Found: 97
Select item for more details and to access through your institution.
Abnormal neuroendocrine response to clomipramine in hereditary affective psychosis.
- Published in:
- Depression & Anxiety (1091-4269), 2009, v. 26, n. 8, p. E111, doi. 10.1002/da.20405
- By:
- Publication type:
- Article
New Genetic Concepts and Stroke Prevention.
- Published in:
- Cerebrovascular Diseases, 1998, v. 8, p. 28, doi. 10.1159/000047515
- By:
- Publication type:
- Article
No parkinsonism in SCA2 and SCA3 despite severe neurodegeneration of the dopaminergic substantia nigra.
- Published in:
- 2015
- By:
- Publication type:
- journal 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
- By:
- Publication type:
- Article
Mid-Gestation lethality of Atxn2l-Ablated Mice.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 14, p. 5124, doi. 10.3390/ijms21145124
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Structural Brain Correlates of Sleep Microstructure in Spinocerebellar Ataxia Type 2 and its Role on Clinical Phenotype.
- Published in:
- Cerebellum, 2024, v. 23, n. 5, p. 1839, doi. 10.1007/s12311-024-01674-1
- By:
- Publication type:
- Article
COVID-19 Impacts the Mental Health and Speech Function in Spinocerebellar Ataxia Type 2: Evidences from a Follow-Up Study.
- Published in:
- Cerebellum, 2024, v. 23, n. 3, p. 1101, doi. 10.1007/s12311-023-01612-7
- By:
- Publication type:
- Article
Standards of Fluid Biomarker Collection and Pre-analytical Processes in Humans and Mice: Recommendations by the Ataxia Global Initiative Working Group on Biomarkers.
- Published in:
- Cerebellum, 2024, v. 23, n. 3, p. 881, doi. 10.1007/s12311-023-01561-1
- By:
- Publication type:
- Article
Corticomuscular Coherence: a Novel Tool to Assess the Pyramidal Tract Dysfunction in Spinocerebellar Ataxia Type 2.
- Published in:
- Cerebellum, 2017, v. 16, n. 2, p. 602, doi. 10.1007/s12311-016-0827-4
- By:
- Publication type:
- Article
Atxn2 Knockout and CAG42-Knock-in Cerebellum Shows Similarly Dysregulated Expression in Calcium Homeostasis Pathway.
- Published in:
- Cerebellum, 2017, v. 16, n. 1, p. 68, doi. 10.1007/s12311-016-0762-4
- By:
- Publication type:
- Article
Spinocerebellar Ataxia Type 2 (SCA2): Identification of Early Brain Degeneration in One Monozygous Twin in the Initial Disease Stage.
- Published in:
- Cerebellum, 2011, v. 10, n. 2, p. 245, doi. 10.1007/s12311-010-0239-9
- By:
- Publication type:
- Article
Spinocerebellar ataxia 2 (SCA2).
- Published in:
- Cerebellum, 2008, v. 7, n. 2, p. 115, doi. 10.1007/s12311-008-0019-y
- By:
- Publication type:
- Article
Clinical and genetic differences between bipolar disorder type 1 and 2 in multiplex families.
- Published in:
- Translational Psychiatry, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41398-020-01146-0
- By:
- Publication type:
- Article
Whole-exome sequencing of 81 individuals from 27 multiply affected bipolar disorder families.
- Published in:
- Translational Psychiatry, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41398-020-0732-y
- By:
- Publication type:
- Article
Genome-wide association study of intracranial aneurysm identifies three new risk loci.
- Published in:
- Nature Genetics, 2010, v. 42, n. 5, p. 420, doi. 10.1038/ng.563
- By:
- Publication type:
- Article
OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28.
- Published in:
- Nature Genetics, 2000, v. 26, n. 2, p. 211, doi. 10.1038/79944
- By:
- Publication type:
- Article
Ataxin-2 Modulates the Levels of Grb2 and Src but Not Ras Signaling.
- Published in:
- Journal of Molecular Neuroscience, 2013, v. 51, n. 1, p. 68, doi. 10.1007/s12031-012-9949-4
- By:
- Publication type:
- Article
Both Ubiquitin Ligases FBXW8 and PARK2 Are Sequestrated into Insolubility by ATXN2 PolyQ Expansions, but Only FBXW8 Expression Is Dysregulated.
- Published in:
- PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0121089
- By:
- Publication type:
- Article
Loss of PINK1 Impairs Stress-Induced Autophagy and Cell Survival.
- Published in:
- PLoS ONE, 2014, v. 9, n. 4, p. 1, doi. 10.1371/journal.pone.0095288
- By:
- Publication type:
- Article
ATXN2 and Its Neighbouring Gene SH2B3 Are Associated with Increased ALS Risk in the Turkish Population.
- Published in:
- PLoS ONE, 2012, v. 7, n. 8, p. 1, doi. 10.1371/journal.pone.0042956
- By:
- Publication type:
- Article
Striatal Dopamine Transmission Is Subtly Modified in Human A53Tα-Synuclein Overexpressing Mice.
- Published in:
- PLoS ONE, 2012, v. 7, n. 5, p. 1, doi. 10.1371/journal.pone.0036397
- By:
- Publication type:
- Article
A53T-Alpha-Synuclein Overexpression Impairs Dopamine Signaling and Striatal Synaptic Plasticity in Old Mice.
- Published in:
- PLoS ONE, 2010, v. 5, n. 7, p. 1, doi. 10.1371/journal.pone.0011464
- 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
- By:
- Publication type:
- Article
Loss of mitochondrial protease ClpP protects mice from diet-induced obesity and insulin resistance.
- Published in:
- EMBO Reports, 2018, v. 19, n. 3, p. 1, doi. 10.15252/embr.201745009
- By:
- 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
- By:
- Publication type:
- Article
CLPP-Null Eukaryotes with Excess Heme Biosynthesis Show Reduced L-arginine Levels, Probably via CLPX-Mediated OAT Activation.
- Published in:
- Biomolecules (2218-273X), 2024, v. 14, n. 2, p. 241, doi. 10.3390/biom14020241
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- 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
- By:
- Publication type:
- Article
Prodromal sensory neuropathy in Pink1<sup>−/−</sup>SNCA<sup>A53T</sup> double mutant Parkinson mice.
- Published in:
- Neuropathology & Applied Neurobiology, 2021, v. 47, n. 7, p. 1060, doi. 10.1111/nan.12734
- By:
- Publication type:
- Article
Regulation of mRNA Translation by MID1: A Common Mechanism of Expanded CAG Repeat RNAs.
- Published in:
- Frontiers in Cellular Neuroscience, 2016, v. 10, p. 1, doi. 10.3389/fncel.2016.00226
- By:
- Publication type:
- Article
Structured and disordered regions of Ataxin-2 contribute differently to the specificity and efficiency of mRNP granule formation.
- Published in:
- PLoS Genetics, 2024, v. 20, n. 5, p. 1, doi. 10.1371/journal.pgen.1011251
- By:
- Publication type:
- Article
Spinocerebellar ataxia 2 (SCA2): morphometric analyses in 11 autopsies.
- Published in:
- Acta Neuropathologica, 1999, v. 97, n. 3, p. 306, doi. 10.1007/s004010050989
- By:
- 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
On the distribution of intranuclear and cytoplasmic aggregates in the brainstem of patients with spinocerebellar ataxia type 2 and 3.
- Published in:
- Brain Pathology, 2017, v. 27, n. 3, p. 345, doi. 10.1111/bpa.12412
- By:
- Publication type:
- Article
The Brainstem Pathologies of Parkinson's Disease and Dementia with Lewy Bodies.
- Published in:
- Brain Pathology, 2015, v. 25, n. 2, p. 121, doi. 10.1111/bpa.12168
- By:
- Publication type:
- Article
Huntington's Disease ( HD): Degeneration of Select Nuclei, Widespread Occurrence of Neuronal Nuclear and Axonal Inclusions in the Brainstem.
- Published in:
- Brain Pathology, 2014, v. 24, n. 3, p. 247, doi. 10.1111/bpa.12115
- By:
- Publication type:
- Article
Spinocerebellar Ataxia Type 3 (SCA3): Thalamic Neurodegeneration Occurs Independently from Thalamic Ataxin-3 Immunopositive Neuronal Intranuclear Inclusions.
- Published in:
- Brain Pathology, 2006, v. 16, n. 3, p. 218, doi. 10.1111/j.1750-3639.2006.00022.x
- By:
- Publication type:
- Article
An Isoform of Ataxin-3 Accumulates in the Nucleus of Neuronal Cells in Affected Brain Regions of SCA3 Patients.
- Published in:
- Brain Pathology, 1998, v. 8, n. 4, p. 669, doi. 10.1111/j.1750-3639.1998.tb00193.x
- By:
- Publication type:
- Article
Mutations in CIZ1 cause adult onset primary cervical dystonia.
- Published in:
- Annals of Neurology, 2012, v. 71, n. 4, p. 458, doi. 10.1002/ana.23547
- By:
- Publication type:
- Article
Clinical and positron emission tomography of Parkinson's disease caused by LRRK2.
- Published in:
- Annals of Neurology, 2005, v. 57, n. 3, p. 453
- By:
- Publication type:
- Article
Saccade velocity is controlled by polyglutamine size in spinocerebellar ataxia 2.
- Published in:
- Annals of Neurology, 2004, v. 56, n. 3, p. 444
- By:
- Publication type:
- Article
Progression of pathology in PINK1-deficient mouse brain from splicing via ubiquitination, ER stress, and mitophagy changes to neuroinflammation.
- Published in:
- 2017
- By:
- Publication type:
- journal article