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A 60-Year-Old Man with Weakness and Gait Dysfunction
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Clinodactyly as a Key Finding in Distal Spinal Muscular Atrophy
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Adult-Onset Coats Plus, A Case of Leukoencephalopathy with Calcifications, a Tumefactive Brain Lesion, and a Presumed Autoimmune Disease
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A 60-Year-Old Woman with Rapidly Progressive Muscle Weakness and Ophthalmoparesis
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Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
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The Phenotypic Continuum of ATP1A3-Related Disorders
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A 28-Year-Old Woman with Vision Loss and an Unusual Gait
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Progressive Proximal Weakness in a 56-year-old Man with Bone Pain
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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Clinical Reasoning: Cardioembolic Stroke in a 23-year-old Man with Elbow Contracture
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A Child with Delayed Motor Milestones and Ptosis
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Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
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Non-Alzheimers Dementia 1 Frontotemporal Dementia
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Degenerative Diseases of the Nervous System, Kennedy Syndrome (X-Linked Bulbospinal Muscular Atrophy)
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The Autosomal Recessive Cerebellar Ataxias
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Outcome of Neonatal Screening for Medium-Chain acyl-CoA Dehydrogenase Deficiency in Australia: A Cohort Study
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Impact of Presymptomatic Genetic Testing for Hereditary Ataxia and Neuromuscular Disorders
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New Strategy for Prenatal Diagnosis of X-Linked Disorders
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Jaw Drop in Kennedy's Disease
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New Nomenclature and DNA Testing Guidelines for Myotonic Dystrophy Type 1 (DM1)
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Spinobulbar Muscular Atrophy Can Mimic ALS:The Importance of Genetic Testing in Male Patients with Atypical ALS
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Cardiac Involvement in a Large Kindred with Myotonic Dystrophy:Quant Assess & Relation to Size of CTG Repeat Expansion
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Myotonic Dystrophy with No Trinucleotide Repeat Expansion
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The Polymerase Chain Reaction:Application to Nervous System Disease
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A 62-Year-Old Woman with Progressive Spasticity, Weakness,and Gait Instability
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A Toddler with Acute-Onset Hypotonia, Areflexia, and Ataxia
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The Spectrum of Fragile X Disorders
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Unmasking Cerebrotendinous Xanthomatosis, Clinical Recognition of a Treatable Cause of Progressive Ataxia
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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A 51-Year-Old Woman with Abnormal Corups Callosum Signal
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A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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A 26-Year-Old Woman with Chronic Progressive Gait Dysfunction
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A 22-Year-Old Woman with Episodic Weakness and Jaundice
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A 50-Year-Old Man with Ataxia, Dystonia, and Abnormal Ocular Movements
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A 65-Year-Old Woman with Isolated Macroglossia as the Initial Presentation of a Rare Disease
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A 26-Year-Old Woman with Recurrent Pain, Weakness, and Atrophy in Bilateral Upper Limbs During Pregnancy and Puerperium
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Adult Patient Presenting with Spine Pain Following a Motor Vehicle Accident
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A 48-Year-Old Man With Spasticity and Progressive Ataxia
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