Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020
Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
Medicine 75:233-250, Murakami,T.,et al, 1996
A 60-year-old man with arm weakness and numbness
Neurol 90:190-196, Foster, L.A.,et al, 2018
Essential Tremor
NEJM 378:1802-1810, Haubenberger, D.,et al, 2018
FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
Mol Genet Metab 125:281-291, Almannai, M.,et al, 2018
Parkinsons Disease
Lancet 373:2055-2066, Lees,A.J.,et al, 2009