Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, & Strokelike Episodes:A Distinctive Clinical Syndrome
Ann Neurol 16:481-488, Pavlakis,S.G.,et al, 1984
Osteopetrosis, Renal Tubular Acidosis & Basal Ganglia Calcification in Three Sisters
Am J Med 69:64-74, Whythe,M.P.,et al, 1980
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Cockayne Syndrome: Review of 140 Cases
Am J Med Genet 42:68-84, Nance,M.A. &Berry,S.A., 1992
Normal Pressure Hydrocephalus, Recog & Relation to Neuro Abnormalities in Cockayne's Sydrome
Arch Neurol 35:337, Brumback,R.A.,et al, 1978
Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
AJNR 40:903-907, Hartin, I.,et al, 2019
Neuroimaging in Cockayne Syndrome
AJNR 31:1623-1630, Koob,M.,et al, 2010
Aicardi-Gouti�res Syndrome: Neuroradiologic Findings and Follow-up
AJNR 30:1971-1976, Uggetti,C.,et al, 2009
Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
T1 Hyperintensity in the Pulvinar: Key Imaging Feature for Diagnosis of Fabry Disease
AJNR 24:916-921, Takanashi,J.,et al, 2003
Hyperintense Basal Ganglia on T1-Weighted MR Imaging
AJR 172:1109-1115, Lai,P.H.,et al, 1999
Thalamic Lesions in Infancy
Editorial, Lancet 339:1143-11451992., , 1992
Rapid Postanoxic Calcification of the Basal Ganglia
Neurol 42:2144-2146, Midroni,G.&Willinsky,R., 1992
Mineralization of the Basal Ganglia Detected by CT in Hallervorden-Spatz Syndrome
Neurol 38:154-155, Tennison,M.B.,et al, 1988
Carbonic Anhydrase II Deficiency in 12 Families with Osteopetrosis with Renal Tubular Acidosis & Cerebral Calcification
NEJM 313:139-181, Sly,W.S.,et al, 1985
Neurological Complications in Infants & Children with Acquired Immune Deficiency Syndrome
Ann Neurol 18:560-566, Belman,A.L.,et al, 1985
Cockayne Syndrome
J Comput Assist Tomogr 6:1172-1174, Levinson,E.D.,et al, 1982
Lactic Acidemia, Mitochondrial Myopathy, & Basal Ganglia Calcification
Neurol 29:1057-1061, Markesbery,Wm.R., 1979
Cockayne Syndrome:Unusual Neuropathological Findings & Review of the Literature
Ann Neurol 6:340-348, 1979, Soffer,D.,et al, 1979