Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1 DJ Klionsky, AK Abdel-Aziz, S Abdelfatah, M Abdellatif, A Abdoli, S Abel, ... autophagy 17 (1), 1-382, 2021 | 13561* | 2021 |
Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy BA Minassian, JR Lee, JA Herbrick, J Huizenga, S Soder, AJ Mungall, ... Nature genetics 20, 171-174, 1998 | 579 | 1998 |
Mice lacking the β3 subunit of the GABAA receptor have the epilepsy phenotype and many of the behavioral characteristics of Angelman syndrome TM DeLorey, A Handforth, SG Anagnostaras, GE Homanics, ... Journal of Neuroscience 18 (20), 8505-8514, 1998 | 559 | 1998 |
High rate of recurrent de novo mutations in developmental and epileptic encephalopathies FF Hamdan, CT Myers, P Cossette, P Lemay, D Spiegelman, AD Laporte, ... The American Journal of Human Genetics 101 (5), 664-685, 2017 | 434 | 2017 |
A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome GN Mnatzakanian, H Lohi, I Munteanu, SE Alfred, T Yamada, ... Nature genetics 36 (4), 339-341, 2004 | 422 | 2004 |
Mutations in NHLRC1 cause progressive myoclonus epilepsy EM Chan, EJ Young, L Ianzano, I Munteanu, X Zhao, CC Christopoulos, ... Nature genetics 35 (2), 125-127, 2003 | 374 | 2003 |
Human chromosome 7: DNA sequence and biology SW Scherer, J Cheung, JR MacDonald, LR Osborne, K Nakabayashi, ... Science 300 (5620), 767-772, 2003 | 275 | 2003 |
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood S Mercimek‐Mahmutoglu, J Patel, D Cordeiro, S Hewson, D Callen, ... Epilepsia 56 (5), 707-716, 2015 | 269 | 2015 |
The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter E Siintola, M Topcu, N Aula, H Lohi, BA Minassian, AD Paterson, XQ Liu, ... The American Journal of Human Genetics 81 (1), 136-146, 2007 | 259 | 2007 |
Laforin is a glycogen phosphatase, deficiency of which leads to elevated phosphorylation of glycogen in vivo VS Tagliabracci, J Turnbull, W Wang, JM Girard, X Zhao, AV Skurat, ... Proceedings of the National Academy of Sciences 104 (49), 19262-19266, 2007 | 240 | 2007 |
Lafora’s disease: towards a clinical, pathologic, and molecular synthesis BA Minassian Pediatric neurology 25 (1), 21-31, 2001 | 235 | 2001 |
Expanded repeat in canine epilepsy H Lohi, EJ Young, SN Fitzmaurice, C Rusbridge, EM Chan, M Vervoort, ... Science 307 (5706), 81-81, 2005 | 229 | 2005 |
Magnetoencephalographic localization in pediatric epilepsy surgery: comparison with invasive intracranial electroencephalography BA Minassian, H Otsubo, S Weiss, I Elliott, JT Rutka, OC Snead Annals of neurology 46 (4), 627-633, 2001 | 222 | 2001 |
Angelman syndrome: correlations between epilepsy phenotypes and genotypes BA Minassian, TM Delorey, RW Olsen, M Philippart, Y Bronstein, Q Zhang, ... Annals of neurology 43 (4), 485-493, 1998 | 218 | 1998 |
Brain dopamine–serotonin vesicular transport disease and its treatment JJ Rilstone, RA Alkhater, BA Minassian New England Journal of Medicine 368 (6), 543-550, 2013 | 214 | 2013 |
Abnormal metabolism of glycogen phosphate as a cause for Lafora disease VS Tagliabracci, JM Girard, D Segvich, C Meyer, J Turnbull, X Zhao, ... Journal of Biological Chemistry 283 (49), 33816-33825, 2008 | 187 | 2008 |
Novel glycogen synthase kinase 3 and ubiquitination pathways in progressive myoclonus epilepsy H Lohi, L Ianzano, XC Zhao, EM Chan, J Turnbull, SW Scherer, ... Human molecular genetics 14 (18), 2727-2736, 2005 | 178 | 2005 |
Neuronal ceroid lipofuscinoses DA Nita, SE Mole, BA Minassian Epileptic Disorders 18 (s2), S73-S88, 2016 | 171 | 2016 |
Mutation I810N in the α3 isoform of Na+, K+-ATPase causes impairments in the sodium pump and hyperexcitability in the CNS SJ Clapcote, S Duffy, G Xie, G Kirshenbaum, AR Bechard, VR Schack, ... Proceedings of the National Academy of Sciences 106 (33), 14085-14090, 2009 | 170 | 2009 |
Lafora disease J Turnbull, E Tiberia, P Striano, P Genton, S Carpenter, CA Ackerley, ... Epileptic Disorders 18 (s2), S38-S62, 2016 | 163 | 2016 |