Neuronal Intranuclear Inclusion Disease Cases with Leukoencephalopathy Diagnosed via Skin Biopsy
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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 42-year-old man with unilateral leg weakness
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MR Neurography for the Diagnosis of Hypertrophic Neuropathies
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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
Ann Neurol 77:1-7, Scripko, P.,et al, 2015
Chronic and Slowly Progressive Weakness of the Legs and Hands
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Degenerative Diseases of the Nervous System, Parkinson Disease
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Degenerative Diseases of the Nervous System, Olivopontocerebellar Atrophy
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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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Clinicopathologic Conference, Kufs Disease (Autosomal Dominant) Parry Type Neuronal Ceroid Lypofuscinosis
NEJM 364:1062-1074, Case 8-2011, 2011
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
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Clinicopath Conf, Charcot-Marie-Tooth Disease Type 2, with Aides Pupil and a Mutation in MPZ Gene
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Fatal Avian Influenza A (H5N1) in a Child Presenting with Diarrhea Followed by Coma
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Autonomic Peripheral Neuropathy
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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
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Clinical Features and Neuropathology of Autosomal Dominant Spinocerebellar Ataxia (SCA17)
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Jaw Drop in Kennedy's Disease
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Spinocerebellar Ataxia Type 2 Presenting as Familial Levodopa-Responsive Parkinsonism
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Cardiac Dysfunction in Neuromuscular Diseases
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Spinocerebellar Ataxia Type 8
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Adult-Onset MELAS Presenting as Herpes Encephalitis
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Clinical and MRI Findings in Spinocerebellar Ataxia Type 5
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Familial Aggregation in Frontotemporal Dementia
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Inclusion Body Myositis in Twins
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Incidence of Dominant Spinocerebellar and Friedreich Triplet Repeats Among 361 Ataxic Families
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Hereditary Frontotemporal Dementia is Linked to Chromosome 17q21-q22:Genetic & Clinicopath Study of 3 Dutch Families
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Frontotemporal Dementia is on the MAP
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Various Types of Hereditary Inclusion Body Myopathies Map to Chromosome 9p1-q1
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Gene Locus for Autosomal Recessive Distal Myopathy with Rimmed Vacuoles Maps to Chromosome 9
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Familial Nature and Continuing Morbidity of the Amyotrophic Lateral Sclerosis-Parkinsonism Dementia Complex of Guam
Neurol 49:400-409, McGeer,P.L.,et al, 1997
Spinobulbar Muscular Atrophy Can Mimic ALS:The Importance of Genetic Testing in Male Patients with Atypical ALS
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Spinocerebellar Ataxia Type 6, Molecular & Clin Features of 35 Japanese Pts (1 Homozygous for CAG Repeat Expan)
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Charcot-Marie-Tooth Neuropathies:From Clinical Description to Molecular Genetics
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Genotype-Phenotype Correlation in Adult-Onset Acid Maltase Deficiency
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