Lista de obras - Paola Mandich - Dominio Público Uruguay

A 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) loci

scientific article published on 01 March 2002

A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family

artículo científico publicado en 2012

A putative regulatory subunit (NR3A) of the NMDA receptor complex as candidate gene for susceptibility to schizophrenia: a case-control study

artículo científico publicado en 2007

Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression

scientific article published on 28 May 2013

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis

artículo científico publicado en 2021

C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population

artículo científico publicado en 2012

Clinical and genetic characteristics of late-onset Huntington's disease

artículo científico publicado en 2018

Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.

artículo científico publicado en 2012

Clinical epidemiology of ALS in Liguria, Italy

artículo científico publicado en 2012

Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies

artículo científico publicado en 2009

Currarino syndrome with pelvic neuroendocrine tumor diagnosed by post-mortem genetic analysis of tissue specimens

scientific article published on 13 September 2011

Different consequences of EGR2 mutants on the transactivation of human Cx32 promoter.

artículo científico publicado en 2003

Does parkin play a role in the peripheral nervous system? A family report

artículo científico publicado en 2004

Enlarging clinical spectrum of FALS with TARDBP gene mutations: S393L variant in an Italian family showing phenotypic variability and relevance for genetic counselling

artículo científico publicado en 2010

Enlarging the clinical spectrum associated with C9orf 72 repeat expansions: findings in an Italian cohort of patients with parkinsonian syndromes and relevance for genetic counselling

artículo científico publicado en 2013

Essential tremor is not associated with alpha-synuclein gene haplotypes

scientific article published on 01 July 2003

Fast course ALS presenting with vocal cord paralysis: clinical features, bioinformatic and modelling analysis of the novel SOD1 Gly147Ser mutation

artículo científico publicado en 2011

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

artículo científico publicado en 2012

Friedreich's ataxia: a new mutation in two compound heterozygous siblings with unusual clinical onset

scientific article published on 31 January 2009

Gain of glycosylation: a new pathomechanism of myelin protein zero mutations.

artículo científico publicado en 2012

Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease

scientific article published on 01 April 2008

Germline mutations in the von Hippel-Lindau gene in Italian patients.

artículo científico publicado en 2009

HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients

artículo científico publicado en 2011

Heterozygous D90A-SOD1 mutation in an Italian ALS patient with atypical presentation

article

Juvenile renal cell carcinoma as first manifestation of von Hippel-Lindau disease.

artículo científico publicado en 2004

Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes

artículo científico publicado en 2014

Mutational analysis of parkin gene by denaturing high-performance liquid chromatography (DHPLC) in essential tremor.

artículo científico publicado en 2004

No evidence of association between BDNF gene variants and age-at-onset of Huntington's disease

artículo científico publicado en 2006

Quantitative fluorescence-polymerase chain reaction assay for the detection of the duplication of the Charcot Marie Tooth disease type 1A critical region

artículo científico publicado en 2010

Recommendations for pre-symptomatic genetic testing for hereditary transthyretin amyloidosis in the era of effective therapy: a multicenter Italian consensus

artículo científico publicado en 2020

Reliability and reproducibility of a RNA preamplification method for low-density array analysis from formalin-fixed paraffin-embedded breast cancer samples.

artículo científico

Search for mutations in the EGR2 corepressor proteins, NAB1 and NAB2, in human peripheral neuropathies

artículo científico publicado en 2002

Severe neuropathy after diphtheria-tetanus-pertussis vaccination in a child carrying a novel frame-shift mutation in the small heat-shock protein 27 gene

artículo científico publicado en 2009

Sonography of the median nerve in Charcot-Marie-Tooth disease

scientific article published on 01 June 2002

T137A variant is a pathogenetic SOD1 mutation associated with a slowly progressive ALS phenotype

scientific article published on 01 June 2012

The FIG4 gene does not play a major role in causing ALS in Italian patients

article

Three novel mutations in the von Hippel-Lindau tumour suppressor gene in Italian patients ⬇️

artículo científico publicado el 1 de enero de 1998

Triplet repeat primed PCR (TP PCR) in molecular diagnostic testing for Friedreich ataxia.

artículo científico publicado en 2004

Two families with novel PMP22 point mutations: genotype-phenotype correlation

scientific article published on 01 September 2009

Von Hippel-Lindau (VHL) Gene Analysis in Italian Families with VHL Disease ⬇️

artículo científico publicado el 1 de enero de 1997

mRNA distribution in adult human brain of GRIN2B, a N-methyl-d-aspartate (NMDA) receptor subunit ⬇️

artículo científico publicado el 12 de diciembre de 1997

Lista de obras de Paola Mandich

A 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) loci

A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family

A putative regulatory subunit (NR3A) of the NMDA receptor complex as candidate gene for susceptibility to schizophrenia: a case-control study

Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis

C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population

Clinical and genetic characteristics of late-onset Huntington's disease

Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.

Clinical epidemiology of ALS in Liguria, Italy

Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies

Currarino syndrome with pelvic neuroendocrine tumor diagnosed by post-mortem genetic analysis of tissue specimens

Different consequences of EGR2 mutants on the transactivation of human Cx32 promoter.

Does parkin play a role in the peripheral nervous system? A family report

Enlarging clinical spectrum of FALS with TARDBP gene mutations: S393L variant in an Italian family showing phenotypic variability and relevance for genetic counselling

Enlarging the clinical spectrum associated with C9orf 72 repeat expansions: findings in an Italian cohort of patients with parkinsonian syndromes and relevance for genetic counselling

Essential tremor is not associated with alpha-synuclein gene haplotypes

Fast course ALS presenting with vocal cord paralysis: clinical features, bioinformatic and modelling analysis of the novel SOD1 Gly147Ser mutation

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

Friedreich's ataxia: a new mutation in two compound heterozygous siblings with unusual clinical onset

Gain of glycosylation: a new pathomechanism of myelin protein zero mutations.

Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease

Germline mutations in the von Hippel-Lindau gene in Italian patients.

HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients

Heterozygous D90A-SOD1 mutation in an Italian ALS patient with atypical presentation

Juvenile renal cell carcinoma as first manifestation of von Hippel-Lindau disease.

Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes

Mutational analysis of parkin gene by denaturing high-performance liquid chromatography (DHPLC) in essential tremor.

No evidence of association between BDNF gene variants and age-at-onset of Huntington's disease

Quantitative fluorescence-polymerase chain reaction assay for the detection of the duplication of the Charcot Marie Tooth disease type 1A critical region

Recommendations for pre-symptomatic genetic testing for hereditary transthyretin amyloidosis in the era of effective therapy: a multicenter Italian consensus

Reliability and reproducibility of a RNA preamplification method for low-density array analysis from formalin-fixed paraffin-embedded breast cancer samples.

Search for mutations in the EGR2 corepressor proteins, NAB1 and NAB2, in human peripheral neuropathies

Severe neuropathy after diphtheria-tetanus-pertussis vaccination in a child carrying a novel frame-shift mutation in the small heat-shock protein 27 gene

Sonography of the median nerve in Charcot-Marie-Tooth disease

T137A variant is a pathogenetic SOD1 mutation associated with a slowly progressive ALS phenotype

The FIG4 gene does not play a major role in causing ALS in Italian patients

Three novel mutations in the von Hippel-Lindau tumour suppressor gene in Italian patients ⬇️

Triplet repeat primed PCR (TP PCR) in molecular diagnostic testing for Friedreich ataxia.

Two families with novel PMP22 point mutations: genotype-phenotype correlation

Von Hippel-Lindau (VHL) Gene Analysis in Italian Families with VHL Disease ⬇️

mRNA distribution in adult human brain of GRIN2B, a N-methyl-d-aspartate (NMDA) receptor subunit ⬇️