Lista de obras - Vincenzo Lupo - Dominio Público Uruguay

A newly distal hereditary motor neuropathy caused by a rare AIFM1 mutation.

artículo científico publicado en 2017

A novel delins mutation in the alpha-TTP gene in a family segregating ataxia with isolated vitamin E deficiency

artículo científico publicado en 2008

A very mild phenotype of Charcot-Marie-Tooth disease type 4H caused by two novel mutations in FGD4

scientific article published on 15 May 2019

Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy.

artículo científico publicado en 2016

Autosomal recessive Charcot-Marie-Tooth neuropathy

artículo científico

Bi-allelic mutations in EGR2 cause autosomal recessive demyelinating neuropathy by disrupting the EGR2-NAB complex

artículo científico publicado en 2020

Chaperonopathies: Spotlight on Hereditary Motor Neuropathies

artículo científico publicado en 2016

Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying mutations

artículo científico publicado en 2018

Characterization of molecular mechanisms underlying the axonal Charcot-Marie-Tooth neuropathy caused by MORC2 mutations

artículo científico publicado en 2019

Clinical rating scale for pantothenate kinase-associated neurodegeneration: A pilot study

artículo científico publicado en 2017

Clinical spectrum of BICD2 mutations

scientific article published on 13 February 2020

Complexity of the Hereditary Motor and Sensory Neuropathies: Clinical and Cellular Characterization of the MPZ p.D90E Mutation.

artículo científico publicado en 2015

Congenital hypomyelinating neuropathy due to a novel MPZ mutation

scientific article published on 01 December 2011

Distal hereditary motor neuropathies: mutation spectrum and genotype-phenotype correlation

artículo científico publicado en 2020

Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

artículo científico publicado en 2017

Genetics of Wilson disease and Wilson-like phenotype in a clinical series from eastern Spain

artículo científico publicado en 2020

Junctophilin-1 is a modifier gene of GDAP1-related Charcot-Marie-Tooth disease.

artículo científico publicado en 2014

Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway.

artículo científico publicado en 2009

Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension

artículo científico publicado en 2017

Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.

artículo científico publicado en 2015

Mutations in the urocanase gene UROC1 are associated with urocanic aciduria

artículo científico publicado en 2009

On the complexity of clinical and molecular bases of neurodegeneration with brain iron accumulation

artículo científico publicado en 2017

PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression

artículo científico publicado en 2018

Phenotype and natural history of inherited neuropathies caused by HSJ1 c.352+1G>A mutation.

artículo científico publicado en 2016

Sh3tc2 deficiency affects neuregulin-1/ErbB signaling

scientific journal article

Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy.

artículo científico publicado en 2017

The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease.

artículo científico publicado en 2015

The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4.

artículo científico publicado en 2007

Twin-sisters with PLA2G6-associated neurodegeneration due to paternal isodisomy of the chromosome 22 following in vitro fertilization

artículo científico publicado en 2017

Lista de obras de Vincenzo Lupo

A newly distal hereditary motor neuropathy caused by a rare AIFM1 mutation.

A novel delins mutation in the alpha-TTP gene in a family segregating ataxia with isolated vitamin E deficiency

A very mild phenotype of Charcot-Marie-Tooth disease type 4H caused by two novel mutations in FGD4

Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy.

Autosomal recessive Charcot-Marie-Tooth neuropathy

Bi-allelic mutations in EGR2 cause autosomal recessive demyelinating neuropathy by disrupting the EGR2-NAB complex

Chaperonopathies: Spotlight on Hereditary Motor Neuropathies

Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying mutations

Characterization of molecular mechanisms underlying the axonal Charcot-Marie-Tooth neuropathy caused by MORC2 mutations

Clinical rating scale for pantothenate kinase-associated neurodegeneration: A pilot study

Clinical spectrum of BICD2 mutations

Complexity of the Hereditary Motor and Sensory Neuropathies: Clinical and Cellular Characterization of the MPZ p.D90E Mutation.

Congenital hypomyelinating neuropathy due to a novel MPZ mutation

Distal hereditary motor neuropathies: mutation spectrum and genotype-phenotype correlation

Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

Genetics of Wilson disease and Wilson-like phenotype in a clinical series from eastern Spain

Junctophilin-1 is a modifier gene of GDAP1-related Charcot-Marie-Tooth disease.

Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway.

Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension

Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.

Mutations in the urocanase gene UROC1 are associated with urocanic aciduria

On the complexity of clinical and molecular bases of neurodegeneration with brain iron accumulation

PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression

Phenotype and natural history of inherited neuropathies caused by HSJ1 c.352+1G>A mutation.

Sh3tc2 deficiency affects neuregulin-1/ErbB signaling

Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy.

The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease.

The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4.

Twin-sisters with PLA2G6-associated neurodegeneration due to paternal isodisomy of the chromosome 22 following in vitro fertilization