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
Juvenile Myasthenia Gravis: Recommendations for Diagnostic Approaches and Treatment
Neuropediatrics 45:75-83, Marina, A.D.,et al, 2014
Cerebral Artery Aneurysms in Children Infected with Human Immunodeficiency Virus
J Pediatr 121:927-930, Husson,R.N.,et al, 1992
Clinicopathologic Conference, Aqueductal Stenosis with Hydrocephalus
NEJM 375:2583-2593, Case 40-2016, 2016
Clinicopath Conf, Infantile Krabbe Disease
NEJM 362:346-356, Case 3-2010, 2010
Aicardi-Gouti�res Syndrome: Neuroradiologic Findings and Follow-up
AJNR 30:1971-1976, Uggetti,C.,et al, 2009
Infantile CNS Spongy Degeneration-14 Cases:Clinical Update
Neurol 40:1876-1882, Gascon,G.G.,et al, 1990
Neurodegenerative Disease of Infancy & Childhood
Ann Neurol 13:351-364, Dyken,P.,et al, 1983