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Lancet 365:1259-1270, Freeman,R., 2005
Chronic Neurodegenerative Disease Associated with HTLV-II Infection
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Screening for Prolonged Incubation of HTLV-1 in Relatives of British Patients with Tropical Spastic Paraparesis
BMJ 300:300-304, Cruickshank,J.K.,et al, 1990
Degenerative Diseases of the Nervous System, Parkinson Disease
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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Whole-Genome Sequencing in a Patient with Charcot-Marie-Tooth Neuropathy
NEJM 362:1181-1191, Lupski,J.R., et al, 2010
Spinal Muscular Atrophy
Lancet 371:2120-2133, Lunn,M.R. &Wang,C.H., 2008
Fatal Avian Influenza A (H5N1) in a Child Presenting with Diarrhea Followed by Coma
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Adult-Onset MELAS Presenting as Herpes Encephalitis
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Incidence of Dominant Spinocerebellar and Friedreich Triplet Repeats Among 361 Ataxic Families
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Magnetic Resonance Imaging in Hereditary and Idiopathic Ataxia
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Nerve-Growth Factor in Familial Dysautonomia
NEJM 295:671, Montalcini,R.L., 1976
A 51-Year-Old Woman with Abnormal Corups Callosum Signal
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Amyotrophic Lateral Sclerosis
Lancet 400:1363-1380, Feldman, E.L.,et al, 2022
A 28-Year-Old Woman with Vision Loss and an Unusual Gait
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A 53-year-old Woman with Lower Extremity Paresthesias
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Ears of the Lynx Magnetic Resonance Imaging Sign
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A 72-year-old Man with a Progressive Cognitive and Cerebellar Syndrome
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Strokelike Episodes in a Patient with Chronic Gait Abnormalities
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GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy
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A 13-year-old boy with Chronic Ataxia and Developmental Delay
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MR Neurography for the Diagnosis of Hypertrophic Neuropathies
Neurol 89:e201, Sgobbi de Souza, P.V.,et al, 2017
Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
NEJM 377:2376-2385, Case 38-2017, 2017
Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
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Choreoathetosis, Dystonia, and Myoclonus in 3 Siblings with Autosomal Recessive Spinocerebellar Ataxia Type 16
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A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
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Chronic and Slowly Progressive Weakness of the Legs and Hands
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Neuronal Intranuclear Inclusion Disease Cases with Leukoencephalopathy Diagnosed via Skin Biopsy
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Degenerative Diseases of the Nervous System, Machado-Joseph-Azorean Disease
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Degenerative Diseases of the Nervous System, Kugelberg-Welander Syndrome SMAIII
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Degenerative Diseases of the Nervous System, Kennedy Syndrome (X-Linked Bulbospinal Muscular Atrophy)
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Cerebral Amyloid Angiopathy
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CNS Involvement at the Onset of Primary Hemophagocytic Lymphohistiocytosis
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Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
NEJM 367:1921-1929, Ligt, J.,et al, 2012
Genetic Aspects of Alzheimer Disease
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Genomewide Association Studies of Stroke
NEJM 360:1718-1728, Ikram,M.A.,et al, 2009
MR Imaging of Familial Creutzfeldt-Jakob Disease: A Blinded and Controlled Study
AJNR 29:1638-1643, Fulbright,R.K.,et al, 2008
Familial Dopa-Responsive Cervical Dystonia
Neurol 66:599-601, Schneider,S.A.,et al, 2006
Clinicopath Conf, Charcot-Marie-Tooth Disease Type 2, with Aides Pupil and a Mutation in MPZ Gene
NEJM 354:2584-2592, Case 18-2006, 2006
Genetic Factors in Alzheimer's Disease
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Phaeochromocytoma
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Hereditary Motor and Sensory Neuropathies
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The Parkinsonian Phenotype of Spinocerebellar Ataxia Type 2
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Charcot-Marie-Tooth Disease:Extensive Cranial Nerve Involvement on CT and MR Imaging
AJNR 25:494-497, Aho,T.R.,et al, 2004
Alzheimer's Disease and Parkinson's Disease
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Clinical Features and Neuropathology of Autosomal Dominant Spinocerebellar Ataxia (SCA17)
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Patients with Multiple Sclerosis and Risk of Type 1 Diabetes Mellitus in Sardinia,Italy: A Cohort Study
Lancet 359:1461-1465,1450, Marrosu,M.G.,et al, 2002