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
Unpacking the CNS Manifestations of Epstein-Barr Virus:An Imaging Perspective
AJNR 44:1002-1008, Soni,N.,et al, 2023
Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018
Intractable Epilepsy and Progressive Cognitive Decline in a Young Man
JAMA Neurol 74:737-740, Cohen, A.L.,et al, 2017
Progressive Gait Deterioration in Adolescents with Dravet Syndrome
Arch Neurol 69:873-878, Rodda, J.M.,et al, 2012
Clinical Reasoning: A 9-year-old Girl With Seizures and Encephalopathy
Neurol 74:e97-e100, Nguyen,T.P. &El-Hakam,L.M., 2010
Practice Parameter: Evaluation of the Child with Microcephaly (An Evidence-Based Review): Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society
Neurol 73:887-897, Ashwal,S.,et al, 2009
Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003
Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
NEJM 347:672-680, Case 27-2002, 2002
Discontinuation of Antiepileptic Drug Treatment after Two Seizure-Free Yrs in Children with Cerebral Palsy
Pediatr 97:192-197, Delgado,M.R.,et al, 1996
Cat Scratch Disease, Acute Encephalopathy & Other Neurologic Manifestations
Am J Dis Child 145:98-101, Carithers,H.A.&Margileth,A.M., 1991
Clinical Uses of Intravenous Immunoglobulins
Ann Int Med 112:278-292, Berkman,S.A.,et al, 1990