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NEJM 385:1317-1325, Case 30-2021, 2021
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Neurol 87:e56-e57, Saini, A.G.,et al, 2016
Cerebral Abnormalities in Adults with Ataxia-Telangiectasia
AJNR 35:119-123, Lin, D.D.M.,et al, 2014
Clinical Spectrum of Ataxia-Telangiectasia in Adulthood
Neurol 73:430-437, Verhagen,M.M.M.,et al, 2009
Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
Pediatrics 102:98-100, Cabana,M.D.,et al, 1998
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
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Stroke 54:e512-e515, Silveira,L.,et al, 2023
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www.UptoDate.com,Dec, Patterson,M.C., 2022
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Neurol 92:e161-e167, Xiao, L.,et al, 2019
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BMJ 366:I4966, Ghali, N.,et al, 2019
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UptoDate May, Spelman, D., 2019
Clinical and Neuroimaging Features in Gorlin-Goltz Syndrome
Neurol 88:e52-e54, da paz Oliveira, G.,et al, 2017
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Neurol 85:e52-e55, Yaghi, S.,et al, 2015
Extraintestinal Manifestations of Coeliac Disease
Nat Rev Gastroenterol Hepatol 12:561-571, Leffler, D.A.,et al, 2015
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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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
Sturge-Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ
NEJM 368:1971-1979, Shirley, M.,et al, 2013
Sturge-Weber Syndrome
MedLink Neurology, July, Comi, A.M., 2013
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BMJ 342:c7200, Bell, S.L. & Eveson, D.J., 2011
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Neurol 76:1372-1376, Sone, J.,et al, 2011
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UpToDate, Feb, Shovlin, C., 2011
Sjogren Syndrome: Neurologic Complications
www.Medlink.com,Jan, Roman,G.C., 2010
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Lancet 373:1974-1986, Astagiri,A.R.,et al, 2009
Aicardi-Gouti�res Syndrome: Neuroradiologic Findings and Follow-up
AJNR 30:1971-1976, Uggetti,C.,et al, 2009
Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,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
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NEJM 355:1345-1356, Crino,P.B.,et al, 2006
Brain Magnetic Resonance Imaging in Patients with Cowden Syndrome
Medicine 84:129-136, Lok,C.,et al, 2005
Von Recklinghausen's Neurofibromatosis: Neurofibromatosis Type 1
Lancet 361:1552-1554, Reynolds,R.M., et al, 2003
Craniofacial and Cutaneous Findings Expand the Phenotype of Hereditary Neuralgic Amyotrophy
Neurol 57:1963-1968, Jeannet,P.,et al, 2001
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AJNR 21:1016-1020, Matsubara,S.,et al, 2000
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Arch Neurol 57:662-665, Hyman,M.H.&Whittemore,V.H., 2000
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JNNP 69: 5-12, Gray,R.G.F. et al, 2000
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Neurol 52:1345-1352,1307, Van Domburg,P.H.M.F.,et al, 1999
New Developments in the Neurobiology of the Tuberous Sclerosis Complex
Neurol 53:1384-1390, Crino,P.B.&Henske,E.P., 1999
Cerebrovascular Complications of Fabry's Disease
Ann Neurol 40:8-17, Mitsias,P.&Levine,S.R., 1996
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Neurol 45:331-337, Lossos,A.,et al, 1995
Hereditary Sensory and Autonomic Neuropathy with Cataracts, Mental Retardation, and Skin Lesions:Five Cases
Neurol 45:1405-1408, Heckmann,J.M.,et al, 1995
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NEJM 333:918-924, Guttmacher,A.E.,et al, 1995
Cerebrovascular Complications in Ehlers-Danlos Syndrome Type IV
Ann Neurol 38:960-964, North,K.N.,et al, 1995
Anticonvulsant Hypersensitivity Syndrome
Arch Int Med 155:2285-2290, Vittorio,C.C.&Muglia,J.J., 1995
Familial Sneddon's Syndrome:Clinical, Hematologic, and Radiographic Findings in Two Brothers
Neurol 44:399-405, Pettee,A.D.,et al, 1994
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Stroke 25:889-903, Schievink,W.I.,et al, 1994
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Editorial, Lancet 339:651-6521992., , 1992