Cervical Dystonia:Clinical Findings and Associated Movement Disorders
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Brain Tumors
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Clinical & Laboratory Findings in the Oculocerebrorenal Syndrome of Lowe, with Special Ref to Growth & Renal Function
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Fucosidosis Revisited:A Review of 77 Patients
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The Dystonias
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Improved Molecular-Genetic Diagnosis of Leber's Hereditary Optic Neuropathy
NEJM 323:1488-1489, Johns,D.R., 1990
Molecular Genetics of Duchenne and Becker Muscular Dystrophy
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Acute Intermittent Porphyria
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Dopa-Responsive Dystonia:The Spectrum of Clinical Manifestations in a Large North American Family
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Treatment of Late Infantile Metachromatic Leukodystrophy by Bone Marrow Transplantation
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Neurofibromatosis Type I in Children
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Narcolspey
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Tourette's Syndrome:Current Concepts
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A Mitochondrial DNA Mutation as a Cause of Leber's Hereditary Optic Neuropathy
NEJM 320:1300-1305, Singh,G.,et al, 1989
Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
Medicine 68:1-29, Lamiell,J.M.,et al, 1989
Mitochondrial DNA and Genetic Disease
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Ethanol and the Nervous System
NEJM 321:442-454, Charness,M.E.,et al, 1989
Hereditary Long Q-T Syndrome Presenting as Epilepsy:Electroencephalography Laboratory Diagnosis
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Dopa Responsive Dystonia:A Treatable Condition Misdiagnosed as Cerebral Palsy
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Paroxysmal Cerebellar Ataxia
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McArdle's Disease:Biochemical and Molecular Genetic Studies
Ann Neurol 24:774-781, Servidei,S.,et al, 1988
The Molecular Genetic Revolution, Its Impact on Clinical Neurology
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Rett Syndrome:Natural History and Management
Pediatrics 82:1-10, Moeschler,J.B.,et al, 1988
Neurofibromatosis 2 (Bilateral Acoustic Neuro-fibromatosis)
NEJM 318:684-688, Martuza,R.L.&Eldridge,R., 1988
Neurofibromatosis
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Retinitis Pigmentosa
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False Negative Results in Patients with fra (X) (q) Mental Retardation Taking Oral Vitamin Supplements
NEJM 316:1093, Froster-Iskenius,U.,et al, 1987
Essential Tremor:A Review
Neurol 37:1194-1197, Findley,L.J.&Koller,W.C., 1987
Clinical Spectrum of Hereditary Hemorrhagic Telangiectasia (Osler-Wever-Rendu Disease)
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Cervicomedullary Compression in Young Patients with Achondroplasia:Value of Neurologic & Respiratory Eval
J Pediatr 110:522-530, Reid,C.S.,et al, 1987
Adrenoleukodystrophy:Dietary Oleic Acid Lowers Hexacosanoate Levels
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A New Dietary Therapy for Adrenoleukodystrophy:Biochemical & Preliminary Clinical Results in 36 Patients
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Benign Sexual Headach within a Family
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Ornithine Transcarbamylase Deficiency-A Cause of Bizarre Behavior in a Man
NEJM 315:744-747, DiMagno,E.P.,et al, 1986
Alzheimer's Disease
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Bone-Marrow Transplantation for Neurovisceral Storage Disorders
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Phosphorylase Deficiency
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Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
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Clinical Findings in Four Children with Biotinidase Deficiency Detected Through a Statewide Neonatal Screening Program
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Gilles de la Tourette's Syndrome, A Review of Clinical, Research & Future Directions for Investigation
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Wilson's Disease
BMJ 288:1180-1181, Parkes,D., 1984
Clinicopathological Conference
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Ataxia-Telangiectasia:A Multisystem Hereditary Disease with Immunodeficiency
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Sclerosteosis:Neurogenetic & Pathophysiologic Analysis of an American Kinship
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Familial Porencephaly
Arch Neurol 40:567-569, Berg,R.A.,et al, 1983
Familial Paroxysmal Dystonic Choreoathetosis & Response to Alternate-Day Oxazepam Therapy
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Adrenoleukodystrophy. Report of Two Cases With Relapsing & Remitting Courses
Arch Neurol 37:448-450, Walsh,R., 1980
Amelioration Of Neurologic Abnormalities After"Enzyme Replacement"In Adenosine Deaminase Deficiency
NEJM 303:377-380, Hirschhorn,R.,et al, 1980
Successful Treatment of Paramyotonia Congenita (Eulenburg) Muscle Stiffness & Weakness Prevented by Tocainide
JNNP 43:268-271, Ricker,K.,et al, 1980
Abetalipoproteinemia, Report of Two Cases & Review of Therapy
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