共 215 条
[1]
Brzustowicz LM(1990)Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3 Nature 344 540-4
[2]
Lehner T(1990)Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14. The french spinal muscular atrophy investigators Lancet 336 271-3
[3]
Castilla LH(1995)Identification and characterization of a spinal muscular atrophy-determining gene Cell 80 155-65
[4]
Penchaszadeh GK(1997)Correlation between severity and SMN protein level in spinal muscular atrophy Nat Genet 16 265-9
[5]
Wilhelmsen KC(2000)Molecular basis of spinal muscular atrophy: the SMN gene Neurologia 15 393-400
[6]
Daniels R(1999)A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy Proc Natl Acad Sci U S A 96 6307-11
[7]
Melki J(2018)Correlation between SMA type and SMN2 copy number revisited: an analysis of 625 unrelated spanish patients and a compilation of 2834 reported cases Neuromuscul Disord 28 208-15
[8]
Sheth P(2012)Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of > 72,400 specimens Eur J Hum Genet 20 27-32
[9]
Abdelhak S(2017)Emerging therapies and challenges in spinal muscular atrophy Ann Neurol 81 355-68
[10]
Burlet P(2018)Muscle strength and motor function throughout life in a cross-sectional cohort of 180 patients with spinal muscular atrophy types 1c-4 Eur J Neurol 25 512-8