A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations JK Gentile, WH Tan, LT Horowitz, CA Bacino, SA Skinner, ... Journal of Developmental & Behavioral Pediatrics 31 (7), 592-601, 2010 | 156 | 2010 |
Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlations T Sahoo, SU Peters, NS Madduri, DG Glaze, JR German, LM Bird, ... Journal of Medical Genetics 43 (6), 512-516, 2006 | 140 | 2006 |
Angelman syndrome: Mutations influence features in early childhood WH Tan, CA Bacino, SA Skinner, I Anselm, R Barbieri‐Welge, ... American journal of medical genetics Part A 155 (1), 81-90, 2011 | 137 | 2011 |
Tissue-specific variation of Ube3a protein expression in rodents and in a mouse model of Angelman syndrome RM Gustin, TJ Bichell, M Bubser, J Daily, I Filonova, D Mrelashvili, ... Neurobiology of disease 39 (3), 283-291, 2010 | 112 | 2010 |
Sleep in children and adolescents with Angelman syndrome: association with parent sleep and stress SE Goldman, TJ Bichell, K Surdyka, BA Malow Journal of Intellectual Disability Research 56 (6), 600-608, 2012 | 108 | 2012 |
Ube3a imprinting impairs circadian robustness in Angelman syndrome models S Shi, TJ Bichell, RA Ihrie, CH Johnson Current Biology 25 (5), 537-545, 2015 | 84 | 2015 |
Double‐blind therapeutic trial in Angelman syndrome using betaine and folic acid SU Peters, LM Bird, V Kimonis, DG Glaze, LM Shinawi, TJ Bichell, ... American journal of medical genetics Part A 152 (8), 1994-2001, 2010 | 52 | 2010 |
Allosteric activation of M4 muscarinic receptors improve behavioral and physiological alterations in early symptomatic YAC128 mice T Pancani, DJ Foster, MS Moehle, TJ Bichell, E Bradley, TM Bridges, ... Proceedings of the National Academy of Sciences 112 (45), 14078-14083, 2015 | 46 | 2015 |
Measuring what matters to individuals with Angelman syndrome and their families: development of a patient-centered disease concept model T Willgoss, D Cassater, S Connor, ML Krishnan, MT Miller, ... Child Psychiatry & Human Development 52, 654-668, 2021 | 40 | 2021 |
Reduced bioavailable manganese causes striatal urea cycle pathology in Huntington's disease mouse model TJV Bichell, M Wegrzynowicz, KG Tipps, EM Bradley, MA Uhouse, ... Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1863 (6 …, 2017 | 39 | 2017 |
BDNF and Huntingtin protein modifications by manganese: Implications for striatal medium spiny neuron pathology in manganese neurotoxicity KH Stansfield, TJ Bichell, AB Bowman, TR Guilarte Journal of neurochemistry 131 (5), 655-666, 2014 | 24 | 2014 |
Beyond epilepsy and autism: disruption of GABRB3 causes ocular hypopigmentation RJ Delahanty, Y Zhang, TJ Bichell, W Shen, K Verdier, RL Macdonald, ... Cell reports 17 (12), 3115-3124, 2016 | 21 | 2016 |
Huntington’s disease genotype suppresses global manganese-responsive processes in pre-manifest and manifest YAC128 mice AC Pfalzer, JM Wilcox, SG Codreanu, M Totten, TJV Bichell, T Halbesma, ... Metallomics 12 (7), 1118-1130, 2020 | 20 | 2020 |
Novel BAC mouse model of Huntington's disease with 225 CAG repeats exhibits an early widespread and stable degenerative phenotype M Wegrzynowicz, TJ Bichell, BD Soares, MK Loth, JL McGlothan, ... Journal of Huntington's disease 4 (1), 17-36, 2015 | 16 | 2015 |
Embryonic mutant huntingtin aggregate formation in mouse models of Huntington’s disease AP Osmand, TJ Bichell, AB Bowman, GP Bates Journal of Huntington's Disease 5 (4), 343-346, 2016 | 12 | 2016 |
Are children with Angelman syndrome at high risk for anesthetic complications? IS Landsman, HM Mitzel, SU Peters, TJ Bichell Pediatric Anesthesia 22 (3), 263-267, 2012 | 10 | 2012 |
A disease concept model for STXBP1‐related disorders KR Sullivan, SM Ruggiero, J Xian, KM Thalwitzer, R Ali, S Stewart, ... Epilepsia Open 8 (2), 320-333, 2023 | 8 | 2023 |
A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome J Han, TJ Bichell, S Golden, I Anselm, S Waisbren, CA Bacino, SU Peters, ... Orphanet journal of rare diseases 14, 1-8, 2019 | 7 | 2019 |
A draft conceptual model of SLC6A1 neurodevelopmental disorder K Goodspeed, LR Mosca, NC Weitzel, K Horning, EW Simon, AC Pfalzer, ... Frontiers in neuroscience 16, 1026065, 2023 | 5 | 2023 |
Treatment with THI, an inhibitor of sphingosine-1-phosphate lyase, modulates glycosphingolipid metabolism and results therapeutically effective in experimental models of … G Pepe, L Capocci, F Marracino, N Realini, P Lenzi, K Martinello, ... Molecular Therapy 31 (1), 282-299, 2023 | 5 | 2023 |