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Parkinson's disease due to the R1441G mutation in Dardarin: a founder effect in the Basques.
- Published in:
- 2006
- By:
- Publication type:
- journal article
Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Cancer phenotype in myotonic dystrophy patients: Results from a meta-analysis.
- Published in:
- 2018
- By:
- Publication type:
- journal article
DAT imaging and clinical biomarkers in relatives at genetic risk for LRRK2 R1441G Parkinson's disease.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Prevalence of cancer in Parkinson's disease related to R1441G and G2019S mutations in LRRK2.
- Published in:
- Movement Disorders, 2014, v. 29, n. 6, p. 750, doi. 10.1002/mds.25778
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- Publication type:
- Article
Olfactory deficits and cardiac 123I-MIBG in Parkinson's disease related to the LRRK2 R1441G and G2019S mutations.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Olfactory deficits and cardiac <sup>123</sup>I-MIBG in Parkinson's disease related to the LRRK2 R1441G and G2019S mutations.
- Published in:
- Movement Disorders, 2011, v. 26, n. 11, p. 2026, doi. 10.1002/mds.23773
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- Publication type:
- Article
Penetrance in Parkinson's disease related to the LRRK2 R1441G mutation in the Basque country (Spain).
- Published in:
- Movement Disorders, 2010, v. 25, n. 14, p. 2340, doi. 10.1002/mds.23278
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- Publication type:
- Article
Neuropathology of Parkinson's disease with the R1441G mutation in LRRK2.
- Published in:
- Movement Disorders, 2009, v. 24, n. 13, p. 1998, doi. 10.1002/mds.22677
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- Publication type:
- Article
SncRNA (microRNA &snoRNA) opposite expression pattern found in multiple sclerosis relapse and remission is sex dependent.
- Published in:
- Scientific Reports, 2016, p. 20126, doi. 10.1038/srep20126
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- Publication type:
- Article
Changes in Liver Lipidomic Profile in G2019S- LRRK2 Mouse Model of Parkinson's Disease.
- Published in:
- Cells (2073-4409), 2023, v. 12, n. 5, p. 806, doi. 10.3390/cells12050806
- By:
- Publication type:
- Article
Delay of EGF-Stimulated EGFR Degradation in Myotonic Dystrophy Type 1 (DM1).
- Published in:
- Cells (2073-4409), 2022, v. 11, n. 19, p. 3018, doi. 10.3390/cells11193018
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- Publication type:
- Article
A mammalian-specific Alex3/Gα<sub>q</sub> protein complex regulates mitochondrial trafficking, dendritic complexity, and neuronal survival.
- Published in:
- Science Signaling, 2024, v. 17, n. 822, p. 1, doi. 10.1126/scisignal.abq1007
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- Publication type:
- Article
Social cognition in myotonic dystrophy type 1: Specific or secondary impairment?
- Published in:
- PLoS ONE, 2018, v. 13, n. 9, p. 1, doi. 10.1371/journal.pone.0204227
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- Publication type:
- Article
The LRRK2 G2019S mutant exacerbates basal autophagy through activation of the MEK/ERK pathway.
- Published in:
- Cellular & Molecular Life Sciences, 2013, v. 70, n. 1, p. 121, doi. 10.1007/s00018-012-1061-y
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- Publication type:
- Article
Genetic Mutation Analysis of Parkinson's Disease Patients Using Multigene Next-Generation Sequencing Panels.
- Published in:
- Molecular Diagnosis & Therapy, 2016, v. 20, n. 5, p. 481, doi. 10.1007/s40291-016-0216-1
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- Publication type:
- Article
C3KO mouse expression analysis: downregulation of the muscular dystrophy Ky protein and alterations in muscle aging.
- Published in:
- Neurogenetics, 2012, v. 13, n. 4, p. 347, doi. 10.1007/s10048-012-0336-7
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- Publication type:
- Article
The Y-Chromosome Tree Bursts into Leaf: 13,000 High-Confidence SNPs Covering the Majority of Known Clades.
- Published in:
- Molecular Biology & Evolution, 2015, v. 32, n. 3, p. 661, doi. 10.1093/molbev/msu327
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- Publication type:
- Article
The parkinsonian LRRK2 R1441G mutation shows macroautophagy-mitophagy dysregulation concomitant with endoplasmic reticulum stress.
- Published in:
- Cell Biology & Toxicology, 2022, v. 38, n. 5, p. 889, doi. 10.1007/s10565-021-09617-w
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- Publication type:
- Article
Author Correction: A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies.
- Published in:
- 2019
- By:
- Publication type:
- Correction Notice
Isolation and characterization of myogenic precursor cells from human cremaster muscle.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-019-40042-6
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- Publication type:
- Article
A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies.
- Published in:
- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-33810-3
- By:
- Publication type:
- Article
Obesity and ischemic stroke modulate the methylation levels of KCNQ1 in white blood cells.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 5, p. 1432
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- Publication type:
- Article
LRRK2 delays degradative receptor trafficking by impeding late endosomal budding through decreasing Rab7 activity.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 25, p. 6779, doi. 10.1093/hmg/ddu395
- By:
- Publication type:
- Article
LRRK2 delays degradative receptor trafficking by impeding late endosomal budding through decreasing Rab7 activity.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 25, p. 1, doi. 10.1093/hmg/ddu395
- By:
- Publication type:
- Article
Large-scale recent expansion of European patrilineages shown by population resequencing.
- Published in:
- Nature Communications, 2015, v. 6, n. 5, p. 7152, doi. 10.1038/ncomms8152
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- Publication type:
- Article
Epitope mapping of antibodies to alpha-synuclein in LRRK2 mutation carriers, idiopathic Parkinson disease patients, and healthy controls.
- Published in:
- Frontiers in Aging Neuroscience, 2014, v. 6, p. 1, doi. 10.3389/fnagi.2014.00169
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- Publication type:
- Article
Epitope mapping of antibodies to alpha-synuclein in LRRK2 mutation carriers, idiopathic Parkinson disease patients and healthy controls.
- Published in:
- Frontiers in Aging Neuroscience, 2014, v. 6, p. 1, doi. 10.3389/fnagi.2014.00169
- By:
- Publication type:
- Article
The panniculus carnosus muscle: an evolutionary enigma at the intersection of distinct research fields.
- Published in:
- Journal of Anatomy, 2018, v. 233, n. 3, p. 275, doi. 10.1111/joa.12840
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- Publication type:
- Article
Age‐related cognitive decline in myotonic dystrophy type 1: An 11‐year longitudinal follow‐up study.
- Published in:
- Journal of Neuropsychology, 2020, v. 14, n. 1, p. 121, doi. 10.1111/jnp.12192
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- Publication type:
- Article
Dominant LGMD2A: alternative diagnosis or hidden digenism?
- Published in:
- 2017
- By:
- Publication type:
- letter
Targeting Myotonic Dystrophy Type 1 with Metformin.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 5, p. 2901, doi. 10.3390/ijms23052901
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- Publication type:
- Article
Allosteric Modulation of GSK-3β as a New Therapeutic Approach in Limb Girdle Muscular Dystrophy R1 Calpain 3-Related.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 14, p. 7367, doi. 10.3390/ijms22147367
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- Publication type:
- Article
Calcium Mechanisms in Limb-Girdle Muscular Dystrophy with CAPN3 Mutations.
- Published in:
- International Journal of Molecular Sciences, 2019, v. 20, n. 18, p. 4548, doi. 10.3390/ijms20184548
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- Publication type:
- Article
Impaired Mitophagy and Protein Acetylation Levels in Fibroblasts from Parkinson's Disease Patients.
- Published in:
- Molecular Neurobiology, 2019, v. 56, n. 4, p. 2466, doi. 10.1007/s12035-018-1206-6
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- Publication type:
- Article
iPS Cell Cultures from a Gerstmann-Sträussler-Scheinker Patient with the <italic>Y218N PRNP</italic> Mutation Recapitulate tau Pathology.
- Published in:
- Molecular Neurobiology, 2018, v. 55, n. 4, p. 3033, doi. 10.1007/s12035-017-0506-6
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- Publication type:
- Article
Drug‐refractory myasthenia gravis: Clinical characteristics, treatments, and outcome.
- Published in:
- Annals of Clinical & Translational Neurology, 2022, v. 9, n. 2, p. 122, doi. 10.1002/acn3.51492
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- Publication type:
- Article
Neurodegeneration trajectory in pediatric and adult/late DM1: A follow‐up MRI study across a decade.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 10, p. 1802, doi. 10.1002/acn3.51163
- By:
- Publication type:
- Article
A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 1, p. 105, doi. 10.1002/acn3.50967
- By:
- Publication type:
- Article
Acetylome in Human Fibroblasts From Parkinson's Disease Patients.
- Published in:
- Frontiers in Cellular Neuroscience, 2018, p. 1, doi. 10.3389/fncel.2018.00097
- By:
- Publication type:
- Article
Parkinson disease-associated mutations in LRRK2 cause centrosomal defects via Rab8a phosphorylation.
- Published in:
- Molecular Neurodegeneration, 2018, v. 13, p. 1, doi. 10.1186/s13024-018-0235-y
- By:
- Publication type:
- Article
Targeting TDP-43 phosphorylation by Casein Kinase-1δ inhibitors: a novel strategy for the treatment of frontotemporal dementia.
- Published in:
- Molecular Neurodegeneration, 2016, v. 11, p. 1, doi. 10.1186/s13024-016-0102-7
- By:
- Publication type:
- Article
Clinical Images: Rapidly reversible winging scapula.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Longitudinal Neuropsychological Study of Presymptomatic C.709-1G > A Progranulin Mutation Carriers.
- Published in:
- Journal of the International Neuropsychological Society, 2019, v. 25, n. 1, p. 39, doi. 10.1017/S1355617718000735
- By:
- Publication type:
- Article
Neuropsychological Features of Asymptomatic c.709-1G>A Progranulin Mutation Carriers.
- Published in:
- Journal of the International Neuropsychological Society, 2012, v. 18, n. 6, p. 1086, doi. 10.1017/S1355617712000823
- By:
- Publication type:
- Article
Neurogenetic Disorders in the Basque Population.
- Published in:
- Annals of Human Genetics, 2015, v. 79, n. 1, p. 1, doi. 10.1111/ahg.12088
- By:
- Publication type:
- Article
PARKINSON’S DISEASE-ASSOCIATED MUTATIONS IN LRRK2 CAUSE CENTROSOMAL DEFECTS VIA RAB8A PHOSPHORYLATION.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2017, v. 13, p. P1501, doi. 10.1016/j.jalz.2017.07.604
- By:
- Publication type:
- Article
P1-285: Susceptibility to Alzheimer’s disease related to ApoE, TF and HFE genes in basques
- Published in:
- 2006
- By:
- Publication type:
- Abstract
P1-285: Susceptibility to Alzheimer’s disease related to ApoE, TF and HFE genes in basques
- Published in:
- 2006
- By:
- Publication type:
- Abstract
A randomized, two-year study of the efficacy of cognitive intervention on elderly people: the Donostia Longitudinal Study.
- Published in:
- International Journal of Geriatric Psychiatry, 2008, v. 23, n. 1, p. 85, doi. 10.1002/gps.1846
- By:
- Publication type:
- Article