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Historical Perspective of Defining Charcot-Marie-Tooth Type 1B.
- Published in:
- Annals of the New York Academy of Sciences, 1999, v. 883, n. 1, p. 6, doi. 10.1111/j.1749-6632.1999.tb08561.x
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- Publication type:
- Article
ADCY5-related dyskinesia: Comments on characteristic manifestations and variant-associated severity.
- Published in:
- 2017
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- Publication type:
- letter
A novel X-linked four-repeat tauopathy with Parkinsonism and spasticity.
- Published in:
- Movement Disorders, 2010, v. 25, n. 10, p. 1409, doi. 10.1002/mds.23085
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- Publication type:
- Article
Profile of families with parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2).
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- Movement Disorders, 2004, v. 19, n. 6, p. 622, doi. 10.1002/mds.20074
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- Publication type:
- Article
Familial dyskinesia and facial myokymia.
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- Movement Disorders, 2002, v. 17, n. 4, p. 747, doi. 10.1002/mds.10213
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- Publication type:
- Article
Hereditary benign chorea.
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- Movement Disorders, 2002, v. 17, n. 4, p. 746, doi. 10.1002/mds.10181
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- Publication type:
- Article
Spinal cord‐predominant neuropathology in an adult‐onset case of POLR3A‐related spastic ataxia.
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- Neuropathology, 2022, v. 42, n. 1, p. 58, doi. 10.1111/neup.12775
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- Publication type:
- Article
Heritability of Different Forms of Memory in the Late Onset Alzheimer's Disease Family Study.
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- Journal of Alzheimer's Disease, 2011, v. 23, n. 2, p. 249, doi. 10.3233/JAD-2010-101515
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- Publication type:
- Article
Heritability of different forms of memory in the Late Onset Alzheimer's Disease Family Study.
- Published in:
- 2011
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- Publication type:
- journal article
Untitled.
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- Review Americana: A Literary Journal, 2022, v. 17, n. 1, p. N.PAG
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- Publication type:
- Article
The Seattle Alzheimer's disease data set.
- Published in:
- Genetic Epidemiology, 1993, v. 10, n. 6, p. 365, doi. 10.1002/gepi.1370100606
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- Article
Accounting for Linkage Disequilibrium among Markers in Linkage Analysis: Impact of Haplotype Frequency Estimation and Molecular Haplotypes for a Gene in a Candidate Region for Alzheimer’s Disease.
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- Human Heredity, 2007, v. 63, n. 1, p. 26, doi. 10.1159/000098459
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- Publication type:
- Article
Wnt/β-catenin signaling suppresses DUX4 expression and prevents apoptosis of FSHD muscle cells.
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- Human Molecular Genetics, 2013, v. 22, n. 23, p. 4661, doi. 10.1093/hmg/ddt314
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- Publication type:
- Article
Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS).
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- Human Molecular Genetics, 2013, v. 22, n. 16, p. 3259, doi. 10.1093/hmg/ddt180
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- Publication type:
- Article
A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult.
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- Human Molecular Genetics, 2012, v. 21, n. 26, p. 5472, doi. 10.1093/hmg/dds392
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- Publication type:
- Article
Identification of novel susceptibility loci for Guam neurodegenerative disease: challenges of genome scans in genetic isolates.
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- Human Molecular Genetics, 2009, v. 18, n. 19, p. 3725, doi. 10.1093/hmg/ddp300
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- Publication type:
- Article
Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy.
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- Human Molecular Genetics, 2009, v. 18, n. 7, p. 1200, doi. 10.1093/hmg/ddp014
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- Publication type:
- Article
Two sites in the MAPT region confer genetic risk for Guam ALS/PDC and dementia.
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- Human Molecular Genetics, 2007, v. 16, n. 3, p. 295, doi. 10.1093/hmg/ddl463
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- Publication type:
- Article
Aβ and tau prion-like activities decline with longevity in the Alzheimer's disease human brain.
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- Science Translational Medicine, 2019, v. 11, n. 490, p. N.PAG, doi. 10.1126/scitranslmed.aat8462
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- Publication type:
- Article
Book Review: Ataxia-Telangiectasia: Genetics, Neuropathology and Immunology of a Degenerative Disease of Childhood, Kroc Foundation Series, Volume 19, edited by R. A. Gatti and M. Swift. Published in 1985 by Allen R. Liss, New York, 430 pages, $79.00.
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- Journal of Child Neurology, 1987, v. 2, n. 3, p. 236, doi. 10.1177/088307388700200318
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- Publication type:
- Article
TREM2 variants that cause early dementia and increase Alzheimer's disease risk affect gene splicing.
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- Brain: A Journal of Neurology, 2024, v. 147, n. 7, p. 2368, doi. 10.1093/brain/awae014
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- Publication type:
- Article
Aberrant splicing of PSEN2, but not PSEN1, in individuals with sporadic Alzheimer's disease.
- Published in:
- 2023
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- Publication type:
- journal article
Amyloid‐Related Imaging Abnormalities in the DIAN‐TU‐001 Trial of Gantenerumab and Solanezumab: Lessons from a Trial in Dominantly Inherited Alzheimer Disease.
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- Annals of Neurology, 2022, v. 92, n. 5, p. 729, doi. 10.1002/ana.26511
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- Publication type:
- Article
Congenital insensitivity to pain with anhidrosis.
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- Annals of Neurology, 2015, v. 78, n. 3, p. 500, doi. 10.1002/ana.24450
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- Publication type:
- Article
CDC7 inhibition blocks pathological TDP-43 phosphorylation and neurodegeneration.
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- Annals of Neurology, 2013, v. 74, n. 1, p. 39, doi. 10.1002/ana.23870
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- Publication type:
- Article
Neuronal loss in Pelizaeus–Merzbacher disease differs in various mutations of the proteolipid protein 1.
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- Acta Neuropathologica, 2009, v. 118, n. 4, p. 531, doi. 10.1007/s00401-009-0562-8
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- Publication type:
- Article
A patient with Huntington’s disease and long-surviving fetal neural transplants that developed mass lesions.
- Published in:
- 2009
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- Publication type:
- Report
Hyperphosphorylated Tau, Increased Adenylate Cyclase 5 (ADCY5) Immunoreactivity, but No Neuronal Loss in ADCY5‐Dyskinesia.
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- Movement Disorders Clinical Practice, 2020, v. 7, n. 1, p. 70, doi. 10.1002/mdc3.12873
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- Publication type:
- Article
Adult onset pan-neuronal human tau tubulin kinase 1 expression causes severe cerebellar neurodegeneration in mice.
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- Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1186/s40478-020-01073-7
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- Publication type:
- Article
Pathological phosphorylation of tau and TDP-43 by TTBK1 and TTBK2 drives neurodegeneration.
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- Molecular Neurodegeneration, 2018, v. 13, p. 1, doi. 10.1186/s13024-018-0237-9
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- Publication type:
- Article
Letters to the editor.
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- Muscle & Nerve, 1982, v. 5, n. 2, p. 178, doi. 10.1002/mus.880050217
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- Publication type:
- Article
Familial alzheimer's disease in american descendants of the volga germans: Probable genetic founder effect.
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- Annals of Neurology, 1988, v. 23, n. 1, p. 25, doi. 10.1002/ana.410230106
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- Publication type:
- Article
Neuronal intranuclear inclusion disease in two adult siblings.
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- Annals of Neurology, 1985, v. 17, n. 2, p. 212, doi. 10.1002/ana.410170223
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- Publication type:
- Article
Pattern-reversal visual evoked potentials in the hereditary ataxias and spinal degenerations.
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- Annals of Neurology, 1981, v. 9, n. 3, p. 243, doi. 10.1002/ana.410090307
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- Publication type:
- Article
Neurological manifestations of fabry disease in female carriers.
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- Annals of Neurology, 1978, v. 4, n. 6, p. 537, doi. 10.1002/ana.410040610
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- Publication type:
- Article
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.
- Published in:
- Nature Genetics, 2011, v. 43, n. 5, p. 436, doi. 10.1038/ng.801
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- Publication type:
- Article
Mutations in SEPT9 cause hereditary neuralgic amyotrophy.
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- Nature Genetics, 2005, v. 37, n. 10, p. 1044, doi. 10.1038/ng1649
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- Publication type:
- Article
Alteration in calcium channel properties is responsible for the neurotoxic action of a familial frontotemporal dementia tau mutation.
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- Journal of Neurochemistry, 2003, v. 87, n. 2, p. 427, doi. 10.1046/j.1471-4159.2003.02020.x
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- Publication type:
- Article
The Tau Tubulin Kinases TTBK1/2 Promote Accumulation of Pathological TDP-43.
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- PLoS Genetics, 2014, v. 10, n. 12, p. 1, doi. 10.1371/journal.pgen.1004803
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- Publication type:
- Article
Genome-Wide Association of Familial Late-Onset Alzheimer's Disease Replicates BIN1 and CLU and Nominates CUGBP2 in Interaction with APOE.
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- PLoS Genetics, 2011, v. 7, n. 2, p. 1, doi. 10.1371/journal.pgen.1001308
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- Publication type:
- Article
Familial Idiopathic Basal Ganglia Calcification: A Father-Son Dyad Demonstrate Heterogeneity of Presentation and Disease Progression.
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- Archives of Clinical Neuropsychology, 2022, v. 37, n. 1, p. 217, doi. 10.1093/arclin/acab026
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- Publication type:
- Article
R47H Variant of TREM2 Associated With Alzheimer Disease in a Large Late-Onset Family.
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- JAMA Dermatology, 2015, v. 151, n. 8, p. 920, doi. 10.1001/jamaneurol.2015.0979
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- Publication type:
- Article
C9orf72 Hexanucleotide Repeat in Huntington-Like Patients: Systematic Review and Meta-Analysis.
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- Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.551780
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- Publication type:
- Article
Unusually long duration and delayed penetrance in a family with FTD and mutation in MAPT (V337M).
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- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2017, v. 174, n. 1, p. 70, doi. 10.1002/ajmg.b.32443
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- Publication type:
- Article
Genetic factors in neurodegenerative diseases.
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- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2017, v. 174, n. 1, p. 3, doi. 10.1002/ajmg.b.32504
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- Publication type:
- Article
The discovery of LRRK2 p.R1441S, a novel mutation for Parkinson's disease, adds to the complexity of a mutational hotspot.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2017, v. 174, n. 1, p. 113, doi. 10.1002/ajmg.b.32510
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- Publication type:
- Article
Cover Image, Volume 174B, Number 1, January 2017.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2017, v. 174, n. 1, p. i, doi. 10.1002/ajmg.b.32517
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- Publication type:
- Article
The discovery of LRRK2 p.R1441S, a novel mutation for Parkinson's disease, adds to the complexity of a mutational hotspot.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2016, v. 171B, n. 7, p. 925, doi. 10.1002/ajmg.b.32452
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- Publication type:
- Article
Genome Scan in Familial Late-Onset Alzheimer's Disease: A Locus on Chromosome 6 Contributes to Age-at-Onset.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2013, v. 162B, n. 2, p. 201, doi. 10.1002/ajmg.b.32133
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- Publication type:
- Article
P4‐233: AGED ALZHEIMER'S DISEASE BRAINS EXHIBIT NUMEROUS Aβ BUT ONLY FEW TAU PRIONS.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2018, v. 14, p. P1531, doi. 10.1016/j.jalz.2018.07.054
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- Publication type:
- Article