Berge Minassian
Berge Minassian
Professor, Pediatrics, University of Toronto, Sr. Scientist, Genetics and Genome Biology, Sick Kids
Verified email at sickkids.ca
TitleCited byYear
Guidelines for the use and interpretation of assays for monitoring autophagy
DJ Klionsky, FC Abdalla, H Abeliovich, RT Abraham, A Acevedo-Arozena, ...
Autophagy 8 (4), 445-544, 2012
5629*2012
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
4541998
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
4411998
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, 2004
3312004
Mutations in NHLRC1 cause progressive myoclonus epilepsy
EM Chan, EJ Young, L Ianzano, I Munteanu, X Zhao, CC Christopoulos, ...
Nature genetics 35 (2), 125, 2003
2682003
Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes
MF Waters, NA Minassian, G Stevanin, KP Figueroa, JPA Bannister, ...
Nature genetics 38 (4), 447, 2006
2522006
Human chromosome 7: DNA sequence and biology
SW Scherer, J Cheung, JR MacDonald, LR Osborne, K Nakabayashi, ...
Science 300 (5620), 767-772, 2003
2312003
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
1912001
Expanded repeat in canine epilepsy
H Lohi, EJ Young, SN Fitzmaurice, C Rusbridge, EM Chan, M Vervoort, ...
Science 307 (5706), 81-81, 2005
1812005
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
1762007
Lafora’s disease: towards a clinical, pathologic, and molecular synthesis
BA Minassian
Pediatric neurology 25 (1), 21-31, 2001
1742001
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
1741998
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
1682007
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
1472008
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
1412005
Mutation spectrum and predicted function of laforin in Lafora’s progressive myoclonus epilepsy
BA Minassian, L Ianzano, M Meloche, E Andermann, GA Rouleau, ...
Neurology 55 (3), 341-346, 2000
1342000
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
1282015
Sacred disease secrets revealed: the genetics of human epilepsy
J Turnbull, H Lohi, JA Kearney, GA Rouleau, AV Delgado-Escueta, ...
Human molecular genetics 14 (17), 2491-2500, 2005
1252005
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
1102009
Progressive myoclonus epilepsy with polyglucosans (Lafora disease): evidence for a third locus
EM Chan, S Omer, M Ahmed, LR Bridges, C Bennett, SW Scherer, ...
Neurology 63 (3), 565-567, 2004
1072004
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