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
Clinicopathologic Conference, Anti-IgLON5 IgG-Associated Neurologic Disorder
NEJM 386:173-180, Case 1-2022, 2022
Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020
Essential Tremor
NEJM 378:1802-1810, Haubenberger, D.,et al, 2018
A Man with Tingling Fingers
BMJ 346:f1443, Larkman, M.,et al, 2013
Risk Factors for Spinal Cord Lesions in Dystonic Cerebral Palsy and Generalised Dystonia
JNNP 83:159-163, Guettard,E.,et al, 2012
Clinicopathologic Conference, Sjogrens syndrome with dorsal-root ganglionitis
NEJM 364:1856-1865, Case 14-2011, 2011