| Lafora disease—from pathogenesis to treatment strategies F Nitschke, SJ Ahonen, S Nitschke, S Mitra, BA Minassian Nature Reviews Neurology 14 (10), 606-617, 2018 | 141 | 2018 |
| Hyperphosphorylation of glucosyl C6 carbons and altered structure of glycogen in the neurodegenerative epilepsy Lafora disease F Nitschke, P Wang, P Schmieder, JM Girard, DE Awrey, T Wang, ... Cell metabolism 17 (5), 756-767, 2013 | 98 | 2013 |
| Abnormal glycogen chain length pattern, not hyperphosphorylation, is critical in Lafora disease F Nitschke, MA Sullivan, P Wang, X Zhao, EE Chown, AM Perri, ... EMBO molecular medicine 9 (7), 906-917, 2017 | 77 | 2017 |
| Pathogenesis of Lafora disease: transition of soluble glycogen to insoluble polyglucosan MA Sullivan, S Nitschke, M Steup, BA Minassian, F Nitschke International journal of molecular sciences 18 (8), 1743, 2017 | 70 | 2017 |
| Transition from glycogen to starch metabolism in Archaeplastida U Cenci, F Nitschke, M Steup, BA Minassian, C Colleoni, SG Ball Trends in plant science 19 (1), 18-28, 2014 | 68 | 2014 |
| Efficient delivery of structurally diverse protein cargo into mammalian cells by a bacterial toxin A Auger, M Park, F Nitschke, LM Minassian, GL Beilhartz, BA Minassian, ... Molecular pharmaceutics 12 (8), 2962-2971, 2015 | 63 | 2015 |
| Skeletal muscle glycogen chain length correlates with insolubility in mouse models of polyglucosan-associated neurodegenerative diseases MA Sullivan, S Nitschke, EP Skwara, P Wang, X Zhao, XS Pan, EE Chown, ... Cell reports 27 (5), 1334-1344. e6, 2019 | 52 | 2019 |
| Gys1 antisense therapy rescues neuropathological bases of murine Lafora disease S Ahonen, S Nitschke, TR Grossman, H Kordasiewicz, P Wang, X Zhao, ... Brain 144 (10), 2985-2993, 2021 | 37 | 2021 |
| Targeting Gys1 with AAV‐SaCas9 decreases pathogenic polyglucosan bodies and neuroinflammation in Adult Polyglucosan Body and Lafora disease mouse models E Gumusgoz, DR Guisso, S Kasiri, J Wu, M Dear, B Verhalen, S Nitschke, ... Neurotherapeutics 18 (2), 1414-1425, 2021 | 36 | 2021 |
| Update on pharmacological treatment of progressive myoclonus epilepsies E Ferlazzo, DKN Trenite, GJ Haan, F Felix Nitschke, S Ahonen, ... Current pharmaceutical design 23 (37), 5662-5666, 2017 | 30 | 2017 |
| Modification of starch metabolism in transgenic Arabidopsis thaliana increases plant biomass and triples oilseed production F Liu, Q Zhao, N Mano, Z Ahmed, F Nitschke, Y Cai, KD Chapman, ... Plant biotechnology journal 14 (3), 976-985, 2016 | 28 | 2016 |
| An inducible glycogen synthase-1 knockout halts but does not reverse Lafora disease progression in mice S Nitschke, EE Chown, X Zhao, S Gabrielian, S Petković, DR Guisso, ... Journal of Biological Chemistry 296, 2021 | 27 | 2021 |
| Dimeric Quaternary Structure of Human Laforin*♦ RS Sankhala, AC Koksal, L Ho, F Nitschke, BA Minassian, G Cingolani Journal of Biological Chemistry 290 (8), 4552-4559, 2015 | 18 | 2015 |
| Glycogen synthase downregulation rescues the amylopectinosis of murine RBCK1 deficiency S Nitschke, MA Sullivan, S Mitra, CR Marchioni, JPY Lee, BH Smith, ... Brain 145 (7), 2361-2377, 2022 | 17 | 2022 |
| Ppp1r3d deficiency preferentially inhibits neuronal and cardiac Lafora body formation in a mouse model of the fatal epilepsy Lafora disease L Israelian, S Nitschke, P Wang, X Zhao, AM Perri, JPY Lee, B Verhalen, ... Journal of neurochemistry 157 (6), 1897-1910, 2021 | 13 | 2021 |
| CRISPR–Cas9-mediated editing of starch branching enzymes results in altered starch structure in Brassica napus L Wang, Y Wang, A Makhmoudova, F Nitschke, IJ Tetlow, MJ Emes Plant Physiology 188 (4), 1866-1886, 2022 | 11 | 2022 |
| Determination of glucan phosphorylation using heteronuclear 1H,13C double and 1H,13C,31P triple‐resonance NMR spectra P Schmieder, F Nitschke, M Steup, K Mallow, E Specker Magnetic Resonance in Chemistry 51 (10), 655-661, 2013 | 8 | 2013 |
| Sensitive quantification of α-glucans in mouse tissues, cell cultures, and human cerebrospinal fluid S Nitschke, S Petković, S Ahonen, BA Minassian, F Nitschke Journal of Biological Chemistry 295 (43), 14698-14709, 2020 | 4 | 2020 |
| Deficiency of the E3 ubiquitin ligase RBCK1 causes diffuse brain polyglucosan accumulation and neurodegeneration MA Sullivan, F Nitschke, EE Chown, LF DiGiovanni, M Chown, AM Perri, ... bioRxiv, 277392, 2018 | 3 | 2018 |
| Enzymology of Complex Alpha-Glucans F Nitschke CRC Press, 2021 | 2 | 2021 |
Berge MinassianProfessor, Pediatrics, University of Toronto, Sr. Scientist, Genetics and Genome Biology, Sick Kids在 sickkids.ca 的电子邮件经过验证
