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RFC1 and FGF14 Repeat Expansions in Serbian Patients with Cerebellar Ataxia.
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- Movement Disorders Clinical Practice, 2024, v. 11, n. 6, p. 626, doi. 10.1002/mdc3.14020
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- Article
PRKRAP1 and Other Pseudogenes in Movement Disorders: The Troublemakers in Genetic Analyses Are More Than Genomic Fossils.
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- Movement Disorders Clinical Practice, 2022, v. 9, n. 5, p. 698, doi. 10.1002/mdc3.13499
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- Article
Compound Heterozygous DARS2 Mutations as a Mimic of Hereditary Spastic Paraplegia.
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- Movement Disorders Clinical Practice, 2021, v. 8, n. 6, p. 972, doi. 10.1002/mdc3.13258
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- Article
Importance of Tissue Selection for Genetic Testing: Detection of a Terminal 18q Deletion after Stem Cell Transplantation.
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- Movement Disorders Clinical Practice, 2020, v. 7, n. 4, p. 453, doi. 10.1002/mdc3.12931
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- Publication type:
- Article
Comparison of ocean vertical mixing schemes in the Max Plank Institute Earth System Model (MPI-ESM1.2).
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- Geoscientific Model Development Discussions, 2020, p. 1, doi. 10.5194/gmd-2020-202
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- Publication type:
- Article
Max Planck Institute Earth System Model (MPI-ESM1.2) for High-Resolution Model Intercomparison Project (HighResMIP).
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- Geoscientific Model Development Discussions, 2019, p. 1, doi. 10.5194/gmd-2018-286
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- Publication type:
- Article
A statistical and process oriented evaluation of cloud radiative effects in high resolution global models.
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- Geoscientific Model Development Discussions, 2019, p. 1, doi. 10.5194/gmd-2018-221
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- Publication type:
- Article
Mitochondrial damage-associated inflammation highlights biomarkers in PRKN/PINK1 parkinsonism.
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- 2020
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- Publication type:
- journal article
Exome sequencing identifies a de novo SCN2 A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities.
- Published in:
- Epilepsia (Series 4), 2014, v. 55, n. 4, p. e25, doi. 10.1111/epi.12554
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- Publication type:
- Article
Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in VPS13D -Related Disorder.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 3, p. 1874, doi. 10.3390/ijms24031874
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- Article
Mutant WDR45 Leads to Altered Ferritinophagy and Ferroptosis in β-Propeller Protein-Associated Neurodegeneration.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 17, p. 9524, doi. 10.3390/ijms23179524
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- Article
Blastic plasmacytoid dendritic cell neoplasm and cerebral toxoplasmosis: a case report.
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- 2022
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- Publication type:
- journal article
Coupled climate response to Atlantic Multidecadal Variability in a multi-model multi-resolution ensemble.
- Published in:
- Climate Dynamics, 2022, v. 59, n. 3/4, p. 805, doi. 10.1007/s00382-022-06157-9
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- Publication type:
- Article
Pallidal Deep Brain Stimulation in DYT6 Dystonia: Clinical Outcome and Predictive Factors for Motor Improvement.
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- Journal of Clinical Medicine, 2019, v. 8, n. 12, p. 2163, doi. 10.3390/jcm8122163
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- Publication type:
- Article
POLG2-Linked Mitochondrial Disease: Functional Insights from New Mutation Carriers and Review of the Literature.
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- Cerebellum, 2024, v. 23, n. 2, p. 479, doi. 10.1007/s12311-023-01557-x
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- Publication type:
- Article
Spinocerebellar Ataxia Type 28—Phenotypic and Molecular Characterization of a Family with Heterozygous and Compound-Heterozygous Mutations in AFG3L2.
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- Cerebellum, 2019, v. 18, n. 4, p. 817, doi. 10.1007/s12311-019-01036-2
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- Publication type:
- Article
Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice.
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- Nature Genetics, 2013, v. 45, n. 9, p. 1077, doi. 10.1038/ng.2723
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- Publication type:
- Article
Internally generated decadal cold events in the northern North Atlantic and their possible implications for the demise of the Norse settlements in Greenland.
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- Geophysical Research Letters, 2015, v. 42, n. 3, p. 908, doi. 10.1002/2014GL062741
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- Publication type:
- Article
A possible mechanism for the strong weakening of the North Atlantic subpolar gyre in the mid-1990s.
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- Geophysical Research Letters, 2009, v. 36, n. 15, p. n/a, doi. 10.1029/2009GL039166
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- Publication type:
- Article
In-depth Characterization of the Homodimerization Domain of the Transcription Factor THAP1 and Dystonia-Causing Mutations Therein.
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- Journal of Molecular Neuroscience, 2017, v. 62, n. 1, p. 11, doi. 10.1007/s12031-017-0904-2
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- Publication type:
- Article
Head impulse testing in bilateral vestibulopathy in patients with genetically defined CANVAS.
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- Brain & Behavior, 2022, v. 12, n. 6, p. 1, doi. 10.1002/brb3.2546
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- Publication type:
- Article
Faithful SGCE imprinting in iPSC-derived cortical neurons: an endogenous cellular model of myoclonus-dystonia.
- Published in:
- Scientific Reports, 2017, p. 41156, doi. 10.1038/srep41156
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- Publication type:
- Article
LIPAD (LRRK2/Luebeck International Parkinson's Disease) Study Protocol: Deep Phenotyping of an International Genetic Cohort.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.710572
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- Publication type:
- Article
Impact of Higher Spatial Atmospheric Resolution on Precipitation Extremes Over Land in Global Climate Models.
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- Journal of Geophysical Research. Atmospheres, 2020, v. 125, n. 13, p. 1, doi. 10.1029/2019JD032184
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- Publication type:
- Article
Emotionale Ansteckung & Self-Service-Technologies.
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- Marketing Review St. Gallen, 2018, n. 1, p. 20
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- Publication type:
- Article
Sensitivity of the Atlantic Meridional Overturning Circulation to Model Resolution in CMIP6 HighResMIP Simulations and Implications for Future Changes.
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- Journal of Advances in Modeling Earth Systems, 2020, v. 12, n. 8, p. 1, doi. 10.1029/2019MS002014
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- Publication type:
- Article
Mutations in PINK1 and Parkin Impair Ubiquitination of Mitofusins in Human Fibroblasts.
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- PLoS ONE, 2011, v. 6, n. 3, p. 1, doi. 10.1371/journal.pone.0016746
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- Publication type:
- Article
Mutant Parkin Impairs Mitochondrial Function and Morphology in Human Fibroblasts.
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- PLoS ONE, 2010, v. 5, n. 9, p. 1, doi. 10.1371/journal.pone.0012962
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- Publication type:
- Article
A Novel ECEL1 Variant Associated with a Congenital Contracture Disorder.
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- Pakistan Journal of Zoology, 2023, v. 55, n. 1, p. 391, doi. 10.17582/journal.pjz/20191118061114
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- Publication type:
- Article
Update on the Genetics of Dystonia.
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- Current Neurology & Neuroscience Reports, 2017, v. 17, n. 3, p. 1, doi. 10.1007/s11910-017-0735-0
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- Article
Clinical Phenotype of LRRK2 R1441C in 2 Chinese Sisters.
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- Neurodegenerative Diseases, 2020, v. 20, n. 1, p. 39, doi. 10.1159/000508131
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- Publication type:
- Article
Rapid-onset dystonia-parkinsonism: case report.
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- 2010
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- Publication type:
- Letter
MDR1 variants and risk of Parkinson disease.
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- Journal of Neurology, 2009, v. 256, n. 1, p. 115, doi. 10.1007/s00415-009-0089-x
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- Publication type:
- Article
Tropical Pacific Decadal Variability and the Subtropical–Tropical Cells.
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- Journal of Climate, 2005, v. 18, n. 23, p. 5163, doi. 10.1175/JCLI3559.1
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- Publication type:
- Article
Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders.
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- Journal of Neurodevelopmental Disorders, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s11689-019-9270-4
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- Publication type:
- Article
New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3).
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- European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1334, doi. 10.1038/ejhg.2014.292
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- Publication type:
- Article
Identification and functional analysis of novel THAP1 mutations.
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- European Journal of Human Genetics, 2012, v. 20, n. 2, p. 171, doi. 10.1038/ejhg.2011.159
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- Article
Role of ethnicity on the association of MAPT H1 haplotypes and subhaplotypes in Parkinson's disease.
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- European Journal of Human Genetics, 2007, v. 15, n. 11, p. 1163, doi. 10.1038/sj.ejhg.5201901
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- Publication type:
- Article
Emerging role of a systems biology approach to elucidate factors of reduced penetrance: transcriptional changes in THAP1-linked dystonia as an example.
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- Medizinische Genetik, 2022, v. 34, n. 2, p. 131, doi. 10.1515/medgen-2022-2126
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- Publication type:
- Article
Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia.
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- JAMA Neurology, 2017, v. 74, n. 7, p. 806, doi. 10.1001/jamaneurol.2017.0666
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- Publication type:
- Article
GNAL Mutations and Dystonia.
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- JAMA Neurology, 2014, v. 71, n. 8, p. 1052, doi. 10.1001/jamaneurol.2014.1506
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- Publication type:
- Article
Mutations in GNAL.
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- JAMA Neurology, 2014, v. 71, n. 4, p. 490, doi. 10.1001/jamaneurol.2013.4677
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- Publication type:
- Article
A Novel OPA3 Mutation Revealed by Exome Sequencing.
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- JAMA Neurology, 2013, v. 70, n. 6, p. 783, doi. 10.1001/jamaneurol.2013.1174
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- Publication type:
- Article
Multi‐omic landscaping of human midbrains identifies disease‐relevant molecular targets and pathways in advanced‐stage Parkinson's disease.
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- Clinical & Translational Medicine, 2022, v. 12, n. 1, p. 1, doi. 10.1002/ctm2.692
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- Publication type:
- Article
Evidence of TAF1 dysfunction in peripheral models of X-linked dystonia-parkinsonism.
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- Cellular & Molecular Life Sciences, 2016, v. 73, n. 16, p. 3205, doi. 10.1007/s00018-016-2159-4
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- Publication type:
- Article
Integrity and Collaboration in Dynamic Sensor Networks.
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- Sensors (14248220), 2018, v. 18, n. 7, p. 2400, doi. 10.3390/s18072400
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- Publication type:
- Article
Characterization of the pathogenic α-Synuclein Variant V15A in Parkinson´s disease.
- Published in:
- NPJ Parkinson's Disease, 2023, v. 9, n. 1, p. 1, doi. 10.1038/s41531-023-00584-z
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- Publication type:
- Article
Therapies for Genetic Forms of Parkinson's Disease: Systematic Literature Review.
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- Journal of Neuromuscular Diseases, 2021, v. 8, n. 3, p. 341, doi. 10.3233/JND-200598
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- Publication type:
- Article
Zonisamide‐responsive myoclonus in SEMA6B‐associated progressive myoclonic epilepsy.
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- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 7, p. 1524, doi. 10.1002/acn3.51403
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- Publication type:
- Article
Discordance in monozygotic Parkinson's disease twins – continuum or dichotomy?
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- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 6, p. 1102, doi. 10.1002/acn3.775
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- Publication type:
- Article