Dystonia
NEJM 355:818-829, Tarsy,D. &Simon,D.K., 2006
Parkinson's Disease
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Imaging Patterns Characterizing Mitochondrial Leukodystrophies
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Pediatric Leigh Syndrome
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Clinicopathologic Conference,Aceruloplasminemia, Hereditary
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Challenging Diagnosis of Gerstmann-Straussler-Scheinker Disease
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Dentate Update: Imaging Features of Entities that Affect the Dentate Nucleus
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Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
NEJM 377:2376-2385, Case 38-2017, 2017
Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017
MRI Findings of Biotin-Responsive Basal Ganglia Disease Before and After Treatment
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Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
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Clinicopath Conf, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
NEJM 360:1656-1665, Case 12-2009, 2009
Update on Blepharospasm: Report from the BEBRF International Workshop
Neurol 71:1275-1282, Hallett,M.,et al, 2008
MR Imaging of Familial Creutzfeldt-Jakob Disease: A Blinded and Controlled Study
AJNR 29:1638-1643, Fulbright,R.K.,et al, 2008
Neuroimaging Findings in Human Prion Disease
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Infantile Bilateral Striatal Necrosis Maps to Chromosome 19q
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003
Familial Infantile Bilateral Striatal Necrosis
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De Novo Mutation in the Notch3 Gene Causing CADASIL
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Distribution of Cranial MRI Abnormalities in Patients with Symptomatic and Subclinical CADASIL
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Clinical Spectrum of CADASIL:A Study of 7 Families
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New Phenotype of the Cerebral Autosomal Dominant Arteriopathy Mapped to Chromosome 19:Migraine as the Prominent Clinical Feature
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Cerebral Involvement in McLeod Syndrome
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Hallervorden-Spatz Syndrome and Brain Iron Metabolism
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Leigh Disease (Subacute Necrotizing Encephalomyelopathy) :CT & MR in Five Cases
J Comput Assist Tomogr 12:40-44, Geyer,C.A.,et al, 1988
MR Imaging of Pelizaeus-Merzbacher Disease
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Systematic Genetic Assessment in Young Patients with Cryptogenic Stroke: The ES-EASY Project
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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
A Toddler with Acute-Onset Hypotonia, Areflexia, and Ataxia
Neurol 104:e213593, Pence, K.L. &Clark, R.A., 2025
Abnormal and Persistent Mineralization of Globi Pallidi in GAMT Deficiency
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A 2-Year-Old Girl with Acute Encephalopathy After Febrile Systemic Illness
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A 63-Year-Old Female Patient Presenting with Orthostatic Hypotension and Ataxia
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Unmasking Cerebrotendinous Xanthomatosis, Clinical Recognition of a Treatable Cause of Progressive Ataxia
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A 10-Year-Old Boy with Progressive Tremor, Insomnia and Autonomic Dysfunction
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Multivessel Cerebral Occlusion in Noonan Syndrome
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Melas Syndrome
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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A 24-Year-Old Man with Spastic Ataxia and Hypodontia
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A 50-YEar-Old Man with Intracerebral Hemorrhage and Tortuous Retinal Arterioles
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RNF213 Polymorphisms in Intracranial Artery Dissection
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Slowly rogressive Cerebellar Ataxia in a 55-Year-Old Female Patient
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A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
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Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
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Neonatal Seizures
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A 48-Year-Old Man With Spasticity and Progressive Ataxia
Neurol 101:e1747-e1752, Vizcarra,J.A.,et al, 2023
The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022
Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
NEJM 385:165-175, Case 20-2021, 2021
Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
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