED IN A PATIENT WITH DEMYELINATING SENSORY-MOTOR NEUROPATHY AND SECONDARY AXONOPATHY 1
Extended polymorphic and mutational analysis of the NOTCH3 gene in patients affected by leukoencephalopathy 1
A novel SPG3A mutation in an Italian patient with Hereditary Spastic Paraplegia 1
A simple method for diagnosis of autosomal recessive spinal muscular atrophy by denaturing high-performance liquid chromatography 1
A novel nucleotide change in the intron 12 of the SPAST gene might produce an aberrant protein transcript 1
A novel Notch3 gene mutation not involving a cysteine residue in an Italian family with CADASIL 1
AUTOSOMAL DOMINANT BROWN-VIALETTO-VAN LAERE SYNDROME WITH UBQLN1 MUTATION 1
A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3. 1
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene 1
Analysis of the (CAG)n repeat at the IT15 locus in a population from Calabria (southern Italy). 1
Autosomal dominant distal motor neuropathy: an Italian family not linked to known loci 1
Analisi Genetica e Clinica in 5 famiglie con espansione nucleotidica CAG del gene SCA1 1
A novel Notch3 gene mutation in a patient with CADASIL from Southern Italy 1
RAPID IDENTIFICATION OF PATHOGENIC VARIANTS IN NEUROFIBROMATOSIS DISEASE BY GENE-PANEL SEQUENCING. 1
A novel locus for Autosomal Dominant Distal Motor Neuronopathy maps to chromosome 4q-ter 1
A simple and rapid nonisotopic method for sizing CAG repeats in the SCA1 gene. 1
Molecular taxonomy: use of transcriptional profiles to identify different ALS subtypes 1
Autosomal Dominant Distal Motor Neuropathy: an Italian family not linked to known loci 1
ALS and CHARGE syndrome: a clinical and genetic study 1
Gene conversion events in adult-onset spinal muscular atrophy. 1
Totale 42
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Categoria #
all - tutte 2.537
article - articoli 1.134
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 9
Totale 3.680
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2023/202440 0 0 0 0 0 0 0 0 8 0 22 10
2024/20252 2 0 0 0 0 0 0 0 0 0 0 0
Totale 42