Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003
Niemann-Pick Disease Type C
Gene Reviews www.genereview.org, Bremova-Ertl,T. & Patterson, M., 2025
Rapidly Progressive Thalamic Dementia
Neurol 96:e809-e813, Rizzo, A.C.,et al, 2021
A 72-year-old Man with a Progressive Cognitive and Cerebellar Syndrome
Neurol 95:e2707-e2710, Lad, M. & Griffiths, T.D., 2020
Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018
Disturbances of Cerebrospinal Fluid, Including Hydrocephalus, Pseudotumor Cerebri, and Low-Pressure Syndromes, Normal Pressure Hydrocephalus
Adams & Victors Principles of Neurology, Chp 30, pg 624, Ropper, A.H.,et al, 2014
Inherited Metabolic Diseases of the Nervous System, Subacute Necrotizing Encephalopathy (Leigh Disease)
Adams & Victors Principles of Neurology, Chp 37, pg 996, Ropper, A.H.,et al, 2014
Cognitive Delay in a 7-year-old Girl
Neurol 81: e148-e150, Cachia, D. & Stine, C., 2013
Clinicopathologic Conference, Susacs Syndrome (retinocochleocerebral vasculopathy)
NEJM 365:549-559, Case 24-2011, 2011
3-Methylglutaconic Aciduria Type I Redefined: A Syndrome With Late-Onset Leukoencephalopathy
Neurol 75:1079-1083, Wortmann,S.B.,et al, 2010
The Thalamus and Behavior. Effects of Anatomically Distinct Strokes
Neurol 66:1817-1823, Carrera,E. &Bogousslavsky,., 2006
Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
Epilepsy Res 70S:S223-S230, Fujiwara,T., 2006
Autoantibodies to Folate Receptors in the Cerebral Folate Deficiency Syndrome
NEJM 352:1985-1991, Ramaekers,V.T.,et al, 2005
Intracranial Haemorrhages in French Haemophilia Patients (1991-2001): Clinical Presentation, Management and Prognosis Factors for Death
Haemophilia 11:452-458, Stieltjes,N.,et al, 2005
Rapidly Reversible Dementia
Lancet 361:392, Bernstein,R.,et al, 2003
The Acute Behavioral Syndrome of Anterior Thalamic Infarction: A Prospective Study of 12 Cases
Ann Neurol 48:220-227, Chika-Schmid,F. & Bogousslavsky,J., 2000
Bilteral Caudate Infarct--A Case Report
Ann Acad Med Singapore 28:569-571, Lim,J.K.H., 1999
Methylphenidate in Early Poststroke Recovery:A Double-Blind, Placebo-Controlled Study
Arch Phys Med Rehabil 79:1047-1050, Grade,C.,et al, 1998
A Novel Mutation in Exon 3 of the Proteolipid Protein Gene in Pelizaeus-Merzabacher Disease
Neurol 45:394-395, Pratt,V.M.,et al, 1995
Apathy Following Cerebrovascular Lesions
Stroke 24:1625-1630, Starkstein,S.E.,et al, 1993
Cerebromeningeal Haemophagocytic Lymphohistiocytosis
Lancet 239:104-107, Henter,J.&Elinder,G., 1992
Confusion & Memory Loss from Capsular Genu Infarction:A Thalamocortical Disconnection Syndrome?
Neurol 42:1966-1979, Tatemichi,T.K.,et al, 1992
Neurologic Manifestations of AIDS
Medicine 66:407-437, McArthur,J.C., 1987
Pure Psychic Akinesia with Bilateral Lesions of Basal Ganglia
JNNP 47:377-385, Laplane,D.,et al, 1984
Ataxia with Aniridia of Gillespie:A Case Report
Neurol 31:95-97, Lechtenberg,R.,et al, 1981
Progressive Infantile Poliodystrophy, Assoc. With Disturbed Pyruvate Oxidation in Muscle & Liver
Arch Neurol 38:767-772, Prick,M.J.J.,et al, 1981