Neurological Manifestations in Xeroderma Pigmentosum
Ann Neurol 20:70-75, Mimaki,T.,et al, 1986
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
A 28-Year-Old Woman with Vision Loss and an Unusual Gait
Neurol 97:e1860-e1865, Dohlman, J.C.,et al, 2021
Pantothenate Kinase - Associated Neurodegeneration (PKAN)
Emedicine.Medscape Sept, Hanna, P.A. & Benbadis, S.R., 2018
Early-Onset Head Titubation in a Child with Poretti-Boltshauser Syndrome
Neurol 88:1478-1479, Masson, R.,et al, 2017
The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
Neurol 87:e56-e57, Saini, A.G.,et al, 2016
Sjogren Syndrome
emedicine.medscape.com,Oct, Miller,A.V., 2011
Diagnosis and Therapy in Neuromuscular Disorders: Diagnosis and New Treatments in Mitochondrial Diseases
JNNP 80:943-953, Rahman,S. &Hanna,M.G., 2009
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
Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
NEJM 347:672-680, Case 27-2002, 2002
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
Mucolipidosis Type IV; Characteristic MRI Findings
Neurol 51:565-569, Frei,K.P.,et al, 1998
MRI of White Matter Changes in the Sjogren-Larsson Syndrome
Neuroradiology 37:576-577, Hussain,M.Z.&Aihara,M., 1996
Anticholinergic Poisoning Associated with Herbal Tea
Arch Int Med 155:2245-2248, Hsu,C.K.,et al, 1995
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
Joubert Syndrome:A Clinico-Radiological Study
Neuroradiology 31:502-506, Kendall,B.,et al, 1990
A Clinical Triad to Diagnose Paraneoplastic Retinopathy
Ann Neurol 28:162-167, Jacobson,D.M.,et al, 1990
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
A Mitochondrial DNA Mutation as a Cause of Leber's Hereditary Optic Neuropathy
NEJM 320:1300-1305, Singh,G.,et al, 1989
Cancer-Associated Retinopathy (Car Syndrome) with Antibodies Reacting with Retinal, Optic-Nerve, and Cancer Cells
NEJM 321:1589-1594, 1607-16081989., Thirkill,C.E.,et al, 1989
The Peroxisome:Nervous System Role of a Previously Underrated Organelle, The 1987 Robert Wartenberg Lecture
Neurol 38:1617-1627, Moser,H.W., 1988
Hallervorden-Spatz Syndrome:Clinical and Magnetic Resonance Imaging Correlations
Ann Neurol 24:692-694, Sethi,K.D.,et al, 1988
Retinitis Pigmentosa
Surv Ophthalmol 33:137-177, Pagon,R.A., 1988
Paraneoplastic Syndromes Involving the Eyes
In Walsh & Hoyt's Clin Neuro-ophthal, 4th ed, Williams & Wilkins, Vol 3, p 1735-1746, Miller,N.R., 1988
Optic-Nerve Degeneration in Alzheimer's Disease
NEJM 315:485-487, Hinton,D.R.,et al, 1986
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
Santavuori Disease:Diagnosis by Leukocyte Ultrastructure
Neurol 32:1277-1281, Baumann,R.J.,et al, 1982
Olivopontocerebellar Atrophy in Children:A Report of Seven Cases in Two Families
Ann Neurol 10:355-363, Colan,R.V.,et al, 1981
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
Peripheral Neuropathy in the Cherry-Red Spot-Myoclonus Syndrome (Sialidosis Type I)
Ann Neurol 7:450-456, Steinman,L.,et al, 1980
Basal Ganglia Calcification in Kearns-Sayre Syndrome
Arch Neurol 36:711-713, Robertson,W.C.Jr., 1979
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
Juvenile Amaurotic Idiocy (Neuronal Ceroid Lipofuscinosis) & Lymphocyte Fingerprint Profiles
Ann Neurol 4:531-536, Baumann,R.J.,et al, 1978
Clinical Pathological Conference
Neuronal Veroid-lipfuscinosis, Juvenile Variant, (Batten's disease) , NEJM 299:189., , 1978
Neurological Involvement in the Epidermal Naevus Syndrome
JNNP 41:466, McAuley,D.L.,et al, 1978