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Whole blood survival motor neuron protein levels correlate with severity of denervation in spinal muscular atrophy
Alves CRR, Zhang R, Johnstone AJ, et al.
Muscle & Nerve, 2020
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes
Cortese A, Zhu Y, Rebelo AP, et al.
Nature genetics, 2020, 52, 5, p 473
Serum creatinine is a biomarker of progressive denervation in spinal muscular atrophy
Alves CRR, Zhang R, Johnstone AJ, et al.
Neurology, 2020, 94, 9
Serum creatinine is a biomarker of progressive denervation in spinal muscular atrophy
Alves CRR, Zhang R, Johnstone AJ, et al.
Neurology, 2019
Impaired kidney structure and function in spinal muscular atrophy
Nery FC, Siranosian JJ, Rosales I, et al.
Neurology. Genetics, 2019, 5, 5, e353
A novel WARS mutation (p.Asp314Gly) identified in a Chinese distal hereditary motor neuropathy family
Wang B, Li X, Huang S, et al.
Clinical genetics, 2019
A novel AIFM1 mutation in a Chinese family with X-linked Charcot-Marie-Tooth disease type 4
Li X, Wang J, Liu L, et al.
Neuromuscular disorders : NMD, 2018, 28, 8, p 652
IGHMBP2-related clinical and genetic features in a cohort of Chinese Charcot-Marie-Tooth disease type 2 patients
Liu L, Li X, Hu Z, et al.
Neuromuscular disorders : NMD, 2017, 27, 2, p 193
New multiplex real-time PCR approach to detect gene mutations for spinal muscular atrophy
Liu Z, Zhang P, He X, et al.
BMC neurology, 2016, 16, 1, p 141
A SIGMAR1 splice-site mutation causes distal hereditary motor neuropathy.
Li X, Hu Z, Liu L, et al.
Neurology, 2015, 84, 24, p. 2430-7
Mutation analysis of the small heat shock protein 27 gene in chinese patients with Charcot-Marie-Tooth disease
Tang B, Liu X, Zhao G, et al.
Archives of neurology, 2005, 62, 8, p. 1201-1207
