| TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations G Kosmanopoulos, JK Donohue, M Hoke, S Thomas, MA Peyton, L Vo, ... Brain, awae201, 2024 | | 2024 |
| Intrathecal Gene Therapy for Giant Axonal Neuropathy DX Bharucha-Goebel, JJ Todd, D Saade, G Norato, M Jain, T Lehky, ... New England Journal of Medicine 390 (12), 1092-1104, 2024 | 4 | 2024 |
| Safety and Efficacy of Apitegromab in Patients With Spinal Muscular Atrophy Types 2 and 3: The Phase 2 TOPAZ Study TO Crawford, BT Darras, JW Day, S Dunaway Young, T Duong, ... Neurology 102 (5), e209151, 2024 | 1 | 2024 |
| P77 A 12-tier functional scale for spinal muscular atrophy MM Burk, T Crawford, K Krosschell, S Apkon Neuromuscular Disorders 33, S136, 2023 | | 2023 |
| P234 Effect of Apitegromab on pedi-cat and promis-fatigue questionnaire at 36-months in patients with spinal muscular atrophy T Crawford, B Darras, J Day, J Krueger, E Mercuri, A Nascimento, ... Neuromuscular Disorders 33, S93-S94, 2023 | | 2023 |
| P224 Effect of apitegromab on motor function at 36 months in patients with nonambulatory spinal muscular atrophy aged 2-12 years old T Crawford, B Darras, J Day, D De Vivo, E Mercuri, A Nascimento, ... Neuromuscular Disorders 33, S91, 2023 | | 2023 |
| Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5‐year update of the NURTURE study TO Crawford, KJ Swoboda, DC De Vivo, E Bertini, WL Hwu, RS Finkel, ... Muscle & Nerve 68 (2), 157-170, 2023 | 26 | 2023 |
| Spinraza in Adults with Spinal Muscular Atrophy (SAS)–14 month results (S33. 010) C Zaidman, C Proud, J Thonhoff, N Rad, D Ho, ML Chu, S Ladha, ... Neurology 100 (17_supplement_2), 3622, 2023 | | 2023 |
| Identifying biomarkers of spinal muscular atrophy for further development J Glascock, BT Darras, TO Crawford, CJ Sumner, SJ Kolb, C DiDonato, ... Journal of neuromuscular diseases, 1-18, 2023 | 7 | 2023 |
| Intrathecal onasemnogene abeparvovec for sitting, nonambulatory patients with spinal muscular atrophy: phase i ascending-dose study (STRONG) RS Finkel, BT Darras, JR Mendell, JW Day, NL Kuntz, AM Connolly, ... Journal of neuromuscular diseases 10 (3), 389-404, 2023 | 15 | 2023 |
| P. 102 Apitegromab in SMA: An analysis of multiple efficacy endpoints in the TOPAZ extension study T Crawford, B Darras, J Day, D Barrett, G Song, J O'Neil, N Kertesz, S Bilic, ... Neuromuscular Disorders 32, S86-S87, 2022 | | 2022 |
| VP. 51 Impact of nusinersen on caregiver experience and health-related quality of life (HRQoL) when initiated in the presymptomatic stage of SMA in NURTURE J Kirschner, T Crawford, M Ryan, R Finkel, K Swoboda, D De Vivo, ... Neuromuscular Disorders 32, S91, 2022 | 2 | 2022 |
| TRPV4 MUTATIONS CAUSING MIXED NEUROPATHY AND SKELETAL PHENOTYPES RESULT IN SEVERE GAIN OF ION CHANNEL FUNCTION B McCray, A Taga, M Peyton, B Goretzky, T Crawford, U Hellmich, ... JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM 27, S92-S92, 2022 | | 2022 |
| Early treatment is a lifeline for infants with SMA CJ Sumner, TO Crawford Nature medicine 28 (7), 1348-1349, 2022 | 8 | 2022 |
| Swallowing Function in Children with Later-Onset Spinal Muscular Atrophy Treated with Nusinersen: CHERISH-SHINE Results F Muntoni, T Crawford, D Castro, M Scoto, C Zhu, C Makepeace, Z Berger, ... EUROPEAN JOURNAL OF NEUROLOGY 29, 227-227, 2022 | | 2022 |
| Hip pain in patients with spinal muscular atrophy: prevalence, intensity, interference, and factors associated with moderate to severe pain AL Xu, TO Crawford, PD Sponseller Journal of Pediatric Orthopaedics 42 (5), 273-279, 2022 | 7 | 2022 |
| Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy MA Waldrop, SA Moore, KD Mathews, BW Darbro, L Medne, R Finkel, ... Human mutation 43 (4), 511-528, 2022 | 22 | 2022 |
| TRPV4 mutations causing mixed neuropathy and skeletal phenotypes result in severe gain of function A Taga, MA Peyton, B Goretzki, TQ Gallagher, A Ritter, A Harper, ... Annals of Clinical and Translational Neurology 9 (3), 375-391, 2022 | 14 | 2022 |
| Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy J Alonso-Pérez, L González-Quereda, C Bruno, C Panicucci, A Alavi, ... Brain 145 (2), 596-606, 2022 | 15 | 2022 |
| Growth in ataxia telangiectasia VAI Natale, TJ Cole, C Rothblum-Oviatt, J Wright, TO Crawford, ... Orphanet journal of rare diseases 16, 1-14, 2021 | 14 | 2021 |
