Houlden H - Search Results

1

iPSC-derived neuronal models of PANK2-associated neurodegeneration reveal mitochondrial dysfunction contributing to early disease.

Arber C, Angelova PR, Wiethoff S, Tsuchiya Y, Mazzacuva F, Preza E, Bhatia KP, Mills K, Gout I, Abramov AY, Hardy J, Duce JA, Houlden H, Wray S. Arber C, et al. Among authors: houlden h. PLoS One. 2017 Sep 1;12(9):e0184104. doi: 10.1371/journal.pone.0184104. eCollection 2017. PLoS One. 2017. PMID: 28863176 Free PMC article.

2

Compound heterozygous PANK2 mutations confirm HARP and Hallervorden-Spatz syndromes are allelic.

Houlden H, Lincoln S, Farrer M, Cleland PG, Hardy J, Orrell RW. Houlden H, et al. Neurology. 2003 Nov 25;61(10):1423-6. doi: 10.1212/01.wnl.0000094120.09977.92. Neurology. 2003. PMID: 14638969

3

Characterization of PLA2G6 as a locus for dystonia-parkinsonism.

Paisan-Ruiz C, Bhatia KP, Li A, Hernandez D, Davis M, Wood NW, Hardy J, Houlden H, Singleton A, Schneider SA. Paisan-Ruiz C, et al. Among authors: houlden h. Ann Neurol. 2009 Jan;65(1):19-23. doi: 10.1002/ana.21415. Ann Neurol. 2009. PMID: 18570303 Free PMC article.

4

Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease.

Neumann J, Bras J, Deas E, O'Sullivan SS, Parkkinen L, Lachmann RH, Li A, Holton J, Guerreiro R, Paudel R, Segarane B, Singleton A, Lees A, Hardy J, Houlden H, Revesz T, Wood NW. Neumann J, et al. Among authors: houlden h. Brain. 2009 Jul;132(Pt 7):1783-94. doi: 10.1093/brain/awp044. Epub 2009 Mar 13. Brain. 2009. PMID: 19286695 Free PMC article.

5

THAP1 mutations (DYT6) are an additional cause of early-onset dystonia.

Houlden H, Schneider SA, Paudel R, Melchers A, Schwingenschuh P, Edwards M, Hardy J, Bhatia KP. Houlden H, et al. Neurology. 2010 Mar 9;74(10):846-50. doi: 10.1212/WNL.0b013e3181d5276d. Neurology. 2010. PMID: 20211909 Free PMC article.

6

Human ataxias: a genetic dissection of inositol triphosphate receptor (ITPR1)-dependent signaling.

Schorge S, van de Leemput J, Singleton A, Houlden H, Hardy J. Schorge S, et al. Among authors: houlden h. Trends Neurosci. 2010 May;33(5):211-9. doi: 10.1016/j.tins.2010.02.005. Epub 2010 Mar 11. Trends Neurosci. 2010. PMID: 20226542 Free PMC article.

7

ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation.

Schneider SA, Paisan-Ruiz C, Quinn NP, Lees AJ, Houlden H, Hardy J, Bhatia KP. Schneider SA, et al. Among authors: houlden h. Mov Disord. 2010 Jun 15;25(8):979-84. doi: 10.1002/mds.22947. Mov Disord. 2010. PMID: 20310007

8

Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations.

Paisán-Ruiz C, Li A, Schneider SA, Holton JL, Johnson R, Kidd D, Chataway J, Bhatia KP, Lees AJ, Hardy J, Revesz T, Houlden H. Paisán-Ruiz C, et al. Among authors: houlden h. Neurobiol Aging. 2012 Apr;33(4):814-23. doi: 10.1016/j.neurobiolaging.2010.05.009. Epub 2010 Jul 21. Neurobiol Aging. 2012. PMID: 20619503 Free PMC article.

9

Indian-subcontinent NBIA: unusual phenotypes, novel PANK2 mutations, and undetermined genetic forms.

Aggarwal A, Schneider SA, Houlden H, Silverdale M, Paudel R, Paisan-Ruiz C, Desai S, Munshi M, Sanghvi D, Hardy J, Bhatia KP, Bhatt M. Aggarwal A, et al. Among authors: houlden h. Mov Disord. 2010 Jul 30;25(10):1424-31. doi: 10.1002/mds.23095. Mov Disord. 2010. PMID: 20629144

10

Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations.

Paisán-Ruiz C, Guevara R, Federoff M, Hanagasi H, Sina F, Elahi E, Schneider SA, Schwingenschuh P, Bajaj N, Emre M, Singleton AB, Hardy J, Bhatia KP, Brandner S, Lees AJ, Houlden H. Paisán-Ruiz C, et al. Among authors: houlden h. Mov Disord. 2010 Sep 15;25(12):1791-800. doi: 10.1002/mds.23221. Mov Disord. 2010. PMID: 20669327 Free PMC article.

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