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A novel complete-case analysis to determine statistical significance between treatments in an intention-to-treat population of randomized clinical trials involving missing data.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 7, p. 2723, doi. 10.1093/brain/awad050
- By:
- Publication type:
- Article
ATXN2 intermediate expansions in amyotrophic lateral sclerosis.
- Published in:
- 2022
- By:
- Publication type:
- journal article
ARSA variants in α-synucleinopathies.
- Published in:
- 2019
- By:
- Publication type:
- Letter
Structural variants in Lewy body dementia and frontotemporal dementia spectrum.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, p. 1, doi. 10.1002/alz.078497
- By:
- Publication type:
- Article
Structural variants in Lewy body dementia and frontotemporal dementia spectrum.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, p. 1, doi. 10.1002/alz.078497
- By:
- Publication type:
- Article
Aldehyde dehydrogenase 1 defines and protects a nigrostriatal dopaminergic neuron subpopulation.
- Published in:
- Journal of Clinical Investigation, 2014, v. 124, n. 7, p. 3032, doi. 10.1172/JCI72176
- By:
- Publication type:
- Article
The G2385R variant of leucine-rich repeat kinase 2 associated with Parkinson’s disease is a partial loss-of-function mutation.
- Published in:
- Biochemical Journal, 2012, v. 446, n. 1, p. 99, doi. 10.1042/BJ20120637
- By:
- Publication type:
- Article
REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats.
- Published in:
- Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01085-z
- By:
- Publication type:
- Article
Longitudinal Metabolomics Profiling of Parkinson’s Disease-Related α-Synuclein A53T Transgenic Mice.
- Published in:
- PLoS ONE, 2015, v. 10, n. 8, p. 1, doi. 10.1371/journal.pone.0136612
- By:
- Publication type:
- Article
Post-Translational Decrease in Respiratory Chain Proteins in the Polg Mutator Mouse Brain.
- Published in:
- PLoS ONE, 2014, v. 9, n. 4, p. 1, doi. 10.1371/journal.pone.0094646
- By:
- Publication type:
- Article
Genome-Wide Compensatory Changes Accompany Drug- Selected Mutations in the Plasmodium falciparum crt Gene.
- Published in:
- PLoS ONE, 2008, v. 3, n. 6, p. 1, doi. 10.1371/journal.pone.0002484
- By:
- Publication type:
- Article
SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families.
- Published in:
- Neurodegenerative Diseases, 2017, v. 17, n. 4/5, p. 208, doi. 10.1159/000464445
- By:
- Publication type:
- Article
Leucine-rich repeat kinase 2 regulates Sec16A at ER exit sites to allow ER-Golgi export.
- Published in:
- EMBO Journal, 2014, v. 33, n. 20, p. 2314, doi. 10.15252/embj.201487807
- By:
- Publication type:
- Article
Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease.
- Published in:
- JAMA Neurology, 2018, v. 75, n. 11, p. 1416, doi. 10.1001/jamaneurol.2018.1885
- By:
- Publication type:
- Article
Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes.
- Published in:
- JAMA Neurology, 2018, v. 75, n. 5, p. 591, doi. 10.1001/jamaneurol.2017.5121
- By:
- Publication type:
- Article
Tau knockout exacerbates degeneration of parvalbumin-positive neurons in substantia nigra pars reticulata in Parkinson's disease-related α-synuclein A53T mice.
- Published in:
- FASEB Journal, 2020, v. 34, n. 9, p. 12239, doi. 10.1096/fj.202000017RR
- By:
- Publication type:
- Article
Role of mitofusin 2 (Mfn2) in controlling cellular proliferation.
- Published in:
- FASEB Journal, 2014, v. 28, n. 1, p. 382, doi. 10.1096/fj.13-230037
- By:
- Publication type:
- Article
A simple and efficient algorithm for genome-wide homozygosity analysis in disease.
- Published in:
- Molecular Systems Biology, 2009, v. 5, n. 1, p. 304, doi. 10.1038/msb.2009.53
- By:
- Publication type:
- Article
Characterizing a complex CT-rich haplotype in intron 4 of SNCA using large-scale targeted amplicon long-read sequencing.
- Published in:
- NPJ Parkinson's Disease, 2024, v. 10, n. 1, p. 1, doi. 10.1038/s41531-024-00749-4
- By:
- Publication type:
- Article
Profiling complex repeat expansions in RFC1 in Parkinson's disease.
- Published in:
- NPJ Parkinson's Disease, 2024, v. 10, n. 1, p. 1, doi. 10.1038/s41531-024-00723-0
- By:
- Publication type:
- Article
Genetic analysis of the X chromosome in people with Lewy body dementia nominates new risk loci.
- Published in:
- NPJ Parkinson's Disease, 2024, v. 10, n. 1, p. 1, doi. 10.1038/s41531-024-00649-7
- By:
- Publication type:
- Article
Genetic analysis of the X chromosome in people with Lewy body dementia nominates new risk loci.
- Published in:
- NPJ Parkinson's Disease, 2024, v. 10, n. 1, p. 1, doi. 10.1038/s41531-024-00649-7
- By:
- Publication type:
- Article
MIDN locus structural variants and Parkinson's Disease risk.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 4, p. 602, doi. 10.1002/acn3.51012
- By:
- Publication type:
- Article
Genome‐Wide Analysis of Structural Variants in Parkinson Disease.
- Published in:
- Annals of Neurology, 2023, v. 93, n. 5, p. 1012, doi. 10.1002/ana.26608
- By:
- Publication type:
- Article
SNCA variants are associated with increased risk for multiple system atrophy.
- Published in:
- Annals of Neurology, 2009, v. 65, n. 5, p. 610, doi. 10.1002/ana.21685
- By:
- Publication type:
- Article
Leucine-rich repeat kinase 2 controls protein kinase A activation state through phosphodiesterase 4.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Exploring dementia and neuronal ceroid lipofuscinosis genes in 100 FTD-like patients from 6 towns and rural villages on the Adriatic Sea cost of Apulia.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-85494-x
- By:
- Publication type:
- Article
LRRK2 modulates microglial activity through regulation of chemokine (C-X3-C) receptor 1 -mediated signalling pathways.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 16, p. 3515, doi. 10.1093/hmg/ddw194
- By:
- Publication type:
- Article
Selective expression of Parkinson's disease-related Leucine-rich repeat kinase 2 G2019Smissensemutation in midbrain dopaminergic neurons impairs dopamine release and dopaminergic gene expression.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 18, p. 5299, doi. 10.1093/hmg/ddv249
- By:
- Publication type:
- Article
A calcineurin- and NFAT-dependent pathway is involved in α-synuclein-induced degeneration of midbrain dopaminergic neurons.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 24, p. 6567, doi. 10.1093/hmg/ddu377
- By:
- Publication type:
- Article
Hexokinase activity is required for recruitment of parkin to depolarized mitochondria.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 1, p. 145, doi. 10.1093/hmg/ddt407
- By:
- Publication type:
- Article
MicroRNA-205 regulates the expression of Parkinson's disease-related leucine-rich repeat kinase 2 protein.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 3, p. 608, doi. 10.1093/hmg/dds470
- By:
- Publication type:
- Article
Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer’s Disease.
- Published in:
- PLoS ONE, 2016, v. 11, n. 6, p. 1, doi. 10.1371/journal.pone.0150079
- By:
- Publication type:
- Article
Long‐Read Sequencing Resolves a Complex Structural Variant in PRKN Parkinson's Disease.
- Published in:
- Movement Disorders, 2023, v. 38, n. 12, p. 2249, doi. 10.1002/mds.29610
- By:
- Publication type:
- Article
Profiling the NOTCH2NLC GGC Repeat Expansion in Parkinson's Disease in the European Population.
- Published in:
- Movement Disorders, 2022, v. 37, n. 10, p. 2161, doi. 10.1002/mds.29155
- By:
- Publication type:
- Article
The Parkinson's Disease DNA Variant Browser.
- Published in:
- Movement Disorders, 2021, v. 36, n. 5, p. 1250, doi. 10.1002/mds.28488
- By:
- Publication type:
- Article
Shared Genetics of Multiple System Atrophy and Inflammatory Bowel Disease.
- Published in:
- Movement Disorders, 2021, v. 36, n. 2, p. 449, doi. 10.1002/mds.28338
- By:
- Publication type:
- Article
Genetic ablation of dynactin p150<sup>Glued</sup> in postnatal neurons causes preferential degeneration of spinal motor neurons in aged mice.
- Published in:
- Molecular Neurodegeneration, 2018, v. 13, p. 1, doi. 10.1186/s13024-018-0242-z
- By:
- Publication type:
- Article
Unbalanced calcium channel activity underlies selective vulnerability of nigrostriatal dopaminergic terminals in Parkinsonian mice.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-019-41091-7
- By:
- Publication type:
- Article
ALDH1A1 regulates postsynaptic μ-opioid receptor expression in dorsal striatal projection neurons and mitigates dyskinesia through transsynaptic retinoic acid signaling.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-019-40326-x
- By:
- Publication type:
- Article
Meta-analysis of elastic versus rigid fixation in the treatment of acute tibiofibular syndesmosis injury.
- Published in:
- Systematic Reviews, 2024, v. 13, n. 1, p. 1, doi. 10.1186/s13643-023-02448-2
- By:
- Publication type:
- Article
Meta-analysis of elastic versus rigid fixation in the treatment of acute tibiofibular syndesmosis injury.
- Published in:
- 2024
- By:
- Publication type:
- Letter
A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 8, p. 1524, doi. 10.1093/hmg/ddp059
- By:
- Publication type:
- Article
A genome-wide association study of sporadic ALS in a homogenous Irish population.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 5, p. 768
- By:
- Publication type:
- Article
Inhibition of p38α MAPK restores neuronal p38γ MAPK and ameliorates synaptic degeneration in a mouse model of DLB/PD.
- Published in:
- Science Translational Medicine, 2023, v. 15, n. 695, p. 1, doi. 10.1126/scitranslmed.abq6089
- By:
- Publication type:
- Article
Function and Regulation of ALDH1A1-Positive Nigrostriatal Dopaminergic Neurons in Motor Control and Parkinson's Disease.
- Published in:
- Frontiers in Neural Circuits, 2021, v. 15, p. N.PAG, doi. 10.3389/fncir.2021.644776
- By:
- Publication type:
- Article
Mutations in LRRK2/dardarin associated with Parkinson disease are more toxic than equivalent mutations in the homologous kinase LRRK1.
- Published in:
- Journal of Neurochemistry, 2007, v. 102, n. 1, p. 93, doi. 10.1111/j.1471-4159.2007.04523.x
- By:
- Publication type:
- Article
Alsin and the Molecular Pathways of Amyotrophic Lateral Sclerosis.
- Published in:
- Molecular Neurobiology, 2007, v. 36, n. 3, p. 224, doi. 10.1007/s12035-007-0034-x
- By:
- Publication type:
- Article
Corrosion and stress corrosion cracking behavior of 316L austenitic stainless steel in high H<sub>2</sub>S-CO<sub>2</sub>-Cl<sup>-</sup> environment.
- Published in:
- Journal of Materials Science, 2013, v. 48, n. 10, p. 3708, doi. 10.1007/s10853-013-7168-1
- By:
- Publication type:
- Article