A. L. de Munain

发表

The genetic architecture of Parkinson disease in Spain: characterizing population-specific risk, differential haplotype structures, and providing etiologic insight

Sonja W. Scholz, D. Hernandez, M. Nalls, 2019, bioRxiv.

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

A. L. de Munain, J. Riancho, F. Gil-Bea, 2019, Neural regeneration research.

Differential Micro RNA Expression in PBMC from Multiple Sclerosis Patients

J. A. Lozano, Iñaki Inza, S. Baranzini, 2009, PloS one.

A randomized, two‐year study of the efficacy of cognitive intervention on elderly people: the Donostia Longitudinal Study

Cristina Buiza, Elena Urdaneta, Igone Etxeberria, 2008, International journal of geriatric psychiatry.

Myotonic Dystrophy type 1 cells display impaired metabolism and mitochondrial dysfunction that are reversed by metformin

A. Matheu, A. L. de Munain, R. Fernández‐Torrón, 2020, Aging.

Frequency of intergenerational contractions of the CTG repeats in myotonic dystrophy

M. Baiget, A. L. de Munain, J. Poza, 1996, Genetic epidemiology.

Prevalence of myotonic dystrophy in Guipúzcoa (Basque Country, Spain)

J. Emparanza, M. Baiget, A. L. de Munain, 1993, Neurology.

Prion Protein Codon 129 Polymorphism Modifies Age at Onset of Frontotemporal Dementia With the C.709-1G>A Progranulin Mutation

V. V. Van Deerlin, A. L. de Munain, A. Alzualde, 2011, Alzheimer disease and associated disorders.

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

M. Jobling, P. de Knijff, A. Sajantila, 2015, Nature Communications.

Penetrance in Parkinson's disease related to the LRRK2 R1441G mutation in the Basque country (Spain)

A. Gorostidi, J. Ruiz‐Martinez, A. L. de Munain, 2010, Movement disorders : official journal of the Movement Disorder Society.

Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

A. L. de Munain, R. Rojas-García, R. Sivera, 2017, Scientific Reports.

Gene Expression Profiling in Limb-Girdle Muscular Dystrophy 2A

Iñaki Inza, Rubén Armañanzas, Ana Cabello, 2008, PloS one.

A novel Alex3/Gαq protein complex regulating mitochondrial dynamics, dendritic complexity, and neuronal survival

G. Marfany, J. del Valle, E. Soriano, 2021, bioRxiv.

Advances in gene therapies for limb-girdle muscular dystrophies

A. Aiastui, A. L. de Munain, A. J. Mateos-Aierdi, 2014 .

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

S. Baranzini, A. L. de Munain, D. Otaegui, 2014, Multiple sclerosis.

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

A. Gorostidi, J. Ruiz‐Martinez, A. L. de Munain, 2017, Aging.

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

V. Álvarez, E. Coto, J. Rosell, 2010, BMC neurology.

Targeting TDP-43 phosphorylation by Casein Kinase-1δ inhibitors: a novel strategy for the treatment of frontotemporal dementia

Ana Martínez, A. L. de Munain, D. Perez, 2016, Molecular Neurodegeneration.

CTG trinucleotide repeat variability in identical twins with myotonic dystrophy

M. Baiget, A. L. de Munain, A. Cobo, 1994, Annals of neurology.

Hepatotoxicity Due to Ticlopidine

J. Ruiz‐Martinez, A. L. de Munain, A. Castiella, 1998, The Annals of pharmacotherapy.

Ataxia following Gastric Bleeding Due to Omeprazole-Benzodiazepine Interaction

A. L. de Munain, J. Martí‐Massó, G. L. de Dicastillo, 1992, The Annals of pharmacotherapy.

Minimizing creatine kinase variability in rats for neuromuscular research purposes

J. Emparanza, A. L. de Munain, D. Otaegui, 2008, Laboratory animals.

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

I. Ferrer, A. L. de Munain, J. Zarranz, 2012, Journal of Medical Case Reports.

A validated WAIS-IV short-form to estimate intellectual functioning in myotonic dystrophy type 1

A. L. de Munain, N. Angeard, Garazi Labayru, 2022, Neuromuscular Disorders.

Genome-wide meta-analysis for Alzheimer’s disease cerebrospinal fluid biomarkers

W. M. van der Flier, D. Rujescu, I. Giegling, 2022, Acta Neuropathologica.

Genetic and Epigenetic Modifications of Sox2 Contribute to the Invasive Phenotype of Malignant Gliomas

M. Odero, F. Lang, E. Bandrés, 2011, PloS one.

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

Sonja W. Scholz, W. M. van der Flier, Till F. M. Andlauer, 2019, Acta Neuropathologica.

New insights into the genetic etiology of Alzheimer’s disease and related dementias

Nick C Fox, Catherine A. Macleod, W. M. van der Flier, 2022, Nature Genetics.

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

J. Ruiz‐Martinez, A. L. de Munain, D. Otaegui, 2006, Multiple sclerosis.

Mitochondrial haplogroups in Basque multiple sclerosis patients

P. Villoslada, J. Emparanza, A. L. de Munain, 2004, Multiple sclerosis.

Neuropathology of Parkinson's disease with the R1441G mutation in LRRK2

I. Ferrer, A. Gorostidi, J. Ruiz‐Martinez, 2009, Movement disorders : official journal of the Movement Disorder Society.

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

M. J. Fresnadillo Martínez, H. Hakonarson, G. Schellenberg, 2010, Nature Genetics.

α-Synuclein Levels in Blood Plasma from LRRK2 Mutation Carriers

A. Gorostidi, J. Ruiz‐Martinez, A. L. de Munain, 2012, PloS one.

New insights on the genetic etiology of Alzheimer’s and related dementia

Nick C Fox, Catherine A. Macleod, W. M. van der Flier, 2020 .

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

Eric T. Wang, E. Wang, M. Swanson, 2016, Nature Communications.

Familial Parkinson's disease: Clinical and genetic analysis of four Basque families

A. Sáenz, C. Paisán-Ruiz, A. L. de Munain, 2005, Annals of neurology.

Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

A. L. de Munain, R. Rojas-García, R. Sivera, 2017, Scientific Reports.

Genotype–phenotype correlations in recessive titinopathies

M. Pane, E. Mercuri, F. Muntoni, 2020, Genetics in Medicine.

Mapping of a second locus for familial hemiplegic migraine to 1q21–q23 and evidence of further heterogeneity

A. Verier, B. Echenne, A. L. de Munain, 1997, Annals of neurology.

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

A. L. de Munain, A. Bergareche, J. Poza, 2001, European journal of neurology.

Transcriptomic Profile Reveals Gender-Specific Molecular Mechanisms Driving Multiple Sclerosis Progression

G. Zamora-López, A. L. de Munain, D. Otaegui, 2014, PloS one.

Analysis of the C9orf72 Gene in Patients with Amyotrophic Lateral Sclerosis in Spain and Different Populations Worldwide

J. Clarimón, A. Lleó, P. Pástor, 2013, Human mutation.

Targeting TDP-43 phosphorylation by Casein Kinase-1δ inhibitors: a novel strategy for the treatment of frontotemporal dementia

Ana Martínez, A. L. de Munain, D. Perez, 2016, Molecular Neurodegeneration.

Muscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow‐up

I. Pulido-Valdeolivas, R. Carlier, S. Quijano-roy, 2018, Muscle & nerve.

Two large Spanish pedigrees with nonsyndromic sensorineural deafness and the mtDNA mutation at nt 1555 in the 12S rRNA gene

S. Dimauro, A. L. de Munain, A. Shanske, 1997, Neurology.

Neuropsychological Features of Asymptomatic c.709-1G>A Progranulin Mutation Carriers*

N. Balluerka, A. L. de Munain, A. Estanga, 2012, Journal of the International Neuropsychological Society.

Increased Transcriptional Activity of Milk-Related Genes following the Active Phase of Experimental Autoimmune Encephalomyelitis and Multiple Sclerosis1

S. Mostafavi, P. Mousavi, S. Baranzini, 2007, The Journal of Immunology.

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

I. Ferrer, M. Pancorbo, I. Ferrer, 2010, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

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

F. Leturcq, J. Kaplan, H. Sorimachi, 2011, Muscle & nerve.

ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization

L. Pérez-Jurado, E. Mondragón, A. L. de Munain, 2023, Genome Medicine.

Penetrance in Parkinson's disease related to the LRRK2 R1441G mutation in the Basque country (Spain)

A. Gorostidi, J. Ruiz‐Martinez, A. L. de Munain, 2010, Movement disorders : official journal of the Movement Disorder Society.

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

M. Jobling, P. de Knijff, A. Sajantila, 2015, Nature Communications.

New insights into the genetic etiology of Alzheimer’s disease and related dementias

Nick C Fox, Pavel P. Kuksa, W. M. van der Flier, 2022, Nature Genetics.