Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype C Ruhno, VL McGovern, MR Avenarius, PJ Snyder, TW Prior, FC Nery, ... Human genetics 138, 241-256, 2019 | 68 | 2019 |
Serum creatinine is a biomarker of progressive denervation in spinal muscular atrophy CRR Alves, R Zhang, AJ Johnstone, R Garner, PH Nwe, JJ Siranosian, ... Neurology 94 (9), e921-e931, 2020 | 60 | 2020 |
Impaired kidney structure and function in spinal muscular atrophy FC Nery, JJ Siranosian, I Rosales, MO Deguise, A Sharma, AW Muhtaseb, ... Neurology: Genetics 5 (5), e353, 2019 | 42 | 2019 |
Transcriptomic Analysis of Octanoic Acid Response in Drosophila sechellia Using RNA-Sequencing SM Lanno, SM Gregory, SJ Shimshak, MK Alverson, K Chiu, AL Feil, ... G3: Genes, Genomes, Genetics 7 (12), 3867-3873, 2017 | 24 | 2017 |
Whole‐blood dysregulation of actin‐cytoskeleton pathway in adult spinal muscular atrophy patients JJ Siranosian, FC Nery, CRR Alves, BA Siranosian, NJ Lyons, ... Annals of Clinical and Translational Neurology 7 (7), 1158-1165, 2020 | 9 | 2020 |
Outcome measures for nusinersen efficacy in adults with spinal muscular atrophy (S5. 008) CJJ Yeo, S Simeone, RZ Zhang, K Trautman, B Damron, P Nwe, ... Neurology 92 (15 Supplement), 2019 | 4 | 2019 |
Contribution of cardiac defects to spinal muscular atrophy pathology: a human tissue study C Alves, R Garner, F Nery, J Siranosian, A Johnstone, K Swoboda NEUROMUSCULAR DISORDERS 29, S118-S118, 2019 | 1 | 2019 |
EXTRA-MUSCULAR MANIFESTATIONS IN NMD: O. 12Contribution of cardiac defects to spinal muscular atrophy pathology: a human tissue study C Alves, R Garner, F Nery, J Siranosian, A Johnstone, K Swoboda Neuromuscular Disorders 29, S118, 2019 | | 2019 |