A 60-Year-Old Man with Weakness and Gait Dysfunction
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Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
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The Autosomal Recessive Cerebellar Ataxias
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Myotonic Dystrophy
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A 62-Year-Old Woman with Progressive Spasticity, Weakness,and Gait Instability
Neurol 104:e210290, Voloshyna-Farber, E.Y.,et al, 2025
Clinodactyly as a Key Finding in Distal Spinal Muscular Atrophy
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A 63-Year-Old Female Patient Presenting with Orthostatic Hypotension and Ataxia
Neurol 105:e213993, Shen,F.,et al, 2025
A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
A 51-Year-Old Woman with Abnormal Corups Callosum Signal
JAMA Neurol 81:192-193, Xie,N. & Sun, Q, 2024
A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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A 60-Year-Old Woman with Rapidly Progressive Muscle Weakness and Ophthalmoparesis
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A 26-Year-Old Woman with Chronic Progressive Gait Dysfunction
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A 26-Year-Old Woman with Recurrent Pain, Weakness, and Atrophy in Bilateral Upper Limbs During Pregnancy and Puerperium
Neurol 100:631-637, Zeng,T.f.,et al, 2023
Clinicopathologic Conference, Facioscapulohumeral Muscular Dystrophy
NEJM 388:2379-2387, Case 19-2023, 2023
A 48-Year-Old Man With Spasticity and Progressive Ataxia
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Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
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Spinal Muscular Atrophy
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The Phenotypic Continuum of ATP1A3-Related Disorders
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A Middle-aged Woman with Severe Scoliosis and Encephalopathy
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A 25-year-old Woman with Recurrent Episodes of Collapse and Loss of Consciousness
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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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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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Action Tremor, Impaired Balance, and Executive Dysfunction in Midlife
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Huntington Disease: Clinical Features and Diagnosis
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Characyeristic features and progression of abnormalities on MRI for CARASIL
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Non-Alzheimers Dementia 1 Frontotemporal Dementia
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Chronic and Slowly Progressive Weakness of the Legs and Hands
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Actionable Diagnosis of Neuroleptospirosis by Next-Generation Sequencing
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Degenerative Diseases of the Nervous System, Kennedy Syndrome (X-Linked Bulbospinal Muscular Atrophy)
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The Limbic-Girdle Muscular Dystrophies
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Clinicopath Conf, Infantile Krabbe Disease
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Clinical and Neuroimaging Findings of Cree Leukodystrophy: A Retrospective Case Series
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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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Finding the Causes of Inherited Neuropathies
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Unusual Variants of Alexander's Disease
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Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
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Jaw Drop in Kennedy's Disease
Neurol 59:1471-1472, Sumner,C.J. &Fischbeck,K.H., 2002
Spinobulbar Muscular Atrophy Can Mimic ALS:The Importance of Genetic Testing in Male Patients with Atypical ALS
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Dentatorubral-Pallidoluysian Atrophy:Clin Features Closely Related to Unstable Expansion of Trinucleotide (CAG) Repeat
Ann Neurol 37:769-775, Ikeuchi,T.,et al, 1995
Clinical Genetics in Neurological Disease
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Trinucleotide Repeat Expansion in Neurological Disease
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Molecular Genetics in Neurology
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A Toddler with Acute-Onset Hypotonia, Areflexia, and Ataxia
Neurol 104:e213593, Pence, K.L. &Clark, R.A., 2025
A 57-Year-Old Man With Chronic Gait Unsteadiness and Diminished Lower Extremity Sensation
Neurol 104:e213713, Rawat,R.,et al, 2025
The Spectrum of Fragile X Disorders
NEJM 393:281-288, Hagerman,R.H. & Hagerman,P.J., 2025
Adult-Onset Coats Plus, A Case of Leukoencephalopathy with Calcifications, a Tumefactive Brain Lesion, and a Presumed Autoimmune Disease
Neurol 105:e214124, Gerrao,C.,et al, 2025
A 22-Year-Old Woman with Episodic Weakness and Jaundice
Neurol 103:e210018, Rathinasbapathi,M.,et al, 2024