Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018
A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
NEJM 348:33-40, Hayflick,S.J.,et al, 2003
Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
Ann Neurol 39:343-351, Rahman,S.,et al, 1996
Dopamine, Dystonia, and the Deficient Co-Factor
Lancet 345:1130, Williams,A.C., 1995
Wilson Disease
Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992
Acute Profound Dystonia in Infants with Glutaric Acidemia
Pediatrics 83:228-234, Bergman,I.,et al, 1989
Phencyclidine:The New American Street Drug
Editorial, BMJ 281:1511-15121980., , 1980
Clinical and Structural Findings in Patients with Lesion-Induced Dystonia
Neurol 99:e1957-e1967, Corp, D.T.,et al, 2022
A 23-Year-Old Woman Presenting with Cognitive Impairment and Gait Disturbance
Neurol 99:997-1003, Chaity,D.K.,et al, 2022
Basa Ganglia Calcifications (Fahrs Syndrome): Related Conditions and Clinical Features
Neurol Sci 40:2251-2263, Donzuso,G.,et al, 2019
Facial Grimacing and Sensorineural Hearing Loss in a Woman with Cirrhosis of the Liver
Neurol 87:e239, Sgobbi de Souza, P.V.,et al, 2016
Inherited Metabolic Diseases of the Nervous System, The Phenylketonuria
Adams & Victors Principles of Neurology, Chp 37, pg 968, Ropper, A.H.,et al, 2014
Sjogren Syndrome: Neurologic Complications
www.Medlink.com,Jan, Roman,G.C., 2010
Anti-N-Methyl-D-Aspartate Receptor (NHMDAR) Encephalitis in Children and Adolescents
Ann Neurol 66:11-18,1, Florance,N.R.,et al, 2009
Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
Inborn Errors of Metabolism as a Cause of Neurological Disease in Adults: An Approach to Investigation
JNNP 69: 5-12, Gray,R.G.F. et al, 2000
Globus Pallidus Deep Brain Stimulation for Generalized Dystonia:Clinical and PET Investigation
Neurol 53:871-874, Kumar,R.,et al, 1999
Comparison of Striatal 18F-dopa Uptake in Adult-Onset Dystonia-Parkinsonism, Parkinson's & Dopa-Responsive Dystonia
Neurol 43:1563-1568, Turjanski,N.,et al, 1993
Clinicopath Conf
progressive Supranuclear Palsy, Case 46-1993, NEJM 329:1560-1567993., , 1993
Acute Toxic Reaction to Carbamazepine:Clinical Effects and Serum Concentrations
J Pediatr 121:295-299, Tibballs,J., 1992
The Neuroleptic Malignant Syndrome:Agent and Host Interaction
Acta Psychiatr Scand 73:337-347, Shaley,A.&Munitz,H., 1986
Clinicopathological Conference Metachromatic Leukodystrophy (juvenile type)
Case 7-1984, NEJM 310:445-4551984., , 1984
Pure Hemidystonia with Basal Ganglion Abnormalities on Positron Emission Tomography
Ann Neurol 15:228-233, Perlmutter,J.S.,et al, 1984
Severe Dystonia & Myoglobinuria
Neurol 32:1195-1197, Jankovic,J.,et al, 1982
Diagnosis of Treatable Wilson's Disease
NEJM 298:1347, Cartwright,G.E., 1978
Neuro CPC of MGH
Metachromatic Leukodystrophy, NEJM 267:1198-12041962., , 1962