A Woman with Progressive Painless Sequential Monocular Vision Loss
Neurol 101:e2197-e2201, Ditrapani,J.,et al, 2023
Bilateral Hearing Loss and Constricted Visual Fields
BMJ 378:e070672, Sachdeva, G. & Shafquat, S., 2022
Pantothenate Kinase - Associated Neurodegeneration (PKAN)
Emedicine.Medscape Sept, Hanna, P.A. & Benbadis, S.R., 2018
The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
Neurol 87:e56-e57, Saini, A.G.,et al, 2016
A 23-Year-Old Man With Seizures and Visual Deficit
Neurol 70:73-78, Boustany,R.-M.,et al, 2008
Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
NEJM 348:33-40, Hayflick,S.J.,et al, 2003
MRI of White Matter Changes in the Sjogren-Larsson Syndrome
Neuroradiology 37:576-577, Hussain,M.Z.&Aihara,M., 1996
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Mitochondrial Neurogastrointestinal Encephalomyopathy (MMGIE) :Clin Biochem & Genetic Features of Auto Recess Mitochond Disorder
Neurol 44:721-727, Hirano,M.,et al, 1994
Acquired Ocular Visual Impairment in Children, 1960-1989
Am J Dis Child 147:325-328, Robinson,G.C.&Jan,J.E., 1993
Wolfram Syndrome:Evidence of a Diffuse Neurodegenerative Disease by Magnetic Resonance Imaging
Neurol 42:1220-1224, 1992,, Rando,T.A.,et al, 1992
Cockayne Syndrome: Review of 140 Cases
Am J Med Genet 42:68-84, Nance,M.A. &Berry,S.A., 1992
Hallervorden-Spatz Syndrome and Brain Iron Metabolism
Arch Neurol 48:1285-1293, Swaiman,K.F., 1991
A Familial Syndrome of Dystonia, Blepharospasm, and Pigmentary Retinopathy
Neurol 40:1359-1363, Coppeto,J.R.&Lessel,S., 1990
Refsum Disease
In Rowland's Merritt's Textbk of Neurology, Lea & Febiger, Phila, 8thEd, p. 509, Menkes,J.H., 1989
Retinitis Pigmentosa
Surv Ophthalmol 33:137-177, Pagon,R.A., 1988
Hallervorden-Spatz Syndrome:Clinical and Magnetic Resonance Imaging Correlations
Ann Neurol 24:692-694, Sethi,K.D.,et al, 1988
Tangier Disease (Hypo-a-Lipoproteinemia)
Textbook of Child Neurology, 3rd Ed. , Phila, Lea & Febiger, Ch 1, p 86, Menkes,J.H., 1985
Olivopontocerebellar Atrophy with Dementia, Blindness, & Chorea, Response to Baclofen
Arch Neurol 42:757-758, Trauner,D.A., 1985
Small Bowel Resection with Vitamin E Deficiency & Progressive Spinocerebellar Syndrome
Neurol 34:1046-1052, Bertoni,J.M.,et al, 1984
Phytanic Acid Storage Disease:Hearing Maintained After 15 Years of Dietary Treatment
Neurol 33:237-240, Djupesland,G.,et al, 1983
Heredopathia Atactica Polyneuritiformis
Arch Neurol 38:605-606, Refsum,S., 1981
Progressive Bulbar Paralysis Associated With Neurgl Deafness, A Nosological Entity
Arch Neurol 37:214-216, Alberica,R.,et al, 1980
Abetalipoproteinemia, Report of Two Cases & Review of Therapy
Arch Neurol 37:659-662, Illingworth,D.R.,et al, 1980
Familial Tapetorentinal Degeneration & Epilepsy
Arch Neurol 36:544-546, Cohan,S.L.,et al, 1979
Kearns-Sayre Syndrome & Hypoparathyroidism
Ann Neurol 3:455, Pellock,J.M.,et al, 1978
Clinical & Extraneural Histologic Diagnosis of Neuronal Ceroidlipofuscinosis
Neurol 28:1008-1012, Miley,C.E.III.,et al, 1978
Tapetoretinal Degeneration in Childhood Presenting as a Disturbance of Behavior
BMJ 202, 1972 Jan., Harcourt,B.,et al, 1972
Genetic Counseling in Retinitis Pigmentosa
MCV Quart 8:283, Noah,V., 1972
Neurocutaneous Disease
in Dermatology in General Medicine, Fitzpatrick, et al, eds, McGraw Hill, 1971, pp. 1379-1434., Adams,R., 1971
Seronegative Ocular Syphilis & Neurosyphilis, Neuro-Ophthalmology Symposium, U. of Miami
(Ed) , St. Louis:C. V. Mosby Co. , 1965, p. 1, Smith,J.L., 1965
Ischemic Retinopathy from Prolonged Orbital Compression
NEJM 390::e14, Chen,Y-K and Chen C-L, 2024
Focusing on the Eye Signs of Alport Syndrome in a 40-Year-Old Man Who Previously Had a Kidney Transplant and Hearing Loss
Lancet 401:e2, Kovalchuk,B. & Khoramnia,R., 2023
Cerebrovascular Ischemic Events in Patients with Takayasu Arteritis
Stroke 53:1550-1557, Mirouse, A.,et al, 2022
Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021
Chorioretinopathy After Corticosteroid Treatment for Optic Neuritis
Neurol 96:e305-e306, Ling, J. and Micieli, J.A., 2021
A 28-Year-Old Woman with Vision Loss and an Unusual Gait
Neurol 97:e1860-e1865, Dohlman, J.C.,et al, 2021
Sudden Loss of Vision at the Gym
BMJ 375:e067964, Ng, J.K.Y.,et al, 2021
Clinicopathologic Conference,Aceruloplasminemia, Hereditary
NEJM 383:1974-1983, Case 35-2020, 2020
Clinicopathologic Conference, Ocular Syphilis
NEJM 380:1062-1071, Case 8-2019, 2019
Clinicopathologic Conference, Susacs Syndrome
NEJM 379:2152-2159, Case 37-2018, 2018
Behcet Disease
emedicine.medscape.com Dec, Davey-Ranasinghe, N. & Diamond, H.S., 2018
Early-Onset Head Titubation in a Child with Poretti-Boltshauser Syndrome
Neurol 88:1478-1479, Masson, R.,et al, 2017
A Young Man with Acute Encephalopathy Loss of Vision, and Upper Motor Neuron Signs
Neurol 86:e173-e176, Elkhider, H.,et al, 2016
A 44-Year-Old Man with Eye, Kidney, and Brain Dysfunction
Ann Neurol 79:507-519, Vodopivec, I.,et al, 2016
Blurred Vision and Epistaxis
BMJ 348:g91, Shirley, K. & McNicholl, F.P., 2014
Opportunistic Infections of the Retina in Patients with Aquaporin-4 Antibody Disease
JAMA Neurol 71:1429-1432, George, J.S.,et al, 2014
Posterior Reversible Encephalopathy Syndrome with Spinal Cord Involvement
Neurol 83:2002-2006,1996, de Havenon, A.,et al, 2014
Acute Myopia and Angle Closure Glaucoma from Topiramate in a Seven-Year-Old: A Case Report and Review of the Literature
BMC Pediatrics 14:96, Rapoport, Y.,et al, 2014