PMC Links for Books (Select 1463034) - PMC

Select item 90166261.

Characterisation of PLA2G6 as a locus for dystonia-parkinsonism

Coro Paisan-Ruiz, Kailash P Bhatia, Abi Li, Dena Hernandez, Mary Davis, Nick W Wood, John Hardy, Henry Houlden, Andrew Singleton, Susanne A Schneider

Ann Neurol. Author manuscript; available in PMC 2022 Apr 19.

Published in final edited form as: Ann Neurol. 2009 Jan; 65(1): 19–23. doi: 10.1002/ana.21415

PMCID:: PMC9016626

Abstract Article PDF–279K

Select item 61830172.

Atypical PLA2G6‐Associated Neurodegeneration: Social Communication Impairment, Dystonia and Response to Deep Brain Stimulation

Laura Cif, Manju A. Kurian, Victoria Gonzalez, Sara Garcia‐Ptacek, Thomas Roujeau, Philippe Gelisse, Ana Maria Moura de Ribeiro, Arielle Crespel, Lesley MacPherson, Philippe Coubes

Mov Disord Clin Pract. 2014 Jun; 1(2): 128–131. Published online 2014 May 23. doi: 10.1002/mdc3.12030

PMCID:: PMC6183017

Article PDF–196K

Select item 60057053.

Early-Onset L-dopa-Responsive Parkinsonism with Pyramidal Signs Due to ATP13A2, PLA2G6, FBXO7 and Spatacsin Mutations

Coro Paisán-Ruiz, Rocio Guevara, Monica Federoff, Hasmet Hanagasi, Fardaz Sina, Elahe Elahi, Susanne A. Schneider, Petra Schwingenschuh, Nin Bajaj, Murat Emre, Andrew B. Singleton, John Hardy, Kailash P. Bhatia, Sebastian Brandner, Andrew J. Lees, Henry Houlden

Mov Disord. Author manuscript; available in PMC 2018 Jun 18.

Published in final edited form as: Mov Disord. 2010 Sep 15; 25(12): 1791–1800. doi: 10.1002/mds.23221

PMCID:: PMC6005705

Abstract Article PDF–525K

Select item 47855354.

Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy

Toshiyuki Yamamoto, Keiko Shimojima, Takashi Shibata, Mari Akiyama, Makio Oka, Tomoyuki Akiyama, Harumi Yoshinaga, Katsuhiro Kobayashi

Hum Genome Var. 2015; 2: 15048. Published online 2015 Nov 19. doi: 10.1038/hgv.2015.48

PMCID:: PMC4785535

Abstract Article PDF–1.4M

Select item 45039635.

PLA2G6-associated Dystonia–Parkinsonism: Case Report and Literature Review

Siamak Karkheiran, Gholam Ali Shahidi, Ruth H. Walker, Coro Paisán-Ruiz

Tremor Other Hyperkinet Mov (N Y) 2015; 5: 317. Published online 2015 Jul 10. doi: 10.7916/D84Q7T4W

PMCID:: PMC4503963

Abstract Article PDF–1.4M

Select item 40485466.

PLA2G6-associated neurodegeneration (PLAN): Further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease

M.A. Illingworth, E. Meyer, W.K. Chong, A.Y. Manzur, L.J. Carr, R. Younis, C. Hardy, F. McDonald, A.M. Childs, B. Stewart, D. Warren, R. Kneen, M.D. King, S.J. Hayflick, M.A. Kurian

Mol Genet Metab. 2014 Jun; 112(2): 183–189. doi: 10.1016/j.ymgme.2014.03.008

PMCID:: PMC4048546

Abstract Article PDF–724K

Select item 36576967.

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

Coro Paisán-Ruiz, Abi Li, Susanne A. Schneider, Janice L. Holton, Robert Johnson, Desmond Kidd, Jeremy Chataway, Kailash P. Bhatia, Andrew J. Lees, John Hardy, Tamas Revesz, Henry Houlden

Neurobiol Aging. 2012 Apr; 33(4): 814–823. doi: 10.1016/j.neurobiolaging.2010.05.009

PMCID:: PMC3657696

Abstract Article

Select item 29525578.

Imaging decreased brain docosahexaenoic acid metabolism and signaling in iPLA₂β (VIA)-deficient mice

Mireille Basselin, Angelo O. Rosa, Epolia Ramadan, Yewon Cheon, Lisa Chang, Mei Chen, Deanna Greenstein, Mary Wohltmann, John Turk, Stanley I. Rapoport

J Lipid Res. 2010 Nov; 51(11): 3166–3173. doi: 10.1194/jlr.M008334

PMCID:: PMC2952557

Abstract Article PDF–743K

Select item 29448209.

Catalytic Function of PLA2G6 Is Impaired by Mutations Associated with Infantile Neuroaxonal Dystrophy but Not Dystonia-Parkinsonism

Laura A. Engel, Zheng Jing, Daniel E. O'Brien, Mengyang Sun, Paul T. Kotzbauer

PLoS One. 2010; 5(9): e12897. Published online 2010 Sep 23. doi: 10.1371/journal.pone.0012897

PMCID:: PMC2944820

Abstract Article PDF–340K

Select item 267696410.

Neurodegeneration associated with genetic defects in phospholipase A₂

A Gregory, S K. Westaway, I E. Holm, P T. Kotzbauer, P Hogarth, S Sonek, J C. Coryell, T M. Nguyen, N Nardocci, G Zorzi, D Rodriguez, I Desguerre, E Bertini, A Simonati, B Levinson, C Dias, C Barbot, I Carrilho, M Santos, I Malik, J Gitschier, S J. Hayflick

Neurology. 2008 Oct 28; 71(18): 1402–1409. doi: 10.1212/01.wnl.0000327094.67726.28

PMCID:: PMC2676964

Abstract Article PDF–1.8M

Select item 259791911.

Mutations in PLA2G6 and the riddle of Schindler disease

S K Westaway, A Gregory, S J Hayflick, S J Hayflick

J Med Genet. 2007 Jan; 44(1): e64. doi: 10.1136/jmg.2006.044966

PMCID:: PMC2597919

Article PDF–75K

Select item 211732812.

PLA2G6, encoding a phospholipase A₂, is mutated in neurodegenerative disorders with high brain iron

Neil V Morgan, Shawn K Westaway, Jenny E V Morton, Allison Gregory, Paul Gissen, Scott Sonek, Hakan Cangul, Jason Coryell, Natalie Canham, Nardo Nardocci, Giovanna Zorzi, Shanaz Pasha, Diana Rodriguez, Isabelle Desguerre, Amar Mubaidin, Enrico Bertini, Richard C Trembath, Alessandro Simonati, Carolyn Schanen, Colin A Johnson, Barbara Levinson, C Geoffrey Woods, Beth Wilmot, Patricia Kramer, Jane Gitschier, Eamonn R Maher, Susan J Hayflick

Nat Genet. Author manuscript; available in PMC 2007 Dec 5.

Published in final edited form as: Nat Genet. 2006 Jul; 38(7): 752–754. Published online 2006 Jun 18. doi: 10.1038/ng1826

Correction in:: volume 38 on page 957

PMCID:: PMC2117328

Abstract Article PDF–452K

Select item 173551313.

Karak syndrome: a novel degenerative disorder of the basal ganglia and cerebellum

A Mubaidin, E Roberts, D Hampshire, M Dehyyat, A Shurbaji, M Mubaidien, A Jamil, A Al-Din, A Kurdi, C Woods

J Med Genet. 2003 Jul; 40(7): 543–546. doi: 10.1136/jmg.40.7.543

PMCID:: PMC1735513

Summary PDF–193K

Select item 105063014.

Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype.

J L Keulemans, A J Reuser, M A Kroos, R Willemsen, M M Hermans, A M van den Ouweland, J G de Jong, R A Wevers, W O Renier, D Schindler, M J Coll, A Chabas, H Sakuraba, Y Suzuki, O P van Diggelen

J Med Genet. 1996 Jun; 33(6): 458–464. doi: 10.1136/jmg.33.6.458

PMCID:: PMC1050630

Summary Page Browse PDF–1.9M

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