Segui
Berge Minassian
Berge Minassian
Professor, Pediatrics, University of Toronto, Sr. Scientist, Genetics and Genome Biology, Sick Kids
Email verificata su sickkids.ca
Titolo
Citata da
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
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
5791998
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
5591998
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
4342017
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
4222004
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
3742003
Human chromosome 7: DNA sequence and biology
SW Scherer, J Cheung, JR MacDonald, LR Osborne, K Nakabayashi, ...
Science 300 (5620), 767-772, 2003
2752003
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
2692015
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
2592007
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
2402007
Lafora’s disease: towards a clinical, pathologic, and molecular synthesis
BA Minassian
Pediatric neurology 25 (1), 21-31, 2001
2352001
Expanded repeat in canine epilepsy
H Lohi, EJ Young, SN Fitzmaurice, C Rusbridge, EM Chan, M Vervoort, ...
Science 307 (5706), 81-81, 2005
2292005
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
2222001
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
2181998
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
2142013
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
1872008
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
1782005
Neuronal ceroid lipofuscinoses
DA Nita, SE Mole, BA Minassian
Epileptic Disorders 18 (s2), S73-S88, 2016
1712016
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
1702009
Lafora disease
J Turnbull, E Tiberia, P Striano, P Genton, S Carpenter, CA Ackerley, ...
Epileptic Disorders 18 (s2), S38-S62, 2016
1632016
Il sistema al momento non può eseguire l'operazione. Riprova più tardi.
Articoli 1–20