Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
Heterogeneity of Coenzyme Q10 Deficiency
Arch Neurol 69:978-983, Emmanuele, V.,et al, 2012
Sjogren Syndrome: Neurologic Complications
www.Medlink.com,Jan, Roman,G.C., 2010
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Neurodegeneration and Diabetes:UK Nationwide Study of Wolfram (DIDMOAD) Syndrome
Lancet 1458-1463, Barrett,T.G.,et al, 1995
Mitochondrial Myopathies
Ann Neurol 17:521-538, DiMauro,S.,et al, 1985
Lactic Acidemia, Mitochondrial Myopathy, & Basal Ganglia Calcification
Neurol 29:1057-1061, Markesbery,Wm.R., 1979
A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
Neurol 102:e209358, Barbosa,A.R.,et al, 2024
A 66-Year-Old Woman With Progressive Encephalopathy and Bilateral Hearing Loss
Neurol 100:254-258, Rivers,D.,et al, 2023
The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022
Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021
A Patient with a History of Weight Loss Presenting with Seizures
Neurol 95:e2038-e2042, Tang, G. & Benavides, D.R., 2020
Hearing and Vision Loss in an Older Man
JAMA Neurol 75:1439-1440, Ho, V.M.,et al, 2018
Cogan Syndrome An Analysis of Reported Neurological Manifestations
The Neurologist 18:55-63, Antonios,N. and Silliman,S., 2012
Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011
Clinical Reasoning: Seizures in a Child With Sensorineural Deafness and Agitation
Neurol 74:e61-e63, Auvin,S., et al, 2010
Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and KCNJ10 Mutations
NEJM 360:1960-1970, Bockenhauer,D.,et al, 2009
Update on Susacs Syndrome
Curr Opin Neurol 18:311-314, Gross,M. &Eliashar,R., 2005
Mitochondrial Respiratory-Chain Diseases
NEJM 348:2656-2668, DiMauro,S. &Schon,E.A., 2003
Sensorineural Hearing Loss: A Reversible Effect of Vigabatrin
Neurol 61:1020-1021, Papdeas,E.,et al, 2003
Bilirubin Metabolism and Kernicterus
Adv Pediatr 44:173-229, Gourley,G.R., 1997
Adult-Onset MELAS
Stroke 27:1420-1423, Gilchrist,J.M.,et al, 1996
Neurologic Aspects of Inflammatory Bowel Disease
Neurol 45:416-421, Lossos,A.,et al, 1995
Adverse Outcomes of Bacterial meningitis in School-Age Survivors
Pediatrics 95:646-655, Grimwood,K.,et al, 1995
Clin & Path Features of an Autosomal Dominant, Adult-Onset Leukodystrophy Simul Chronic Progressive MS
Arch Neurol 51:757-766, Schwankhaus,J.D.,et al, 1994
Epidemic Neuropathy in Cuba:A Plea to End the United States Economic Embargo on a Humanitarian Basis
Neurol 44:1784-1786, Roman,G.C., 1994
Wolfram Syndrome:Evidence of a Diffuse Neurodegenerative Disease by Magnetic Resonance Imaging
Neurol 42:1220-1224, 1992,, Rando,T.A.,et al, 1992
Brief Report:Autosomal Dominant Familial Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia
NEJM 327:1069-1074, Bilous,R.W.,et al, 1992
Cockayne Syndrome: Review of 140 Cases
Am J Med Genet 42:68-84, Nance,M.A. &Berry,S.A., 1992
Eight-Year Outcome in Infants with Birth Weight of 500 to 999 Grams
Victorial Infant Collabor, Study Group, J Pediatr 118:761-767991., , 1991
Anderson-Fabry Disease
Editorial, Lancet 336:24-251990., , 1990
Vision and Hearing During Deferoxamine Therapy
J Pediatr 117:326-330, Cohen,A.,et al, 1990
Seizures and Other Neurologic Sequelae of Bacterial Meningitis in Children
NEJM 323:1651-1657, Pomeroy,S.L.,et al, 1990
The Sequelae of Haemophilus Influenzae Meningitis in School-Age Children
NEJM 323:1657-1663, Taylor,G.H.,et al, 1990
Sensorineural Hearing Loss:A Reversible Effect of Valproic Acid
Neurol 40:1896-1898, Armon,C.,et al, 1990
Hypothyroidism
In Neurologic Clinics, W. B. Saunders Co, Phila, 7:492-493., Kaminski,H.J.&Ruff,R.L., 1989
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
Osteogenesis Imperfecta, in Heritable Disorders of Connective Tissue
(Ed) , 4th edition, The C. V. Mosby Company St. Louis, Chap. 8, pp. 390. , 1972, McKusick,V.A., 1972
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