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Berge Minassian
Berge Minassian
Professor, Pediatrics, University of Toronto, Sr. Scientist, Genetics and Genome Biology, Sick Kids
Email verificata su sickkids.ca
Titolo
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Citata da
Anno
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
86202021
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
5251998
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
5101998
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
3862004
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
3212003
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
2622017
Human chromosome 7: DNA sequence and biology
SW Scherer, J Cheung, JR MacDonald, LR Osborne, K Nakabayashi, ...
Science, 2003
2522003
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
2162007
Lafora’s disease: towards a clinical, pathologic, and molecular synthesis
BA Minassian
Pediatric neurology 25 (1), 21-31, 2001
2152001
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
2112007
Expanded repeat in canine epilepsy
H Lohi, EJ Young, SN Fitzmaurice, C Rusbridge, EM Chan, M Vervoort, ...
Science 307 (5706), 81-81, 2005
2112005
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
2112001
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
2052015
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
1981998
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
1742008
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
1632005
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
1542013
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
1442009
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
1432000
PTG depletion removes Lafora bodies and rescues the fatal epilepsy of Lafora disease
J Turnbull, AA DePaoli-Roach, X Zhao, MA Cortez, N Pencea, E Tiberia, ...
PLoS genetics 7 (4), e1002037, 2011
1342011
Il sistema al momento non pu eseguire l'operazione. Riprova pi tardi.
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