CNR Institutional Research Information System

MUGLIA, MARIA
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
AS - Asia 25
EU - Europa 14
NA - Nord America 3
Totale 42
Salva come PNG Salva come JPEG
Nazione #
CN - Cina 13
IT - Italia 13
KR - Corea 11
US - Stati Uniti d'America 3
NL - Olanda 1
SG - Singapore 1
Totale 42
Salva come PNG Salva come JPEG
Città #
Seoul 11
Boardman 3
Canelli 2
Capaccio 2
Guangzhou 2
Limbiate 2
Naples 2
Amsterdam 1
Cittaducale 1
Pontedera 1
Rende 1
Singapore 1
Totale 29
Salva come PNG Salva come JPEG
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 founder mutation in the MFN2 gene associated with variable Charcot-Marie-Tooth type 2 phenotype in two families 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 KIF5A mutation in an Italian family marked by spastic paraparesis and congenital deafness 2
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
Alpha-thalassemia in a southern Italian population (detection by a non-radioactive procedure). 1
A Clinical And Molecular Study In Children Under 1 Year Of Age Affected By Neurofibromatosis Type 2 1
Rare variants detected by Next Generation Sequencing in two siblings affected by late onset Parkinson's disease 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
A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3. 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
A novel Notch3 gene mutation in a patient with CADASIL from Southern Italy 1
: Studies on four restriction fragment length polymprphisms of the type I collagen genes in two Italian populations 1
Fast and accurate SNVs and CNVs screening in Parkinson's Disease patients using Next-Generation approach 1
Targeted Next Generation Sequencing is a valuable diagnostic tool for Inherited Peripheral Neuropathies 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
Autosomal Dominant Distal Motor Neuropathy: an Italian family not linked to known loci 1
ALS and CHARGE syndrome: a clinical and genetic study 1
A 71-nucleotide Deletion in the Periaxin Gene in an Italian Patient With Late-Onset Slowly Progressive Demyelinating CMT 1
Gene conversion events in adult-onset spinal muscular atrophy. 1
Totale 42
Salva come PNG Salva come JPEG
Categoria #
all - tutte 2.234
article - articoli 1.028
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 3.262
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2023/202442 0 0 0 0 0 0 0 0 5 0 27 10
Totale 42