Imaging Patterns Characterizing Mitochondrial Leukodystrophies
AJNR 42:1334-1340, Roosendaal, S.D.,et al, 2021
Rapidly Progressive Gait Disorder and Cranial Nerves Involvement in a 9-year-old boy
Neurol 94:e330-e334, Lipp, A.,et al, 2020
Mitochondrial DNA Polymerase-y and Human Disease
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006
Idiopathic Inflammatory Orbital Pseudotumor in Childhood
Ophthalmology 88:565-574, Mottow-Lippa,L., et al, 1981
Neonatal Ophthalmoplegia with Microfibers:A Reversible Myopathy
Neurol 27:974, Hanson,P.A.,et al, 1977
Proptosis and Double Vision in a Child
JAMA Neurol 75:1142-1143, Lu, A.J.,et al, 2018
A Child with Delayed Motor Milestones and Ptosis
Neurol 88:e158-e163, Ghosh, P.S., 2017
Incomplete Miller-Fisher Syndrome with Advanced Stage Burkitt Lymphoma
Indian Pediat 54:413-415, Ozdemir,Z.C.,et al, 2017
Development of a Suspicion Index to Aid Diagnosis of Niemann-Pick Disease Type C
Neurol 78:1560-1567,1546, Wijburg, F.A.,et al, 2012
Human Botulism Immune Globulin for the Treatment of Infant Botulism
NEJM 354:462-471, Arnon,S.S.,et al, 2006
Neurologic Features of Horizontal Gaze Palsy and Progressive Scoliosis with Mutations in ROBO3
Neurol 64:1196-1203, Bosley, T.M.,et al, 2005
Lesions of the Corpus Callosum: MR Imaging and Differential Considerations in Adults and Children
AJR 179:251-257, Bourekas,E.C.,et al, 2002
Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
NEJM 347:672-680, Case 27-2002, 2002
Pediatric Third, Fourth, and Sixth Nerve Palsies:A Population-Based Study
Am J Ophthalmol 127:388-392, Holmes,J.M.,et al, 1999
Paroxysmal Tonic Upgaze:a Reappraisal of Outcome
Ann Neurol 43:514-520, Hayman,M.,et al, 1998
Ophthalmoplegic Migraine:Reversible Enhancement and Thickening of the Cisternal Segment of the Oculomotor Nerve on Contrast-Enhanced MR Images
AJNR 19:1887-1891, Mark,A.S.,et al, 1998
Neuro-Ophthalmic Manifestations of Lyme Disease
J Neuro-Ophthalmol 17:108-121, Balcer,L.J.,et al, 1997
Niemann-Pick Disease Type C:Diagnosis and Outcome in Children, with Particular Reference to Liver disease
J Pediatr 123:242-247, Kelly,D.A.,et al, 1993
Ocular Defects in Children with Cerebral Palsy
BMJ 281:487-488, Black,P.D., 1980
Juvenile-Onset Dopa-Responsive Dystonia-Until It Isnt
Neurol 104:e213436, Paredes,N.C.,et al, 2025
Congenital Titinopathy:Comprehensive Characterization of the Most Severe End of the Disease Spectrum
Ann Neurol 97:611-628, Coppens,S.,et al, 2025
A 19-Month Old Girl with Infantile-Onset Myopathy and White Matter Changes
Neurol 102:e209258, Lail,G.,et al, 2024
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
Slowly Expanding Lesions Differentiate Pediatric Multiple Sclerosis from Myelin Oligodendrocyte Glycoprotein Antibody Disease
Ann Neurol 96:1086-1091, Fadda,G.,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
A 6-Year-Old Girl with Progressive Toe Walking
Neurol 98:e769-e773, Libdeh, A.A. & Ibrahim, A., 2022
Torticollis in a Child with Otalgia
BMJ 378:e070608, Sarathi, C.I.P.,et al, 2022
The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022
A 6-Year-Old Boy with Muscle Twitching
Neurol 96:e301-e304, Lewis, H.S.,et al, 2021
Acute Flaccid Myelitis: Cause, Diagnosis, and Management
Lancet 394:334-397, Murphy, O.C.,et al, 2021
Clinicopathologic Conference, Pheochromocytoma
NEJM 384:1145-1155, Case 9-2021, 2021
A Teenager with Shortness of Breath and Difficulty Walking
Neurol 96:e2346-e2350, Liu, S.C.,et al, 2021
Clinicopathologic Conference, Moyamoya Disease
NEJM 385:2563-2572, Case 40-2021, 2021
A 22-Year-Old Man with Progressive Bilateral Visual Loss
Neurol 94:625-630, Yang, S.L.,et al, 2020
Complex Ataxia
Neurol 95:136-141, Abkur, T.,et al, 2020
A 14-Year-Old Boy with Acute Weakness, Parethesias, and Headache
Neurol 95:e1285-e1289, Seese, R.R.,et al, 2020
A Young Generalized Dystonia Patient with Globus-Pallidus-Specific Lesion
Ann Neurol 88:637-638, Wu, H.,et al, 2020
An Adolescent Girl Presenting with Worsening Vertigo, Headache, and Ataxia
Neurol 95:e1760-e1763, Brigham, E.,et al, 2020
Fibromuscular Dysplasia and Its Neurologic Manifestations
JAMA Neurol 76:217-226, Touze, E.,et al, 2019
Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
AJNR 40:903-907, Hartin, I.,et al, 2019
Childhood Primary Angiitis of the Central Nervous System
www.UptoDate.com, Dec, Twilt, M. & Benseler, S., 2019
Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
Neurol 90:e625-e631, Set, K.K.,et al, 2018
Nusinersen Versus Sham Control in Later-Onset Spinal Muscular Atrophy
NEJM 378:625-635, Mercuri, E.,et al, 2018
A 12-year-old girl with headache and change in mental status
Neurol 90:524-529, Patel, P.,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
Treatable Bilateral Striatal Lesions Related to Anti-Dopamine 2 Receptor
Neurol 91:98-101, Marques-Matos, C.,et al, 2018
Pantothenate Kinase - Associated Neurodegeneration (PKAN)
Emedicine.Medscape Sept, Hanna, P.A. & Benbadis, S.R., 2018