about
Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathiesSearch for mutations in the EGR2 corepressor proteins, NAB1 and NAB2, in human peripheral neuropathies.Different consequences of EGR2 mutants on the transactivation of human Cx32 promoter.Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.Triplet repeat primed PCR (TP PCR) in molecular diagnostic testing for Friedreich ataxia.Gain of glycosylation: a new pathomechanism of myelin protein zero mutations.C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population.Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression.Reliability and reproducibility of a RNA preamplification method for low-density array analysis from formalin-fixed paraffin-embedded breast cancer samples.No evidence of association between BDNF gene variants and age-at-onset of Huntington's disease.Germline mutations in the von Hippel-Lindau gene in Italian patients.Juvenile renal cell carcinoma as first manifestation of von Hippel-Lindau disease.A putative regulatory subunit (NR3A) of the NMDA receptor complex as candidate gene for susceptibility to schizophrenia: a case-control study.Clinical epidemiology of ALS in Liguria, Italy.Mutational analysis of parkin gene by denaturing high-performance liquid chromatography (DHPLC) in essential tremor.HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients.Quantitative fluorescence-polymerase chain reaction assay for the detection of the duplication of the Charcot Marie Tooth disease type 1A critical region.Heterozygous D90A-SOD1 mutation in an Italian ALS patient with atypical presentationThe FIG4 gene does not play a major role in causing ALS in Italian patientsT137A variant is a pathogenetic SOD1 mutation associated with a slowly progressive ALS phenotypeDoes parkin play a role in the peripheral nervous system? A family reportEssential tremor is not associated with alpha-synuclein gene haplotypesSonography of the median nerve in Charcot-Marie-Tooth diseaseA 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) lociGap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth diseaseFriedreich's ataxia: a new mutation in two compound heterozygous siblings with unusual clinical onsetEnlarging clinical spectrum of FALS with TARDBP gene mutations: S393L variant in an Italian family showing phenotypic variability and relevance for genetic counsellingTwo families with novel PMP22 point mutations: genotype-phenotype correlationCurrarino syndrome with pelvic neuroendocrine tumor diagnosed by post-mortem genetic analysis of tissue specimensA novel autosomal dominant GDAP1 mutation in an Italian CMT2 family
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P50
description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Paola Mandich
@ast
Paola Mandich
@en
Paola Mandich
@es
Paola Mandich
@nl
Paola Mandich
@sl
type
label
Paola Mandich
@ast
Paola Mandich
@en
Paola Mandich
@es
Paola Mandich
@nl
Paola Mandich
@sl
prefLabel
Paola Mandich
@ast
Paola Mandich
@en
Paola Mandich
@es
Paola Mandich
@nl
Paola Mandich
@sl
P106
P21
P31
P496
0000-0003-3123-3512