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NEJM 360:1656-1665, Case 12-2009, 2009
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Familial Occipital Calcifications, hemorrhagic Strokes, Leukoencephalopathy, Dementia, and External Carotid Dysplasia
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De Novo Mutation in the Notch3 Gene Causing CADASIL
Ann Neurol 47:388-391, Joutel,A.,et al, 2000
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JNNP 59:579-585, Verin,M.,et al, 1995
Hallervorden-Spatz Syndrome and Brain Iron Metabolism
Arch Neurol 48:1285-1293, Swaiman,K.F., 1991
Intracranial Hemorrhage in Patients with Polycystic Kidney Disease
Stroke 21:291-294, Ryu,S.J., 1990
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Clinicopathologic Conference,Aceruloplasminemia, Hereditary
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Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
NEJM 377:2376-2385, Case 38-2017, 2017
Intracranial Neoplasms and Paraneoplastic Disorders, Meningioma
Adams & Victors Principles of Neurology, Chp 31, pg 656, Ropper, A.H.,et al, 2014
A Young Man with Progressive Subcortical Lesions and Optic Nerve Atrophy
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Aicardi-Gouti�res Syndrome
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Update on Blepharospasm: Report from the BEBRF International Workshop
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MR Imaging of Familial Creutzfeldt-Jakob Disease: A Blinded and Controlled Study
AJNR 29:1638-1643, Fulbright,R.K.,et al, 2008
Familial Infantile Bilateral Striatal Necrosis
Neurol 59:983-989, Straussberg,R.,et al, 2002
Dipsticks and Convulsions
Lancet 352:1824, Koch,H., 1998
Familial Idiopathic Brain Calcification with Autosomal Dominant Inheritance
Neurol 48:645-649, Kobari,M.,et al, 1997
CT and MR Findings of Neuroacanthocytosis
J Comput Assist Tomogr 21:221-222, Okamoto,K.,et al, 1997
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Familial Idiopathic Striopallidodentate Calcifications
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Hereditary Hemorrhagic Telangiectasia, Clinical Presentations, and Management
Stroke 54:e512-e515, Silveira,L.,et al, 2023
Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
NEJM 385:1317-1325, Case 30-2021, 2021
Recurrent Cerebral Ischemia During Pregnancies
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A 14-Year-Old Girl with Headache, Seizures, and Confusion
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A Teenager with Persistent Headache
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Cranial Cavernous Malformations
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Sudden-Onset Pulsatile Headache in a Previously Healthy Young Man
Neurol 88:e26-e29, Qin, C.,et al, 2017
Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
Red Papules on the Tongue of a Patient with Hemiparesis
JAMA 312:741-742, Chiu, H.Y. & Lin, S.J., 2014
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Vertebral Artery Dissection in Patients with Autosomal Dominant Polycystic Kidney Disease
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Cerebral Amyloid Angiopathy
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The Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) Scale
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An unusual cause of stroke and hypoxia
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UpToDate, Feb, Shovlin, C., 2011
Comparison of Clinical, Familial, and MRI Features of CADASIL and NOTCH3-Negative Patients
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Optimal Screening Strategy for Familial Intracranial Aneurysms: A Cost-Effectiveness Analysis
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A Hereditary Moyamoya Syndrome With Multisystemic Manifestations
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