共 257 条
[1]
Verhaart IEC(2017)Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy—a literature review Orphanet J Rare Dis 12 124-523
[2]
Robertson A(1995)Natural history in proximal spinal muscular atrophy, Clinical analysis of 445 patients and suggestions for a modification of existing classifications Arch Neurol 52 518-e1644
[3]
Wilson IJ(2020)Population-based analysis of survival in spinal muscular atrophy Neurology 94 e1634-72
[4]
Aartsma-Rus A(2018)Prospective and longitudinal natural history study of patients with Type 2 and 3 spinal muscular atrophy: baseline data NatHis-SMA study PLoS ONE 13 e0201004-356
[5]
Cameron S(1997)A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients J Neurol Sci 146 67-315
[6]
Jones CC(2019)Quality of life of patients with spinal muscular atrophy: a systematic review Eur J Paediatr Neurol EJPN 23 347-1732
[7]
Zerres K(2020)New treatments in spinal muscular atrophy: an overview of currently available data Expert Opin Pharmacother 21 307-1722
[8]
Rudnik-Schoneborn S(2017)Nusinersen versus sham control in infantile-onset spinal muscular atrophy N Engl J Med 377 1723-S209
[9]
Wijngaarde CA(2017)Single-dose gene-replacement therapy for spinal muscular atrophy N Engl J Med 377 1713-1161
[10]
Stam M(2017)AVXS-101 phase 1 gene therapy clinical trial in SMA Type 1: patients treated early with the proposed therapeutic dose were able to sit unassisted at a younger age Neuromuscular Disorders NMD 27 S208-856