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Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
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Red Papules on the Tongue of a Patient with Hemiparesis
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Aicardi-Gouti�res Syndrome
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Cerebrovascular Complications of Fabry's Disease
Ann Neurol 40:8-17, Mitsias,P.&Levine,S.R., 1996
Chediak-Higashi Syndrome
Arch Neurol 41:1001-1002, Pettit,R.E.,et al, 1984
Periodic Meningitis & Familial Mediterranean Fever
Arch Int Med 142:378-379, Vilaseca,J.,et al, 1982
Angiokeratoma Corporis Diffusum
Quart J Med 31:177, 1962 April., Wise,D.,et al, 1962
Thyrotoxic Periodic Paralysis
UptoDate Jan, Gutmann, L. & Conwit, R., 2022
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A 22-Year-Old Man with Progressive Bilateral Visual Loss
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Clinical and Neuroimaging Features in Gorlin-Goltz Syndrome
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Intractable Epilepsy and Progressive Cognitive Decline in a Young Man
JAMA Neurol 74:737-740, Cohen, A.L.,et al, 2017
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The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
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Cerebral Abnormalities in Adults with Ataxia-Telangiectasia
AJNR 35:119-123, Lin, D.D.M.,et al, 2014
Sturge-Weber Syndrome
UptoDate , Nov, Bodensteiner, J.B., 2014
Inherited Metabolic Diseases of the Nervous System, Lipogranulomatosis (Farber Disease)
Adams & Victors Principles of Neurology, Chp 37, pg 960, Ropper, A.H.,et al, 2014
Inherited Metabolic Diseases of the Nervous System, Metachromatic Leukodystrophy
Adams & Victors Principles of Neurology, Chp 37, pg 971, Ropper, A.H.,et al, 2014
Inherited Metabolic Diseases of the Nervous System, Fabry Disease
Adams & Victors Principles of Neurology, Chp 37, pg 991, Ropper, A.H.,et al, 2014
Sturge-Weber Syndrome
MedLink Neurology, July, Comi, A.M., 2013
Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
UpToDate, Feb, Shovlin, C., 2011
A 63-Year-Old Woman with Urinary Incontinence and Progressive Gait Disorder
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Neurofibromatosis Type 2
Lancet 373:1974-1986, Astagiri,A.R.,et al, 2009
Nearly Completely Reversible Brain Abnormalities in a Patient With Incontinentia Pigmenti
AJNR 29:431-433, Lou,H.,et al, 2008
Tuberous Sclerosis
Lancet 372:657-658, Curatolo,P.,et al., 2008
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UptoDate (May), Bodamer,O.A., 2008
Phenylketonuria
eMedicine (December), Arnold,G.L., 2007
Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
NEJM 355:831-839, Case 26-2006, 2006
The Tuberous Sclerosis Complex
NEJM 355:1345-1356, Crino,P.B.,et al, 2006
Glycogen-Storage Disease Type II
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Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
Epilepsy Res 70S:S223-S230, Fujiwara,T., 2006
Epilepsy Syndromes in Infancy
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Brain Magnetic Resonance Imaging in Patients with Cowden Syndrome
Medicine 84:129-136, Lok,C.,et al, 2005
Malignant Hyperthermia, Update on Susceptibility Testing
JAMA 293:2918-2924,2958, Litman,R.S.&Rosenberg,H., 2005
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL)
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Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases
Arch Neurol 60:322-328, Wegner,D.A.,et al, 2003
Autosomal Dominant Acute Necrotizing Encephalopathy
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Mutations in Each of the Five Subunits of Translation Initiation Factor eIF2B Can Cause Leukoencephalopathy with Vanishing White Matter
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Spinocerebellar Ataxia Type 10 is Rare in Populations Other Than Mexicans
Neurol 58:983-984, Matsuura,T.,et al, 2002
Familial Temporal Lobe Epilepsy with Febrile Seizures
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National Institutes of Health Consensus Conference: Tuberous Sclerosis Complex
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De Novo Mutation in the Notch3 Gene Causing CADASIL
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Niemann-Pick Disease Type C: Two Cases and an Update
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Sjogren-Larsson Syndrome, Clinical and MRI/MRS Findings in FALDH-Deficient Patients
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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