Hopkins Syndrome
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Complex Ataxia
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Acute Flaccid Myelitis; A Clinical Review of US Cases 2012-2015
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Acute Flaccid Myelitis of Unknown Etiology in California 2012-2015
JAMA 314:2663-2671, Van Haren, K.,et al, 2015
Degenerative Diseases of the Nervous System, Kugelberg-Welander Syndrome SMAIII
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Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
Autoantibodies to Folate Receptors in the Cerebral Folate Deficiency Syndrome
NEJM 352:1985-1991, Ramaekers,V.T.,et al, 2005
Clinical and Genetic Aspects of Distal Myopathies
Muscle Nerve 24:1440-1450, Saperstein,D.S.,et al, 2001
MR Imaging of the Spinal Cord in 23 Subjects with ALD-AMN Complex
AJR 158:413-416, Snyder,R.D.,et al, 1992
Pediatric Acquired Immunodefieiency Syndrome
Am J Dis Child 142:29-35, Belman,A.L.,et al, 1988
Neurological Complications in Infants & Children with Acquired Immune Deficiency Syndrome
Ann Neurol 18:560-566, Belman,A.L.,et al, 1985
Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026
Bobble-Head Doll Syndrome in a Child
Neurol 104: e213694, Chityala,A.,et al, 2025
A 10-Year-Old Boy with Progressive Tremor, Insomnia and Autonomic Dysfunction
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A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
Neurol 102:e209358, Barbosa,A.R.,et al, 2024
Clinicopathologic Conference, Nutritional Optic Neuropathy Due to Multiple Nutritional Deficits, Including Vitamin A, Copper, and Zinc Deficiencies
NEJM 391:641-650, Gaier,E.D.,et al, 2024
Clinical Features, Diagnosis and Management of Klinefelter Syndrome
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Reversible Cerebral Atrophy and Substantia Nigra Changes after Vitamin B12 Treatment in Infantile Tremor Syndrome
Neurol 103:e210076, Singh,R.,et al, 2024
A 17-Year-Old Girl with Progressive Cognitive Impairment
Neurol 101:e1466-e1472, Zhao,B.,et al, 2023
Spectrum of Neuroradiologic Findings Associated with Monogenic Interferonopathies
AJNR 43:2-10, Benjamin, P.,et al, 2022
Extracranial Etiology of Acute Onset Ataxia and Weakness
Neurol 99:898-899, Nordli,D.,et al, 2022
The Phenotypic Continuum of ATP1A3-Related Disorders
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A 6-Year-Old Boy with Muscle Twitching
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A Teenager with Shortness of Breath and Difficulty Walking
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A 7-Year-Old Boy with Acute-Onset Altered Mental Status
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Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
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Rapidly Progressive Gait Disorder and Cranial Nerves Involvement in a 9-year-old boy
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A 22-Year-Old Man with Progressive Bilateral Visual Loss
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A 10-Year-Old Girl with Muscle Stiffness
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A Young Generalized Dystonia Patient with Globus-Pallidus-Specific Lesion
Ann Neurol 88:637-638, Wu, H.,et al, 2020
Analysis of 70 patients with hydrocephalus due to cobalamin C deficiency
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Clinicopathologic conference, Vitamin D deficiency
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Bobblehead-Doll Syndrome
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Strokelike Episodes in a Patient with Chronic Gait Abnormalities
JAMA Neurol 76:621-622, Santoro, J.D. & Chitnis, T., 2019
Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
AJNR 40:903-907, Hartin, I.,et al, 2019
Characteristic Head Jerks in Congenital Oculomotor Apraxia due to Joubert Syndrome
Neurol 93:e1125-e1126, Borngraber, F.,et al, 2019
Acute Paraplegia in a Healthy Child
BMJ 367:L6257, Haque, A.K.M.,et al, 2019
Nusinersen Versus Sham Control in Later-Onset Spinal Muscular Atrophy
NEJM 378:625-635, Mercuri, E.,et al, 2018
Clinical Reasoning: A Teenager with Left Arm Weakness
Neurol 90:e907-e910, Al-Ghamdi, F.,et al, 2018
Transient swelling in the globus pallidus and substantia nigra in childhood suggests SENDA/BPAN
Neurol 90:974-976, Ishiyama, A.,et al, 2018
An Unusual Fundus Finding in a Teenage Girl
JAMA Neurol 75:1566-1567, Filho, F.M.R.,et al, 2018
FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
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Wilson Disease
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Early-Onset Head Titubation in a Child with Poretti-Boltshauser Syndrome
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A 10-year-old boy with Bilateral Vision Loss
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Histopathological Findings in Brain Tissue Obtained during Epilepsy Surgery
NEJM 377:1648-1656, Blumcke, I.,et al, 2017
Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy
NEJM 377:1713-1722,1786, Mendell, J.R.,et al, 2017
Nusinersen Versus Sham Control in Infantile-Onset Spinal Muscular Atrophy
NEJM 377:1723-1732,1786, Finkel, R.S.,et al, 2017
An 11-year-old Boy with Language Disorder and Epilepsy
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