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Associating Alzheimer's disease pathology with its cerebrospinal fluid biomarkers.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Construction of a PAC Contig within the Distal Hereditary Motor Neuropathy Type II Candidate Region at 12q24.
- Published in:
- Annals of the New York Academy of Sciences, 1999, v. 883, n. 1, p. 463, doi. 10.1111/j.1749-6632.1999.tb08611.x
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- Publication type:
- Article
Guanosine triphosphate cyclohydrolase 1 promoter deletion causes dopa-responsive dystonia.
- Published in:
- Movement Disorders, 2012, v. 27, n. 11, p. 1451, doi. 10.1002/mds.25147
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- Publication type:
- Article
Neurodegenerative parkinsonism and progressive external ophthalmoplegia with a Twinkle mutation.
- Published in:
- Movement Disorders, 2009, v. 24, n. 2, p. 308, doi. 10.1002/mds.22198
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- Publication type:
- Article
Genome-wide linkage of febrile seizures and epilepsy to the FEB4 locus at 5q14.3-q23.1 and no MASS1 mutation.
- Published in:
- Human Genetics, 2006, v. 118, n. 5, p. 618, doi. 10.1007/s00439-005-0077-x
- By:
- Publication type:
- Article
The TNFRSF6 gene is not implicated in familial early-onset Alzheimer's disease.
- Published in:
- Human Genetics, 2001, v. 108, n. 6, p. 552, doi. 10.1007/s004390100508
- By:
- Publication type:
- Article
Cholesterol and Triglycerides Moderate the Effect of Apolipoprotein E on Memory Functioning in Older Adults.
- Published in:
- Journals of Gerontology Series B: Psychological Sciences & Social Sciences, 2007, v. 62, n. 2, p. 112, doi. 10.1093/geronb/62.2.P112
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- Publication type:
- Article
Clinicopathological description of two cases with SQSTM1 gene mutation associated with frontotemporal dementia.
- Published in:
- Neuropathology, 2016, v. 36, n. 1, p. 27, doi. 10.1111/neup.12233
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- Publication type:
- Article
Contribution of TARDBP to Alzheimer's Disease Genetic Etiology.
- Published in:
- Journal of Alzheimer's Disease, 2010, v. 21, n. 2, p. 423, doi. 10.3233/JAD-2010-100198
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- Publication type:
- Article
Comprehensive Genetic and Mutation Analysis of Familial Dementia with Lewy Bodies Linked to 2q35-q36.
- Published in:
- Journal of Alzheimer's Disease, 2010, v. 20, n. 1, p. 197, doi. 10.3233/JAD-2010-1356
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- Publication type:
- Article
Follow-Up Study of Susceptibility Loci for Alzheimer's Disease and Onset Age Identified by Genome-Wide Association.
- Published in:
- Journal of Alzheimer's Disease, 2010, v. 19, n. 4, p. 1169, doi. 10.3233/JAD-2010-1310
- By:
- Publication type:
- Article
A Study of the SORL1 Gene in Alzheimer's Disease and Cognitive Function.
- Published in:
- Journal of Alzheimer's Disease, 2009, v. 18, n. 1, p. 51, doi. 10.3233/JAD-2009-1137
- By:
- Publication type:
- Article
Drosophila screen connects nuclear transport genes to DPR pathology in c9ALS/FTD.
- Published in:
- Scientific Reports, 2016, p. 20877, doi. 10.1038/srep20877
- By:
- Publication type:
- Article
Peripheral myelin protein 2 - a novel cluster of mutations causing Charcot-Marie-Tooth neuropathy.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Rescue of Progranulin Deficiency Associated with Frontotemporal Lobar Degeneration by Alkalizing Reagents and Inhibition of Vacuolar ATPase.
- Published in:
- Journal of Neuroscience, 2011, v. 31, n. 5, p. 1885, doi. 10.1523/JNEUROSCI.5757-10.2011
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- Publication type:
- Article
Increased caspase activation and decreased TDP-43 solubility in progranulin knockout cortical cultures.
- Published in:
- Journal of Neurochemistry, 2010, v. 115, n. 3, p. 735, doi. 10.1111/j.1471-4159.2010.06961.x
- By:
- Publication type:
- Article
Mutation (variation) databases and registries: a rationale for coordination of efforts.
- Published in:
- 2011
- By:
- Publication type:
- letter
Glucocorticoid Receptor Gene-Based SNP Analysis in Patients with Recurrent Major Depression.
- Published in:
- Neuropsychopharmacology, 2006, v. 31, n. 3, p. 620, doi. 10.1038/sj.npp.1300898
- By:
- Publication type:
- Article
Pathological mechanisms underlying TDP-43 driven neurodegeneration in FTLD–ALS spectrum disorders.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. R1, p. R77, doi. 10.1093/hmg/ddt349
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- Publication type:
- Article
Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 11, p. 2228
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- Publication type:
- Article
Current status on Alzheimer disease molecular genetics: from past, to present, to future.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. R1, p. R4, doi. 10.1093/hmg/ddq142
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- Publication type:
- Article
CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 2, p. 313, doi. 10.1093/hmg/ddm309
- By:
- Publication type:
- Article
Genomic architecture of human 17q21 linked to frontotemporal dementia uncovers a highly homologous family of low-copy repeats in the tau region.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 13, p. 1753, doi. 10.1093/hmg/ddi182
- By:
- Publication type:
- Article
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.
- Published in:
- Nature Communications, 2014, v. 5, n. 9, p. 4835, doi. 10.1038/ncomms5835
- By:
- Publication type:
- Article
No added diagnostic value of non-phosphorylated tau fraction (p-tau<sub>rel</sub>) in CSF as a biomarker for differential dementia diagnosis.
- Published in:
- Alzheimer's Research & Therapy, 2017, v. 9, p. 1, doi. 10.1186/s13195-017-0275-5
- By:
- Publication type:
- Article
NanoSatellite: accurate characterization of expanded tandem repeat length and sequence through whole genome long-read sequencing on PromethION.
- Published in:
- Genome Biology, 2019, v. 20, n. 1, p. 1, doi. 10.1186/s13059-019-1856-3
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- Publication type:
- Article
Emerging genetic complexity and rare genetic variants in neurodegenerative brain diseases.
- Published in:
- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00878-y
- By:
- Publication type:
- Article
Patients carrying the mutation p.R406W in MAPT present with non-conforming phenotypic spectrum.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 4, p. 1624, doi. 10.1093/brain/awac362
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- Publication type:
- Article
Investigating the Endo-Lysosomal System in Major Neurocognitive Disorders Due to Alzheimer's Disease, Frontotemporal Lobar Degeneration and Lewy Body Disease: Evidence for SORL1 as a Cross-Disease Gene.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 24, p. 13633, doi. 10.3390/ijms222413633
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- Publication type:
- Article
IPSC-Derived Neuronal Cultures Carrying the Alzheimer's Disease Associated TREM2 R47H Variant Enables the Construction of an Aβ-Induced Gene Regulatory Network.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 12, p. 4516, doi. 10.3390/ijms21124516
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- Publication type:
- Article
Mechanisms of Granulin Deficiency: Lessons from Cellular and Animal Models.
- Published in:
- Molecular Neurobiology, 2013, v. 47, n. 1, p. 337, doi. 10.1007/s12035-012-8380-8
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- Publication type:
- Article
Reply: ATP10B variants in Parkinson's disease—a large cohort study in Chinese mainland population.
- Published in:
- 2021
- By:
- Publication type:
- Letter
Reply: Lack of evidence supporting a role for DPP6 sequence variants in Alzheimer's disease in the European American population.
- Published in:
- Acta Neuropathologica, 2021, v. 141, n. 4, p. 625, doi. 10.1007/s00401-021-02277-4
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- Publication type:
- Article
Reply: Segregation of ATP10B variants in families with autosomal recessive Parkinsonism.
- Published in:
- Acta Neuropathologica, 2020, v. 140, n. 5, p. 787, doi. 10.1007/s00401-020-02220-z
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- Publication type:
- Article
Reply: ATP10B and the risk for Parkinson's disease.
- Published in:
- Acta Neuropathologica, 2020, v. 140, n. 3, p. 403, doi. 10.1007/s00401-020-02173-3
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- Publication type:
- Article
Mutated ATP10B increases Parkinson's disease risk by compromising lysosomal glucosylceramide export.
- Published in:
- Acta Neuropathologica, 2020, v. 139, n. 6, p. 1001, doi. 10.1007/s00401-020-02145-7
- By:
- Publication type:
- Article
Novel Alzheimer's disease risk genes: exhaustive investigation is paramount.
- Published in:
- 2019
- By:
- Publication type:
- Editorial
The role of ABCA7 in Alzheimer's disease: evidence from genomics, transcriptomics and methylomics.
- Published in:
- Acta Neuropathologica, 2019, v. 138, n. 2, p. 201, doi. 10.1007/s00401-019-01994-1
- By:
- Publication type:
- Article
Loss of DPP6 in neurodegenerative dementia: a genetic player in the dysfunction of neuronal excitability.
- Published in:
- Acta Neuropathologica, 2019, v. 137, n. 6, p. 901, doi. 10.1007/s00401-019-01976-3
- By:
- Publication type:
- Article
An intronic VNTR affects splicing of ABCA7 and increases risk of Alzheimer’s disease.
- Published in:
- Acta Neuropathologica, 2018, v. 135, n. 6, p. 827, doi. 10.1007/s00401-018-1841-z
- By:
- Publication type:
- Article
Bidirectional transcripts of the expanded <i>C9orf72</i> hexanucleotide repeat are translated into aggregating dipeptide repeat proteins.
- Published in:
- Acta Neuropathologica, 2013, v. 126, n. 6, p. 881, doi. 10.1007/s00401-013-1189-3
- By:
- Publication type:
- Article
The genetics and neuropathology of frontotemporal lobar degeneration.
- Published in:
- Acta Neuropathologica, 2012, v. 124, n. 3, p. 353, doi. 10.1007/s00401-012-1029-x
- By:
- Publication type:
- Article
Motor-neuron disease: Rogue gene in the family.
- Published in:
- Nature, 2009, v. 458, n. 7237, p. 415, doi. 10.1038/458415a
- By:
- Publication type:
- Article
Contribution of rare homozygous and compound heterozygous VPS13C missense mutations to dementia with Lewy bodies and Parkinson's disease.
- Published in:
- Acta Neuropathologica Communications, 2021, v. 9, n. 1, p. 1, doi. 10.1186/s40478-021-01121-w
- By:
- Publication type:
- Article
Genetic perspective on the synergistic connection between vesicular transport, lysosomal and mitochondrial pathways associated with Parkinson's disease pathogenesis.
- Published in:
- Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. 1, doi. 10.1186/s40478-020-00935-4
- By:
- Publication type:
- Article
TDP-43 as a possible biomarker for frontotemporal lobar degeneration: a systematic review of existing antibodies.
- Published in:
- Acta Neuropathologica Communications, 2015, v. 3, n. 1, p. 1, doi. 10.1186/s40478-015-0195-1
- By:
- Publication type:
- Article
TDP-43 as a possible biomarker for frontotemporal lobar degeneration: a systematic review of existing antibodies.
- Published in:
- Acta Neuropathologica Communications, 2015, v. 3, n. 1, p. 1, doi. 10.1186/s40478-015-0195-1
- By:
- Publication type:
- Article
Sporadic Creutzfeldt-Jakob Disease and Other Proteinopathies in Comorbidity.
- Published in:
- Frontiers in Neurology, 2020, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.596108
- By:
- Publication type:
- Article
A novel CHCHD10 mutation implicates a Mia40‐dependent mitochondrial import deficit in ALS.
- Published in:
- EMBO Molecular Medicine, 2018, v. 10, n. 6, p. 1, doi. 10.15252/emmm.201708558
- By:
- Publication type:
- Article
Founder mutation p.R1441C in the leucine-rich repeat kinase 2 gene in Belgian Parkinson's disease patients.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 4, p. 471, doi. 10.1038/sj.ejhg.5201986
- By:
- Publication type:
- Article