Choreoathetosis and Focal Dystonia in Vitamin B12 Deficiency
Neurol 97:e1545, Ng, C.F.,et al, 2021
Reversible Chorea and Focal Dystonia in Vitamin B12 Deficiency
NEJM 347:295, Pacchetti,C.,et al, 2002
A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
Current and Emerging Issues in Wilsons Disease
NEJM 389:922-938, Roberts,E.A. & Schilsky, M.L., 2023
MR Imaging of the Brain in Neurologic Wilson Disease
AJNR 40:178-183, Yu, X.-E.,et al, 2019
Neurodegeneration with Brain Iron Accumulation
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Pyruvate Dehydrogenase Deficiency (PDCD)
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Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017
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
Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
JNNP 86:774-781, Van Egmond, M.E.,et al, 2015
A 56-year-old Man with Cognitive Impairment and Difficulty Tying his Necktie
Neurol 85:e116-e122, Baker, J.M.,et al, 2015
Inherited Metabolic Diseases of the Nervous System, Biopterine Deficiency
Adams & Victors Principles of Neurology, Chp 37, pg 951, Ropper, A.H.,et al, 2014
Inherited Metabolic Diseases of the Nervous System, The Phenylketonuria
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Dopa-Responsive Dystonia Revisited
Arch Neurol 69:1558-1562, Tadic, V.,et al, 2012
Huntingtons Disease
BMJ 341:34-40, Novak,M.J. &Tabrizi,S.J., 2010
Wilson Disease: Description of 282 Patients Evaluated Over 3 Decades
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Primary Episodic Ataxias:Diagnosis, Pathogenesis and Treatment
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Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
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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
Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
Neurol 45:1739-1743, Shulman,L.M.,et al, 1995
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
Wilson Disease
Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992
Wilson's Disease:The Problem of Delayed Diagnosis
JNNP 55:692-696, Walshe,J.M.&Yealland,M., 1992
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
The Dystonias
BMJ 300:139-144, Marsden,C.D.&Quinn,N.P., 1990
Wilson's Disease, Development of Neurological Disease after Beginning Penicillamine Therapy
Arch Neurol 47:595-596, Glass,J.D.,et al, 1990
Acute Profound Dystonia in Infants with Glutaric Acidemia
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Acute Extrapyramidal Syndrome in Methylmalonic Acidemia:"Metabolic Stroke"Involving the Globus Pallidus
J Pediatr 113:1022-1027, Heidenreich,R.,et al, 1988
Clinical Assessment of 31 Patients with Wilson's Disease, Correlations with Struct. Changes on MRI
Arch Neurol 44:365-370, Starosta-Rubinstein,S.,et al, 1987
Lesions of the Putamen:Their Relevance to Dystonia
Neurol 37:1125-1129, Fross,R.D.,et al, 1987
Pure Hemidystonia with Basal Ganglion Abnormalities on Positron Emission Tomography
Ann Neurol 15:228-233, Perlmutter,J.S.,et al, 1984
Diagnosis of Treatable Wilson's Disease
NEJM 298:1347, Cartwright,G.E., 1978
Clinical Diagnosis of the Dyskinesias
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