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European Journal of Human Genetics : EJHG|January 13, 2011
SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiencyLars Schlotawa, Eva Charlotte Ennemann, Karthikeyan Radhakrishnan, et al.Neuroimage. Clinical|February 17, 2015
MRI-based diagnostic biomarkers for early onset pediatric multiple sclerosisMartin Weygandt, Hannah-Maria Hummel, Katharina Schregel, et al.Glia|March 27, 2020
The failure of microglia to digest developmental apoptotic cells contributes to the pathology of RNASET2-deficient leukoencephalopathyNoémie Hamilton, Holly A Rutherford, Jessica J Petts, et al.Journal of Neurology|April 22, 2008
Cerebral involvement in axonal Charcot-Marie-Tooth neuropathy caused by mitofusin2 mutationsKnut Brockmann, Steffi Dreha-Kulaczewski, Peter Dechent, et al.Therapeutic Advances in Neurological Disorders|May 6, 2022
Improving pediatric multiple sclerosis interventional phase III study design: a meta-analysisJennifer S Graves, Marius Thomas, Jun Li, et al.Scientific Reports|February 17, 2022
Deep breathing couples CSF and venous flow dynamicsJost M Kollmeier, Lukas Gürbüz-Reiss, Prativa Sahoo, et al.The Lancet. Neurology|August 2, 2012
Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification studyHendrik Rosewich, Holger Thiele, Andreas Ohlenbusch, et al.Nature Communications|July 10, 2025
Super-resolution microscopy of mitochondrial mRNAsStefan Stoldt, Frederike Maass, Michael Weber, et al.Journal of Cell Science|January 21, 2017
Dysferlin mediates membrane tubulation and links T-tubule biogenesis to muscular dystrophyJulia Hofhuis, Kristina Bersch, Ronja Büssenschütt, et al.Neurology|February 14, 2014
The expanding clinical and genetic spectrum of ATP1A3-related disordersHendrik Rosewich, Andreas Ohlenbusch, Peter Huppke, et al.Pageof 17