Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
NEJM 377:2376-2385, Case 38-2017, 2017
Cerebral Abnormalities in Adults with Ataxia-Telangiectasia
AJNR 35:119-123, Lin, D.D.M.,et al, 2014
Clinicopathologic Conference, Chronic Meningoencephalitis Consistent with Rasmussens Encephalitis
NEJM 371:1737-1746, Case 34-2014, 2014
Current Concept of Neuromyelitis Optica (NMO) and NMO Spectrum Disorders
JNNP doi:10.1136/JNNP-2012-302310, Jacob, A.,et al, 2012
Clinicopath Conf, Infantile Krabbe Disease
NEJM 362:346-356, Case 3-2010, 2010
Neuroimaging in Cockayne Syndrome
AJNR 31:1623-1630, Koob,M.,et al, 2010
Clinical and Neuroimaging Findings of Cree Leukodystrophy: A Retrospective Case Series
AJNR 31: 1418-1423, Harder,S.,et al, 2010
Abnormal Brain Development in Newborns With Congenital Heart Disease
NEJM 357:1928-1938,1971, Miller,S.P.,et al, 2007
Proton MR Spectroscopic Imaging Depicts Diffuse Axonal Injury in Children with Traumatic Brain Injury
AJNR 26:1276-1285, Holshouser,B.A.,et al, 2005
Thiamine Deficiency in Infants: MR Findings in the Brain
AJNR 26:1668-1674, Kornreich,Ll,et al, 2005
A New Metabolite Contributing to N-Acetyl Signal in 1H MRS of the Brain in Salla Disease
Neurol 52:1668-1672, Varho,T.,et al, 1999
Sjogren-Larsson Syndrome, Clinical and MRI/MRS Findings in FALDH-Deficient Patients
Neurol 52:1345-1352,1307, Van Domburg,P.H.M.F.,et al, 1999
Evidence From Proton Magnetic Resonance Spectroscopy for a Metabolic Cascade of Neuronal Damage in Shaken Baby Syndrome
Pediatrics 99:4-14, Haseler,L.J.,et al, 1997
Leukoencephalopathy with Swelling & A Discrepantly Mild Clinical Course in Eight Children
Ann Neurol 37:324-334, van der Knaap,M.S.,et al, 1995