Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
NEJM 355:831-839, Case 26-2006, 2006
Niemann-Pick Type C Disease
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Niemann-Pick Disease Type C
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Clinicopathologic Conference, Functional Vitamin B12 Deficiency from Use of Nitrous Oxide
NEJM 388:1893-1900, Case 15-2023, 2023
Current and Emerging Issues in Wilsons Disease
NEJM 389:922-938, Roberts,E.A. & Schilsky, M.L., 2023
The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022
CASPR2 Autoimmunity in Children Expanding to Mild Encephalopathy with Hypertension
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A Young Generalized Dystonia Patient with Globus-Pallidus-Specific Lesion
Ann Neurol 88:637-638, Wu, H.,et al, 2020
Clinicopathologic Conference, Pernicious Anemia (Vitamin B12 Deficiency)
NEJM 380:665-674, Case 5-2019, 2019
Prodromal Symptoms of Multiple Sclerosis in Primary Care
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Autoimmune Encephalitides: A Broadening Field of Treatable Conditions
Neurologist 22:1-13, Kalman, B., 2017
Paraneoplastic and Autoimmune Encephalitis
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Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017
Adult-Onset Niemann-Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult
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Cognitive Impairment Profile in adult Patients with Neimnn Pick Type C Disease
Orphanet J Rare Dis 12:166, Heitz, C., et al, 2017
Psychosis in an Adolescent Girl: A Common Manifestation in Niemann-Pick Type C Disease
Child Adolesc Pych Ment Health 8:20, Wouters,S.,et al, 2014
Clinical Reasoning: A 13-year-old Boy Presenting with Dystonia,Myoclonus,and Anxiety
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Autoimmune encephalitis
BMJ 342:d1918, Irani, S.R.,et all, 2011
Anti-N-Methyl-d-Aspartate Receptor Encephalitis: Characteristic Behavioral and Movement Disorder
Arch Neurol 67:250-251, Ferioli,S.,et al, 2010
Huntingtons Disease
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Sjogren Syndrome: Neurologic Complications
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Anti-N-Methyl-D-Aspartate Receptor (NHMDAR) Encephalitis in Children and Adolescents
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N-Methyl-D-Aspartate Receptor Antibodies in Pediatric Dyskinetic Encephalitis Lethargica
Ann Neurol 66:704-709, Dale,R.,et al, 2009
Wilson Disease: Description of 282 Patients Evaluated Over 3 Decades
Medicine 86:112-121, Taly,A.B., et al, 2007
Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
NEJM 348:33-40, Hayflick,S.J.,et al, 2003
The Neurologic Complications of Scleromyxedema
Medicine 80:313-319, Berger,J.R.,et al, 2001
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
Slater Revisited:6 Year Follow Up Study of Pts with Medically Unexplained Motor Symptoms
BMJ 316:582-586, 5641998., Crimlisk,H.L.,et al, 1998
Comparison of Extrapyramidal Features in 31 Path Cases of Diffuse Lewy Body Disease & 34 Cases of Parkinson's
Neurol 48:376-380, Louis,E.D.,et al, 1997
New Variant Creutzfeldt-Jakob Disease:Neurological Features and Diagnostic Tests
Lancet 350:903-907, Zeidler,M.,et al, 1997
Nonmotor Fluctuations in Patients with Parkinson's Disease
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Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
Neurol 45:1739-1743, Shulman,L.M.,et al, 1995
Wilson Disease
Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992
Wilson's Disease:Current Status
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Wilson's Disease:The Problem of Delayed Diagnosis
JNNP 55:692-696, Walshe,J.M.&Yealland,M., 1992
Wolfram Syndrome:Evidence of a Diffuse Neurodegenerative Disease by Magnetic Resonance Imaging
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Causalgia and Other Reflex Sympathetic Dystrophies
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Neuropsychiatric Disorders Caused by Cobalamin Deficiency in the Absence of Anemia or Macrocytosis
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Anderson-Fabray Disease, A Commonly Missed Diagnosis
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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
Clinicopathological Conference Metachromatic Leukodystrophy (juvenile type)
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Clinical Pathological Conference
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Diagnosis of Treatable Wilson's Disease
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Paroxysmal Choreoathetosis as a Presenting Symptom in Idiopathic Hypoparathyroidism
JNNP 40:692, Soffer,D.,et al, 1977
The Thyroid Gland:Its Relationship to Neurology
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Central Nervous System Manifestations of Periarteritis Nodosa
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