Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
Neurol 90:e625-e631, Set, K.K.,et al, 2018
Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and KCNJ10 Mutations
NEJM 360:1960-1970, Bockenhauer,D.,et al, 2009
Metabolic Disease and Stroke: MELAS
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Mitochondrial DNA Polymerase-y and Human Disease
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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MR Imaging of the Spinal Cord in 23 Subjects with ALD-AMN Complex
AJR 158:413-416, Snyder,R.D.,et al, 1992
The Leaking Labyrinth
BMJ 293:220-221, O'Donoghue,G.M.&Colman,B.H., 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
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Neurological Manifestations of Fabry Disease in Female Carriers
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Ataxia, Vertigo, & Hearing Loss
Arch Otolarygn l00:l30, Healy,G.B.,et al, 1974
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
Neuroimaging Features of Biotinidase Deficiency
AJNR 44:328-333, Biswas,A.,et al, 2023
Pachymeningitis and Aortitis as the Initial Presentation of Granulomatosis with Polyangiitis
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Multiple Cranial Nerve Gadolinium Enhancement in Norrie Disease
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Bilateral Hearing Loss and Constricted Visual Fields
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A 49-Year-OLD Woman with Progressive Numbness and Gait Instability
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Balance, Falls, and Hearing Loss: Is It Time for a Paradigm Shift?
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A Patient with a History of Weight Loss Presenting with Seizures
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A Woman in her 40s with Transient Neurological Symptoms, Migraine Headaches, and Hearing Loss
JAMA Neurol 76:504-505, Roshal, D.A.,et al, 2019
Kelch-Like Protein 11 Antibodies in Seminoma-Associated Paraneoplastic Encephalitis
NEJM 381:47-54, Mandel-Brehm, C.,et al, 2019
Review of the Neurological Implications of von Hippel-Lindau Disease
JAMA Neurol 75:620-627, Dornbos, D.,et al, 2018
Clinicopathologic Conference, Susacs Syndrome
NEJM 379:2152-2159, Case 37-2018, 2018
A Young Man with Progressive Vision and Hearing Loss
JAMA Neurol 73:880-883, Kung, N.H.,et al, 2016
Limbic Encephalitis as the Presenting Feature of Sj�gren Syndrome
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Heterogeneity of Coenzyme Q10 Deficiency
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A Rare Cause of Gait Ataxia
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Cogan Syndrome
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Neurofibromatosis Type 2
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Menieres Disease
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Neurologic Manifestations of von Hippel-Lindau Disease
JAMA 300:1334-1342, Butman,J.A.,et al, 2008
Superficial Siderosis
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Causative Factors and Epidemiology of Bilateral Vestibulopathy in 255 Patients
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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
Sensorineural Hearing Loss in Children
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Menieres Disease or Migraine? The Clinical Significance of Fluctuating Hearing Loss With Vertigo
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Clinicopath Conf., MELAS Syndrome
NEJM 353:2271-2280, Case 36-2005, 2005
Neurobrucellosis:Clinical and Neuroimaging Correlation
AJNR 25:395-401, Al-Sous,M.W.,et al, 2004
Neurologic Manifestations in Primary Sjogren Syndrome: A Study of 82 Patients
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Mitochondrial Respiratory-Chain Diseases
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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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Superficial Siderosis of the Central Nervous System,A Late Complication of Cerebellar Tumors
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Retinocochleocerebral Vasculopathy
Medicine 77:12-40, Petty,G.W.,et al, 1998
Susac Syndrome
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Endolymphatic Sac Tumors, A Source of Morbid Hearing Loss in von Hippel-Lindau Disease
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Ocular Findings in Ramsay Hunt Syndrome
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