Parry Romberg Syndrome: 7 Cases and Literature Review
AJNR 36:1355-1361, Wong, M.,et al, 2015
Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026
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
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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
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
The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022
Hopkins Syndrome
Neurol 94:e996-e997, Sgobbi de Souza, P. V.,et al, 2020
A 22-Year-Old Man with Progressive Bilateral Visual Loss
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Complex Ataxia
Neurol 95:136-141, Abkur, T.,et al, 2020
A Young Generalized Dystonia Patient with Globus-Pallidus-Specific Lesion
Ann Neurol 88:637-638, Wu, H.,et al, 2020
Nusinersen Versus Sham Control in Later-Onset Spinal Muscular Atrophy
NEJM 378:625-635, Mercuri, E.,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
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
Acute Flaccid Myelitis; A Clinical Review of US Cases 2012-2015
Ann Neurol 80:326-338, Messacar, K.,et al, 2016
MRI Characteristics of Globus Pallidus Infarcts in Isolated Methylmalonic Acidemia
AJNR 36:194-201, Baker, E.H.,et al, 2015
Acute Flaccid Myelitis of Unknown Etiology in California 2012-2015
JAMA 314:2663-2671, Van Haren, K.,et al, 2015
Clinicopathologic Conference, Chronic Meningoencephalitis Consistent with Rasmussens Encephalitis
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Degenerative Diseases of the Nervous System, Werdnig-Hoffman Disease, Spinal Muscular Atrophy
Adams & Victors Principles of Neurology, Chp 39, pg 1116, Ropper, A.H.,et al, 2014
Degenerative Diseases of the Nervous System, Kugelberg-Welander Syndrome SMAIII
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The Limbic-Girdle Muscular Dystrophies
Neuro Clin 32:729-749, Wicklund, M.P. and Kissel, J.T., 2014
A Young Man with Progressive Subcortical Lesions and Optic Nerve Atrophy
Neurol 79:e63, Komatsuzaki, S.,et al, 2012
MRI in Methylmalonic Acidemia
Neurol 74:e14, Bindu, P.S.,et al, 2010
Clinical and Neuroimaging Findings of Cree Leukodystrophy: A Retrospective Case Series
AJNR 31: 1418-1423, Harder,S.,et al, 2010
The Floppy Infant: Evaluation of Hypotonia
Pediatrics in Review 30:e66-e76, Peredo, D. & Hannibal M., 2009
A 23-Year-Old Man With Seizures and Visual Deficit
Neurol 70:73-78, Boustany,R.-M.,et al, 2008
Spinal Muscular Atrophy
Lancet 371:2120-2133, Lunn,M.R. &Wang,C.H., 2008
Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
Lancet Neurol 4:239-248, Shahwan, A., et al, 2005
Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003
Lesions of the Corpus Callosum: MR Imaging and Differential Considerations in Adults and Children
AJR 179:251-257, Bourekas,E.C.,et al, 2002
Subacute Sclerosing Panencephalitis
Postgrad Med J 78:63-70, Garg, R.K.,et al, 2002
Clinical and Genetic Aspects of Distal Myopathies
Muscle Nerve 24:1440-1450, Saperstein,D.S.,et al, 2001
Gliomas of the Anterior Visual Pathway
Surv Ophthalmol 38:427-452, Dutton, J., 1994
Acquired Ocular Visual Impairment in Children, 1960-1989
Am J Dis Child 147:325-328, Robinson,G.C.&Jan,J.E., 1993
MR Imaging of the Spinal Cord in 23 Subjects with ALD-AMN Complex
AJR 158:413-416, Snyder,R.D.,et al, 1992
Clinical Uses of Intravenous Immunoglobulins
Ann Int Med 112:278-292, Berkman,S.A.,et al, 1990
Magnetic Resonance Imaging in Pathologically Proven Hallervorden-Spatz Disease
Neurol 39:440-442, Schaffert,D.A.,et al, 1989
Mineralization of the Basal Ganglia Detected by CT in Hallervorden-Spatz Syndrome
Neurol 38:154-155, Tennison,M.B.,et al, 1988
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
Bobble-Head Doll Syndrome in a Child
Neurol 104: e213694, Chityala,A.,et al, 2025
A 5-Year-Old Boy with Subacute and Refractory Myoclonus
Neurol 106:e214457, Park,P.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
Clinical Features, Diagnosis and Management of Klinefelter Syndrome
www.UptoDaate.com, Matsumoto,A.M. & Anawals,B.D., 2024
Reversible Cerebral Atrophy and Substantia Nigra Changes after Vitamin B12 Treatment in Infantile Tremor Syndrome
Neurol 103:e210076, Singh,R.,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