Lynch DS - Search Results

1

Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing.

Lynch DS, Koutsis G, Tucci A, Panas M, Baklou M, Breza M, Karadima G, Houlden H. Lynch DS, et al. Eur J Hum Genet. 2016 Jun;24(6):857-63. doi: 10.1038/ejhg.2015.200. Epub 2015 Sep 16. Eur J Hum Genet. 2016. PMID: 26374131 Free PMC article.

2

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.

3

Charcot-Marie-Tooth disease type 2C and scapuloperoneal muscular atrophy overlap syndrome in a patient with the R232C TRPV4 mutation.

Koutsis G, Lynch D, Manole A, Karadima G, Reilly MM, Houlden H, Panas M. Koutsis G, et al. J Neurol. 2015 Aug;262(8):1972-5. doi: 10.1007/s00415-015-7800-x. Epub 2015 Jun 6. J Neurol. 2015. PMID: 26048687 No abstract available.

4

A novel ABCD1 mutation detected by next generation sequencing in presumed hereditary spastic paraplegia: A 30-year diagnostic delay caused by misleading biochemical findings.

Koutsis G, Lynch DS, Tucci A, Houlden H, Karadima G, Panas M. Koutsis G, et al. Among authors: lynch ds. J Neurol Sci. 2015 Aug 15;355(1-2):199-201. doi: 10.1016/j.jns.2015.05.031. Epub 2015 May 29. J Neurol Sci. 2015. PMID: 26049658

5

Erratum to: Charcot-Marie-Tooth disease type 2C and scapuloperoneal muscular atrophy overlap syndrome in a patient with the R232C TRPV4 mutation.

Koutsis G, Lynch D, Manole A, Karadima G, Reilly MM, Houlden H, Panas M. Koutsis G, et al. J Neurol. 2015 Aug;262(8):1976. doi: 10.1007/s00415-015-7846-9. J Neurol. 2015. PMID: 26162716 No abstract available.

6

Triple trouble: a striking new phenotype or competing genes in a family with hereditary spastic paraplegia.

Chelban V, Lynch DS, Houlden H, Wood N. Chelban V, et al. Among authors: lynch ds. J Neurol. 2016 Jun;263(6):1232-3. doi: 10.1007/s00415-016-8103-6. Epub 2016 Mar 30. J Neurol. 2016. PMID: 27025852 No abstract available.

7

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.

8

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.

9

Late-onset Lafora disease with prominent parkinsonism due to a rare mutation in EPM2A.

Lynch DS, Wood NW, Houlden H. Lynch DS, et al. Neurol Genet. 2016 Aug 16;2(5):e101. doi: 10.1212/NXG.0000000000000101. eCollection 2016 Oct. Neurol Genet. 2016. PMID: 27574708 Free PMC article.

10

Analysis of Mutations in AARS2 in a Series of CSF1R-Negative Patients With Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia.

Lynch DS, Zhang WJ, Lakshmanan R, Kinsella JA, Uzun GA, Karbay M, Tüfekçioglu Z, Hanagasi H, Burke G, Foulds N, Hammans SR, Bhattacharjee A, Wilson H, Adams M, Walker M, Nicoll JA, Chataway J, Fox N, Davagnanam I, Phadke R, Houlden H. Lynch DS, et al. JAMA Neurol. 2016 Dec 1;73(12):1433-1439. doi: 10.1001/jamaneurol.2016.2229. JAMA Neurol. 2016. PMID: 27749956

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