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Epilepsia|March 15, 2006
Clinical and genetic findings in 26 Italian patients with Lafora diseaseSilvana Franceschetti, Antonio Gambardella, Laura Canafoglia, et al.
Neurobiology of Disease|June 25, 2018
A novel de novo HCN1 loss-of-function mutation in genetic generalized epilepsy causing increased neuronal excitabilityMattia Bonzanni, Jacopo C DiFrancesco, Raffaella Milanesi, et al.
Frontiers in Molecular Neuroscience|August 22, 2018
A Loss-of-Function HCN4 Mutation Associated With Familial Benign Myoclonic Epilepsy in Infancy Causes Increased Neuronal ExcitabilityGiulia Campostrini, Jacopo C DiFrancesco, Barbara Castellotti, et al.
British Journal of Haematology|May 22, 2008
Biological and clinical risk factors of chronic lymphocytic leukaemia transformation to Richter syndromeDavide Rossi, Michaela Cerri, Daniela Capello, et al.
American Journal of Human Genetics|May 22, 2012
Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosageKatherine R Smith, John Damiano, Silvana Franceschetti, et al.
Annals of Neurology|October 23, 2009
SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failureL M Dibbens, R Michelucci, A Gambardella, et al.
Clinical Neurophysiology Practice|November 19, 2024
A Reappraisal on cortical myoclonus and brief Remarks on myoclonus of different OriginsLaura Canafoglia, Stefano Meletti, Francesca Bisulli, et al.
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