An overview of polymyositis and dermatomyositis AR Findlay, NA Goyal, T Mozaffar Muscle & nerve 51 (5), 638-656, 2015 | 294 | 2015 |
Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice N Wein, A Vulin, MS Falzarano, CAK Szigyarto, B Maiti, A Findlay, ... Nature medicine 20 (9), 992-1000, 2014 | 130 | 2014 |
Clinical phenotypes as predictors of the outcome of skipping around DMD exon 45 AR Findlay, N Wein, Y Kaminoh, LE Taylor, DM Dunn, JR Mendell, ... Annals of neurology 77 (4), 668-674, 2015 | 50 | 2015 |
Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophy J Couthouis, AR Raphael, C Siskind, AR Findlay, JD Buenrostro, ... Neuromuscular Disorders 24 (5), 431-435, 2014 | 47 | 2014 |
The ZZ domain of dystrophin in DMD: making sense of missense mutations A Vulin, N Wein, DM Strandjord, EK Johnson, AR Findlay, B Maiti, ... Human mutation 35 (2), 257-264, 2014 | 39 | 2014 |
The first exon duplication mouse model of Duchenne muscular dystrophy: A tool for therapeutic development A Vulin, N Wein, TR Simmons, AM Rutherford, AR Findlay, JA Yurkoski, ... Neuromuscular Disorders 25 (11), 827-834, 2015 | 35 | 2015 |
Inhibition of DNAJ-HSP70 interaction improves strength in muscular dystrophy R Bengoechea, AR Findlay, AK Bhadra, H Shao, KC Stein, SK Pittman, ... The Journal of clinical investigation 130 (8), 4470-4485, 2020 | 34 | 2020 |
Efficient skipping of single exon duplications in DMD patient-derived cell lines using an antisense oligonucleotide approach N Wein, A Vulin, AR Findlay, F Gumienny, N Huang, SD Wilton, ... Journal of neuromuscular diseases 4 (3), 199-207, 2017 | 31 | 2017 |
Clinical utility of anti‐cytosolic 5’‐nucleotidase 1A antibody in idiopathic inflammatory myopathies C Ikenaga, AR Findlay, NA Goyal, S Robinson, J Cauchi, Y Hussain, ... Annals of clinical and translational neurology 8 (3), 571-578, 2021 | 30 | 2021 |
Lithium chloride corrects weakness and myopathology in a preclinical model of LGMD1D AR Findlay, R Bengoechea, SK Pittman, TF Chou, HL True, CC Weihl Neurology Genetics 5 (2), 2019 | 29 | 2019 |
Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure CC Weihl, A Töpf, R Bengoechea, J Duff, R Charlton, SK Garcia, ... Acta neuropathologica 145 (1), 127-143, 2023 | 22 | 2023 |
Phenotypic diversity in an international Cure VCP Disease registry C Ikenaga, AR Findlay, M Seiffert, A Peck, N Peck, NE Johnson, ... Orphanet Journal of Rare Diseases 15 (1), 1-9, 2020 | 21 | 2020 |
Homozygous recessive MYH2 mutation mimicking dominant MYH2 associated myopathy AR Findlay, MB Harms, A Pestronk, CC Weihl Neuromuscular Disorders 28 (8), 675-679, 2018 | 16 | 2018 |
Camptocormia as a late presentation in a manifesting carrier of duchenne muscular dystrophy AR Findlay, S Lewis, Z Sahenk, KM Flanigan Muscle & nerve 47 (1), 124-127, 2013 | 13 | 2013 |
LGMDD1 natural history and phenotypic spectrum: Implications for clinical trials AR Findlay, SE Robinson, S Poelker, M Seiffert, R Bengoechea, CC Weihl Annals of Clinical and Translational Neurology 10 (2), 181-194, 2023 | 5 | 2023 |
Genetic-Based Treatment Strategies for Muscular Dystrophy and Congenital Myopathies AR Findlay, CC Weihl CONTINUUM: Lifelong Learning in Neurology 28 (6), 1800-1816, 2022 | 5 | 2022 |
234th ENMC International Workshop: Chaperone dysfunction in muscle disease Naarden, The Netherlands, 8–10 December 2017 CC Weihl, B Udd, M Hanna, A Ben-Zvi, T Blaettler, R Bryson-Richardson, ... Neuromuscular Disorders 28 (12), 1022-1030, 2018 | 5 | 2018 |
Resistance to 6-Methylpurine is Conferred by Defective Adenine Phosphoribosyltransferase in Tetrahymena T Akematsu, A Findlay, Y Fukuda, R E. Pearlman, J Loidl, E Orias, ... Genes 9 (4), 179, 2018 | 5 | 2018 |
DNAJB6 isoform specific knockdown: Therapeutic potential for limb girdle muscular dystrophy D1 AR Findlay, MM Paing, JA Daw, M Haller, R Bengoechea, SK Pittman, ... Molecular Therapy-Nucleic Acids 32, 937-948, 2023 | 3 | 2023 |
Correction: Corrigendum: Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice N Wein, A Vulin, MS Falzarano, CAK Szigyarto, B Maiti, A Findlay, ... Nature medicine 21 (5), 537-537, 2015 | 3 | 2015 |