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Items: 1 to 20 of 103

1.

Motor protein binding and mitochondrial transport are altered by pathogenic TUBB4A variants.

Vulinovic F, Krajka V, Hausrat TJ, Seibler P, Alvarez-Fischer D, Madoev H, Park JS, Kumar KR, Sue CM, Lohmann K, Kneussel M, Klein C, Rakovic A.

Hum Mutat. 2019 Dec;40(12):2444. doi: 10.1002/humu.23913. Epub 2019 Nov 4. No abstract available.

PMID:
31758849
2.

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.

3.

Motor Evoked Potentials in Hereditary Spastic Paraplegia-A Systematic Review.

Siow SF, Cameron Smail R, Ng K, Kumar KR, Sue CM.

Front Neurol. 2019 Sep 18;10:967. doi: 10.3389/fneur.2019.00967. eCollection 2019.

4.

The gut microbiota: A novel therapeutic target in Parkinson's disease?

Lubomski M, Davis RL, Sue CM.

Parkinsonism Relat Disord. 2019 Sep;66:265-266. doi: 10.1016/j.parkreldis.2019.08.010. Epub 2019 Aug 12. No abstract available.

PMID:
31445904
5.

Using global team science to identify genetic parkinson's disease worldwide.

Vollstedt EJ, Kasten M, Klein C; MJFF Global Genetic Parkinson's Disease Study Group.

Ann Neurol. 2019 Aug;86(2):153-157. doi: 10.1002/ana.25514. Epub 2019 Jun 26. No abstract available.

PMID:
31155756
6.

Increased Diagnostic Yield of Spastic Paraplegia with or Without Cerebellar Ataxia Through Whole-Genome Sequencing.

Kim A, Kumar KR, Davis RL, Mallawaarachchi AC, Gayevskiy V, Minoche AE, Walls Z, Kim HJ, Jang M, Cowley MJ, Choi JH, Shin C, Sue CM, Jeon B.

Cerebellum. 2019 Aug;18(4):781-790. doi: 10.1007/s12311-019-01038-0.

PMID:
31104286
7.

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
8.

Parkinson's disease and the gastrointestinal microbiome.

Lubomski M, Tan AH, Lim SY, Holmes AJ, Davis RL, Sue CM.

J Neurol. 2019 Apr 30. doi: 10.1007/s00415-019-09320-1. [Epub ahead of print] Review.

PMID:
31041582
9.

Genetic mimics of cerebral palsy.

Pearson TS, Pons R, Ghaoui R, Sue CM.

Mov Disord. 2019 May;34(5):625-636. doi: 10.1002/mds.27655. Epub 2019 Mar 26. Review.

PMID:
30913345
10.

How Do I Manage Patients With the Levodopa/Carbidopa Intestinal Gel?

Vijiaratnam N, Sue CM.

Mov Disord Clin Pract. 2018 Nov 15;6(2):181. doi: 10.1002/mdc3.12701. eCollection 2019 Feb.

11.

New insights into the complex role of mitochondria in Parkinson's disease.

Grünewald A, Kumar KR, Sue CM.

Prog Neurobiol. 2019 Jun;177:73-93. doi: 10.1016/j.pneurobio.2018.09.003. Epub 2018 Sep 13. Review.

12.

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.

13.

Motor protein binding and mitochondrial transport are altered by pathogenic TUBB4A variants.

Vulinovic F, Krajka V, Hausrat TJ, Seibler P, Alvarez-Fischer D, Madoev H, Park JS, Kumar KR, Sue CM, Lohmann K, Kneussel M, Klein C, Rakovic A.

Hum Mutat. 2018 Dec;39(12):1901-1915. doi: 10.1002/humu.23602. Epub 2018 Sep 7. Erratum in: Hum Mutat. 2019 Dec;40(12):2444.

PMID:
30079973
14.

High Degree of Genetic Heterogeneity for Hereditary Cerebellar Ataxias in Australia.

Kang C, Liang C, Ahmad KE, Gu Y, Siow SF, Colebatch JG, Whyte S, Ng K, Cremer PD, Corbett AJ, Davis RL, Roscioli T, Cowley MJ, Park JS, Sue CM, Kumar KR.

Cerebellum. 2019 Feb;18(1):137-146. doi: 10.1007/s12311-018-0969-7.

PMID:
30078120
15.

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.

16.

Levodopa-carbidopa intestinal gel: 'dismantling the road blocks of a journey'.

Vijiaratnam N, Sue CM.

Intern Med J. 2018 Apr;48(4):472-474. doi: 10.1111/imj.13757. Review.

PMID:
29623993
17.

Mitochondrial Dysfunction in Parkinson's Disease: New Mechanistic Insights and Therapeutic Perspectives.

Park JS, Davis RL, Sue CM.

Curr Neurol Neurosci Rep. 2018 Apr 3;18(5):21. doi: 10.1007/s11910-018-0829-3. Review.

18.

Single Heterozygous ATP13A2 Mutations Cause Cellular Dysfunction Associated with Parkinson's Disease.

Park JS, Koentjoro B, Klein C, Sue CM.

Mov Disord. 2018 May;33(5):852-854. doi: 10.1002/mds.27327. Epub 2018 Feb 14. No abstract available.

PMID:
29442384
19.

Mitochondrial diseases.

Davis RL, Liang C, Sue CM.

Handb Clin Neurol. 2018;147:125-141. doi: 10.1016/B978-0-444-63233-3.00010-5. Review.

PMID:
29325608
20.

Movement disorders in mitochondrial disease.

Ghaoui R, Sue CM.

J Neurol. 2018 May;265(5):1230-1240. doi: 10.1007/s00415-017-8722-6. Epub 2018 Jan 6. Review.

PMID:
29307008

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