Found: 24
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The MAPT gene is differentially methylated in the progressive supranuclear palsy brain.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Association of corticobasal degeneration and Huntington's disease: Can Tau aggregates protect Huntingtin toxicity?
- Published in:
- Movement Disorders, 2009, v. 24, n. 7, p. 1089, doi. 10.1002/mds.22204
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- Publication type:
- Article
New syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contiguous genes.
- Published in:
- Movement Disorders, 2006, v. 21, n. 12, p. 2237, doi. 10.1002/mds.21135
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- Publication type:
- Article
Clinical and genetic evaluation in a French population presenting with primary focal dystonia.
- Published in:
- Movement Disorders, 2005, v. 20, n. 7, p. 822, doi. 10.1002/mds.20398
- By:
- Publication type:
- Article
The first identified French family with dentatorubral-pallidoluysian atrophy.
- Published in:
- 2000
- By:
- Publication type:
- journal article
Cerebrospinal fluid amyloid-β 42/40 ratio in clinical setting of memory centers: a multicentric study.
- Published in:
- Alzheimer's Research & Therapy, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13195-015-0114-5
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- Publication type:
- Article
A diagnostic scale for Alzheimer's disease based on cerebrospinal fluid biomarker profiles.
- Published in:
- Alzheimer's Research & Therapy, 2014, v. 6, n. 3, p. 1, doi. 10.1186/alzrt267
- By:
- Publication type:
- Article
Motor neuron pathology in CANVAS due to RFC1 expansions.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Diffuse form of argyrophilic grain disease: a new variant of four-repeat tauopathy different from limbic argyrophilic grain disease.
- Published in:
- Acta Neuropathologica, 2003, v. 106, n. 6, p. 575, doi. 10.1007/s00401-003-0762-6
- By:
- Publication type:
- Article
Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1198, doi. 10.1038/ejhg.2011.95
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- Publication type:
- Article
Impact of harmonization of collection tubes on Alzheimer's disease diagnosis.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2014, v. 10, n. 5, p. S390, doi. 10.1016/j.jalz.2013.06.008
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- Publication type:
- Article
MBNL1 gene variants as modifiers of disease severity in myotonic dystrophy type 1.
- Published in:
- Journal of Neurology, 2013, v. 260, n. 4, p. 998, doi. 10.1007/s00415-012-6740-y
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- Publication type:
- Article
N‐homocysteinylation of tau and MAP1 is increased in autopsy specimens of Alzheimer's disease and vascular dementia.
- Published in:
- Journal of Pathology, 2019, v. 248, n. 3, p. 291, doi. 10.1002/path.5254
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- Publication type:
- Article
The TMEM240 Protein, Mutated in SCA21, Is Expressed in Purkinje Cells and Synaptic Terminals.
- Published in:
- Cerebellum, 2020, v. 19, n. 3, p. 358, doi. 10.1007/s12311-020-01112-y
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- Publication type:
- Article
Spinocerebellar Ataxia: A Rational Approach to Aetiological Diagnosis.
- Published in:
- Cerebellum, 2012, v. 11, n. 1, p. 289, doi. 10.1007/s12311-011-0310-1
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- Publication type:
- Article
Ceruloplasmin activity and iron chelation treatment of patients with Parkinson's disease.
- Published in:
- BMC Neurology, 2015, v. 15, n. 1, p. 1, doi. 10.1186/s12883-015-0331-3
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- Publication type:
- Article
Ceruloplasmin activity and iron chelation treatment of patients with Parkinson's disease.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Reply: Cognition in SCA21 reflects developmental and adult onset cerebellar cognitive affective syndrome.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Attenuated presentation of ataxia-telangiectasia with familial cancer history.
- Published in:
- Journal of Neurology, 2008, v. 255, n. 8, p. 1261, doi. 10.1007/s00415-008-0857-z
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- Publication type:
- Article
Functional Analyses of Two Novel LRRK2 Pathogenic Variants in Familial Parkinson′s Disease.
- Published in:
- Movement Disorders, 2022, v. 37, n. 8, p. 1761, doi. 10.1002/mds.29124
- By:
- Publication type:
- Article
Insights into genotype-phenotype correlations in spinal muscular atrophy: A retrospective study of 103 patients.
- Published in:
- Muscle & Nerve, 2011, v. 43, n. 1, p. 26, doi. 10.1002/mus.21832
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- Publication type:
- Article
A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3-p15.1.
- Published in:
- Annals of Neurology, 2002, v. 52, n. 5, p. 666, doi. 10.1002/ana.10344
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- Publication type:
- Article
Dysregulation of human brain microtubule-associated tau mRNA maturation in myotonic dystrophy type 1.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 19, p. 2143, doi. 10.1093/hmg/10.19.2143
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- Publication type:
- Article
Altered splicing of Tau in DM1 is different from the foetal splicing process
- Published in:
- FEBS Letters, 2009, v. 583, n. 4, p. 675, doi. 10.1016/j.febslet.2008.12.065
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- Publication type:
- Article