List of works - Adolfo López de Munain

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions

scientific article

Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy.

scientific article published on 29 May 2011

Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy

scientific article (publication date: May 2002)

A small noncoding RNA signature found in exosomes of GBM patient serum as a diagnostic tool

scientific article published on 16 January 2014

Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IκBα/NF-κB pathway in limb-girdle muscular dystrophy type 2A

scientific article published on 01 May 1999

Genetic and epigenetic modifications of Sox2 contribute to the invasive phenotype of malignant gliomas

scientific article

Association between total, processed, red and white meat consumption and all-cause, CVD and IHD mortality: a meta-analysis of cohort studies.

scientific article

Recent male-mediated gene flow over a linguistic barrier in Iberia, suggested by analysis of a Y-chromosomal DNA polymorphism

scientific article

LRRK2 delays degradative receptor trafficking by impeding late endosomal budding through decreasing Rab7 activity.

scientific article published on 30 July 2014

Calpainopathy-a survey of mutations and polymorphisms

scientific article published on June 1999

Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2.

scientific article

Autosomal dominant lateral temporal epilepsy: clinical and genetic study of a large Basque pedigree linked to chromosome 10q.

scientific article

The Y-chromosome tree bursts into leaf: 13,000 high-confidence SNPs covering the majority of known clades.

scientific article

Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients

scientific article published on 01 February 1998

Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain).

scientific article

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

scientific article published on 2 February 2005

ALS: A bucket of genes, environment, metabolism and unknown ingredients.

scientific article published on 25 May 2016

Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy.

scientific article published on 11 April 2016

The A1555G mutation in the 12S rRNA gene of human mtDNA: recurrent origins and founder events in families affected by sensorineural deafness

scientific article

Analysis of theC9orf72Gene in Patients with Amyotrophic Lateral Sclerosis in Spain and Different Populations Worldwide

article

Assessing the role of the TREM2 p.R47H variant as a risk factor for Alzheimer's disease and frontotemporal dementia

scientific article published on 13 September 2013

Mutations in progranulin gene: clinical, pathological, and ribonucleic acid expression findings.

scientific article

Large-scale recent expansion of European patrilineages shown by population resequencing

scientific article (publication date: 19 May 2015)

LRRK2 G2019S and R1441G mutations associated with Parkinson's disease are common in the Basque Country, but relative prevalence is determined by ethnicity.

scientific article

Dysregulation of calcium homeostasis in muscular dystrophies.

scientific article published on 08 October 2014

Phenotypic variability in familial prion diseases due to the D178N mutation.

scientific article

SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V

scientific article published on 21 May 2012

Current mutation discovery approaches in Retinitis Pigmentosa.

scientific article published on 27 September 2012

Circulating microparticles reflect treatment effects and clinical status in multiple sclerosis

scientific article published on 01 January 2014

Cognitive/personality pattern and triplet expansion size in adult myotonic dystrophy type 1 (DM1): CTG repeats, cognition and personality in DM1.

scientific article published on 23 July 2009

Two large Spanish pedigrees with nonsyndromic sensorineural deafness and the mtDNA mutation at nt 1555 in the 12s rRNA gene: evidence of heteroplasmy.

scientific article published in February 1997

CAPN3 mutations in patients with idiopathic eosinophilic myositis.

scientific article

Mutations in LRRK2 impair NF-κB pathway in iPSC-derived neurons

scientific article

Analysis of the CHCHD10 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain

scientific article published on 7 July 2015

Expanded CTG repeats trigger miRNA alterations in Drosophila that are conserved in myotonic dystrophy type 1 patients.

scientific article published on 8 November 2012

Neurodegenerative Disease Phenotypes in Carriers of MAPT p.A152T, A Risk Factor for Frontotemporal Dementia Spectrum Disorders and Alzheimer Disease

scientific article published on October 1, 2013

Blood miRNA expression pattern is a possible risk marker for natalizumab-associated progressive multifocal leukoencephalopathy in multiple sclerosis patients.

scientific article published on 22 May 2014

A novel PRNP Y218N mutation in Gerstmann-Sträussler-Scheinker disease with neurofibrillary degeneration.

scientific article published on August 2010

HLA-DRB1*15:01 and multiple sclerosis: a female association?

scientific article published on 29 November 2011

Autosomal dominant nocturnal frontal lobe epilepsy in a Spanish family with a Ser252Phe mutation in the CHRNA4 gene

scientific article published on 01 August 1999

Mis-splicing of Tau exon 10 in myotonic dystrophy type 1 is reproduced by overexpression of CELF2 but not by MBNL1 silencing.

scientific article

Parkinson's disease due to the R1441G mutation in Dardarin: a founder effect in the Basques

scientific article published on 01 November 2006

Impaired calcium calmodulin kinase signaling and muscle adaptation response in the absence of calpain 3

scientific article

Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.

scientific article

Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity.

scientific article published on 7 October 2011

Gene expression profiling in limb-girdle muscular dystrophy 2A

scientific article

Cancer risk in DM1 is sex-related and linked to miRNA-200/141 downregulation.

scientific article published on 24 August 2016

Parkinson disease-associated mutations in LRRK2 cause centrosomal defects via Rab8a phosphorylation

scientific article

Muscle wasting in myotonic dystrophies: a model of premature aging

scientific article

G2019S LRRK2 mutant fibroblasts from Parkinson's disease patients show increased sensitivity to neurotoxin 1-methyl-4-phenylpyridinium dependent of autophagy.

scientific article published on 10 July 2014

List of works by Adolfo López de Munain

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions

Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy.

Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy

A small noncoding RNA signature found in exosomes of GBM patient serum as a diagnostic tool

Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IκBα/NF-κB pathway in limb-girdle muscular dystrophy type 2A

Genetic and epigenetic modifications of Sox2 contribute to the invasive phenotype of malignant gliomas

Association between total, processed, red and white meat consumption and all-cause, CVD and IHD mortality: a meta-analysis of cohort studies.

Recent male-mediated gene flow over a linguistic barrier in Iberia, suggested by analysis of a Y-chromosomal DNA polymorphism

LRRK2 delays degradative receptor trafficking by impeding late endosomal budding through decreasing Rab7 activity.

Calpainopathy-a survey of mutations and polymorphisms

Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2.

Autosomal dominant lateral temporal epilepsy: clinical and genetic study of a large Basque pedigree linked to chromosome 10q.

The Y-chromosome tree bursts into leaf: 13,000 high-confidence SNPs covering the majority of known clades.

Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients

Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain).

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

ALS: A bucket of genes, environment, metabolism and unknown ingredients.

Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy.

The A1555G mutation in the 12S rRNA gene of human mtDNA: recurrent origins and founder events in families affected by sensorineural deafness

Analysis of theC9orf72Gene in Patients with Amyotrophic Lateral Sclerosis in Spain and Different Populations Worldwide

Assessing the role of the TREM2 p.R47H variant as a risk factor for Alzheimer's disease and frontotemporal dementia

Mutations in progranulin gene: clinical, pathological, and ribonucleic acid expression findings.

Large-scale recent expansion of European patrilineages shown by population resequencing

LRRK2 G2019S and R1441G mutations associated with Parkinson's disease are common in the Basque Country, but relative prevalence is determined by ethnicity.

Dysregulation of calcium homeostasis in muscular dystrophies.

Phenotypic variability in familial prion diseases due to the D178N mutation.

SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V

Current mutation discovery approaches in Retinitis Pigmentosa.

Circulating microparticles reflect treatment effects and clinical status in multiple sclerosis

Cognitive/personality pattern and triplet expansion size in adult myotonic dystrophy type 1 (DM1): CTG repeats, cognition and personality in DM1.

Two large Spanish pedigrees with nonsyndromic sensorineural deafness and the mtDNA mutation at nt 1555 in the 12s rRNA gene: evidence of heteroplasmy.

CAPN3 mutations in patients with idiopathic eosinophilic myositis.

Mutations in LRRK2 impair NF-κB pathway in iPSC-derived neurons

Analysis of the CHCHD10 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain

Expanded CTG repeats trigger miRNA alterations in Drosophila that are conserved in myotonic dystrophy type 1 patients.

Neurodegenerative Disease Phenotypes in Carriers of MAPT p.A152T, A Risk Factor for Frontotemporal Dementia Spectrum Disorders and Alzheimer Disease

Blood miRNA expression pattern is a possible risk marker for natalizumab-associated progressive multifocal leukoencephalopathy in multiple sclerosis patients.

A novel PRNP Y218N mutation in Gerstmann-Sträussler-Scheinker disease with neurofibrillary degeneration.

HLA-DRB1*15:01 and multiple sclerosis: a female association?

Autosomal dominant nocturnal frontal lobe epilepsy in a Spanish family with a Ser252Phe mutation in the CHRNA4 gene

Mis-splicing of Tau exon 10 in myotonic dystrophy type 1 is reproduced by overexpression of CELF2 but not by MBNL1 silencing.

Parkinson's disease due to the R1441G mutation in Dardarin: a founder effect in the Basques

Impaired calcium calmodulin kinase signaling and muscle adaptation response in the absence of calpain 3

Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.

Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity.

Gene expression profiling in limb-girdle muscular dystrophy 2A

Cancer risk in DM1 is sex-related and linked to miRNA-200/141 downregulation.

Parkinson disease-associated mutations in LRRK2 cause centrosomal defects via Rab8a phosphorylation

Muscle wasting in myotonic dystrophies: a model of premature aging

G2019S LRRK2 mutant fibroblasts from Parkinson's disease patients show increased sensitivity to neurotoxin 1-methyl-4-phenylpyridinium dependent of autophagy.