Mitochondrial DNA Polymerase-y and Human Disease
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
A Woman with Progressive Painless Sequential Monocular Vision Loss
Neurol 101:e2197-e2201, Ditrapani,J.,et al, 2023
Mitochondrial Neurogastrointestinal Encephalomyopathy (MMGIE) :Clin Biochem & Genetic Features of Auto Recess Mitochond Disorder
Neurol 44:721-727, Hirano,M.,et al, 1994
Oculomotor, Auditory, and Vestib ular Responses in Myotonic Dystrophy
Arch Neurol 49:954-960, Verhagen,W.I.M.,et al, 1992
Kearns-Sayre Syndrome & Hypoparathyroidism
Ann Neurol 3:455, Pellock,J.M.,et al, 1978
Clinicopathologic Conference, Neurosyphilis
NEJM 386:583-590, Case 4-2022, 2022
Bilateral Hearing Loss and Constricted Visual Fields
BMJ 378:e070672, Sachdeva, G. & Shafquat, S., 2022
Neurological Manifestations Among US Government Personnel Reporting Directional Audible and Sensory Phenomena in Havana, Cuba
JAMA 319:1125-1133, 1098, 1079, Swanson, R.L.,et al, 2018
Clinicopathologic Conference, Susacs Syndrome
NEJM 379:2152-2159, Case 37-2018, 2018
Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
50 Year Old Man with Cloudy Vision, Hearing Loss, and Unsteadiness
NEJM 374:2586-2593, Eliott, D.,et al, 2016
Bilirubin-Induced Neurologic Damage - Mechanisms and Management Approaches
NEJM 369:2021-2030, Watchko, J.F.,et al, 2013
Cogan Syndrome An Analysis of Reported Neurological Manifestations
The Neurologist 18:55-63, Antonios,N. and Silliman,S., 2012
A Rare Cause of Gait Ataxia
Lancet 378:1274, Rous, C.,et al, 2011
Cogan Syndrome
www.medlink.com, Feb, Ramachandran, T.S., 2010
Mitochondrial Respiratory-Chain Diseases
NEJM 348:2656-2668, DiMauro,S. &Schon,E.A., 2003
Ocular Findings in Ramsay Hunt Syndrome
J Neuro-Ophthalmol 17:199-201, Mansour,A.M.&Bailey,B.J., 1997
Bilirubin Metabolism and Kernicterus
Adv Pediatr 44:173-229, Gourley,G.R., 1997
Neurologic Aspects of Inflammatory Bowel Disease
Neurol 45:416-421, Lossos,A.,et al, 1995
Facioscapulohumeral Muscular Dystrophy in Early Childhood
Arch Neurol 51:387-394, Brouwer,O.F.,et al, 1994
Neurological Involvement in Wegener's Granulomatosis:An Analysis of 324 Consecutive Pts at the Mayo Clin
Neurol 33:4-9, Nishino,H.,et al, 1993
Wolfram Syndrome:Evidence of a Diffuse Neurodegenerative Disease by Magnetic Resonance Imaging
Neurol 42:1220-1224, 1992,, Rando,T.A.,et al, 1992
Facioscapulohumeral Dystrophy, In Skeletal Muscle Pathology
Churchhill Livingstone, NY, p285, 30392., Mastaglia,F.L.&Walton,J., 1992
Cockayne Syndrome: Review of 140 Cases
Am J Med Genet 42:68-84, Nance,M.A. &Berry,S.A., 1992
Hearing Loss in Facioscapulohumeral Muscular Dystrophy
Neurol 41:1878-1881, Brouwer,O.F.,et al, 1991
Use of Immunosuppressive Agents in the Treatment of Severe Ocular and Vascular Manifestations of Cogan's Syndrome
Am J Med 88:296-301, Allen,N.B.,et al, 1990
Anderson-Fabry Disease
Editorial, Lancet 336:24-251990., , 1990
Clinicopath Conf
Subacute Cerebellar Degeneration, Cystadenocarcinoma of Ovary, (with Paraneoplastic Syndrome) , Case, 34-1EJM 321:524-535,1989., 1989
Clinicopath Conf
Wegner's Granulomatosis Involving Paranasal Sinuses & Leptomeninges, Case Record 12-1988, NEJM 318:7, 0-7688., 1988
Hearing Loss in Myotonic Dystrophy
Ann Neurol 23:202-203, Wright,R.B.,et al, 1988
The Peroxisome:Nervous System Role of a Previously Underrated Organelle, The 1987 Robert Wartenberg Lecture
Neurol 38:1617-1627, Moser,H.W., 1988
Clinicopath Conf
Kearns-Sayre Syndrome (Oculocraniosomatic Neuromuscular Disease with Mitochondrial Myopathy) , Case, 4-1,NEJM 317:493-501,1987., 1987
Cogan's Syndrome:18 Cases & a Review of the Literature
Mayo Clin Proc 61:344-361, Vollertsen,R.S.,et al, 1986
Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
Ann Neurol 18:614-617, Wolf,B.,et al, 1985
Phytanic Acid Storage Disease:Hearing Maintained After 15 Years of Dietary Treatment
Neurol 33:237-240, Djupesland,G.,et al, 1983
Acoustic Tumors:Atypical Features & Recent Diagnostic Tests
Neurol 33:211-221, Hart,R.G.,et al, 1983
Mucopolysaccaridosis IV (Morquio Syndrome) , in The Metabolic Basis of Inherited Disease
(Ed) 5th Ed. , McGraw-Hill, New York, p. 766, Stanbury,J.B., 1983
Facioscapulohumeral Dystrophy Associated with Hearing Loss & Coats Syndrome
Ann Neurol 12:395-398, Taylor,D.A.,et al, 1982
Heredopathia Atactica Polyneuritiformis
Arch Neurol 38:605-606, Refsum,S., 1981
Neurologic Disturbances in Pagets Disease of Bone:Response to Calcitonin
Neurol 29:448-457, Chen,J.R.,et al, 1979
Neurological Manifestations of Fabry Disease in Female Carriers
Ann Neurol 4:537-540, Bird,T.D.,et al, 1978
Juvenile Diabetes Mellitus & Optic Atrophy
Arch Neurol 34:759, Lessell,S.,et al, 1977
Infiltration of the Leptomeninges by Systemic Cancer:a Clinical & Pathologic Study
Arch Neurol 30:122, Olson,M.E.,et al, 1974
Mucopolysaccaridosis IV (Morquio Syndrome) , in Heritable Disorders of Connective Tissue
(Ed) 4th Ed, The C. V. Mosby Co, St. Louis, p. 583, McKusick,V.A., 1972
The Uveomeningoencephalitic Syndrome
Neurol 16, 6031966., Riehl,J.L.,et al, 1966