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
A 48-year-old Man with Walking Difficulty
Neurol 85:e165-e169, Kalladka, D.,et al, 2015
Chronic and Slowly Progressive Weakness of the Legs and Hands
BMJ 348:g459, Nightingale, H.,et al, 2014
Diagnosis and New Treatments in Muscular Dystrophies
JNNP 80:706-714, Manzur,A.Y. &Muntoni,F., 2009
Polymyalgia Rheumatica and Giant-Cell Arteritis
Lancet 372:234-245, Salvarani,C.,et al., 2008
Benign Acute Childhood Myositis, Laboratory and Clinical Features
Neurol 53:2127-2131, Mackay,M.T.,et al, 1999
Reflex Sympathetic Dystrophy
BMJ 310:1645-1648, Paice,E., 1995
Reflex Sympathetic Dystrophy in Children
BMJ 310:1648-1649, Lloyd-Thomas,A.R.&Lauder,G., 1995
Wilson Disease
Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992