List of works - Juan J. Vílchez

125th ENMC International Workshop: Neuromuscular Disorders in the Roma (Gypsy) Population, 23–25 April 2004, Naarden, The Netherlands

A family segregating a Friedreich ataxia phenotype that is not linked to the FRDA locus

article published in 1996

A family segregating a Friedreich ataxia phenotype that is not linked to the FRDA locus

scientific article published on 01 June 1996

A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome

scientific article published on 7 August 2011

Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

scientific article

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

scientific article published in April 2017

Autoimmunity as a prognostic factor in sporadic adult onset cerebellar ataxia

scientific article published on 08 October 2011

Autosomal recessive hereditary sensory neuropathy with spastic paraplegia

scientific article published on 01 August 1994

CNS Varicella-Zoster Vasculitis ⬇️

scientific article published on 01 December 1982

Cerebellar ataxia associated with neuroendocrine thymic carcinoma and GAD antibodies.

scientific article published in June 2009

Characterization of novel CAPN3 isoforms in white blood cells: an alternative approach for limb-girdle muscular dystrophy 2A diagnosis.

scientific article published on 19 June 2008

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

scientific article published on 27 September 2013

Chlormethiazole in the management of the opsoclonus-myoclonus syndrome.

scientific article

Circulating miR-323-3p is a biomarker for cardiomyopathy and an indicator of phenotypic variability in Friedreich's ataxia patients.

scientific article

Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes

scientific article published on 7 January 2008

Clinical and neuroimaging characterization of two C9orf72-positive siblings with amyotrophic lateral sclerosis and schizophrenia

scientific article published on 27 November 2015

Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene

scientific article published on 23 June 2003

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations

Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

scientific article published on 27 July 2017

Dysferlin expression in monocytes: A source of mRNA for mutation analysis

article

Early-onset ataxia with cardiomyopathy and retained tendon reflexes maps to the friedreich's ataxia locus on chromosome 9q

scientific article published on 01 March 1995

Generation of a disease-specific iPS cell line derived from a patient with Charcot-Marie-Tooth type 2K lacking functional GDAP1 gene.

scientific article

Guidelines for molecular diagnosis of Charcot-Marie-Tooth disease

scientific article published on 23 June 2011

Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect

scientific article

Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population.

scientific article published in August 2005

Immunoproteomic studies on paediatric opsoclonus-myoclonus associated with neuroblastoma

scientific article published on 25 May 2016

Incidence of and Risk Factors for Neurologic Complications After Heart Transplantation

scientific article published on 01 November 2005

Increased autophagy and apoptosis contribute to muscle atrophy in a myotonic dystrophy type 1 Drosophila model.

scientific article published on July 2015

Inflammatory amyloid angiopathy.

scientific article published on 11 August 2012

LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.

scientific article published on 2 February 2005

Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene.

scientific article published on 29 March 2013

MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy ⬇️

scientific article published on August 24, 2010

Migraine, patent foramen ovale and migraine triggers

scientific article

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

scientific article

Molecular characterization of congenital myasthenic syndromes in Spain.

scientific article

Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes

scientific article published on 22 October 2015

Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies

article

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

scientific article published on 24 October 2015

Netrin-1 receptor antibodies in thymoma-associated neuromyotonia with myasthenia gravis.

scientific article published in March 2017

Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy

scientific article

Origin of the de novo duplication in Charcot — Marie — Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis

scientific article published on 01 December 1993

Peripheral nerve hyperexcitability: A clinical and immunologic study of 38 patients

scientific article published on 01 January 2011

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

scientific article published on 15 April 2016

Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat

scientific article

Phenotypic heterogeneity in two large Roma families with a congenital myasthenic syndrome due to CHRNE 1267delG mutation. A long-term follow-up.

scientific article published on 15 August 2016

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

scientific article published on December 2010

Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes

scientific article published on 17 April 2007

Primary lateral sclerosis and hereditary spastic paraplegia in sporadic patients. An important distinction in descriptive studies.

scientific article

Reversible paraneoplastic limbic encephalitis associated with antibodies to the AMPA receptor

scientific article

Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3

Social handicaps of multiple sclerosis and their relation to neurological alterations

scientific article published on 01 November 1994

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

scientific article published on 11 April 2011

Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy.

scientific article published on 29 October 2016

Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort.

scientific article

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

scientific article published on 24 July 2015

The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease

scientific article (publication date: 2002)

The mutation of Transportin 3 gene that causes limb girdle muscular dystrophy 1F induces protection against HIV-1 infection

scientific article published on 29 August 2019

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

scientific article

Trunk muscle involvement in late-onset Pompe disease: Study of thirty patients

article

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

scientific article published on 10 March 2014

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

scientific article published on 23 September 2008

List of works by Juan J. Vílchez

125th ENMC International Workshop: Neuromuscular Disorders in the Roma (Gypsy) Population, 23–25 April 2004, Naarden, The Netherlands

A family segregating a Friedreich ataxia phenotype that is not linked to the FRDA locus

A family segregating a Friedreich ataxia phenotype that is not linked to the FRDA locus

A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome

Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

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

Autoimmunity as a prognostic factor in sporadic adult onset cerebellar ataxia

Autosomal recessive hereditary sensory neuropathy with spastic paraplegia

CNS Varicella-Zoster Vasculitis ⬇️

Cerebellar ataxia associated with neuroendocrine thymic carcinoma and GAD antibodies.

Characterization of novel CAPN3 isoforms in white blood cells: an alternative approach for limb-girdle muscular dystrophy 2A diagnosis.

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

Chlormethiazole in the management of the opsoclonus-myoclonus syndrome.

Circulating miR-323-3p is a biomarker for cardiomyopathy and an indicator of phenotypic variability in Friedreich's ataxia patients.

Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes

Clinical and neuroimaging characterization of two C9orf72-positive siblings with amyotrophic lateral sclerosis and schizophrenia

Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations

Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

Dysferlin expression in monocytes: A source of mRNA for mutation analysis

Early-onset ataxia with cardiomyopathy and retained tendon reflexes maps to the friedreich's ataxia locus on chromosome 9q

Generation of a disease-specific iPS cell line derived from a patient with Charcot-Marie-Tooth type 2K lacking functional GDAP1 gene.

Guidelines for molecular diagnosis of Charcot-Marie-Tooth disease

Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect

Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population.

Immunoproteomic studies on paediatric opsoclonus-myoclonus associated with neuroblastoma

Incidence of and Risk Factors for Neurologic Complications After Heart Transplantation

Increased autophagy and apoptosis contribute to muscle atrophy in a myotonic dystrophy type 1 Drosophila model.

Inflammatory amyloid angiopathy.

LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.

Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene.

MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy ⬇️

Migraine, patent foramen ovale and migraine triggers

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

Molecular characterization of congenital myasthenic syndromes in Spain.

Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes

Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies

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

Netrin-1 receptor antibodies in thymoma-associated neuromyotonia with myasthenia gravis.

Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy

Origin of the de novo duplication in Charcot — Marie — Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis

Peripheral nerve hyperexcitability: A clinical and immunologic study of 38 patients

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

Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat

Phenotypic heterogeneity in two large Roma families with a congenital myasthenic syndrome due to CHRNE 1267delG mutation. A long-term follow-up.

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

Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes

Primary lateral sclerosis and hereditary spastic paraplegia in sporadic patients. An important distinction in descriptive studies.

Reversible paraneoplastic limbic encephalitis associated with antibodies to the AMPA receptor

Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3

Social handicaps of multiple sclerosis and their relation to neurological alterations

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

Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy.

Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort.

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

The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease

The mutation of Transportin 3 gene that causes limb girdle muscular dystrophy 1F induces protection against HIV-1 infection

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

Trunk muscle involvement in late-onset Pompe disease: Study of thirty patients

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

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