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Lista de obras de Adolfo López de Munain

"Frontotemporoparietal" dementia: clinical phenotype associated with the c.709-1G>A PGRN mutation.

artículo científico publicado en 2009

'Rubral' tremor after vascular thalamic lesions

artículo científico publicado en 1998

A Common Haplotype Associated with the Basque 2362AG-TCATCT Mutation in the Muscular Calpain-3 Gene

article

A Cost-Effective Mutation Screening Strategy for Inherited Retinal Dystrophies

artículo científico publicado en 2016

A comprehensive serum lipidome profiling of amyotrophic lateral sclerosis

artículo científico publicado en 2020

A genomic screen of Spanish multiple sclerosis patients reveals multiple loci associated with the disease

artículo científico publicado en 2003

A neonatal form of Steinert's myotonic dystrophy in twins after in vitro fertilization

artículo científico publicado en 2005

A neural extracellular matrix-based method for in vitro hippocampal neuron culture and dopaminergic differentiation of neural stem cells.

artículo científico publicado en 2013

A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies

artículo científico publicado en 2018

A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity

article by Sven J. van der Lee et al published 27 May 2019 in Acta Neuropathologica

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

artículo científico publicado en 2010

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

scientific article published on 16 January 2014

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

artículo científico publicado en 2016

Acetylome in Human Fibroblasts From Parkinson's Disease Patients.

artículo científico publicado en 2018

Acute herpes simplex virus type 1 retinal necrosis three years after herpes simplex encephalitis

artículo científico publicado en 2014

Age gene expression and coexpression progressive signatures in peripheral blood leukocytes.

artículo científico publicado en 2015

Age-related cognitive decline in myotonic dystrophy type 1: An 11-year longitudinal follow-up study

artículo científico publicado en 2019

Amyotrophic lateral sclerosis: a complex syndrome that needs an integrated research approach

scientific article published on 01 February 2019

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

artículo científico publicado en 2015

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

article

Antibodies to Borrelia burgdorferi in Guillain-Barré syndrome

artículo científico publicado en 1990

Anticipation in myotonic dystrophy: a parental-sex-related phenomenon

artículo científico publicado en 1994

Apolipoprotein E epsilon4 allele in familial and sporadic Parkinson's disease

scientific article published on 14 August 2006

Assessing the role of TUBA4A gene in frontotemporal degeneration.

artículo científico publicado en 2015

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

artículo científico publicado en 2013

Association between synapsin III gene promoter SNPs and multiple sclerosis in Basque patients.

artículo científico publicado en 2008

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

artículo científico publicado en 2014

Association of lifestyle, inflammatory factors, and dietary patterns with the risk of suffering a stroke: A case-control study.

artículo científico publicado en 2016

Ataxia following gastric bleeding due to omeprazole-benzodiazepine interaction

artículo científico publicado en 1992

Author Correction: A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies.

artículo científico publicado en 2019

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

artículo científico publicado en 1999

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

artículo científico publicado en 1999

Blood Markers in Healthy-Aged Nonagenarians: A Combination of High Telomere Length and Low Amyloidβ Are Strongly Associated With Healthy Aging in the Oldest Old

artículo científico publicado en 2018

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

artículo científico publicado en 2014

C3KO mouse expression analysis: downregulation of the muscular dystrophy Ky protein and alterations in muscle aging

artículo científico publicado en 2012

CAPN3 mutations in patients with idiopathic eosinophilic myositis.

artículo científico publicado en 2006

CD24 V/V is an allele associated with the risk of developing multiple sclerosis in the Spanish population

scientific article published on 01 August 2006

CTG trinucleotide repeat variability in identical twins with myotonic dystrophy

scientific article published on 01 March 1994

Calpain 3 deficiency affects SERCA expression and function in the skeletal muscle.

artículo científico publicado en 2016

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

artículo científico publicado en 1999

Calpainopathy-a survey of mutations and polymorphisms

artículo científico publicado en 1999

Cancer phenotype in myotonic dystrophy patients: Results from a meta-analysis

scientific article published on 01 October 2018

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

artículo científico publicado en 2016

Circulating microparticles reflect treatment effects and clinical status in multiple sclerosis

scientific article published on 01 January 2014

Clinical response to thalidomide in the treatment of intracranial tuberculomas: case report.

artículo científico

Clinical signs of brain death simulated by Guillain-Barré syndrome

scientific article published on 01 December 1993

Coexistence of protease sensitive and resistant prion protein in 129VV homozygous sporadic Creutzfeldt-Jakob disease: a case report.

artículo científico publicado en 2012

Cognitive dysfunction in Parkinson's disease related to the R1441G mutation in LRRK2.

artículo científico publicado en 2014

Cognitive function in facioscapulohumeral dystrophy correlates with the molecular defect.

artículo científico publicado en 2008

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

artículo científico publicado en 2009

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

artículo científico publicado en 2010

Contribution of molecular analyses to the estimation of the risk of congenital myotonic dystrophy.

artículo científico publicado en 1995

Copy number variation analysis increases the diagnostic yield in muscle diseases

scientific article published on 11 December 2017

Correction to: A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity

scientific article published on 18 January 2020

Costamere proteins and their involvement in myopathic processes.

artículo científico

Current mutation discovery approaches in Retinitis Pigmentosa.

artículo científico publicado en 2012

DAT imaging and clinical biomarkers in relatives at genetic risk for LRRK2 R1441G Parkinson's disease.

artículo científico publicado en 2015

Dementias by prions: a new pathogenic paradigm

artículo científico publicado el 1 de julio de 1997

Dermic-derived fibroblasts for the study of amyotrophic lateral sclerosis

artículo científico publicado en 2020

Distinctive age-related temporal cortical thinning in asymptomatic granulin gene mutation carriers.

artículo científico publicado en 2012

Dizziness: a frequent complaint in neurology consultation

scientific article published on 01 June 1991

Does the severity of the LGMD2A phenotype in compound heterozygotes depend on the combination of mutations?

artículo científico publicado en 2011

Dominant LGMD2A: alternative diagnosis or hidden digenism?

artículo científico publicado en 2016

Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2.

artículo científico publicado en 2015

Dried Blood Spot for Screening for Late-Onset Pompe Disease: A Spanish Cohort

Dynamic mutations of the human genome and their impact on neurologic disease

scientific article published on 01 February 1995

Dysregulation of calcium homeostasis in muscular dystrophies.

artículo científico publicado en 2014

Editorial: Role of Stem Cells in Skeletal Muscle Development, Regeneration, Repair, Aging, and Disease.

artículo científico publicado en 2016

Eosinophilic infiltration related to CAPN3 mutations: a pathophysiological component of primary calpainopathy?

artículo científico publicado en 2011

Epigenetic Changes in the Methylation Patterns of KCNQ1 and WT1 after a Weight Loss Intervention Program in Obese Stroke Patients.

artículo científico publicado en 2015

Epigenetic patterns of two gene promoters (TNF-α and PON) in stroke considering obesity condition and dietary intake.

artículo científico publicado en 2014

Epitope Mapping of Antibodies to Alpha-Synuclein in LRRK2 Mutation Carriers, Idiopathic Parkinson Disease Patients, and Healthy Controls.

artículo científico publicado en 2014

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

artículo científico publicado en 2012

Expansion of the myotonic dystrophy gene in Italian and Spanish patients.

artículo científico publicado en 1992

Expression Profiling Analysis Reveals Key MicroRNA-mRNA Interactions in Early Retinal Degeneration in Retinitis Pigmentosa.

artículo científico publicado en 2018

FAHN/SPG35: a narrow phenotypic spectrum across disease classifications

artículo científico publicado en 2019

FRZB and melusin, overexpressed in LGMD2A, regulate integrin β1D isoform replacement altering myoblast fusion and the integrin-signalling pathway.

artículo científico publicado en 2017

Frequency of intergenerational contractions of the CTG repeats in myotonic dystrophy

artículo científico publicado en 1996

Frequency of myotonic dystrophy gene carriers in cataract patients.

artículo científico publicado en 1996

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

artículo científico publicado en 2014

Gait analysis in Parkinson's disease and response to dopaminergic treatment

artículo científico publicado en 2005

Gene expression profiling in limb-girdle muscular dystrophy 2A

artículo científico publicado en 2008

Genes related to iron metabolism and susceptibility to Alzheimer's disease in Basque population

artículo científico publicado en 2006

Genetic Mutation Analysis of Parkinson's Disease Patients Using Multigene Next-Generation Sequencing Panels.

artículo científico publicado en 2016

Genetic analysis of the LGI/Epitempin gene family in sporadic and familial lateral temporal lobe epilepsy

article

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

artículo científico publicado en 2011

Genetic highthroughput screening in retinitis pigmentosa based on high resolution melting (HRM) analysis.

artículo científico publicado en 2013

Genotype–phenotype correlations in valosin-containing protein disease: a retrospective muticentre study

scientific article published in 2022

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

artículo científico publicado en 2011

Hepatotoxicity due to ticlopidine

artículo científico publicado en 1998

High prevalence of mutations affecting the splicing process in a Spanish cohort with autosomal dominant retinitis pigmentosa

artículo científico publicado en 2017

High-dose intravenous immune globulin in the management of severe Guillain-Barre syndrome.

artículo científico publicado en 1992

Hypoxic ischaemic encephalopathy: lesions on magnetic resonance

artículo científico publicado en 2011

Identification and Characterization of the Dermal Panniculus Carnosus Muscle Stem Cells.

artículo científico publicado en 2016

Identification of ncRNAs as potential therapeutic targets in multiple sclerosis through differential ncRNA - mRNA network analysis.

artículo científico publicado en 2015

Impaired Mitophagy and Protein Acetylation Levels in Fibroblasts from Parkinson’s Disease Patients

artículo científico publicado en 2018

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

artículo científico publicado en 2012

In vitro correction of a pseudoexon-generating deep intronic mutation in LGMD2A by antisense oligonucleotides and modified small nuclear RNAs.

artículo científico

Incidence of varicella zoster virus infections of the central nervous system in the elderly: a large tertiary hospital-based series (2007-2014).

artículo científico publicado en 2017

Increasing progranulin levels and blockade of the ERK1/2 pathway: upstream and downstream strategies for the treatment of progranulin deficient frontotemporal dementia.

artículo científico publicado en 2015

Influence of CCR5-Delta32 genotype in Spanish population with multiple sclerosis

scientific article published on 10 March 2007

Influence of the sex of the transmitting grandparent in congenital myotonic dystrophy

artículo científico publicado en 1995

Insights into the mechanisms of copper dyshomeostasis in amyotrophic lateral sclerosis

artículo científico publicado en 2017

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

artículo científico publicado en 2014

Introduction: cerebral diseases in aging

artículo científico publicado en 1997

Investigation of the role of rare TREM2 variants in frontotemporal dementia subtypes

artículo científico publicado en 2014

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

artículo científico publicado en 2005

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

artículo científico publicado en 2008

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

Leucine-rich repeat kinase 2 modulates cyclooxygenase 2 and the inflammatory response in idiopathic and genetic Parkinson's disease.

artículo científico publicado en 2013

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

artículo científico publicado en 1998

Longitudinal Neuropsychological Study of Presymptomatic c.709-1G>A Progranulin Mutation Carriers

scientific article published on 29 October 2018

Luetic meningitis: an atypical form of presentation simulating a pseudomigraine with inflammatory CSF

artículo científico publicado en 1990

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

artículo científico publicado en 2011

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

artículo científico publicado en 2011

Mitochondrial DNA polymorphisms/haplogroups in hereditary spastic paraplegia

artículo científico publicado en 2011

Mitochondrial haplogroups in Basque multiple sclerosis patients

artículo científico publicado en 2004

Mitochondrial polymporphisms in Parkinson's Disease

artículo científico publicado en 2004

Modeling neural differentiation on micropatterned substrates coated with neural matrix components.

artículo científico publicado en 2012

Molecular basis of dementias

artículo científico publicado en 1996

Molecular characterization of putative modulatory factors in two Spanish families with A1555G deafness

artículo científico publicado en 2008

Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy

scientific article published on 08 December 2018

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

artículo científico publicado en 2015

Muscle wasting in myotonic dystrophies: a model of premature aging

artículo científico publicado en 2015

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

artículo científico publicado en 2010

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

artículo científico publicado en 2016

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

artículo científico publicado en 2007

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

artículo científico publicado en 2002

Natural history of LGMD2A for delineating outcome measures in clinical trials

artículo científico publicado en 2016

Negative evidence for stachydrine or Galeopsis ladanum L. seeds as the causal agents of coturnism after quail meat ingestion.

artículo científico publicado en 2009

Neurocognitive disorder detection based on feature vectors extracted from VBM analysis of structural MRI.

artículo científico publicado en 2011

Neurogenetic disorders in the Basque population

artículo científico publicado en 2014

Neuropsychological features of asymptomatic c.709-1G>A progranulin mutation carriers.

artículo científico publicado en 2012

Nontraditional Lipid Variables Predict Recurrent Brain Ischemia in Embolic Stroke of Undetermined Source

artículo científico publicado en 2017

Novel valosin containing protein mutation in a Swiss family with hereditary inclusion body myopathy and dementia.

artículo científico publicado en 2012

Obesity and ischemic stroke modulate the methylation levels of KCNQ1 in white blood cells.

artículo científico publicado en 2014

PGRN haploinsufficiency increased Wnt5a signaling in peripheral cells from frontotemporal lobar degeneration-progranulin mutation carriers

artículo científico publicado en 2013

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

artículo científico publicado en 2018

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

artículo científico publicado en 2006

Paroxysmal dystonia induced by exercise secondary to flecainide

scientific article published on 01 November 1991

Patients organizations and new drug approval in the US. Eteplirsen and Duchenne muscular dystrophy case

artículo científico publicado en 2017

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

artículo científico publicado en 2011

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

artículo científico publicado en 2005

Pompe Disease and Autophagy: Partners in Crime, or Cause and Consequence?

artículo científico publicado en 2015

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.

artículo científico publicado en 2018

Prevalence of Parkinson's disease and other types of Parkinsonism. A door-to-door survey in Bidasoa, Spain

scientific article published on 01 March 2004

Prevalence of cancer in Parkinson's disease related to R1441G and G2019S mutations in LRRK2.

artículo científico publicado en 2013

Prevalence of essential tremor: a door-to-door survey in bidasoa, spain

artículo científico publicado en 2001

Progranulin deficiency induces overactivation of WNT5A expression via TNF-α/NF-κB pathway in peripheral cells from frontotemporal dementia-linked granulin mutation carriers

artículo científico publicado en 2015

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

artículo científico publicado en 1998

Progressive changes in non-coding RNA profile in leucocytes with age.

artículo científico publicado en 2017

Rapidly Reversible Winging Scapula

scientific article published on 01 September 2015

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

artículo científico publicado en 1999

Reproductive counselling for women with myotonic dystrophy.

artículo científico publicado en 2002

Retinoids and Amyotrophic Lateral Sclerosis

artículo científico publicado en 2018

SORT1 Mutation Resulting in Sortilin Deficiency and p75(NTR) Upregulation in a Family With Essential Tremor.

artículo científico publicado en 2015

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

artículo científico publicado en 2012

Screening of the CAPN3 gene in patients with possible LGMD2A

artículo científico publicado en 2006

Sex-related difference in intergenerational expansion of myotonic dystrophy gene

artículo científico publicado en 1993

Six Serum miRNAs Fail to Validate as Myotonic Dystrophy Type 1 Biomarkers

artículo científico publicado en 2016

SncRNA (microRNA &snoRNA) opposite expression pattern found in multiple sclerosis relapse and remission is sex dependent.

artículo científico publicado en 2016

Social cognition in myotonic dystrophy type 1: Specific or secondary impairment?

artículo científico publicado en 2018

Somatic mosaicism in a case of apparently sporadic Creutzfeldt-Jakob disease carrying a de novo D178N mutation in the PRNP gene

artículo científico publicado en 2010

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

artículo científico publicado en 2016

Tardive akathisia due to sulpiride

artículo científico publicado en 1994

Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain

scientific article published on 11 May 2020

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.

artículo científico publicado en 2015

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

artículo científico publicado en 1999

The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism.

artículo científico publicado en 2013

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

artículo científico publicado en 2014

The mitochondrial genome and its relation to human pathology

artículo científico publicado en 1991

The panniculus carnosus muscle: an evolutionary enigma at the intersection of distinct research fields

artículo científico publicado en 2018

The unexpected co-occurrence of GRN and MAPT p.A152T in Basque families: Clinical and pathological characteristics

artículo científico publicado en 2017

The validity of Hodkinson's Abbreviated Mental Test for dementia screening in Guipuzcoa, Spain

scientific article published on 01 September 2001

Transcriptomic profile reveals gender-specific molecular mechanisms driving multiple sclerosis progression

artículo científico publicado en 2014

Trimetazidine induces parkinsonism, gait disorders and tremor.

artículo científico publicado en 2005

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

artículo científico publicado en 1997

UCP2 and mitochondrial haplogroups as a multiple sclerosis risk factor

artículo científico publicado en 2007

Ventricular tachycardia on chronic fingolimod treatment for multiple sclerosis

artículo científico publicado en 2015

[Abdominal pain and wall distension as the onset form of neuroborreliosis]

artículo científico publicado en 2011

[Alterations in functional proteins. Calpaine-3 deficiency]

artículo científico publicado en 1999

[Analysis of gait and movement of upper limbs in muscular dystrophies]

artículo científico publicado en 2005

[Andersen syndrome. Description of a case]

[Application of the polymerase chain reaction technique (PCR) to the molecular diagnosis of myotonic dystrophy]

scientific article published on 01 November 1991

[Autoimmune hepatitis in a patient with multiple sclerosis under treatment with glatiramer acetate]

artículo científico publicado en 2012

[Basic concepts in molecular genetics]

scientific article published on 01 March 1996

[Classification of mitochondrial diseases]

artículo científico publicado en 1998

[Clinical manifestations of myotonic dystrophy: epidemiologic survey]

scientific article published on 01 June 1993

[Clinical-genetic classification of muscular dystrophies]

artículo científico publicado en 1998

[Corticobasal ganglionic degeneration: a report of 7 clinically diagnosed cases]

artículo científico publicado en 1994

[DNA arrays: a general overview and specific applications]

artículo científico publicado en 2008

[DNA instability and neurological diseases: a new model for genetic disease]

scientific article published on 01 October 1994

[Direct genotypic analysis of myotonic dystrophy: detection of an unstable DNA fragment in carriers]

artículo científico publicado en 1993

[Drug treatment of frequent disorders in patients with Parkinson's disease]

artículo científico publicado en 1996

[Epidemiology of myotonic dystrophy in the island of Mallorca]

artículo científico publicado en 1992

[Genes, heredity and illness. A critical review of the concepts of genotypes and phenotypes]

artículo científico publicado en 1996

[Guidelines for monitoring late-onset Pompe disease.Sociedad Española de Medicina Interna (SEMI), Sociedad Española de Neurología (SEN) y Sociedad Española de Neumología y CirugíaTorácica (SEPAR)]

article published in 2015

[HLA-DRB1 typing in Caucasians patients with neuromyelitis optica]

artículo científico publicado en 2011

[Idiopathic myositis: a disease or a syndrome?]

artículo científico publicado en 1999

[Limb girdle dystrophy: a syndrome clinically and genetically heterogeneous]

artículo científico publicado en 1999

[Lower extremity monoparesis as complication of abdominal aortic aneurysm rupture: a case report]

scientific article published on 01 September 1999

[Mitochondrial encephalomyelitis, lactic acidosis and cerebrovascular accidents (MELAS) in pediatric age with the A3243G mutation in the tRNALeu(UUR) gene of mitochondrial DNA]

artículo científico publicado en 2000

[Multiple nerve root tumors and neurofibromatosis: contribution of magnetic resonance imaging]

scientific article published on 01 April 1991

[NMO-IgG antibodies in neuromyelitis optica: a report of 2 cases]

artículo científico publicado en 2006

[Oculopharyngeal muscular dystrophy: from the paradigm of the dynamic mutations to toxic proteinopathies]

scientific article published on 01 June 2004

[Parkinsonism after methyl alcohol poisoning]

artículo científico publicado en 1990

[Parkinsonism induced by sulpiride and veralipride: two different stories]

artículo científico publicado en 2011

[Sleep apnea syndrome and cerebral infarction]

scientific article published on 01 January 2000

[The gastrointestinal changes in dystrophia myotonica]

artículo científico publicado en 1997

iPS Cell Cultures from a Gerstmann-Sträussler-Scheinker Patient with the Y218N PRNP Mutation Recapitulate tau Pathology.

artículo científico publicado en 2017

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