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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Autosomal Dominant System Degeneration in Portugese Families of the Azores Islands
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A 6-Year-Old Girl with Progressive Toe Walking
Neurol 98:e769-e773, Libdeh, A.A. & Ibrahim, A., 2022
A 23-Year-Old Woman Presenting with Cognitive Impairment and Gait Disturbance
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Frequency and Characterization of Movement Disorders in Anti-IgLON5 Disease
Neurol 97:e1367-e1381, Gaig, C.,et al, 2021
Functional Gait Disorders
Neurol 94:1093-1099, Nonnekes, J.,et al, 2020
IgLON5-mediated neurodegeneration is a differential diagnosis of CNS Whipple disease
Neurol 90:1113-1115, Morales-Briceno, H.,et al, 2018
Pyruvate Dehydrogenase Deficiency (PDCD)
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Autoimmune Encephalitides: A Broadening Field of Treatable Conditions
Neurologist 22:1-13, Kalman, B., 2017
A Demure Teenager and Her Dystonic Foot
Neurol 89:e71-e75, Cullinane, P.W.,et al, 2017
Paraneoplastic and Autoimmune Encephalitis
UptoDate July, Dalmau, J.,et al, 2017
Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017
Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
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Autopsy Case of Severe Generalized Dystonia and Static Ataxia with Marked Cerebellar Atrophy
Neurol 85:1522-1524, Miyamoto, R.,et al, 2015
Degenerative Diseases of the Nervous System, Progressive Supranuclear Palsy
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Criteria for the Diagnosis of Corticobasal Degeneration
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Risk Factors for Spinal Cord Lesions in Dystonic Cerebral Palsy and Generalised Dystonia
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Rapidly Progressive Corticobasal Degeneration Syndrome
Case Rep Neurol 3:185-190, Herrero Valverde, A.,et al, 2011
Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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Clinicopath Conf, Rapid-Onset-Dystonia-Parkinsonism Due to a Mutation in the ATP1A3 Gene
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High Doses of Deferiprone May Be Associated with Cerebellar Syndrome
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Clinical Spectrum of Ataxia-Telangiectasia in Adulthood
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The Expanding Phenotype of GLUT1-Deficiency Syndrome
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Progressive Supranuclear Palsy: A Current Review
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Primary Episodic Ataxias:Diagnosis, Pathogenesis and Treatment
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Dopamine-Responsive Dystonia
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Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
NEJM 348:33-40, Hayflick,S.J.,et al, 2003
HIV-Related Movement Disorders, Epidemiology, Pathogenesis and Management
CNS Drugs 16:663-668, Cardoso,F., 2002
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
Niemann-Pick Disease Type C: Two Cases and an Update
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Slater Revisited:6 Year Follow Up Study of Pts with Medically Unexplained Motor Symptoms
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Clinical Presentation and Pharmacological Therapy in Corticobasal Degeneration
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Dopa-Responsive Dystonia, Some Pieces of the Puzzle are Still Missing
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Accuracy of the Clinical Diagnosis of Corticobasal Degeneration:A clinicopathologic Study
Neurol 48:119-125, Litvan,I.,et al, 1997
Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
Ann Neurol 39:343-351, Rahman,S.,et al, 1996
Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
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
Long-Term Botulinum Toxin Treatment of Focal Hand Dystonia
Neurol 44:70-76, Karp,B.I.,et al, 1994
Movement Disorders with Cerebral Toxoplasmosis and AIDS
Movement Disorders 8:107-112, Nath,A.,et al, 1993
Niemann-Pick Disease Type C:Diagnosis and Outcome in Children, with Particular Reference to Liver disease
J Pediatr 123:242-247, Kelly,D.A.,et al, 1993
Clinicopath Conf
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GM1 Gangliosidosis in Adults:Clinical and Molecular Analysis of 16 Japanese Patients
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Wilson Disease
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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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Dopa-Responsive Dystonia:Long-Term Treatment Response and Prognosis
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Hallervorden-Spatz Syndrome and Brain Iron Metabolism
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