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Neuroimaging Features of Biotinidase Deficiency
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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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Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
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Review of the Neurological Implications of von Hippel-Lindau Disease
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Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
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A Young Man with Progressive Vision and Hearing Loss
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Facial Grimacing and Sensorineural Hearing Loss in a Woman with Cirrhosis of the Liver
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Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and KCNJ10 Mutations
NEJM 360:1960-1970, Bockenhauer,D.,et al, 2009
Neurofibromatosis Type 2
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Neurologic Manifestations of von Hippel-Lindau Disease
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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
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Mitochondrial DNA Polymerase-y and Human Disease
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Hearing Loss is a Common Feature of Symptomatic Children with Profound Biotinidase Deficiency
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Endolymphatic Sac Tumors, A Source of Morbid Hearing Loss in von Hippel-Lindau Disease
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Presymptomatic Diagnosis of Neurofibromatosis 2 Using Linked Genetic Markers, Neuroimging, and Ocular Examinations
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Mitochondrial Neurogastrointestinal Encephalomyopathy (MMGIE) :Clin Biochem & Genetic Features of Auto Recess Mitochond Disorder
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MR Imaging of the Spinal Cord in 23 Subjects with ALD-AMN Complex
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Brief Report:Autosomal Dominant Familial Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia
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Cockayne Syndrome: Review of 140 Cases
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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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Sclerosteosis:Neurogenetic & Pathophysiologic Analysis of an American Kinship
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Phytanic Acid Storage Disease:Hearing Maintained After 15 Years of Dietary Treatment
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Progressive Pontobulbar Palsy With Deafness
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Normal Pressure Hydrocephalus, Recog & Relation to Neuro Abnormalities in Cockayne's Sydrome
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A 66-Year-Old Woman With Progressive Encephalopathy and Bilateral Hearing Loss
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Pachymeningitis and Aortitis as the Initial Presentation of Granulomatosis with Polyangiitis
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A Woman with Progressive Painless Sequential Monocular Vision Loss
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A 24-Year-Old Pregnant Woman with Headache and Behavioral Change Progressing to Coma
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Clinicopathologic Conference, Neurosyphilis
NEJM 386:583-590, Case 4-2022, 2022
A 72-Year-Old Woman with Rapidly Progressive Bilateral Hearing Loss
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A 42-Year-Old Woman with Mysterious Monocytic Meningitis
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Chronic Meningitis
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A 49-Year-OLD Woman with Progressive Numbness and Gait Instability
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Spontaneous Intracranial Hypotension
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