Pediatric Leigh Syndrome
Ann Neurol 88:218-232, Alves, C.A.P.F.,et al, 2020
Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018
Dentate Update: Imaging Features of Entities that Affect the Dentate Nucleus
AJNR 38:1467-1474, Bond, K.M.,et al, 2017
Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease
JAMA Neurol 73:668-674, Martikainen, M.H.,et al, 2016
Inherited Metabolic Diseases of the Nervous System, Subacute Necrotizing Encephalopathy (Leigh Disease)
Adams & Victors Principles of Neurology, Chp 37, pg 996, Ropper, A.H.,et al, 2014
Differential Diagnosis of Bilateral Abnormalities of the Basal Ganglia and Thalamus
RadioGraphics 31:5-30, Hegde,A.N.,et al, 2011
The Use of Neuroimaging in the Diagnosis of Mitochondrial Disease
Dev Disabil Res Rev 16:129-135, Friedman, S.D.,et al, 2010
Bilateral Thalamic Lesions
AJR 192:W53-W62, Smith,A.B.,et al, 2009
Clinicopath Conf., Leighs syndrome, Intraventricular Hemorrhage and Periventricular Leukomalacia
NEJM 359:1156-1166, Case 28-2008, 2008
Leigh Syndrome: Serial MR Imaging and Clinical Follow-Up
AJNR 21:1502-1509, Arii,J. & Tanabe,Y., 2000
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Clinicopath Conf
Infantile Striatonigral Regeneration, with Cerebellar Degeneration, Familial, Case 30-1992, NEJM 327, 261-1992., 1992
MR Findings in Patients with Subacute Necrotizing Encephalomyelopathy (Leigh Syndrome)
AJR 154:1269-1274, Medina,L.,et al, 1990
Leigh Disease:Value of CT in Presymptomatic Patients and Variability of the Lesions with Time
J Comput Assist Tomogr 13:207-210, Taccone,A.,et al, 1989
Leigh Disease (Subacute Necrotizing Encephalomyelopathy) :CT & MR in Five Cases
J Comput Assist Tomogr 12:40-44, Geyer,C.A.,et al, 1988
Progressive Dystonia with Bilateral Putaminal Hypodensities
Arch Neurol 44:1184-1187, Berkovic,S.F.,et al, 1987
Infantile Beriberi Presenting as Subacute Necrotizing Encephalomyelopathy
J Pediatr 110:888-892, Wyatt,D.T.,et al, 1987
CT Scan Appearances in Leigh's Disease (Subacute Necrotizing Encephalomyelopathy)
Neuroradiology 16:48-50, Hall,K.,et al, 1978
Encephalomyelopathy of Leigh
Editorial BMJ 238, 1971, May., , 1971
Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
Ann Neurol 39:343-351, Rahman,S.,et al, 1996
Neurodegenerative Diseases of Childhood:MR and CT Evaluation
J Comput Assist Tomogr 15:210-222, Mirowitz,S.A.,et al, 1991
Magnetic Resonance Imaging in Autopsy-Proved Adult Subacute Necrotizing Encephalomyelopathy (Leigh's Disease)
Arch Neurol 44:563-566, Kissel,J.T.,et al, 1987
Cytochrome c Oxidase Deficiency in Leigh Syndrome
Ann Neurol 22:498-506, DiMauro,S.,et al, 1987
Computerized Tomography in Subacute Necrotizing Encephalomyelopathy (Leigh Disease)
Ann Neurol 10:268-271, Schwartz,W.J.,et al, 1981
Leigh's Disease in an Adult with Evidence of"Inhibitor Factor"in Family Members
Ann Neurol 3:519, Whetsell,W.O.,et al, 1978
Leigh's Syndrome:The Adult Form of Subacute Necrotizing Encephalomyelopathy with Predilection for the Brainstem
Neurol 23:1030, Sipe,J.C., 1973