A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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Clinicopath Conf, Infantile Krabbe Disease
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The Phenotypic Continuum of ATP1A3-Related Disorders
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Neurological Complications of Infantile Osteopetrosis
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A 19-Month Old Girl with Infantile-Onset Myopathy and White Matter Changes
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Spinal Muscular Atrophy
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Congenital Cytomegalovirus Infection
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Duchenne Muscular Dystrophy
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Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
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Neurodegeneration with Brain Iron Accumulation
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A Child with Arthrogryposis
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A 13-year-old boy with Chronic Ataxia and Developmental Delay
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A Child with Delayed Motor Milestones and Ptosis
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A Woman with Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems
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Inherited Metabolic Diseases of the Nervous System, Tay Sachs Disease
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GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
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MRI in Methylmalonic Acidemia
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Neonatal MRI to Predict Neurodevelopmental Outcomes in Preterm Infants
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Case 35-2006: A Newborn Boy with Hypotonia
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Aromatic L-Amino Acid Decarboxylase Deficiency
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Fetal Alcohol Syndrome and Alcohol-Related Neurodevelopmental Disorders
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Optic Nerve Enlargement in Krabbe's Disease
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Congenital Muscular Dystrophy:Clinical & Pathologic Study of 50 Pts with Classical (Occidental) Merosin-Positive Form
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Congenital Muscular Dystrophy Syndromes Distinguished by Alkaline and Acid Phosphatase, Merosin, & Dystrophin Staining
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The Relation of Transient Hypothyroxinemia in Preterm Infants to Neurologic Development at Two Years of Age
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Value of Cranial Untrasound and MRI in Predicting Neurodevelopmental Outcome in Preterm Infants
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Cognitive Development of Yu-Cheng ('Oil Disease') Children Prenatally Exposed to Heat-Degraded PCBs
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A Synd of Autosomal Dominant Alternating Hemiplegia:Mimicking Intractable Epilepsy; Chromosomal Studies; Physiol Investig
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Prospective Observations of 100 High-Risk Neonates by High-Field MRI of CNS:I. Intraventricular & Extracerebral Lesions
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Periventricular-Intraventricular Hemorrhage Sonographic Localization in Low Birth Weight Infants
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Congenital Muscular Dystrophy
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Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
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Recognising & Preventing Duchenne Muscular Dystrophy
BMJ 287:1083-1084, Firth,M.A.,et al, 1983
Diagnostic Delay in Duchenne's Muscular Dystrophy
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Maternal & Fetal Sequelae of Anticoagulation During Pregnancy
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Hazards of Oral Anticoagulants During Pregnancy
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Cockayne Syndrome:Unusual Neuropathological Findings & Review of the Literature
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