Pantothenate Kinase - Associated Neurodegeneration (PKAN)
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The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
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A 23-Year-Old Man With Seizures and Visual Deficit
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Acquired Ocular Visual Impairment in Children, 1960-1989
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Early-Onset Head Titubation in a Child with Poretti-Boltshauser Syndrome
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Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
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Mucolipidosis Type IV; Characteristic MRI Findings
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Facioscapulohumeral Muscular Dystrophy in Early Childhood
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A 19-Month Old Girl with Infantile-Onset Myopathy and White Matter Changes
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Imaging Patterns Characterizing Mitochondrial Leukodystrophies
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Acute Myopia and Angle Closure Glaucoma from Topiramate in a Seven-Year-Old: A Case Report and Review of the Literature
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Inherited Metabolic Diseases of the Nervous System, Neuroaxonal Dystrophy
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The Limbic-Girdle Muscular Dystrophies
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Transition to Adult Care for Children with Chronic Neurological Disorders
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The Floppy Infant: Evaluation of Hypotonia
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Diagnosis and Etiology of Congenital Muscular Dystrophy
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Tuberous Sclerosis
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Diagnostic Evaluation of Clinically Normal Subjects with Chronic hyperCKemia
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The Tuberous Sclerosis Complex
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Mitochondrial DNA Polymerase-y and Human Disease
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006
Neurological and Neuromuscular Disease as a Risk Factor for Respiratory Failure in Children Hospitalized With Influenza Infection
JAMA 294:2188-2194, Keren,R.,et al, 2005
Diffusion-Weighted and Conventional MR Imaging Findings of Neuroaxonal Dystrophy
AJNR 25:1269-1273, Sener,R.N., 2004
Hereditary Infantile Hemiparesis, Retinal Arteriolar Tortuosity, and Leukoencephalopathy
Neurol 60:57-63,8, Vahedi,K.,et al, 2003
Early Visual Function Impairment in CADASIL
Neurol 60:2008-2010, Parisi,V.,et al, 2003
Clinical and Genetic Aspects of Distal Myopathies
Muscle Nerve 24:1440-1450, Saperstein,D.S.,et al, 2001
Childhood Head Injuries, Accidental or Inflicted?
Arch Pediatr Adolesc Med 154:11-15, Reece,R.M.&Sege,R., 2000
Infantile Neuroaxonal Dystrophy,Clinical Spectrum and Diagnostic Criteria
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Subdural Haemorrhages in Infants:Population Based Study
BMJ 317:1558-1561,1538, Jayawant,S.,et al, 1998
Congenital Muscular Dystrophy with Primary Laminin a2 (Merosin) Deficiency Presenting as Inflammatory Myopathy
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Head Injury in Very Young Children:Mech, Injury & Ophthal Findings in 100 Hosp Pts
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Incidence of Impact Trauma with Cranial Injuries Ascribed to Shaking
Am J Dis Child 144:724-726, Alexander,R.,et al, 1990
Mineralization of the Basal Ganglia Detected by CT in Hallervorden-Spatz Syndrome
Neurol 38:154-155, Tennison,M.B.,et al, 1988
The Spectrum of Mild X-Linked Recessive Muscular Dystrophy
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Visual Symptoms in the Migraine Syndrome
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Basilar Artery Migraine
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