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Pediatr Neurol 34:253-263, Korff,C.M. &Nordii,D.R.,Jr., 2006
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Brain 129:1674-1684, Horvath, R.,et al, 2006
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NEJM 333:918-924, Guttmacher,A.E.,et al, 1995
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In Myology, McGraw-Hill, 2nd Ed, Ch49, p1291-13024., Rudel,R.,et al, 1994
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NEJM 289:407, Sroufe,L.A.,et al, 1973
Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
Neurol 103:e209844, Dhawan,A.,et al, 2024
Genome Sequencing in the NICU and PICU is Here to Stay
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Neurol 100:766-783, Manini,A.,&Pantoni,L., 2023
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Neurol 101:e1884-e1892, van der Veen,S.,et al, 2023
Multiple Cranial Nerve Gadolinium Enhancement in Norrie Disease
Ann Neurol 91:158-159, Jokela, M.,et al, 2022
Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
NEJM 386;674-687, Case 5-2022, 2022
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JAMA Neurol 79:405-413, Morton, S.U.,et al, 2022
Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
Clinical and Genetic Features in Patients with Reflex Bathing Epilepsy
Neurol 97:e577-e586, Accogli, A.,et al, 2021
A 45-Year-Old Man with Progressive Insomia and Psychiatric and Motor Symptoms
Neurol 94:e1213-e1218, Lima, J.E.E.,et al, 2020
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Neurol 94:994-999, Wildman, J.,et al, 2020
Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
AJNR 40:903-907, Hartin, I.,et al, 2019
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Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019
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Neurol Sci 40:2251-2263, Donzuso,G.,et al, 2019
Intractable Epilepsy and Progressive Cognitive Decline in a Young Man
JAMA Neurol 74:737-740, Cohen, A.L.,et al, 2017
Neuroimaging Changes in Menkes Disease, Part 1
AJNR 38:1850-1857, Manara, R.,et al, 2017
A Case of Ataxia, Seizure, and Choreoathetosis in a 34-year-old Woman
Neurol 89:e220-e223, Xiao, F. & Wang, X.F., 2017
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NEJM 377:2376-2385, Case 38-2017, 2017
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Choreoathetosis, Dystonia, and Myoclonus in 3 Siblings with Autosomal Recessive Spinocerebellar Ataxia Type 16
JAMA Neurol 73:888-890, Kawarai, T.,et al, 2016
Neurological Management of Von Hippel-Lindau Disease
Neurologist 21:73-78, Hodgson, T.S.,et al, 2016
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Ann Neurol 77:1-7, Scripko, P.,et al, 2015
A Case of Refractory Nocturnal Seizures
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Molybdenum Cofactor Deficiency
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Somatic Mutations in Cerebral Cortical Malformations
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Adams & Victors Principles of Neurology, Chp 37, pg 958, Ropper, A.H.,et al, 2014
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Clinical Manifestations and Diagnosis of Bicuspid Aortic Valve in Adults
UpToDate Nov, Braverman, D.C., 2014
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Brain Arteriovenous Malformation Multiplicity Predicts the Diagnosis of Hereditary Hemorrhagic Telangiectasia Quantitive Assessment
Stroke 43:72-78, Bharatha, A.,et al, 2012