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Neurology|May 13, 2014
Partial deletion of AFG3L2 causing spinocerebellar ataxia type 28Katrien Smets, Tine Deconinck, Jonathan Baets, et al.
Brain : a Journal of Neurology|March 27, 2016
Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesionsPaola S Denora, Katrien Smets, Federica Zolfanelli, et al.
Neurology. Genetics|September 9, 2016
Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48)Jennifer Hirst, Marianna Madeo, Katrien Smets, et al.
American Journal of Human Genetics|January 22, 2013
Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegiaElodie Martin, Rebecca Schüle, Katrien Smets, et al.
Annals of Neurology|January 26, 2012
KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathySarah Weckhuysen, Simone Mandelstam, Arvid Suls, et al.
Journal of Medical Genetics|April 15, 2016
A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotypeGea Beunders, Jiddeke van de Kamp, Pradeep Vasudevan, et al.
Brain : a Journal of Neurology|April 19, 2016
SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre studyMatthis Synofzik, Katrien Smets, Martial Mallaret, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|October 9, 2013
PRRT2 mutations: exploring the phenotypical boundariesTania Djémié, Sarah Weckhuysen, Philip Holmgren, et al.
Brain : a Journal of Neurology|May 29, 2019
FAHN/SPG35: a narrow phenotypic spectrum across disease classificationsTim W Rattay, Tobias Lindig, Jonathan Baets, et al.
Brain : a Journal of Neurology|November 11, 2017
Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trialLudger Schöls, Tim W Rattay, Peter Martus, et al.
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