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Understanding the role of genetic variability in LRRK2 in Indian population.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Screening of mutations in GNAL in sporadic dystonia patients.
- Published in:
- Movement Disorders, 2014, v. 29, n. 9, p. 1193, doi. 10.1002/mds.25794
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- Publication type:
- Article
Lack of sequence variations in THAP1 gene and THAP1-binding sites in TOR1A promoter of DYT1 patients.
- Published in:
- Movement Disorders, 2012, v. 27, n. 7, p. 917, doi. 10.1002/mds.24974
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- Publication type:
- Article
Prevalence of THAP1 sequence variants in German patients with primary dystonia.
- Published in:
- Movement Disorders, 2010, v. 25, n. 12, p. 1982, doi. 10.1002/mds.23207
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- Publication type:
- Article
Mutations in TITF1 are not relevant to sporadic and familial chorea of unknown cause.
- Published in:
- Movement Disorders, 2006, v. 21, n. 10, p. 1734, doi. 10.1002/mds.21031
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- Publication type:
- Article
Lack of mutations in the epsilon-sarcoglycan gene in patients with different subtypes of primary dystonias.
- Published in:
- Movement Disorders, 2004, v. 19, n. 11, p. 1294, doi. 10.1002/mds.20128
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- Publication type:
- Article
Age at onset in Huntington’s disease is modified by the autophagy pathway: implication of the V471A polymorphism in Atg7.
- Published in:
- Human Genetics, 2010, v. 128, n. 4, p. 453, doi. 10.1007/s00439-010-0873-9
- By:
- Publication type:
- Article
Genetic background of apparently idiopathic sporadic cerebellar ataxia.
- Published in:
- Human Genetics, 2000, v. 107, n. 2, p. 132, doi. 10.1007/s004390000346
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- Publication type:
- Article
Evidences for Mutant Huntingtin Inducing Musculoskeletal and Brain Growth Impairments via Disturbing Testosterone Biosynthesis in Male Huntington Disease Animals.
- Published in:
- Cells (2073-4409), 2022, v. 11, n. 23, p. 3779, doi. 10.3390/cells11233779
- By:
- Publication type:
- Article
Intranasal Administration of Mesenchymal Stem Cells Ameliorates the Abnormal Dopamine Transmission System and Inflammatory Reaction in the R6/2 Mouse Model of Huntington Disease.
- Published in:
- Cells (2073-4409), 2019, v. 8, n. 6, p. 595, doi. 10.3390/cells8060595
- By:
- Publication type:
- Article
Early Alterations in Operant Performance and Prominent Huntingtin Aggregation in a Congenic F344 Rat Line of the Classical CAG<sub>n51trunc</sub> Model of Huntington Disease.
- Published in:
- Frontiers in Neuroscience, 2018, p. 1, doi. 10.3389/fnins.2018.00011
- By:
- Publication type:
- Article
A Novel Transgenic Rat Model for Spinocerebellar Ataxia Type 17 Recapitulates Neuropathological Changes and Supplies In Vivo Imaging Biomarkers.
- Published in:
- Journal of Neuroscience, 2013, v. 33, n. 21, p. 9068, doi. 10.1523/JNEUROSCI.5622-12.2013
- By:
- Publication type:
- Article
A Novel BACHD Transgenic Rat Exhibits Characteristic Neuropathological Features of Huntington Disease.
- Published in:
- Journal of Neuroscience, 2012, v. 32, n. 44, p. 15426, doi. 10.1523/JNEUROSCI.1148-12.2012
- By:
- Publication type:
- Article
Behavioral and In Vivo Electrophysiological Evidence for Presymptomatic Alteration of Prefrontostriatal Processing in the Transgenic Rat Model for Huntington Disease.
- Published in:
- Journal of Neuroscience, 2011, v. 31, n. 24, p. 8986, doi. 10.1523/JNEUROSCI.1238-11.2011
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- Publication type:
- Article
Cholesterol Defect Is Marked across Multiple Rodent Models of Huntington's Disease and Is Manifest in Astrocytes.
- Published in:
- Journal of Neuroscience, 2010, v. 30, n. 32, p. 10844, doi. 10.1523/JNEUROSCI.0917-10.2010
- By:
- Publication type:
- Article
Regional and subtype selective changes of neurotransmitter receptor density in a rat transgenic for the Huntington's disease mutation.
- Published in:
- 2005
- By:
- Publication type:
- Correction notice
Regional and subtype selective changes of neurotransmitter receptor density in a rat transgenic for the Huntington's disease mutation.
- Published in:
- Journal of Neurochemistry, 2005, v. 94, n. 3, p. 639, doi. 10.1111/j.1471-4159.2005.03169.x
- By:
- Publication type:
- Article
Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47).
- Published in:
- Neurogenetics, 2012, v. 13, n. 1, p. 73, doi. 10.1007/s10048-012-0314-0
- By:
- Publication type:
- Article
Periphilin is a novel interactor of synphilin-1, a protein implicated in Parkinson's disease.
- Published in:
- Neurogenetics, 2010, v. 11, n. 2, p. 203, doi. 10.1007/s10048-009-0215-z
- By:
- Publication type:
- Article
Transgenic overexpression of the alpha-synuclein interacting protein synphilin-1 leads to behavioral and neuropathological alterations in mice.
- Published in:
- Neurogenetics, 2010, v. 11, n. 1, p. 107, doi. 10.1007/s10048-009-0212-2
- By:
- Publication type:
- Article
Identification of a heterozygous genomic deletion in the spatacsin gene in SPG11 patients using high-resolution comparative genomic hybridization.
- Published in:
- Neurogenetics, 2009, v. 10, n. 1, p. 43, doi. 10.1007/s10048-008-0144-2
- By:
- Publication type:
- Article
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing.
- Published in:
- Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00485-5
- By:
- Publication type:
- Article
Case Report: Combined CDK4/6 and MEK Inhibition in Refractory CDKN2A and NRAS Mutant Melanoma.
- Published in:
- Frontiers in Oncology, 2021, v. 11, p. N.PAG, doi. 10.3389/fonc.2021.643156
- By:
- Publication type:
- Article
Overexpression of the calpain-specific inhibitor calpastatin reduces human alpha-Synuclein processing, aggregation and synaptic impairment in [A30P]αSyn transgenic mice.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 15, p. 3975, doi. 10.1093/hmg/ddu112
- By:
- Publication type:
- Article
Overexpression of synphilin-1 promotes clearance of soluble and misfolded alpha-synuclein without restoring the motor phenotype in aged A30P transgenic mice.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 3, p. 767, doi. 10.1093/hmg/ddt467
- By:
- Publication type:
- Article
Calpain-mediated ataxin-3 cleavage in the molecular pathogenesis of spinocerebellar ataxia type 3 (SCA3).
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 3, p. 508, doi. 10.1093/hmg/dds449
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- Publication type:
- Article
Dissecting the role of the mitochondrial chaperone mortalin in Parkinson's disease: functional impact of disease-related variants on mitochondrial homeostasis.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 22, p. 4437, doi. 10.1093/hmg/ddq370
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- Publication type:
- Article
Reversibility of symptoms in a conditional mouse model of spinocerebellar ataxia type 3.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 22, p. 4282, doi. 10.1093/hmg/ddp381
- By:
- Publication type:
- Article
Sex differences in a transgenic rat model of Huntington's disease: decreased 17β-estradiol levels correlate with reduced numbers of DARPP32+ neurons in males.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 17, p. 2595, doi. 10.1093/hmg/ddn159
- By:
- Publication type:
- Article
Huntingtin-associated protein-1 is a modifier of the age-at-onset of Huntington's disease.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 8, p. 1137, doi. 10.1093/hmg/ddn003
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- Publication type:
- Article
Behavioral abnormalities precede neuropathological markers in rats transgenic for Huntington's disease.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 21, p. 3177, doi. 10.1093/hmg/ddl394
- By:
- Publication type:
- Article
Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 15, p. 2099, doi. 10.1093/hmg/ddi215
- By:
- Publication type:
- Article
Multi-omics discovery of exome-derived neoantigens in hepatocellular carcinoma.
- Published in:
- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0636-8
- By:
- Publication type:
- Article
International Charter of principles for sharing bio-specimens and data.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 6, p. 721, doi. 10.1038/ejhg.2014.197
- By:
- Publication type:
- Article
Genome-wide UPD screening in patients with intellectual disability.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 10, p. 1233, doi. 10.1038/ejhg.2014.63
- By:
- Publication type:
- Article
Mitochondrial Morphology, Function and Homeostasis Are Impaired by Expression of an N-terminal Calpain Cleavage Fragment of Ataxin-3.
- Published in:
- Frontiers in Molecular Neuroscience, 2018, p. N.PAG, doi. 10.3389/fnmol.2018.00368
- By:
- Publication type:
- Article
Präkonzeptionelle und vorgeburtliche klinische Genomsequenzierung.
- Published in:
- Medizinische Genetik, 2014, v. 26, n. 4, p. 405, doi. 10.1007/s11825-014-0023-1
- By:
- Publication type:
- Article
Genetik erblicher Bewegungsstörungen.
- Published in:
- 2013
- By:
- Publication type:
- Editorial
Overexpression of human alpha-Synuclein leads to dysregulated microbiome/metabolites with ageing in a rat model of Parkinson disease.
- Published in:
- Molecular Neurodegeneration, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13024-023-00628-1
- By:
- Publication type:
- Article
DYT6 mutated THAP1 is a cell type dependent regulator of the SP1 family.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Erratum to: Glycation potentiates α-synuclein-associated neurodegeneration in synucleinopathies.
- Published in:
- 2021
- By:
- Publication type:
- corrected article
Metformin reverses TRAP1 mutation-associated alterations in mitochondrial function in Parkinson's disease.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Glycation potentiates α-synuclein-associated neurodegeneration in synucleinopathies.
- Published in:
- 2017
- By:
- Publication type:
- journal article
A combinatorial approach to identify calpain cleavage sites in the Machado-Joseph disease protein ataxin-3.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Neuropathology of the Basal Ganglia in SNCA Transgenic Rat Model of Parkinson's Disease: Involvement of Parvalbuminergic Interneurons and Glial-Derived Neurotropic Factor.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 17, p. 10126, doi. 10.3390/ijms231710126
- By:
- Publication type:
- Article
Mitochondrial Dysfunction in Spinocerebellar Ataxia Type 3 Is Linked to VDAC1 Deubiquitination.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 11, p. 5933, doi. 10.3390/ijms23115933
- By:
- Publication type:
- Article
First case report of malignant peritoneal mesothelioma and oral verrucous carcinoma in a patient with a germline PTEN mutation: a combination of extremely rare diseases with probable further implications.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
The impact of an audience response system on a summative assessment, a controlled field study.
- Published in:
- BMC Medical Education, 2020, v. 20, n. 1, p. 1, doi. 10.1186/s12909-020-02130-4
- By:
- Publication type:
- Article
Whole genome expression analyses of single- and double-knock-out mice implicate partially overlapping functions of alpha- and gamma-synuclein.
- Published in:
- Neurogenetics, 2007, v. 8, n. 2, p. 71, doi. 10.1007/s10048-007-0079-z
- By:
- Publication type:
- Article
TR-FRET-Based Immunoassay to Measure Ataxin-2 as a Target Engagement Marker in Spinocerebellar Ataxia Type 2.
- Published in:
- Molecular Neurobiology, 2023, v. 60, n. 6, p. 3553, doi. 10.1007/s12035-023-03294-y
- By:
- Publication type:
- Article