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Items: 11

1.

Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes.

Kumar KR, Davis RL, Tchan MC, Wali GM, Mahant N, Ng K, Kotschet K, Siow SF, Gu J, Walls Z, Kang C, Wali G, Levy S, Phua CS, Yiannikas C, Darveniza P, Chang FCF, Morales-Briceño H, Rowe DB, Drew A, Gayevskiy V, Cowley MJ, Minoche AE, Tisch S, Hayes M, Kummerfeld S, Fung VSC, Sue CM.

Parkinsonism Relat Disord. 2019 Dec;69:111-118. doi: 10.1016/j.parkreldis.2019.11.004. Epub 2019 Nov 7.

2.

A Novel Homozygous Mutation in the FUCA1 Gene Highlighting Fucosidosis as a Cause of Dystonia: Case Report and Literature Review.

Wali G, Wali GM, Sue CM, Kumar KR.

Neuropediatrics. 2019 Aug;50(4):248-252. doi: 10.1055/s-0039-1684052. Epub 2019 May 7.

PMID:
31064022
3.

Expanding the spectrum of PEX16 mutations and novel insights into disease mechanisms.

Kumar KR, Wali G, Davis RL, Mallawaarachchi AC, Palmer EE, Gayevskiy V, Minoche AE, Veivers D, Dinger ME, Mackay-Sim A, Cowley MJ, Sue CM.

Mol Genet Metab Rep. 2018 Jul 20;16:46-51. doi: 10.1016/j.ymgmr.2018.07.003. eCollection 2018 Sep.

4.

Patient-Derived Stem Cell Models in SPAST HSP: Disease Modelling and Drug Discovery.

Wali G, Sue CM, Mackay-Sim A.

Brain Sci. 2018 Jul 31;8(8). pii: E142. doi: 10.3390/brainsci8080142. Review.

5.

A Patient-Specific Stem Cell Model to Investigate the Neurological Phenotype Observed in Ataxia-Telangiectasia.

Stewart R, Wali G, Perry C, Lavin MF, Féron F, Mackay-Sim A, Sutharsan R.

Methods Mol Biol. 2017;1599:391-400. doi: 10.1007/978-1-4939-6955-5_28.

PMID:
28477134
6.

Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing.

Kumar KR, Wali GM, Kamate M, Wali G, Minoche AE, Puttick C, Pinese M, Gayevskiy V, Dinger ME, Roscioli T, Sue CM, Cowley MJ.

Neurogenetics. 2016 Oct;17(4):265-270. Epub 2016 Sep 28.

7.

Mechanism of impaired microtubule-dependent peroxisome trafficking and oxidative stress in SPAST-mutated cells from patients with Hereditary Spastic Paraplegia.

Wali G, Sutharsan R, Fan Y, Stewart R, Tello Velasquez J, Sue CM, Crane DI, Mackay-Sim A.

Sci Rep. 2016 May 27;6:27004. doi: 10.1038/srep27004.

8.

A patient-derived stem cell model of hereditary spastic paraplegia with SPAST mutations.

Abrahamsen G, Fan Y, Matigian N, Wali G, Bellette B, Sutharsan R, Raju J, Wood SA, Veivers D, Sue CM, Mackay-Sim A.

Dis Model Mech. 2015 Oct 1;8(10):1339. doi: 10.1242/dmm.023002. No abstract available.

9.

Low dose tubulin-binding drugs rescue peroxisome trafficking deficit in patient-derived stem cells in Hereditary Spastic Paraplegia.

Fan Y, Wali G, Sutharsan R, Bellette B, Crane DI, Sue CM, Mackay-Sim A.

Biol Open. 2014 May 23;3(6):494-502. doi: 10.1242/bio.20147641.

10.

A patient-derived olfactory stem cell disease model for ataxia-telangiectasia.

Stewart R, Kozlov S, Matigian N, Wali G, Gatei M, Sutharsan R, Bellette B, Wraith-Kijas A, Cochrane J, Coulthard M, Perry C, Sinclair K, Mackay-Sim A, Lavin MF.

Hum Mol Genet. 2013 Jun 15;22(12):2495-509. doi: 10.1093/hmg/ddt101. Epub 2013 Mar 7.

PMID:
23474819
11.

A patient-derived stem cell model of hereditary spastic paraplegia with SPAST mutations.

Abrahamsen G, Fan Y, Matigian N, Wali G, Bellette B, Sutharsan R, Raju J, Wood SA, Veivers D, Sue CM, Mackay-Sim A.

Dis Model Mech. 2013 Mar;6(2):489-502. doi: 10.1242/dmm.010884. Epub 2012 Dec 20. Erratum in: Dis Model Mech. 2015 Oct 1;8(10):1339.

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