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Movement Disorders : Official Journal of the Movement Disorder Society|October 13, 2010
Myoclonus in Creutzfeldt-Jakob disease: polygraphic and video-electroencephalography assessment of 109 patientsSimona Binelli, Pamela Agazzi, Laura Canafoglia, et al.
Brain : a Journal of Neurology|February 1, 2013
Hyaluronan accumulation and arrested oligodendrocyte progenitor maturation in vanishing white matter diseaseMarianna Bugiani, Nienke Postma, Emiel Polder, et al.
Brain : a Journal of Neurology|February 2, 2023
Cortical interneuron development is affected in 4H leukodystrophyStephanie Dooves, Liza M L Kok, Dwayne B Holmes, et al.
Human Molecular Genetics|April 4, 2007
Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathyErika Fernandez-Vizarra, Marianna Bugiani, Paola Goffrini, et al.
Annals of Clinical and Translational Neurology|August 15, 2015
Interferon-α and the calcifying microangiopathy in Aicardi-Goutières syndromeMelanie D Klok, Hannah S Bakels, Nienke L Postma, et al.
Frontiers in Pediatrics|January 8, 2015
Severe Neonatal Epileptic Encephalopathy and KCNQ2 Mutation: Neuropathological Substrate?Charlotte Dalen Meurs-van der Schoor, Mirjam van Weissenbruch, Marjan van Kempen, et al.
BMC Gastroenterology|October 21, 2018
Transplantation, gene therapy and intestinal pathology in MNGIE patients and miceRana Yadak, Max V Boot, Niek P van Til, et al.
Molecular Therapy. Methods & Clinical Development|March 23, 2022
In vivo targeting of a variant causing vanishing white matter using CRISPR/Cas9Anne E J Hillen, Martina Hruzova, Tanja Rothgangl, et al.
Oncotarget|November 8, 2017
Trimethylation of H3K27 during human cerebellar development in relation to medulloblastomaShahryar E Mir, Michiel Smits, Dennis Biesmans, et al.
The Journal of Maternal-Fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians|January 23, 2018
Increased prevalence of abnormal vertebral patterning in fetuses and neonates with trisomy 21Pauline C Schut, Clara M A Ten Broek, Titia E Cohen-Overbeek, et al.
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