Waters MF - Search Results

1

An autosomal dominant ataxia maps to 19q13: Allelic heterogeneity of SCA13 or novel locus?

Waters MF, Fee D, Figueroa KP, Nolte D, Müller U, Advincula J, Coon H, Evidente VG, Pulst SM. Waters MF, et al. Neurology. 2005 Oct 11;65(7):1111-3. doi: 10.1212/01.wnl.0000177490.05162.41. Epub 2005 Aug 31. Neurology. 2005. PMID: 16135769

2

Sca13.

Waters MF, Pulst SM. Waters MF, et al. Cerebellum. 2008;7(2):165-9. doi: 10.1007/s12311-008-0039-7. Cerebellum. 2008. PMID: 18592334

3

Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes.

Waters MF, Minassian NA, Stevanin G, Figueroa KP, Bannister JP, Nolte D, Mock AF, Evidente VG, Fee DB, Müller U, Dürr A, Brice A, Papazian DM, Pulst SM. Waters MF, et al. Nat Genet. 2006 Apr;38(4):447-51. doi: 10.1038/ng1758. Epub 2006 Feb 26. Nat Genet. 2006. PMID: 16501573

4

Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13).

Figueroa KP, Waters MF, Garibyan V, Bird TD, Gomez CM, Ranum LP, Minassian NA, Papazian DM, Pulst SM. Figueroa KP, et al. Among authors: waters mf. PLoS One. 2011 Mar 29;6(3):e17811. doi: 10.1371/journal.pone.0017811. PLoS One. 2011. PMID: 21479265 Free PMC article.

5

Oculomotor and visual axis systems sparing in spinocerebellar ataxia type 13(R420H).

Waters MF, Subramony SH, Advincula J, Perlman S, Ashizawa T. Waters MF, et al. Neurology. 2012 Sep 11;79(11):1181-2. doi: 10.1212/WNL.0b013e3182698d5c. Epub 2012 Aug 29. Neurology. 2012. PMID: 22933745 Free PMC article. No abstract available.

6

Comprehensive phenotype of the p.Arg420his allelic form of spinocerebellar ataxia type 13.

Subramony SH, Advincula J, Perlman S, Rosales RL, Lee LV, Ashizawa T, Waters MF. Subramony SH, et al. Among authors: waters mf. Cerebellum. 2013 Dec;12(6):932-6. doi: 10.1007/s12311-013-0507-6. Cerebellum. 2013. PMID: 23912307 Free PMC article.

7

KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients.

Figueroa KP, Minassian NA, Stevanin G, Waters M, Garibyan V, Forlani S, Strzelczyk A, Bürk K, Brice A, Dürr A, Papazian DM, Pulst SM. Figueroa KP, et al. Hum Mutat. 2010 Feb;31(2):191-6. doi: 10.1002/humu.21165. Hum Mutat. 2010. PMID: 19953606 Free PMC article.

8

KCNC3(R420H), a K(+) channel mutation causative in spinocerebellar ataxia 13 displays aberrant intracellular trafficking.

Gallego-Iradi C, Bickford JS, Khare S, Hall A, Nick JA, Salmasinia D, Wawrowsky K, Bannykh S, Huynh DP, Rincon-Limas DE, Pulst SM, Nick HS, Fernandez-Funez P, Waters MF. Gallego-Iradi C, et al. Among authors: waters mf. Neurobiol Dis. 2014 Nov;71:270-9. doi: 10.1016/j.nbd.2014.08.020. Epub 2014 Aug 22. Neurobiol Dis. 2014. PMID: 25152487 Free PMC article.

9

Mutation in the kv3.3 voltage-gated potassium channel causing spinocerebellar ataxia 13 disrupts sound-localization mechanisms.

Middlebrooks JC, Nick HS, Subramony SH, Advincula J, Rosales RL, Lee LV, Ashizawa T, Waters MF. Middlebrooks JC, et al. Among authors: waters mf. PLoS One. 2013 Oct 7;8(10):e76749. doi: 10.1371/journal.pone.0076749. eCollection 2013. PLoS One. 2013. PMID: 24116147 Free PMC article.

10

Novel CCM1 mutation in a patient with paraparesis and thoracic cord cavernous malformation.

Waters MF, Shields DC, Martin NA, Baloh RW, Jen JC. Waters MF, et al. Neurology. 2005 Sep 27;65(6):966-7. doi: 10.1212/01.wnl.0000175976.95737.76. Neurology. 2005. PMID: 16186553 No abstract available.

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