José Felix Martí Massó-rekin lankidetzan egindako argitalpenak (62)

2020

  1. The Discovery of the Dardarin Gene 15 Years Later: A Globalized Local History

    Movement Disorders

2017

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

    PLoS ONE, Vol. 12, Núm. 6

2016

  1. DAT imaging and clinical biomarkers in relatives at genetic risk for LRRK2R1441G Parkinson's disease

    Movement Disorders, Vol. 31, Núm. 3, pp. 335-343

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

    Molecular Diagnosis and Therapy, Vol. 20, Núm. 5, pp. 481-491

2015

  1. Clinical correlations with lewy body pathology in LRRK2-related Parkinson disease

    JAMA Neurology, Vol. 72, Núm. 1, pp. 100-105

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

    ASN neuro, Vol. 7, Núm. 4

2014

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

    Parkinsonism and Related Disorders, Vol. 20, Núm. 10, pp. 1097-1100

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

    Movement Disorders, Vol. 29, Núm. 6, pp. 750-755

2013

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

    Neurobiology of Aging, Vol. 34, Núm. 5, pp. 1462-1468

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

    Journal of Molecular Medicine, Vol. 91, Núm. 12, pp. 1399-1406

2012

  1. Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia

    Human Genetics, Vol. 131, Núm. 3, pp. 435-442

  2. Hepatitis autoinmune en un paciente con esclerosis múltiple en tratamiento con acetato de glatiramero.

    Revista de neurologia

  3. α-Synuclein Levels in Blood Plasma from LRRK2 Mutation Carriers

    PLoS ONE, Vol. 7, Núm. 12

2011

  1. Encefalopatía hipóxico-isquémica: lesiones en resonancia magnética

    Neurologia

  2. Olfactory deficits and cardiac 123I-MIBG in Parkinson's disease related to the LRRK2 R1441G and G2019S mutations

    Movement Disorders, Vol. 26, Núm. 11, pp. 2026-2031

  3. Parkinsonismo inducido por sulpiride y veralipride: dos historias diferentes

    Medicina Clinica

  4. Prion protein codon 129 polymorphism modifies age at onset of frontotemporal dementia with the C.709-1G>a progranulin mutation

    Alzheimer Disease and Associated Disorders, Vol. 25, Núm. 1, pp. 93-95

2009

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

    Multiple Sclerosis, Vol. 15, Núm. 1, pp. 124-128

  2. Cognitive function in facioscapulohumeral dystrophy correlates with the molecular defect

    Genes, Brain and Behavior, Vol. 8, Núm. 1, pp. 53-59

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

    Neurology, Vol. 73, Núm. 17, pp. 1367-1374