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The Tuberous Sclerosis Complex
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New Research in Tuberous Sclerosis, Probably More Common with More Adult Complications
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Focusing on the Eye Signs of Alport Syndrome in a 40-Year-Old Man Who Previously Had a Kidney Transplant and Hearing Loss
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Bilateral Hearing Loss and Constricted Visual Fields
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An Unusual Fundus Finding in a Teenage Girl
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A 10-year-old boy with Bilateral Vision Loss
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A 44-Year-Old Man with Eye, Kidney, and Brain Dysfunction
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von Hippel-Lindau Disease
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Atypical Leber's Hereditary Optic Neuropathy with Molecular Confiramtion
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Leber's Hereditary Optic Neuropathy, New Genetic Considerations
Arch Neurol 50:540-548, Newman,N.J., 1993
VonHippel-Lindau Disease
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Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
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Retinitis Pigmentosa
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Pseudoxanthoma Elasticum:A Review of Neurological Complications
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Clinical & Extraneural Histologic Diagnosis of Neuronal Ceroidlipofuscinosis
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Juvenile Diabetes Mellitus & Optic Atrophy
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A 6-Year-Old Girl with Progressive Toe Walking
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A 22-Year-Old Man with Progressive Bilateral Visual Loss
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Clinicopathologic Conference,Aceruloplasminemia, Hereditary
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Neurological Management of Von Hippel-Lindau Disease
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Red Papules on the Tongue of a Patient with Hemiparesis
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Inherited Metabolic Diseases of the Nervous System, Infantile Niemann-Pick Disease
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Chediak-Higashi Syndrome: Pathognomonic Feature
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Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
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Clinicopath Conf, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
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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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Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
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Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Mucolipidosis Type IV; Characteristic MRI Findings
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Acquired Ocular Visual Impairment in Children, 1960-1989
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The Neurologic Syndrome of Vitamin E Deficiency:A Significant Cause of Ataxia
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MR Imaging of the Spinal Cord in 23 Subjects with ALD-AMN Complex
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Cockayne Syndrome: Review of 140 Cases
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A Familial Syndrome of Dystonia, Blepharospasm, and Pigmentary Retinopathy
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Epilepsy Octet, Epidemiology, Classification, Natural History, and Genetics of Epilepsy
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Mitochondrial Myopathies:Clinical & Biochem Features of 30 Patients with Major Deletions of Muscle Mitochondrial DNA
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Neurofibromatosis 2 (Bilateral Acoustic Neuro-fibromatosis)
NEJM 318:684-688, Martuza,R.L.&Eldridge,R., 1988
Amaurotic Family Idiocy
Am J Dis Child 142:53-56, Abt,I.A., 1988
Clinical Spectrum of Hereditary Hemorrhagic Telangiectasia (Osler-Wever-Rendu Disease)
Am J Med 82:989-997, Perry,W.H., 1987
Adult-Onset Spinocerebellar Syndrome with Idiopathic Vitamin E Deficiency
Ann Neurol 22:84-87, Yokota,T.,et al, 1987
MELAS Syndrome Involving a Mother & Two Children
Arch Neurol 44:971-973, Driscoll,P.F.,et al, 1987
Progressive Myoclonus Epilepsies:Specific Causes & Diagnosis
NEJM 315:296-305, Berkovic,S.F.,et al, 1986
Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
Ann Neurol 18:614-617, Wolf,B.,et al, 1985
GM1 Gangliosidosis:Clinical and Laboratory Findings in Eight Families
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Chronic Progressive External Ophthalmoplegia (CPEO) :Clinical, Morphologic, & Biochemical Studies
Neurol 33:452-461, Mitsumoto,H.,et al, 1983
Abetalipoproteinemia, Report of Two Cases & Review of Therapy
Arch Neurol 37:659-662, Illingworth,D.R.,et al, 1980
Peripheral Neuropathy in the Cherry-Red Spot-Myoclonus Syndrome (Sialidosis Type I)
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