PMC Links for Nucleotide (Select 1519243698) - PMC

Select item 66364401.

KIF5A Promotes Bladder Cancer Proliferation In Vitro and In Vivo

Da-Wei Tian, Zhou-Liang Wu, Li-Ming Jiang, Jie Gao, Chang-Li Wu, Hai-Long Hu

Dis Markers. 2019; 2019: 4824902. Published online 2019 Jul 3. doi: 10.1155/2019/4824902

PMCID:: PMC6636440

Select item 61194892.

Genome sequencing uncovers phenocopies in primary progressive multiple sclerosis

Xiaoming Jia, Lohith Madireddy, Stacy Caillier, Adam Santaniello, Federica Esposito, Giancarlo Comi, Olaf Stuve, Yuan Zhou, Bruce Taylor, Trevor Kilpatrick, Filippo Martinelli‐Boneschi, Bruce A.C. Cree, Jorge R. Oksenberg, Stephen L. Hauser, Sergio E Baranzini

Ann Neurol. 2018 Jul; 84(1): 51–63. Published online 2018 Jul 3. doi: 10.1002/ana.25263

PMCID:: PMC6119489

Abstract Article PDF–2.0M

Select item 21561253.

Defective Kinesin Heavy Chain Behavior in Mouse Kinesin Light Chain Mutants

Amena Rahman, Adeela Kamal, Elizabeth A. Roberts, Lawrence S.B. Goldstein

J Cell Biol. 1999 Sep 20; 146(6): 1277–1288. doi: 10.1083/jcb.146.6.1277

PMCID:: PMC2156125

Abstract Article PDF–1.1M

Select item 13779834.

A new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity.

E Reid, A M Dearlove, M Rhodes, D C Rubinsztein

Am J Hum Genet. 1999 Sep; 65(3): 757–763. doi: 10.1086/302555

PMCID:: PMC1377983

Summary PDF–227K

Select item 67073355.

Comprehensive Genetic Analysis of a Hungarian Amyotrophic Lateral Sclerosis Cohort

Kornélia Tripolszki, Piyush Gampawar, Helena Schmidt, Zsófia F. Nagy, Dóra Nagy, Péter Klivényi, József I. Engelhardt, Márta Széll

Front Genet. 2019; 10: 732. Published online 2019 Aug 16. doi: 10.3389/fgene.2019.00732

PMCID:: PMC6707335

Abstract Article PDF–1.0M

Select item 58374836.

Hot-spot KIF5A mutations cause familial ALS

David Brenner, Rüstem Yilmaz, Kathrin Müller, Torsten Grehl, Susanne Petri, Thomas Meyer, Julian Grosskreutz, Patrick Weydt, Wolfgang Ruf, Christoph Neuwirth, Markus Weber, Susana Pinto, Kristl G Claeys, Berthold Schrank, Berit Jordan, Antje Knehr, Kornelia Günther, Annemarie Hübers, Daniel Zeller, Christian Kubisch, Sibylle Jablonka, Michael Sendtner, Thomas Klopstock, Mamede de Carvalho, Anne Sperfeld, Guntram Borck, Alexander E Volk, Johannes Dorst, Joachim Weis, Markus Otto, Joachim Schuster, Kelly Del Tredici, Heiko Braak, Karin M Danzer, Axel Freischmidt, Thomas Meitinger, Tim M Strom, Albert C Ludolph, Peter M Andersen, Jochen H Weishaupt, The German ALS network MND-NET

Brain. 2018 Mar; 141(3): 688–697. Published online 2018 Jan 12. doi: 10.1093/brain/awx370

PMCID:: PMC5837483

Abstract Article PDF–580K

Select item 46889557.

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

David S Lynch, Georgios Koutsis, Arianna Tucci, Marios Panas, Markella Baklou, Marianthi Breza, Georgia Karadima, Henry Houlden

Eur J Hum Genet. 2016 Jun; 24(6): 857–863. Published online 2015 Sep 16. doi: 10.1038/ejhg.2015.200

PMCID:: PMC4688955

Abstract Article PDF–859K

Select item 41419948.

Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy

Yo-Tsen Liu, Matilde Laurá, Joshua Hersheson, Alejandro Horga, Zane Jaunmuktane, Sebastian Brandner, Alan Pittman, Deborah Hughes, James M. Polke, Mary G. Sweeney, Christos Proukakis, John C. Janssen, Michaela Auer-Grumbach, Stephan Zuchner, Kevin G. Shields, Mary M. Reilly, Henry Houlden

Neurology. 2014 Aug 12; 83(7): 612–619. doi: 10.1212/WNL.0000000000000691

PMCID:: PMC4141994

Abstract Article PDF–965K

Select item 29545849.

Mendelian bases of myopathies, cardiomyopathies, and neuromyopathies

G Piluso, S Aurino, M Cacciottolo, F Del Vecchio Blanco, A Lancioni, IL Rotundo, A Torella, V Nigro

Acta Myol. 2010 Jul; 29(1): 1–20.

PMCID:: PMC2954584

Abstract Article PDF–699K

Select item 38509510.

A Kinesin Heavy Chain (KIF5A) Mutation in Hereditary Spastic Paraplegia (SPG10)

Evan Reid, Mark Kloos, Allison Ashley-Koch, Lori Hughes, Simon Bevan, Ingrid K. Svenson, Felicia Lennon Graham, Perry C. Gaskell, Andrew Dearlove, Margaret A. Pericak-Vance, David C. Rubinsztein, Douglas A. Marchuk

Am J Hum Genet. 2002 Nov; 71(5): 1189–1194. Published online 2002 Sep 24. doi: 10.1086/344210

PMCID:: PMC385095

Abstract Article PDF–197K

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