Found: 14
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Modeling Rare Human Disorders in Mice: The Finnish Disease Heritage.
- Published in:
- Cells (2073-4409), 2021, v. 10, n. 11, p. 3158, doi. 10.3390/cells10113158
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- Article
The N-terminal domain of the myelin enzyme 2′,3′-cyclic nucleotide 3′-phosphodiesterase: direct molecular interaction with the calcium sensor calmodulin.
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- Journal of Neurochemistry, 2012, v. 123, n. 4, p. 515, doi. 10.1111/jnc.12000
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- Article
Analysis of human brain tissue derived from DBS surgery.
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- Translational Neurodegeneration, 2022, v. 11, n. 1, p. 1, doi. 10.1186/s40035-022-00297-y
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- Article
Hyperkinetic Movement Disorder Caused by the Recurrent c.892C>T NACC1 Variant.
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- Movement Disorders Clinical Practice, 2024, v. 11, n. 6, p. 708, doi. 10.1002/mdc3.14051
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- Article
Infantile onset encephalomyopathy, retinopathy, optic atrophy, and mitochondrial DNA depletion associated with a novel pathogenic DHX16 variant.
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- Clinical Genetics, 2023, v. 104, n. 6, p. 686, doi. 10.1111/cge.14416
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- Article
Homozygous TAF1C variants are associated with a novel childhood‐onset neurological phenotype.
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- Clinical Genetics, 2020, v. 98, n. 5, p. 493, doi. 10.1111/cge.13827
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- Article
Myeloid-related protein 8/14 in plasma and serum in patients with new-onset juvenile idiopathic arthritis in real-world setting in a single center.
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- Pediatric Rheumatology, 2022, v. 20, n. 1, p. 1, doi. 10.1186/s12969-022-00701-x
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- Article
Variant in NHLRC2 leads to increased hnRNP C2 in developing neurons and the hippocampus of a mouse model of FINCA disease.
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- Molecular Medicine, 2020, v. 26, n. 1, p. 1, doi. 10.1186/s10020-020-00245-4
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- Article
A novel pathogenic SLC12A5 missense variant in epilepsy of infancy with migrating focal seizures causes impaired KCC2 chloride extrusion.
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- Frontiers in Molecular Neuroscience, 2024, p. 1, doi. 10.3389/fnmol.2024.1372662
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- Article
An approach to comprehensive genome and proteome expression analyses in Schwann cells and neurons during peripheral nerve myelin formation.
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- Journal of Neurochemistry, 2016, v. 138, n. 6, p. 830, doi. 10.1111/jnc.13722
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- Article
Isolation, purification and expansion of myelination-competent, neonatal mouse Schwann cells.
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- European Journal of Neuroscience, 2007, v. 26, n. 4, p. 953, doi. 10.1111/j.1460-9568.2007.05726.x
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- Publication type:
- Article
Epidemiological, clinical, and genetic characteristics of paediatric genetic white matter disorders in Northern Finland.
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- Developmental Medicine & Child Neurology, 2021, v. 63, n. 9, p. 1066, doi. 10.1111/dmcn.14884
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- Publication type:
- Article
Structural analysis of the complex between calmodulin and full-length myelin basic protein, an intrinsically disordered molecule.
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- Amino Acids, 2010, v. 39, n. 1, p. 59, doi. 10.1007/s00726-009-0364-2
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- Article
Erratum to: Structural analysis of the complex between calmodulin and full-length myelin basic protein, an intrinsically disordered molecule.
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- 2010
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- Correction notice