Mitochondrial DNA and Genetic Disease
Editorial, Lancet 1:250-2511989., , 1989
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
Mitochondrial DNA Deletions in Progressive External Ophthalmoplegia and Kearns-Sayre Syndrome
NEJM 320:1293-1299, Moraes,C.T.,et al, 1989
Mitochondrial Encephalomyopathy with Associated Aminoacidopathy in a Male Sibship
J Pediatr 115:81-88, Sooth,F.A.,et al, 1989
A Mitochondrial DNA Mutation as a Cause of Leber's Hereditary Optic Neuropathy
NEJM 320:1300-1305, Singh,G.,et al, 1989
A Defect in Mitochondrial Electron-Transport Activity in Leber's Hereditary Optic Neuropathy
NEJM 320:1331-1333, Parker,W.D.,et al, 1989
Brain Metabolism in Mitochondrial Encephalomyopathy:A PET Study
J Comput Assist Tomogr 12:854-857, DeVolder,A.,et al, 1988
Retinitis Pigmentosa
Surv Ophthalmol 33:137-177, Pagon,R.A., 1988
Leigh Disease (Subacute Necrotizing Encephalomyelopathy) :CT & MR in Five Cases
J Comput Assist Tomogr 12:40-44, Geyer,C.A.,et al, 1988
MELAS Syndrome:Characteristic Migrainous & Epileptic Features and Maternal Transmission
Neurol 38:751-754, Montagne,P.,et al, 1988
Diagnosis & Follow-up of Mitochondrial Encephalomyopathy:CT and MR Studies
J Comput Assist Tomogr 12:696-697, Taverni,N.,et al, 1988
Significance of Basal Ganglia Calcification on Computed Tomography in Children
Pediatr Neurosci 14:64-70, Zimmerman,L.A.,et al, 1988
Progressive Dystonia with Bilateral Putaminal Hypodensities
Arch Neurol 44:1184-1187, Berkovic,S.F.,et al, 1987
MELAS Syndrome Involving a Mother & Two Children
Arch Neurol 44:971-973, Driscoll,P.F.,et al, 1987
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
Clinicopath Conf
Kearns-Sayre Syndrome (Oculocraniosomatic Neuromuscular Disease with Mitochondrial Myopathy) , Case, 4-1,NEJM 317:493-501,1987., 1987
Infantile Beriberi Presenting as Subacute Necrotizing Encephalomyelopathy
J Pediatr 110:888-892, Wyatt,D.T.,et al, 1987
Clin. Path. Conference
External Ophthalmoplegia with Mitochondrial Myopathy, Case Record 3-1985, NEJM 312:171-177985., , 1985
Mitochondrial Myopathies
Ann Neurol 17:521-538, DiMauro,S.,et al, 1985
Abnormalities of Eyelid Closure
In Walsh & Hoyt's Clinical Neuro-ophthalmology, Williams & Wilkins, Baltimore, 2:967, Miller,M.R., 1985
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, & Strokelike Episodes:A Distinctive Clinical Syndrome
Ann Neurol 16:481-488, Pavlakis,S.G.,et al, 1984
Mitochondrial Encephalomyopathy:Fluctuating Symptoms & CT
Neurol 34:1456-1460, Yamamoto,T.,et al, 1984
Bilateral Optic Neuropathy with Remission in Young Men, Variation on a Theme by Leber
Arch Neurol 40:2-6, Lessell,S.,et al, 1983
Chronic Progressive External Ophthalmoplegia (CPEO) :Clinical, Morphologic, & Biochemical Studies
Neurol 33:452-461, Mitsumoto,H.,et al, 1983
Ophthalmoscopy of the Retinal Nerve Fiber Layer
Arch Neurol 39:226-233, Newman,N.M.,et al, 1982
Abrupt Neurological Deterioration in Children With Kearns-Sayre Syndrome
Arch Neurol 38:247-250, Coulter,D.L.,et al, 1981
Ophthalmoplegia-Plus
Arch Neurol 38:423-426, Okamoto,T.,et al, 1981
Computerized Tomography in Subacute Necrotizing Encephalomyelopathy (Leigh Disease)
Ann Neurol 10:268-271, Schwartz,W.J.,et al, 1981
Hyper-Endorphin Syndrome in a Child With Necrotizing Encephalomyelopathy
NEJM 303:914-916, Brandt,N.J.,et al, 1980
Demyelinating Radiculopathy in the Kearns-Sayre Syndrome:A Clinicopathological Study
Ann Neurol 8:373-380, Groothuis,D.R.,et al, 1980
Leber's Optic Neuropathy
Editorial, BMJ 280:1097-10981980., , 1980
Familial Subacute Necrotizing Encephalomyelopathy of the Adult Form (Adult Leigh Syndrome)
Ann Neurol 6:200-206, Kalimo,H.,et al, 1979
Familial Kearns-Sayre syndrome
Neurol 29:1172-1174, Schnitzler,E.R.,et al, 1979
Basal Ganglia Calcification in Kearns-Sayre Syndrome
Arch Neurol 36:711-713, Robertson,W.C.Jr., 1979
Extraocular Muscle Biopsy in Chronic Progressive External Ophthalmoplegia
Ann Neurol 6:326-339, Ringel,S.P.,et al, 1979
Leigh's Disease in an Adult with Evidence of"Inhibitor Factor"in Family Members
Ann Neurol 3:519, Whetsell,W.O.,et al, 1978
Kearns-Sayre Syndrome with Hypoparathyroidism
Ann Neurol 3:513, Horwitz,S.J.,et al, 1978
Kearns-Sayre Syndrome & Hypoparathyroidism
Ann Neurol 3:455, Pellock,J.M.,et al, 1978
Leukoencephalopathy in Oculocraniosomatic Neuromuscular Disease With Ragged-Red Fibers
Arch Neurol 35:643-647, Bertorini,T.,et al, 1978
CT Scan Appearances in Leigh's Disease (Subacute Necrotizing Encephalomyelopathy)
Neuroradiology 16:48-50, Hall,K.,et al, 1978
Specificity of the Urine Inhibitor Test for Leigh's Disease
Neurol 24:885, Pincus,J.H.,et al, 1974
Leigh's Syndrome:The Adult Form of Subacute Necrotizing Encephalomyelopathy with Predilection for the Brainstem
Neurol 23:1030, Sipe,J.C., 1973
Genetic Counseling in Retinitis Pigmentosa
MCV Quart 8:283, Noah,V., 1972
Dominant Juvenile Optic Atrophy
Arch Ophthalmol 85:133, Caldwell,J.,et al, 1971
Encephalomyelopathy of Leigh
Editorial BMJ 238, 1971, May., , 1971
"Infantile"Subacute Necrotizing Encephalopathy in the Adult
Neurol 19:749, Feigin,I.,et al, 1969
Chronic Progressive External Ophthalmoplegia
Arch Ophthalmol 82:845, Daroff,R., 1969
Subacute Necrotizing Encephalopathy in Late Adolescence
Arch Neurol 18:478, Hardman,J.M.,et al, 1968
Cerebellar Ataxia in Children
Handout & References., Gilbert,J.J., 1850