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Practical approach to the diagnosis of adult-onset leukodystrophies: an updated guide in the genomic era.
Lynch DS, Wade C, Paiva ARB, John N, Kinsella JA, Merwick Á, Ahmed RM, Warren JD, Mummery CJ, Schott JM, Fox NC, Houlden H, Adams ME, Davagnanam I, Murphy E, Chataway J. Lynch DS, et al. J Neurol Neurosurg Psychiatry. 2019 May;90(5):543-554. doi: 10.1136/jnnp-2018-319481. Epub 2018 Nov 22. J Neurol Neurosurg Psychiatry. 2019. PMID: 30467211 Free PMC article. Review.
Hereditary leukoencephalopathy with axonal spheroids: a spectrum of phenotypes from CNS vasculitis to parkinsonism in an adult onset leukodystrophy series.
Lynch DS, Jaunmuktane Z, Sheerin UM, Phadke R, Brandner S, Milonas I, Dean A, Bajaj N, McNicholas N, Costello D, Cronin S, McGuigan C, Rossor M, Fox N, Murphy E, Chataway J, Houlden H. Lynch DS, et al. J Neurol Neurosurg Psychiatry. 2016 May;87(5):512-9. doi: 10.1136/jnnp-2015-310788. Epub 2015 May 2. J Neurol Neurosurg Psychiatry. 2016. PMID: 25935893 Free PMC article.
De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions.
Mencacci NE, Kamsteeg EJ, Nakashima K, R'Bibo L, Lynch DS, Balint B, Willemsen MA, Adams ME, Wiethoff S, Suzuki K, Davies CH, Ng J, Meyer E, Veneziano L, Giunti P, Hughes D, Raymond FL, Carecchio M, Zorzi G, Nardocci N, Barzaghi C, Garavaglia B, Salpietro V, Hardy J, Pittman AM, Houlden H, Kurian MA, Kimura H, Vissers LE, Wood NW, Bhatia KP. Mencacci NE, et al. Among authors: lynch ds. Am J Hum Genet. 2016 Apr 7;98(4):763-71. doi: 10.1016/j.ajhg.2016.02.015. Am J Hum Genet. 2016. PMID: 27058447 Free PMC article.
Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
Kara E, Tucci A, Manzoni C, Lynch DS, Elpidorou M, Bettencourt C, Chelban V, Manole A, Hamed SA, Haridy NA, Federoff M, Preza E, Hughes D, Pittman A, Jaunmuktane Z, Brandner S, Xiromerisiou G, Wiethoff S, Schottlaender L, Proukakis C, Morris H, Warner T, Bhatia KP, Korlipara LV, Singleton AB, Hardy J, Wood NW, Lewis PA, Houlden H. Kara E, et al. Among authors: lynch ds. Brain. 2016 Jul;139(Pt 7):1904-18. doi: 10.1093/brain/aww111. Epub 2016 May 23. Brain. 2016. PMID: 27217339 Free PMC article.
50 results