Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
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Neurofibromatosis Type 2
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Neurologic Manifestations of von Hippel-Lindau Disease
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Facioscapulohumeral Dystrophy, In Skeletal Muscle Pathology
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Cockayne Syndrome: Review of 140 Cases
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Fucosidosis Revisited:A Review of 77 Patients
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Sclerosteosis:Neurogenetic & Pathophysiologic Analysis of an American Kinship
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A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
Neurol 102:e209358, Barbosa,A.R.,et al, 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
Multiple Cranial Nerve Gadolinium Enhancement in Norrie Disease
Ann Neurol 91:158-159, Jokela, M.,et al, 2022
A 72-Year-Old Woman with Rapidly Progressive Bilateral Hearing Loss
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Bilateral Hearing Loss and Constricted Visual Fields
BMJ 378:e070672, Sachdeva, G. & Shafquat, S., 2022
Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
Neurol 90:e625-e631, Set, K.K.,et al, 2018
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
Review of the Neurological Implications of von Hippel-Lindau Disease
JAMA Neurol 75:620-627, Dornbos, D.,et al, 2018
A Young Man with Progressive Vision and Hearing Loss
JAMA Neurol 73:880-883, Kung, N.H.,et al, 2016
Bilirubin-Induced Neurologic Damage - Mechanisms and Management Approaches
NEJM 369:2021-2030, Watchko, J.F.,et al, 2013
Clinicopathologic Conference, Susacs Syndrome (retinocochleocerebral vasculopathy)
NEJM 365:549-559, Case 24-2011, 2011
Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and KCNJ10 Mutations
NEJM 360:1960-1970, Bockenhauer,D.,et al, 2009
Long-Term Outcomes Among Adult Survivors of Childhood Central Nervous System Malignancies in the Childhood Cancer Survivor Study
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Clinical Features: Outcome, and Meningococcal Genotype in 258 Adults With Meningococcal Meningitis: A Prospective Cohort Study
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Community-Acquired Bacterial Meningitis in Adults
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Metabolic Disease and Stroke: MELAS
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Clinicopath Conf, Charcot-Marie-Tooth Disease Type 2, with Aides Pupil and a Mutation in MPZ Gene
NEJM 354:2584-2592, Case 18-2006, 2006
Mitochondrial DNA Polymerase-y and Human Disease
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Sensorineural Hearing Loss in Children
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Neurobrucellosis:Clinical and Neuroimaging Correlation
AJNR 25:395-401, Al-Sous,M.W.,et al, 2004
Hearing Loss is a Common Feature of Symptomatic Children with Profound Biotinidase Deficiency
J Pediatr 140:242-246, Wolf,B.,et al, 2002
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Clinicopath Conf,Syndrome of Mitochondrial Encephalopathy,Lactic Acidosis,and Stroke-Like Episodes (MELAS),Case 39-1998
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Endolymphatic Sac Tumors, A Source of Morbid Hearing Loss in von Hippel-Lindau Disease
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Bilirubin Metabolism and Kernicterus
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Adult-Onset MELAS
Stroke 27:1420-1423, Gilchrist,J.M.,et al, 1996
Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
NEJM 335:1169-1175, 12221996., Durr,A.,et al, 1996
Mitochondrial Neurogastrointestinal Encephalomyopathy (MMGIE) :Clin Biochem & Genetic Features of Auto Recess Mitochond Disorder
Neurol 44:721-727, Hirano,M.,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
MR Imaging of the Spinal Cord in 23 Subjects with ALD-AMN Complex
AJR 158:413-416, Snyder,R.D.,et al, 1992
Brief Report:Autosomal Dominant Familial Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia
NEJM 327:1069-1074, Bilous,R.W.,et al, 1992
A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 1992
Anderson-Fabry Disease
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Chronic Neurologic Manifestations of Lyme Disease
NEJM 323:1438-1444, Logigian,E.L.,et al, 1990
Neurofibromatosis 2 (Bilateral Acoustic Neuro-fibromatosis)
NEJM 318:684-688, Martuza,R.L.&Eldridge,R., 1988
Neurodevelopmental Outcome in Babies Weighing Less than 2001 g at Birth
BMJ 294:1582-1586, Marlow,M.,et al, 1987
Clinical Findings in Four Children with Biotinidase Deficiency Detected Through a Statewide Neonatal Screening Program
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Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
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Phytanic Acid Storage Disease:Hearing Maintained After 15 Years of Dietary Treatment
Neurol 33:237-240, Djupesland,G.,et al, 1983
Mucopolysaccaridosis IV (Morquio Syndrome) , in The Metabolic Basis of Inherited Disease
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Progressive Pontobulbar Palsy With Deafness
Arch Neurol 38:186-190, Brucher,J.M.,et al, 1981
Normal Pressure Hydrocephalus, Recog & Relation to Neuro Abnormalities in Cockayne's Sydrome
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