A 10-Year-Old Boy with Progressive Tremor, Insomnia and Autonomic Dysfunction
Neurol 105:e214297, Chen,Z., et al, 2025
Niemann-Pick Type C Disease
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A Toddler with Acute-Onset Hypotonia, Areflexia, and Ataxia
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Abnormal and Persistent Mineralization of Globi Pallidi in GAMT Deficiency
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A 9-Year-Old Girl with CNS Immune Dysregulation
Neurol 105:e213999, Marefi,A.,et al, 2025
A 13-Year-Old Boy with Subacute-Onset Spastic Gait
JAMA Neurol 78:e1-e2, Xie, N.,et al, 2021
Determination of Brain Death
NEJM 385:2554-2561, Greer, D.M., 2021
Pediatric Leigh Syndrome
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A 13-year-old boy with Chronic Ataxia and Developmental Delay
Neurol 88:e116-e121, Libdeh, A.A.,et al, 2017
Neuroimaging Changes in Menkes Disease, Part 1
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Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
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Clinical Reasoning: Encephalopathy in a 10-year-old boy
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Diagnostic Exome, Sequencing in Persons with Severe Intellectual Disability
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Presentation, Diagnosis, Pathophysiology, and Treatment of the Neurological Features of Sturge-Weber Syndrome
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Pediatric Moyamoya Disease: An Analysis of 410 Consecutive Cases
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A 23-Year-Old Man With Seizures and Visual Deficit
Neurol 70:73-78, Boustany,R.-M.,et al, 2008
Spinal Muscular Atrophy
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Diagnosis and Etiology of Congenital Muscular Dystrophy
Neurol 71:312-321,308, Peat,R.A.,et al., 2008
Tuberous Sclerosis
Lancet 372:657-658, Curatolo,P.,et al., 2008
Prognosis of Children With Partial Epilepsy: MRI and Serial 18FDG-Pet
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Brain Glucose Supply and The Syndrome of Infantile Neuroglycopenia
Arch Neurol 64:507-513, Pascual,J.M.,et al, 2007
Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
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Episodic Neurologic Dysfunction with Migraine and Reversible Imaging Findings After RadiationRRH
Neurol 67:676-678, Pruitt,A.,et al, 2006
The Tuberous Sclerosis Complex
NEJM 355:1345-1356, Crino,P.B.,et al, 2006
Mitochondrial DNA Polymerase-y and Human Disease
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006
Clinical Features and Diagnosis of Primary Central Nervous System Lymphoma
Hematol Oncol Clin North Am 19:689-703, Fitzsimmons,A.,et al, 2005
Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
Lancet Neurol 4:239-248, Shahwan, A., et al, 2005
B- and T-cell Markers in Opsoclonus-Myoclonus Syndrome
Neurol 62:1526-1532,1466, Pranzatelli,M.R.,et al, 2004
Myostatin Mutation Associated with Gross Muscle Hypertrophy in a Child
NEJM 350:2682-2688,2642, Schuelke,M.,et al, 2004
Practice Parameter: Evaluation of the Child with Global Developmental Delay
Neurol 60:367-380, Shevell,M.,et al, 2003
Clinical and Genetic Aspects of Distal Myopathies
Muscle Nerve 24:1440-1450, Saperstein,D.S.,et al, 2001
What Level of Care for the Neurofibromatoses?
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Evaluation and Management of Intracranial Mass Lesions in AIDS
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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Anticoagulation Therapy in Pediatric Patients with Sinovenous Thrombosis,A Cohort Study
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Hereditary Hemorrhagic Telangiectasia
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Angelman Syndrome: Clinical Profile
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