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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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Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
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Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
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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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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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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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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
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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
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Duchenne Muscular Dystrophy
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A 22-Year-Old Man with Progressive Bilateral Visual Loss
Neurol 94:625-630, Yang, S.L.,et al, 2020
Complex Ataxia
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Pediatric Leigh Syndrome
Ann Neurol 88:218-232, Alves, C.A.P.F.,et al, 2020
Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
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An Unusual Fundus Finding in a Teenage Girl
JAMA Neurol 75:1566-1567, Filho, F.M.R.,et al, 2018
Wilson Disease
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A 13-year-old boy with Chronic Ataxia and Developmental Delay
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A 10-year-old boy with Bilateral Vision Loss
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Neuroimaging Changes in Menkes Disease, Part 1
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Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
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Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
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A Neonate with Micrognathia and Hypotonia
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Hydrocephalus in Children
Lancet 387:788-799, Kahle, K.T.,et al, 2016
The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
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