Cerebrotendinous Xanthomatosis:Molecular Diagnosis Enables Presymptomatic Detection of a Treatable Disease
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Cerebromeningeal Haemophagocytic Lymphohistiocytosis
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Mucolipidosis Type IV; Characteristic MRI Findings
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Clinical Approach to Inherited Peroxisomal Disorders: A Series of 27 Patients
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Cockayne Syndrome: Review of 140 Cases
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Neurologic Manifestations of AIDS
Medicine 66:407-437, McArthur,J.C., 1987
Carbonic Anhydrase II Deficiency in 12 Families with Osteopetrosis with Renal Tubular Acidosis & Cerebral Calcification
NEJM 313:139-181, Sly,W.S.,et al, 1985
Encephalomyelopathy of Leigh
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A 72-year-old Man with a Progressive Cognitive and Cerebellar Syndrome
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Clinical and Neuroimaging Features in Gorlin-Goltz Syndrome
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Huntington Disease: Clinical Features and Diagnosis
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Non-Alzheimers Dementia 1 Frontotemporal Dementia
Lancet 386:1672-1682, Bang, Jee.,et al, 2015
Molybdenum Cofactor Deficiency
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A 14-Year-Boy with Spells of Somnolence and Cognitive Changes
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Inherited Metabolic Diseases of the Nervous System, Galactosemia
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Sturge-Weber Syndrome
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Aicardi-Gouti�res Syndrome
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Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
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Autoantibodies to Folate Receptors in the Cerebral Folate Deficiency Syndrome
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Natural History of Nonketotic Hyperglycinemia in 65 Patients
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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Cognitive and Brain Magnetic Resonance Imaging Findings in Adrenomyeloneuropathy
Ann Neurol 40:675-678, Edwin,D.,et al, 1996
A Novel Mutation in Exon 3 of the Proteolipid Protein Gene in Pelizaeus-Merzabacher Disease
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The Peroxisome:Nervous System Role of a Previously Underrated Organelle, The 1987 Robert Wartenberg Lecture
Neurol 38:1617-1627, Moser,H.W., 1988
Incontinentia Pigmenti:Association with Anterior Horn Cell Degeneration
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Human Cytomegalovirus Infection & Disorders of the Nervous System
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The Cerebrohepatorenal (Zellweger) Syndrome
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Ataxia with Aniridia of Gillespie:A Case Report
Neurol 31:95-97, Lechtenberg,R.,et al, 1981
Alternating Hemiplegia in Infants:Report of Five Cases
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CT Scans in Menkes Disease
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Chronic Hexosaminidase A & B Deficiency
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Globoid cells, Glial nodules, & Peculiar Fibrillary Changes in the cerebro-hepato-renal Syndrome of Zellweger
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Herpes Simplex & the Human Nervous System
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Hepatic Encephalopathy:Current Status
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