CNR Institutional Research Information System

MAZZEI, ROSALUCIA
 Distribuzione geografica
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Continente #
EU - Europa 37
AS - Asia 33
NA - Nord America 5
Totale 75
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Nazione #
IT - Italia 33
SG - Singapore 19
CN - Cina 9
KR - Corea 5
US - Stati Uniti d'America 5
NL - Olanda 2
AT - Austria 1
SE - Svezia 1
Totale 75
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Città #
Singapore 16
Naples 7
Boardman 5
Seoul 5
Rende 4
Amsterdam 2
Caltanissetta 2
Canelli 2
Capaccio 2
Guangzhou 2
Limbiate 2
Cittaducale 1
Montesilvano Marina 1
Pontedera 1
Treviso 1
Valenza 1
Vienna 1
Totale 55
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Nome #
Horizontal Gaze Palsy With Progressive Scoliosis: Two Novel ROBO3 Mutations in a Compound Heterozygous Sporadic Case. 9
Plants in Menstrual Diseases: A Systematic Study from Italian Folk Medicine on Current Approaches 7
Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis 5
Case Conference 2023 "SuperscienceMe - Researchers at School activities" 4
A novel locus for Autosomal Dominant Distal Motor Neuronopathy maps to chromosome 4q-ter 3
Comparison of different techniques for detecting 17p12 duplication in CMT1A. 2
A longitudinal evaluation of cadasil progression by diffusion magnetic resonance imaging. 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 CLN1 gene in a patient with juvenile neuronal ceroid lipofuscinosis 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
Genomic analysis identifies a new EIF2B3 gene variant detected in an uncertain case of CADASIL disease 1
Exome sequencing reveals two FA2H mutations in a family with a complicated form of Hereditary Spastic Paraplegia and psychiatric impairments 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
The role of mri in the NOTCH3 gene screening of apparently sporadic CADASIL 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
XbaI -RFLP of Apo B gene in a sample group from South Italy 1
Gene symbol: NOTCH3. Disease: CADASIL. 1
Exome sequencing reveals two FA2H mutations in a non-consanguineous Italian family 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
Horizontal gaze palsy with progressive scoliosis: two novel ROBO3 mutations in a compound heterozygous sporadic case 1
AUTOSOMAL DOMINANT BROWN-VIALETTO-VAN LAERE SYNDROME WITH UBQLN1 MUTATION 1
Horizontal gaze palsy with progressive scoliosis: two novel ROBO3 mutations in a compound heterozygous sporadic case 1
A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3. 1
Screening of genes causing Huntington disease like phenotype. 1
Autosomal dominant distal motor neuropathy: an Italian family not linked to known loci 1
Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia 1
A novel Notch3 gene mutation in a patient with CADASIL from Southern Italy 1
Cinque nuove mutazioni nel gene Cx32 rivelate mediante DHPLC. 1
Nuove Mutazioni Del Gene Mecp2 Identificate In Pazienti Affetti Da Sindrome Di Rett Provenienti Dall italia Meridionale 1
A novel SOD1 mutation in a patient with Brachial Amyotrophic Diplegia 1
Eight novel mutations revealed by DHPLC analysis of the neurofibromatosis type 1 (NF1) gene in southern Italian NF1 patients 1
Autosomal Dominant Distal Motor Neuropathy: an Italian family not linked to known loci 1
Diagnosis of haploid and triploid based on measurement of gene copy number in CMT and HNPP 1
Gene conversion events in adult-onset spinal muscular atrophy. 1
Totale 81
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Categoria #
all - tutte 2.967
article - articoli 1.344
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 4.311
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2023/202443 0 0 0 0 0 0 0 0 8 5 16 14
2024/202538 34 4 0 0 0 0 0 0 0 0 0 0
Totale 81