Heterogeneity of Coenzyme Q10 Deficiency
Arch Neurol 69:978-983, Emmanuele, V.,et al, 2012
Sjogren Syndrome: Neurologic Complications
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Neurologic Aspects of Inflammatory Bowel Disease
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Facioscapulohumeral Dystrophy, In Skeletal Muscle Pathology
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Clinicopathologic Conference, Neurosyphilis
NEJM 386:583-590, Case 4-2022, 2022
The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022
A 47-Year-Old With Headache, Vertigo, and Double Vision
Neurol 97:e535-e539, Frey, J.,et al, 2021
Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021
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
Clinicopath Conference, Giant Cell Arteritis
NEJM 362:537-546, Case 4-2010, 2010
Sensorineural Hearing Loss in Children
Lancet 365:879-890, Smith, R.J.H.,et al, 2005
Enhancement of the Eight Cranial Nerve and Labyrinth on MR Imaging in Sudden Sensorineural Hearing Loss Associated with Human Herpesvirus 1 Infection: Case Report
AJNR 22:1380-1382, Lavi,E.S. &Sklar,E.M.L., 2001
Retinitis Pigmentosa
Surv Ophthalmol 33:137-177, Pagon,R.A., 1988
A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
Neurol 102:e209358, Barbosa,A.R.,et al, 2024
Clinical Manifestations and Diagnostic Challenges in a 16-Year-Old With Early-Onset Ataxia
Neurol 104:e210253, Chadha,D.,et al, 2024
A Patient with a History of Weight Loss Presenting with Seizures
Neurol 95:e2038-e2042, Tang, G. & Benavides, D.R., 2020
Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
A Young Man with Progressive Vision and Hearing Loss
JAMA Neurol 73:880-883, Kung, N.H.,et al, 2016
Menieres Disease
Lancet 372:406-414, Saijadi, H. &Paparella,M.M., 2008
Superficial Siderosis
Arch Neurol 64:491-496, Kumar,J, 2007
Susac Syndrome:Report of Four Cases and Review of the Literature
AJNR 25:382-388,351, Do,T.H.,et al, 2004
Mitochondrial Respiratory-Chain Diseases
NEJM 348:2656-2668, DiMauro,S. &Schon,E.A., 2003
Hearing Loss is a Common Feature of Symptomatic Children with Profound Biotinidase Deficiency
J Pediatr 140:242-246, Wolf,B.,et al, 2002
Retinocochleocerebral Vasculopathy
Medicine 77:12-40, Petty,G.W.,et al, 1998
Adult-Onset MELAS
Stroke 27:1420-1423, Gilchrist,J.M.,et al, 1996
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
The Pathogenesis of Superficial Siderosis of the Central Nervous System
Ann Neurol 34:646-653, 635-6361993., Koeppen,A.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
Brief Report:Autosomal Dominant Familial Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia
NEJM 327:1069-1074, Bilous,R.W.,et al, 1992
Hypothyroidism
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Treatment of Sensorineural Deafness Associated with Ulcerative Colitis
BMJ 295:26, Dowd,A.&Rees,W.D.W., 1987
Reversible Acute Sensorineural Hearing Loss Associated with Essential Thrombocytosis
Arch Int Med 146:1813, Grisell,D.L.,et al, 1986
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