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Items: 1 to 20 of 51

1.

Genetic susceptibility in Juvenile Myoclonic Epilepsy: Systematic review of genetic association studies.

Santos BPD, Marinho CRM, Marques TEBS, Angelo LKG, Malta MVDS, Duzzioni M, Castro OW, Leite JP, Barbosa FT, Gitaí DLG.

PLoS One. 2017 Jun 21;12(6):e0179629. doi: 10.1371/journal.pone.0179629. eCollection 2017.

2.

Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia.

Sintas C, Carreño O, Fernàndez-Castillo N, Corominas R, Vila-Pueyo M, Toma C, Cuenca-León E, Barroeta I, Roig C, Volpini V, Macaya A, Cormand B.

Sci Rep. 2017 May 31;7(1):2514. doi: 10.1038/s41598-017-02554-x.

3.

Generalized Epilepsy and Myoclonic Seizures in 22q11.2 Deletion Syndrome.

Strehlow V, Swinkels ME, Thomas RH, Rapps N, Syrbe S, Dorn T, Lemke JR.

Mol Syndromol. 2016 Sep;7(4):239-246. Epub 2016 Aug 24.

4.

Episodic Ataxias: Clinical and Genetic Features.

Choi KD, Choi JH.

J Mov Disord. 2016 Sep;9(3):129-35. doi: 10.14802/jmd.16028. Epub 2016 Sep 21. Review.

5.

Loss of the calcium channel β4 subunit impairs parallel fibre volley and Purkinje cell firing in cerebellum of adult ataxic mice.

Benedetti B, Benedetti A, Flucher BE.

Eur J Neurosci. 2016 Jun;43(11):1486-98. doi: 10.1111/ejn.13241. Epub 2016 Apr 18.

6.

A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia.

Morino H, Matsuda Y, Muguruma K, Miyamoto R, Ohsawa R, Ohtake T, Otobe R, Watanabe M, Maruyama H, Hashimoto K, Kawakami H.

Mol Brain. 2015 Dec 29;8:89. doi: 10.1186/s13041-015-0180-4.

7.

Genetic disruption of voltage-gated calcium channels in psychiatric and neurological disorders.

Heyes S, Pratt WS, Rees E, Dahimene S, Ferron L, Owen MJ, Dolphin AC.

Prog Neurobiol. 2015 Nov;134:36-54. doi: 10.1016/j.pneurobio.2015.09.002. Epub 2015 Sep 16. Review.

8.

Dysgraphia as a Mild Expression of Dystonia in Children with Absence Epilepsy.

Guerrini R, Melani F, Brancati C, Ferrari AR, Brovedani P, Biggeri A, Grisotto L, Pellacani S.

PLoS One. 2015 Jul 1;10(7):e0130883. doi: 10.1371/journal.pone.0130883. eCollection 2015.

9.

Advances in imaging ultrastructure yield new insights into presynaptic biology.

Bruckner JJ, Zhan H, O'Connor-Giles KM.

Front Cell Neurosci. 2015 May 22;9:196. doi: 10.3389/fncel.2015.00196. eCollection 2015. Review.

10.

Novel carboxypeptidase A6 (CPA6) mutations identified in patients with juvenile myoclonic and generalized epilepsy.

Sapio MR, Vessaz M, Thomas P, Genton P, Fricker LD, Salzmann A.

PLoS One. 2015 Apr 13;10(4):e0123180. doi: 10.1371/journal.pone.0123180. eCollection 2015.

11.

CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.

Damaj L, Lupien-Meilleur A, Lortie A, Riou É, Ospina LH, Gagnon L, Vanasse C, Rossignol E.

Eur J Hum Genet. 2015 Nov;23(11):1505-12. doi: 10.1038/ejhg.2015.21. Epub 2015 Mar 4.

12.

Defective fast inactivation recovery of Nav 1.4 in congenital myasthenic syndrome.

Arnold WD, Feldman DH, Ramirez S, He L, Kassar D, Quick A, Klassen TL, Lara M, Nguyen J, Kissel JT, Lossin C, Maselli RA.

Ann Neurol. 2015 May;77(5):840-50. doi: 10.1002/ana.24389. Epub 2015 Mar 27.

13.
14.

Ataxia.

Akbar U, Ashizawa T.

Neurol Clin. 2015 Feb;33(1):225-48. doi: 10.1016/j.ncl.2014.09.004. Review.

15.

Generation of a neuro-specific microarray reveals novel differentially expressed noncoding RNAs in mouse models for neurodegenerative diseases.

Gstir R, Schafferer S, Scheideler M, Misslinger M, Griehl M, Daschil N, Humpel C, Obermair GJ, Schmuckermair C, Striessnig J, Flucher BE, Hüttenhofer A.

RNA. 2014 Dec;20(12):1929-43. doi: 10.1261/rna.047225.114. Epub 2014 Oct 24.

16.

Genes and genetic testing in hereditary ataxias.

Sandford E, Burmeister M.

Genes (Basel). 2014 Jul 22;5(3):586-603. doi: 10.3390/genes5030586.

17.

Regulation of high-voltage-activated Ca2+ channel function, trafficking, and membrane stability by auxiliary subunits.

Felix R, Calderón-Rivera A, Andrade A.

Wiley Interdiscip Rev Membr Transp Signal. 2013 Sep 1;2(5):207-220.

18.
19.

Copy number variation plays an important role in clinical epilepsy.

Olson H, Shen Y, Avallone J, Sheidley BR, Pinsky R, Bergin AM, Berry GT, Duffy FH, Eksioglu Y, Harris DJ, Hisama FM, Ho E, Irons M, Jacobsen CM, James P, Kothare S, Khwaja O, Lipton J, Loddenkemper T, Markowitz J, Maski K, Megerian JT, Neilan E, Raffalli PC, Robbins M, Roberts A, Roe E, Rollins C, Sahin M, Sarco D, Schonwald A, Smith SE, Soul J, Stoler JM, Takeoka M, Tan WH, Torres AR, Tsai P, Urion DK, Weissman L, Wolff R, Wu BL, Miller DT, Poduri A.

Ann Neurol. 2014 Jun;75(6):943-58. doi: 10.1002/ana.24178. Epub 2014 Jun 13.

20.

Differential neuronal targeting of a new and two known calcium channel β4 subunit splice variants correlates with their regulation of gene expression.

Etemad S, Obermair GJ, Bindreither D, Benedetti A, Stanika R, Di Biase V, Burtscher V, Koschak A, Kofler R, Geley S, Wille A, Lusser A, Flockerzi V, Flucher BE.

J Neurosci. 2014 Jan 22;34(4):1446-61. doi: 10.1523/JNEUROSCI.3935-13.2014.

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