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Central motor conduction time as prodromal biomarker in spinocerebellar ataxia type 2.
- Published in:
- 2016
- By:
- Publication type:
- letter
Spinocerebellar ataxia type 2: Measures of saccade changes improve power for clinical trials.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Mutations in CIZ1 are not a major cause for dystonia in Germany.
- Published in:
- Movement Disorders, 2015, v. 30, n. 5, p. 740, doi. 10.1002/mds.26198
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- Publication type:
- Article
DYT7 gene locus for cervical dystonia on chromosome 18p is questionable.
- Published in:
- Movement Disorders, 2012, v. 27, n. 14, p. 1820, doi. 10.1002/mds.25219
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- Publication type:
- Article
Subthalamic-thalamic DBS in a case with spinocerebellar ataxia type 2 and severe tremor-A unusual clinical benefit.
- Published in:
- Movement Disorders, 2007, v. 22, n. 5, p. 732, doi. 10.1002/mds.21338
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- Publication type:
- Article
In Cerebellar Atrophy of 12-Month-Old ATM-Null Mice, Transcriptome Upregulations Concern Most Neurotransmission and Neuropeptide Pathways, While Downregulations Affect Prominently Itpr1, Usp2 and Non-Coding RNA.
- Published in:
- Cells (2073-4409), 2023, v. 12, n. 19, p. 2399, doi. 10.3390/cells12192399
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- Publication type:
- Article
CLPP Depletion Causes Diplotene Arrest; Underlying Testis Mitochondrial Dysfunction Occurs with Accumulation of Perrault Proteins ERAL1, PEO1, and HARS2.
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- Cells (2073-4409), 2023, v. 12, n. 1, p. 52, doi. 10.3390/cells12010052
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- Publication type:
- Article
The Bacterial ClpXP-ClpB Family Is Enriched with RNA-Binding Protein Complexes.
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- Cells (2073-4409), 2022, v. 11, n. 15, p. 2370, doi. 10.3390/cells11152370
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- Publication type:
- Article
Inactivity of Peptidase ClpP Causes Primary Accumulation of Mitochondrial Disaggregase ClpX with Its Interacting Nucleoid Proteins, and of mtDNA.
- Published in:
- Cells (2073-4409), 2021, v. 10, n. 12, p. 3354, doi. 10.3390/cells10123354
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- Publication type:
- Article
Systematic Surveys of Iron Homeostasis Mechanisms Reveal Ferritin Superfamily and Nucleotide Surveillance Regulation to be Modified by PINK1 Absence.
- Published in:
- Cells (2073-4409), 2020, v. 9, n. 10, p. 2229, doi. 10.3390/cells9102229
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- Publication type:
- Article
Experimental Induction of Intracranial Aneurysms in Rats: A New Model Utilizing a Genetic Modification within the EDNRA Gene.
- Published in:
- Brain Sciences (2076-3425), 2022, v. 12, n. 9, p. 1239, doi. 10.3390/brainsci12091239
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- Publication type:
- Article
The mitochondrial kinase PINK1, stress response and Parkinsonâs disease.
- Published in:
- Journal of Bioenergetics & Biomembranes, 2009, v. 41, n. 6, p. 481, doi. 10.1007/s10863-009-9256-0
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- Publication type:
- Article
Alpha-synuclein deficiency leads to increased glyoxalase I expression and glycation stress.
- Published in:
- Cellular & Molecular Life Sciences, 2011, v. 68, n. 4, p. 721, doi. 10.1007/s00018-010-0483-7
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- Publication type:
- Article
Subthalamic Lesion or Levodopa Treatment Rescues Giant GABAergic Currents of PINK 1-Deficient Striatum.
- Published in:
- Journal of Neuroscience, 2012, v. 32, n. 50, p. 18047, doi. 10.1523/JNEUROSCI.2474-12.2012
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- Publication type:
- Article
Loss-of-Function of Human PINK1 Results in Mitochondrial Pathology and Can Be Rescued by Parkin.
- Published in:
- Journal of Neuroscience, 2007, v. 27, n. 45, p. 12413, doi. 10.1523/JNEUROSCI.0719-07.2007
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- Publication type:
- Article
Increased presence of nuclear DNAJA3 and upregulation of cytosolic STAT1 and of nucleic acid sensors trigger innate immunity in the ClpP-null mouse.
- Published in:
- Neurogenetics, 2021, v. 22, n. 4, p. 297, doi. 10.1007/s10048-021-00657-2
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- Publication type:
- Article
Welcoming articles on genotype-dependent clinical features and diagnostics.
- Published in:
- 2021
- By:
- Publication type:
- Editorial
Loss of mitochondrial ClpP, Lonp1, and Tfam triggers transcriptional induction of Rnf213, a susceptibility factor for moyamoya disease.
- Published in:
- Neurogenetics, 2020, v. 21, n. 3, p. 187, doi. 10.1007/s10048-020-00609-2
- By:
- Publication type:
- Article
Ataxia telangiectasia alters the ApoB and reelin pathway.
- Published in:
- Neurogenetics, 2018, v. 19, n. 4, p. 237, doi. 10.1007/s10048-018-0557-5
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- Publication type:
- Article
Developing the field of neurogenetics.
- Published in:
- 2017
- By:
- Publication type:
- Editorial
The PD-associated alpha-synuclein promoter Rep1 allele 2 shows diminished frequency in restless legs syndrome.
- Published in:
- Neurogenetics, 2014, v. 15, n. 3, p. 189, doi. 10.1007/s10048-014-0407-z
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- Publication type:
- Article
Dysregulated expression of lipid storage and membrane dynamics factors in Tia1 knockout mouse nervous tissue.
- Published in:
- Neurogenetics, 2014, v. 15, n. 2, p. 135, doi. 10.1007/s10048-014-0397-x
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- Publication type:
- Article
Age-related dysfunction of the autophago-lysosomal pathway in human endothelial cells.
- Published in:
- Pflügers Archiv: European Journal of Physiology, 2019, v. 471, n. 8, p. 1065, doi. 10.1007/s00424-019-02288-x
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- Publication type:
- Article
Search for the Chromosomal Location of Autosomal Dominant Cerebellar Ataxia from Holguin, Cuba: Exclusion from Candidate Regions on Chromosome 4 and 11q.
- Published in:
- Human Heredity, 1993, v. 43, n. 1, p. 12, doi. 10.1159/000154107
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- Publication type:
- Article
Potentiation of neurotoxicity in double-mutant mice with Pink1 ablation and A53T-SNCA overexpression.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 4, p. 1061, doi. 10.1093/hmg/ddu520
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- Publication type:
- Article
Loss of mitochondrial peptidase Clpp leads to infertility, hearing loss plus growth retardation via accumulation of CLPX, mtDNA and inflammatory factors.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 24, p. 4871, doi. 10.1093/hmg/ddt338
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- Publication type:
- Article
Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 9, p. 1697, doi. 10.1093/hmg/ddr045
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- Publication type:
- Article
Insulin receptor and lipid metabolism pathology in ataxin-2 knock-out mice.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 10, p. 1465, doi. 10.1093/hmg/ddn035
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- Publication type:
- Article
The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 24, p. 3161, doi. 10.1093/hmg/ddh330
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- Publication type:
- Article
Methyl-Arginine Profile of Brain from Aged PINK1-KO+A53T-SNCA Mice Suggests Altered Mitochondrial Biogenesis.
- Published in:
- Parkinson's Disease (20420080), 2016, p. 1, doi. 10.1155/2016/4686185
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- Publication type:
- Article
Translation Fidelity and Respiration Deficits in CLPP-Deficient Tissues: Mechanistic Insights from Mitochondrial Complexome Profiling.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 24, p. 17503, doi. 10.3390/ijms242417503
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- Publication type:
- Article
Mouse Ataxin-2 Expansion Downregulates CamKII and Other Calcium Signaling Factors, Impairing Granule—Purkinje Neuron Synaptic Strength.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 18, p. 6673, doi. 10.3390/ijms21186673
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- Publication type:
- Article
Mid-Gestation lethality of Atxn2l-Ablated Mice.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 14, p. 5124, doi. 10.3390/ijms21145124
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- Publication type:
- Article
The RNA-Binding Protein ATXN2 is Expressed during Megakaryopoiesis and May Control Timing of Gene Expression.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 3, p. 967, doi. 10.3390/ijms21030967
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- Publication type:
- Article
In Human and Mouse Spino-Cerebellar Tissue, Ataxin-2 Expansion Affects Ceramide-Sphingomyelin Metabolism.
- Published in:
- International Journal of Molecular Sciences, 2019, v. 20, n. 23, p. 5854, doi. 10.3390/ijms20235854
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- Publication type:
- Article
Global Proteome of LonP1+/− Mouse Embryonal Fibroblasts Reveals Impact on Respiratory Chain, but No Interdependence between Eral1 and Mitoribosomes.
- Published in:
- International Journal of Molecular Sciences, 2019, v. 20, n. 18, p. 4523, doi. 10.3390/ijms20184523
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- Publication type:
- Article
SerThr-PhosphoProteome of Brain from Aged PINK1-KO+A53T-SNCA Mice Reveals pT1928-MAP1B and pS3781-ANK2 Deficits, as Hub between Autophagy and Synapse Changes.
- Published in:
- International Journal of Molecular Sciences, 2019, v. 20, n. 13, p. 3284, doi. 10.3390/ijms20133284
- By:
- Publication type:
- Article
Impaired Photic Entrainment of Spontaneous Locomotor Activity in Mice Overexpressing Human Mutant α-Synuclein.
- Published in:
- International Journal of Molecular Sciences, 2018, v. 19, n. 6, p. 1651, doi. 10.3390/ijms19061651
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- Publication type:
- Article
Early onset autosomal dominant spastic paraplegia caused by novel mutations inSPG3A.
- Published in:
- Neurogenetics, 2004, v. 5, n. 4, p. 239, doi. 10.1007/s10048-004-0191-2
- 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
LRRK2 Expression Is Deregulated in Fibroblasts and Neurons from Parkinson Patients with Mutations in PINK1.
- Published in:
- Molecular Neurobiology, 2018, v. 55, n. 1, p. 506, doi. 10.1007/s12035-016-0303-7
- By:
- Publication type:
- Article
Complexin-1 and Foxp1 Expression Changes Are Novel Brain Effects of Alpha-Synuclein Pathology.
- Published in:
- Molecular Neurobiology, 2015, v. 52, n. 1, p. 57, doi. 10.1007/s12035-014-8844-0
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- Publication type:
- Article
Primary Skin Fibroblasts as a Model of Parkinson's Disease.
- Published in:
- Molecular Neurobiology, 2012, v. 46, n. 1, p. 20, doi. 10.1007/s12035-012-8245-1
- By:
- Publication type:
- Article
Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS.
- Published in:
- Nature, 2010, v. 466, n. 7310, p. 1069, doi. 10.1038/nature09320
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- Publication type:
- Article
Brain atrophy measures in preclinical and manifest spinocerebellar ataxia type 2.
- Published in:
- Annals of Clinical & Translational Neurology, 2018, v. 5, n. 2, p. 128, doi. 10.1002/acn3.504
- By:
- Publication type:
- Article
Knockout Mouse Studies Show That Mitochondrial CLPP Peptidase and CLPX Unfoldase Act in Matrix Condensates near IMM, as Fast Stress Response in Protein Assemblies for Transcript Processing, Translation, and Heme Production.
- Published in:
- Genes, 2024, v. 15, n. 6, p. 694, doi. 10.3390/genes15060694
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- Publication type:
- Article
Saturating density of STSs (1/6 kb) in a 1.1 Mb region on 3q28-q29: a valuable resource for cloning of disease genes.
- Published in:
- European Journal of Human Genetics, 2001, v. 9, n. 4, p. 307, doi. 10.1038/sj.ejhg.5200630
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- Publication type:
- Article
His1069Gln and six novel Wilson disease mutations: analysis of relevance for early diagnosis and phenotype.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 6, p. 616, doi. 10.1038/sj.ejhg.5200237
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- Publication type:
- Article
Solving a 50 year mystery of a missing OPA1 mutation: more insights from the first family diagnosed with autosomal dominant optic atrophy.
- Published in:
- Molecular Neurodegeneration, 2010, v. 5, p. 25, doi. 10.1186/1750-1326-5-25
- By:
- Publication type:
- Article
Sleep Disorders in Spinocerebellar Ataxia Type 2 Patients.
- Published in:
- Neurodegenerative Diseases, 2011, v. 8, n. 6, p. 447, doi. 10.1159/000324374
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- Publication type:
- Article