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Lancet 400:1363-1380, Feldman, E.L.,et al, 2022
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Lancet 386:1672-1682, Bang, Jee.,et al, 2015
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Neurol 50:1541-1545, Stevens,M.,et al, 1998
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Semin Neurol 19:261-270, Brewer,G.J.,et al, 1999
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The Neurologist 4:188-195, Feigin,A.&Clarke,H., 1998
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Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
Progressive Language Disorder Due to Lobar Atrophy
Ann Neurol 31:174-183, Snowden,J.S.,et al, 1992
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Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992
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Medicine 70:15-32, Singer,H.S.&Walkup,J.T., 1991
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NEJM 393:281-288, Hagerman,R.H. & Hagerman,P.J., 2025
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Neurol 103:e2098-e2030, Jones,F.J.S. & Orthmann-Murphy,J., 2024
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Neurol 103:e209844, Dhawan,A.,et al, 2024
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Neurol 104:e210267, Hoffman,E.P. and Kesari,A., 2024
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Neurol 104:e210252, Bernardes,C.,et al, 2024
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Neurol 100:206-212, Stamm,B.,et al, 2023
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Neurol 100:631-637, Zeng,T.f.,et al, 2023
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NEJM 388:1692-1700, Ropper.A.H., 2023
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JAMA Neurol 79:405-413, Morton, S.U.,et al, 2022
More Than a Little Unsteady
NEJM 387:e9, Kraft, A.W.,et al, 2022
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UpToDate, Oct, Bodamer,O.A., 2022
The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022
A Middle-aged Woman with Severe Scoliosis and Encephalopathy
JAMA Neurol 78:251-252, Mohan, G.,et al, 2021
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Lancet 397:1577-1590, Scheltens, P.,et al, 2021
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BMJ 368:L7012, Fox, H.,et al, 2020
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Neurol 92:101-103, Kang, M.J.,et al, 2019
"Ears of the Lynx" MRI Sign is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia
AJNR 40:199-203, Pascual, B.,et al, 2019
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BMJ 366:I4966, Ghali, N.,et al, 2019
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Lancet 394:2025-2038, Mercuri, E.,et al, 2019
Neurodegeneration with Brain Iron Accumulation
AIAN 22:267-276, Batla, A. & Gaddipati, C., 2019
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Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019
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Making Sense of the Clinical Spectrum of Limb Girdle Muscular Dystrophies
Pract Neurol 18:201-210, Khadilkar,S.V.,et al, 2018
Personality Changes, Executive Dysfunction, and Motor and Memory Impairment
JAMA Neurol 74:245-246, Lopez Chiriboga, A.S.,et al, 2017
Clinicopathologic Conference, Vascular Malformations in Liver, Stomach, Esophagus, and Lungs that are Consistent with Hereditary Hemorrhagic Telangiectasia, Complicated
NEJM 376:972-980, Case 7-2017, 2017
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AJNR 38:1467-1474, Bond, K.M.,et al, 2017
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UptoDate Dec 2017, Oksana Suchowersky, 2017
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Neurol 85:459-463, Sekine, Y., etal, 2015
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Lancet 383:896-910, Lai, M.C.,et al, 2014
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JAMA 71:499-504, Thenganatt, M. & Jankovic, J., 2014
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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Adams & Victors Principles of Neurology, Chp 39, pg 1063, Ropper, A.H.,et al, 2014
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Neuro Clin 32:729-749, Wicklund, M.P. and Kissel, J.T., 2014
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Lancet 382:1514, Antunes, H.,et al, 2013
Brain Arteriovenous Malformation Multiplicity Predicts the Diagnosis of Hereditary Hemorrhagic Telangiectasia Quantitive Assessment
Stroke 43:72-78, Bharatha, A.,et al, 2012
Range of Genetic Mutations Associated with Severe Non-Syndromic Sporadic Intellectual Disability: An Exome Sequencing Study
Lancet 380:1674-1682, Rauch, A.,et al, 2012
Diagnostic Exome, Sequencing in Persons with Severe Intellectual Disability
NEJM 367:1921-1929, Ligt, J.,et al, 2012
Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
NEJM 367:1921-1929, Ligt, J.,et al, 2012
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UpToDate, Feb, Shovlin, C., 2011