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Molecular Genetics and Metabolism|September 26, 2006
Mutated ND2 impairs mitochondrial complex I assembly and leads to Leigh syndromeCristina Ugalde, Reetta Hinttala, Sharita Timal, et al.
Molecular Medicine (Cambridge, Mass.)|December 10, 2020
Variant in NHLRC2 leads to increased hnRNP C2 in developing neurons and the hippocampus of a mouse model of FINCA diseaseAnniina E Hiltunen, Salla M Kangas, Steffen Ohlmeier, et al.
Frontiers in Molecular Neuroscience|April 25, 2024
A novel pathogenic <i>SLC12A5</i> missense variant in epilepsy of infancy with migrating focal seizures causes impaired KCC2 chloride extrusionViivi Järvelä, Mira Hamze, Jonna Komulainen-Ebrahim, et al.
Movement Disorders Clinical Practice|May 3, 2024
Hyperkinetic Movement Disorder Caused by the Recurrent c.892C>T NACC1 VariantJonna Komulainen-Ebrahim, Salla M Kangas, Estrella López-Martín, et al.
Seizure|April 21, 2019
Novel variants and phenotypes widen the phenotypic spectrum of GABRG2-related disordersJonna Komulainen-Ebrahim, John M Schreiber, Salla M Kangas, et al.
JIMD Reports|May 6, 2015
Mitochondrial DNA Depletion and Deletions in Paediatric Patients with Neuromuscular Diseases: Novel PhenotypesTuomas Komulainen, Milla-Riikka Hautakangas, Reetta Hinttala, et al.
Clinical Genetics|August 13, 2023
Infantile onset encephalomyopathy, retinopathy, optic atrophy, and mitochondrial DNA depletion associated with a novel pathogenic DHX16 variantMilla-Riikka Hautakangas, Paula Widgren, Paavo Korpelainen, et al.
The Journal of Clinical Investigation|May 31, 2024
Loss-of-function mutations of the TIE1 receptor tyrosine kinase cause late-onset primary lymphedemaPascal Brouillard, Aino Murtomäki, Veli-Matti Leppänen, et al.
Frontiers in Neuroscience|May 14, 2023
Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA diseaseAntti Tallgren, Leo Kager, Gina O'Grady, et al.
Disease Models & Mechanisms|October 26, 2022
The Finnish genetic heritage in 2022 - from diagnosis to translational researchJohanna Uusimaa, Johannes Kettunen, Teppo Varilo, et al.
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