Neurodegeneration with Brain Iron Accumulation
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Pyruvate Dehydrogenase Deficiency (PDCD)
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Inherited Metabolic Diseases of the Nervous System, The Phenylketonuria
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Development of a Suspicion Index to Aid Diagnosis of Niemann-Pick Disease Type C
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GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
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Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
NEJM 347:672-680, Case 27-2002, 2002
Joubert Syndrome:A Clinico-Radiological Study
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Human Cerebellar Hypoplasia, A Syndrome of Diverse Causes
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Congenital Ocular Motor Apraxia
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A 19-Month Old Girl with Infantile-Onset Myopathy and White Matter Changes
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A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
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Spinal Muscular Atrophy
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A 13-year-old boy with Chronic Ataxia and Developmental Delay
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Clinicopathologic Conference, Tay-Sacks Disease (GM2, Gangliosidosis)
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MRI in Methylmalonic Acidemia
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Prader-Willi and Angelman Syndromes
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An Early Marker for Neurological Deficits after Perinatal Brain Lesions
Lancet 349:1361-1363, Prechtl,H.F.R.,et al, 1997
Congenital Muscular Dystrophy:Clinical & Pathologic Study of 50 Pts with Classical (Occidental) Merosin-Positive Form
Neurol 46:815-818, Kobayashi,O.,et al, 1996
The Synd of Autosomal Recessive Pontocerbellar Hypoplasia, Microcephaly, & Extrapyr Dyskinesia (Pontocereb Hypopl Type 2)
Neurol 45:311-317, Barth,P.G.,et al, 1995
Congenital Bilateral Perisylvian Syndrome:Study of 31 Patients
Lancet 341:608-612, Kuzniecky,R.,et al, 1993
A 10-Year Experience with Postpump Chorea
Ann Neurol 34:820-826, Medlock,M.D.,et al, 1993
A Synd of Autosomal Dominant Alternating Hemiplegia:Mimicking Intractable Epilepsy; Chromosomal Studies; Physiol Investig
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Angelman Syndrome: Clinical Profile
J Child Neurol 7:270-280, Zori,R.T.,et al, 1992
Congenital AIDS:Review of Neurological Problems
Child's Nerv Syst 5:9-11, Curles,R.G., 1989
Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
Ann Neurol 18:614-617, Wolf,B.,et al, 1985
Biotin-Responsive Carboxylase Deficiency Associated With Subnormal Plasma & Urinary Biotin
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Amelioration Of Neurologic Abnormalities After"Enzyme Replacement"In Adenosine Deaminase Deficiency
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