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Berge Minassian
Berge Minassian
Professor, Pediatrics, University of Toronto, Sr. Scientist, Genetics and Genome Biology, Sick Kids
Verified email at sickkids.ca
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Year
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
13251*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
5761998
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
5451998
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
4112004
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
4082017
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
3632003
Human chromosome 7: DNA sequence and biology
SW Scherer, J Cheung, JR MacDonald, LR Osborne, K Nakabayashi, ...
Science 300 (5620), 767-772, 2003
2692003
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
2572015
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
2502007
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
2382007
Lafora’s disease: towards a clinical, pathologic, and molecular synthesis
BA Minassian
Pediatric neurology 25 (1), 21-31, 2001
2342001
Expanded repeat in canine epilepsy
H Lohi, EJ Young, SN Fitzmaurice, C Rusbridge, EM Chan, M Vervoort, ...
Science 307 (5706), 81-81, 2005
2262005
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
2202001
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
2171998
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
2042013
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
1832008
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
1772005
Neuronal ceroid lipofuscinoses
DA Nita, SE Mole, BA Minassian
Epileptic Disorders 18 (s2), S73-S88, 2016
1702016
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
1612009
Lafora disease
J Turnbull, E Tiberia, P Striano, P Genton, S Carpenter, CA Ackerley, ...
Epileptic Disorders 18 (s2), S38-S62, 2016
1542016
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