Lista de obras - Carmen Espinós - Dominio Público Uruguay

5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes

artículo científico publicado en 2012

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 novel locus for a hereditary recurrent neuropathy on chromosome 21q21.

artículo científico publicado en 2014

Ala397Asp mutation of myosin VIIA gene segregating in a Spanish family with type-Ib Usher syndrome

artículo científico publicado en 1998

Ancient origin of the CAG expansion causing Huntington disease in a Spanish population.

artículo científico publicado en 2005

Ancient origin of the CTH alelle carrying the c.200C>T (p.T67I) variant in patients with cystathioninuria

artículo científico publicado en 2010

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

Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency.

artículo científico publicado en 2014

Audiological Findings in Charcot-Marie-Tooth Disease Type 4C.

artículo científico publicado en 2017

Autosomal recessive Charcot-Marie-Tooth neuropathy

artículo científico

Autosomal recessive cerebellar ataxias

artículo científico publicado en 2006

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

artículo científico publicado en 2020

Cerebellar ataxia with coenzyme Q10 deficiency: Diagnosis and follow-up after coenzyme Q10 supplementation

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 CoQ₁₀ biosynthesis in fibroblasts of patients with primary and secondary CoQ₁₀ deficiency

artículo científico publicado en 2013

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

artículo científico publicado en 2019

Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series

artículo científico publicado en 2013

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

Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency.

artículo científico publicado en 2013

Coenzyme Q10-responsive ataxia: 2-year-treatment follow-up

artículo científico publicado en 2010

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

Detection of a novel Cys628STOP mutation of the myosin VIIA gene in Usher syndrome type Ib

article

Diagnosis of two related carriers of severe haemophilia B with no family history

artículo científico publicado en 2000

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

Epidemiology of Usher Syndrome in Valencia and Spain

article

Evolutionary History of the Smyd Gene Family in Metazoans: A Framework to Identify the Orthologs of Human Smyd Genes in Drosophila and Other Animal Species

artículo científico publicado en 2015

Generation of a human iPSC line from a patient with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) caused by mutation in SACSIN gene

artículo científico publicado en 2018

Generation of human induced pluripotent stem cell (iPSC) line from an unaffected female carrier of mutation in SACSIN gene

article

Genetic analyses of celiac disease in a Spanish population confirm association with CELIAC3 but not with CELIAC4

article

Genetics and pathogenesis of inherited ataxias and spastic paraplegias

artículo científico publicado en 2009

Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect

artículo científico publicado en 2005

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

artículo científico publicado en 2020

Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth

artículo científico publicado en 2012

Identification of three novel mutations in the MYO7A gene.

artículo científico publicado en 1999

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

artículo científico publicado en 2014

Linkage analysis in Usher syndrome type I (USH1) families from Spain ⬇️

artículo científico publicado el 1 de mayo de 1998

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

Mitochondrial Dysfunction, Oxidative Stress and Neuroinflammation in Neurodegeneration with Brain Iron Accumulation (NBIA)

artículo científico publicado en 2020

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

artículo científico publicado en 2017

Molecular diagnosis of coenzyme Q10 deficiency.

artículo científico

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

Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias

artículo científico publicado en 2022

New insights into the genetics of 5-oxoprolinase deficiency and further evidence that it is a benign biochemical condition

article

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

Phenotypical features of a new dominant GDAP1 pathogenic variant (p.R226del) in axonal Charcot-Marie-Tooth disease

artículo científico publicado en 2017

Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot-Marie-Tooth disease

artículo científico publicado en 2010

Plasma metabolome and skin proteins in Charcot-Marie-Tooth 1A patients

artículo científico publicado en 2017

Polymorphism of Alcohol Dehydrogenase Genes in Alcoholic and Nonalcoholic Individuals from Valencia (Spain)

article

Prevalence of 2314delG mutation in Spanish patients with Usher syndrome type II (USH2).

artículo científico publicado en 2000

Q1311X: a novel nonsense mutation of putative ancient origin in the von Willebrand factor gene

artículo científico publicado en 2000

Search for mutations in a segment of the exon 28 of the human von Willebrand factor gene: new mutations, R1315C and R1341W, associated with type 2M and 2B variants.

artículo científico publicado en 1998

Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders.

artículo científico publicado en 2016

Severe and moderate hemophilia A: identification of 38 new genetic alterations

artículo científico publicado en 2008

Sh3tc2 deficiency affects neuregulin-1/ErbB signaling

scientific journal article

Significant linkage and non-linkage of type 1 von Willebrand disease to the von Willebrand factor gene

article

Spanish MYH7 founder mutation of Italian ancestry causing a large cluster of Laing myopathy patients.

artículo científico publicado en 2011

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

artículo científico publicado en 2017

The Drosophila junctophilin gene is functionally equivalent to its four mammalian counterparts and is a modifier of a Huntingtin poly-Q expansion and the Notch pathway

artículo científico publicado en 2017

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

artículo científico publicado en 2015

The USH2A c.2299delG mutation: dating its common origin in a Southern European population

artículo científico publicado en 2010

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

Vestibular impairment in Charcot-Marie-Tooth disease type 4C.

artículo científico publicado en 2014

Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy

artículo científico publicado en 2008

Lista de obras de Carmen Espinós

5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes

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 novel locus for a hereditary recurrent neuropathy on chromosome 21q21.

Ala397Asp mutation of myosin VIIA gene segregating in a Spanish family with type-Ib Usher syndrome

Ancient origin of the CAG expansion causing Huntington disease in a Spanish population.

Ancient origin of the CTH alelle carrying the c.200C>T (p.T67I) variant in patients with cystathioninuria

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

Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency.

Audiological Findings in Charcot-Marie-Tooth Disease Type 4C.

Autosomal recessive Charcot-Marie-Tooth neuropathy

Autosomal recessive cerebellar ataxias

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

Cerebellar ataxia with coenzyme Q10 deficiency: Diagnosis and follow-up after coenzyme Q10 supplementation

Chaperonopathies: Spotlight on Hereditary Motor Neuropathies

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

Characterization of CoQ₁₀ biosynthesis in fibroblasts of patients with primary and secondary CoQ₁₀ deficiency

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

Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series

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

Clinical spectrum of BICD2 mutations

Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency.

Coenzyme Q10-responsive ataxia: 2-year-treatment follow-up

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

Detection of a novel Cys628STOP mutation of the myosin VIIA gene in Usher syndrome type Ib

Diagnosis of two related carriers of severe haemophilia B with no family history

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

Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

Epidemiology of Usher Syndrome in Valencia and Spain

Evolutionary History of the Smyd Gene Family in Metazoans: A Framework to Identify the Orthologs of Human Smyd Genes in Drosophila and Other Animal Species

Generation of a human iPSC line from a patient with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) caused by mutation in SACSIN gene

Generation of human induced pluripotent stem cell (iPSC) line from an unaffected female carrier of mutation in SACSIN gene

Genetic analyses of celiac disease in a Spanish population confirm association with CELIAC3 but not with CELIAC4

Genetics and pathogenesis of inherited ataxias and spastic paraplegias

Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect

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

Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth

Identification of three novel mutations in the MYO7A gene.

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

Linkage analysis in Usher syndrome type I (USH1) families from Spain ⬇️

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

Mitochondrial Dysfunction, Oxidative Stress and Neuroinflammation in Neurodegeneration with Brain Iron Accumulation (NBIA)

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

Molecular diagnosis of coenzyme Q10 deficiency.

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

Mutations in the urocanase gene UROC1 are associated with urocanic aciduria

Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias

New insights into the genetics of 5-oxoprolinase deficiency and further evidence that it is a benign biochemical condition

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.

Phenotypical features of a new dominant GDAP1 pathogenic variant (p.R226del) in axonal Charcot-Marie-Tooth disease

Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot-Marie-Tooth disease

Plasma metabolome and skin proteins in Charcot-Marie-Tooth 1A patients

Polymorphism of Alcohol Dehydrogenase Genes in Alcoholic and Nonalcoholic Individuals from Valencia (Spain)

Prevalence of 2314delG mutation in Spanish patients with Usher syndrome type II (USH2).

Q1311X: a novel nonsense mutation of putative ancient origin in the von Willebrand factor gene

Search for mutations in a segment of the exon 28 of the human von Willebrand factor gene: new mutations, R1315C and R1341W, associated with type 2M and 2B variants.

Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders.

Severe and moderate hemophilia A: identification of 38 new genetic alterations

Sh3tc2 deficiency affects neuregulin-1/ErbB signaling

Significant linkage and non-linkage of type 1 von Willebrand disease to the von Willebrand factor gene

Spanish MYH7 founder mutation of Italian ancestry causing a large cluster of Laing myopathy patients.

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

The Drosophila junctophilin gene is functionally equivalent to its four mammalian counterparts and is a modifier of a Huntingtin poly-Q expansion and the Notch pathway

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

The USH2A c.2299delG mutation: dating its common origin in a Southern European population

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

Vestibular impairment in Charcot-Marie-Tooth disease type 4C.

Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy