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Familial Hemiplegic Migraine and Autosomal Dominant Arteriopathy with Leukoencephalopathy (CADASIL)
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Clinical Spectrum of CADASIL:A Study of 7 Families
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Progressive Pontobulbar Palsy With Deafness
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Clinical Syndromes of Myasthenia in Infancy & Childhood
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A 60-Year-Old Man with Weakness and Gait Dysfunction
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Rapidly Progressive Frontotemporal Dementia with Amytrophic Lateral Sclerosis in an Elderly Female
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Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
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The Phenotypic Continuum of ATP1A3-Related Disorders
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Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
NEJM 385:165-175, Case 20-2021, 2021
Ears of the Lynx Magnetic Resonance Imaging Sign
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Clinical Reasoning: A Teenager with Left Arm Weakness
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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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Practice Parameter: Evaluation of the Child with Microcephaly (An Evidence-Based Review): Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society
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Amyotrophic Lateral Sclerosis
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Mitochondrial DNA Polymerase-y and Human Disease
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Neurologic Features of Horizontal Gaze Palsy and Progressive Scoliosis with Mutations in ROBO3
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Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL)
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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Autosomal Dominant Migraine with MRI White-Matter Abnormalities Mapping to the CADASIL Locus
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Progress in the Genetics of Cerebrovascular Disease Inherited Subcortical Arteriopathies
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A Familial Disorder with Subcortical Ischemic Strokes, Dementia, and Leukoencephalopathy
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Location of the Gene for X-Linked Spinal Muscular Atrophy
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Familial Recurrent Peripheral Facial Palsy
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Congenital Titinopathy:Comprehensive Characterization of the Most Severe End of the Disease Spectrum
Ann Neurol 97:611-628, Coppens,S.,et al, 2025
A Toddler with Acute-Onset Hypotonia, Areflexia, and Ataxia
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Abnormal and Persistent Mineralization of Globi Pallidi in GAMT Deficiency
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The Spectrum of Fragile X Disorders
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A 2-Year-Old Girl with Acute Encephalopathy After Febrile Systemic Illness
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A 9-Year-Old Girl with CNS Immune Dysregulation
Neurol 105:e213999, Marefi,A.,et al, 2025
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
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
Neurol 102:e209358, Barbosa,A.R.,et al, 2024
Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
Neurol 103:e209844, Dhawan,A.,et al, 2024
A 50-Year-Old Man with Ataxia, Dystonia, and Abnormal Ocular Movements
Neurol 103:e210046, Panigrahi,B.,et al, 2024
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
Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023
Clinicopathologic Conference, Facioscapulohumeral Muscular Dystrophy
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Multiple Cranial Nerve Gadolinium Enhancement in Norrie Disease
Ann Neurol 91:158-159, Jokela, M.,et al, 2022
A 6-Year-Old Girl with Progressive Toe Walking
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Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
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Spinal Muscular Atrophy
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Imaging Patterns Characterizing Mitochondrial Leukodystrophies
AJNR 42:1334-1340, Roosendaal, S.D.,et al, 2021
Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
NEJM 385:1317-1325, Case 30-2021, 2021
Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
Neurol 97:875-878, Dinov, D.,et al, 2021
Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020
A 22-Year-Old Man with Progressive Bilateral Visual Loss
Neurol 94:625-630, Yang, S.L.,et al, 2020