Gipuzkoa
Campus
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Pitié-Salpêtrière Hospital
París, FranciaPublicaciones en colaboración con investigadoras/es de Pitié-Salpêtrière Hospital (30)
2024
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Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease
Brain : a journal of neurology, Vol. 147, Núm. 5, pp. 1887-1898
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Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum
Movement Disorders, Vol. 39, Núm. 1, pp. 209-214
2023
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Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort
Movement Disorders, Vol. 38, Núm. 2, pp. 286-303
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Erratum: Author Correction: Common variants in Alzheimer's disease and risk stratification by polygenic risk scores (Nature communications (2021) 12 1 (3417))
Nature communications
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Spastic Paraplegia Type 7 (SPG7)
Essentials of Cerebellum and Cerebellar Disorders: A Primer For Graduate Students, Second Edition (Springer International Publishing), pp. 691-695
2022
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A validated WAIS-IV short-form to estimate intellectual functioning in myotonic dystrophy type 1
Neuromuscular Disorders, Vol. 32, Núm. 9, pp. 749-753
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Genome-wide meta-analysis for Alzheimer’s disease cerebrospinal fluid biomarkers
Acta Neuropathologica, Vol. 144, Núm. 5, pp. 821-842
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Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study
Journal of Neurology, Neurosurgery and Psychiatry, Vol. 93, Núm. 10, pp. 1099-1111
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Longitudinal clinical and biomarker characteristics of non-manifesting LRRK2 G2019S carriers in the PPMI cohort
npj Parkinson's Disease, Vol. 8, Núm. 1
2021
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RIPK3 acts as a lipid metabolism regulator contributing to inflammation and carcinogenesis in non-alcoholic fatty liver disease
Gut, Vol. 70, Núm. 12, pp. 2359-2372
2020
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Addition of maraviroc versus placebo to standard antiretroviral therapy for initial treatment of advanced HIV infection: A randomized trial
Annals of Internal Medicine, Vol. 172, Núm. 5, pp. 297-305
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Genetic and phenotypic spectrum associated with IFIH1 gain-of-function
Human Mutation, Vol. 41, Núm. 4, pp. 837-849
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Genotype–phenotype correlations in recessive titinopathies
Genetics in Medicine, Vol. 22, Núm. 12, pp. 2029-2040
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Phenotypic correlations in a large single-center cohort of patients with BSCL2 nerve disorders: a clinical, neurophysiological and muscle magnetic resonance imaging study
European Journal of Neurology, Vol. 27, Núm. 8, pp. 1364-1373
2019
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Feasibility and safety of lumbar puncture in the Parkinson's disease research participants: Parkinson's Progression Marker Initiative (PPMI)
Parkinsonism and Related Disorders, Vol. 62, pp. 201-209
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Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy
Journal of Neurology, Neurosurgery and Psychiatry, Vol. 90, Núm. 5, pp. 576-585
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Week 96 efficacy and safety results of the phase 3, randomized EMERALD trial to evaluate switching from boosted-protease inhibitors plus emtricitabine/tenofovir disoproxil fumarate regimens to the once daily, single-tablet regimen of darunavir/cobicistat/emtricitabine/tenofovir alafenamide (D/C/F/TAF) in treatment-experienced, virologically-suppressed adults living with HIV-1
Antiviral Research, Vol. 170
2018
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Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study
The Lancet Neurology, Vol. 17, Núm. 6, pp. 548-558
2017
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Penetrance estimate of LRRK2 p.G2019S mutation in individuals of non-Ashkenazi Jewish ancestry
Movement Disorders, Vol. 32, Núm. 10, pp. 1432-1438
2016
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Natural history of LGMD2A for delineating outcome measures in clinical trials
Annals of Clinical and Translational Neurology, Vol. 3, Núm. 4, pp. 248-265