Reversible Cortical and Basal Ganglia Lesions in Late-Onset Methylmalonic Aciduria
JAMA Neurol 81:1-82, Chu,X.C.,et al, 2024
A 25-year-old Woman with Recurrent Episodes of Collapse and Loss of Consciousness
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
Pantothenate Kinase - Associated Neurodegeneration (PKAN)
Emedicine.Medscape Sept, Hanna, P.A. & Benbadis, S.R., 2018
FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
Mol Genet Metab 125:281-291, Almannai, M.,et al, 2018
Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
NEJM 377:2376-2385, Case 38-2017, 2017
Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017
Neuroimaging and Clinical Features in Type II (late-onset) Alexander Disease
Neurol 82:49-56, Graff-Radford, J.,et al, 2014
Cerebral Palsy
Lancet 383:1240-1248, Colver, A.,et al, 2014
Clinicopathologic Conference, Tay-Sacks Disease (GM2, Gangliosidosis)
NEJM 370:1830-1841, Case 14-2014, 2014
A Case of Early-Onset Rapidly Progressive Dementia
JAMA Neurol 71:1445-1449, Cachia, D.,et al, 2014
Clinicopath Conf, Infantile Krabbe Disease
NEJM 362:346-356, Case 3-2010, 2010
The Expanding Phenotype of GLUT1-Deficiency Syndrome
Brain & Dev 31:545-552, Brockmann,K., 2009
Intrathecal Baclofen Withdrawal Mimicking Sepsis
J Emerg Med 24:423-427, Kao,L.W.,e tal, 2003
X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
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Adverse Outcomes of Bacterial meningitis in School-Age Survivors
Pediatrics 95:646-655, Grimwood,K.,et al, 1995
Neurological Involvement in Wegener's Granulomatosis:An Analysis of 324 Consecutive Pts at the Mayo Clin
Neurol 33:4-9, Nishino,H.,et al, 1993
Arginase Deficiency Presenting as Cerebral Palsy
Pediatrics 91:995-996, Scheuerle,A.E.,et al, 1993
Recurrent Encephalopathy and Seizures in a US Native with HTLV-I-Associated Myelopathy/Tropical Spastic Paraparesis
Neurol 42:658-661, Smith,C.R.,et al, 1992
Clinicopath Conf
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Hallervorden-Spatz Syndrome and Brain Iron Metabolism
Arch Neurol 48:1285-1293, Swaiman,K.F., 1991
Progressive Rubella Panencephalitis
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Sulfite Oxidase Deficiency:Clinical, Neuroradiologic, and Biochemical Features in Two New Patients
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Incontinentia Pigmenti:Association with Anterior Horn Cell Degeneration
Neurol 37:446-450, Larsen,R.,et al, 1987
A Progressive Syndrome of Autism, Dementia, Ataxia, & Loss of Purposeful Hand Use in Girls:Rett's Syndrome
Ann Neurol 14:471-491, Hagberg,B., 1983
Use of Adrenal Biopsy in Diagnosing Adreno-leukomyeloneuropathy
Arch Neurol 37:634-636, Weiss,G.M.,et al, 1980
Familial Subacute Necrotizing Encephalomyelopathy of the Adult Form (Adult Leigh Syndrome)
Ann Neurol 6:200-206, Kalimo,H.,et al, 1979
CNS Lesions in Cystinuria
Arch Neurol 34:638, Blackburn,C.R.B.,et al, 1977
Progressive Spastic Paraparesis & Adrenal Insufficiency
Arch Neurol 33:678, Gumbinas,M.,et al, 1976
The Thyroid Gland:Its Relationship to Neurology
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Neurocutaneous Disease
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