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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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1999 | 1 |
2003 | 1 |
2009 | 1 |
2015 | 1 |
2016 | 1 |
2024 | 0 |
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High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2.
Neurology. 1999 Jun 10;52(9):1816-21. doi: 10.1212/wnl.52.9.1816.
Neurology. 1999.
PMID: 10371528
CACNA1A nonsense mutation is associated with basilar-type migraine and episodic ataxia type 2.
Robbins MS, Lipton RB, Laureta EC, Grosberg BM.
Robbins MS, et al.
Headache. 2009 Jul;49(7):1042-6. doi: 10.1111/j.1526-4610.2009.01464.x. Epub 2009 May 27.
Headache. 2009.
PMID: 19486177
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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.
Damaj L, et al.
Eur J Hum Genet. 2015 Nov;23(11):1505-12. doi: 10.1038/ejhg.2015.21. Epub 2015 Mar 4.
Eur J Hum Genet. 2015.
PMID: 25735478
Free PMC article.
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Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.
Reinson K, Õiglane-Shlik E, Talvik I, Vaher U, Õunapuu A, Ennok M, Teek R, Pajusalu S, Murumets Ü, Tomberg T, Puusepp S, Piirsoo A, Reimand T, Õunap K.
Reinson K, et al.
Am J Med Genet A. 2016 Aug;170(8):2173-6. doi: 10.1002/ajmg.a.37678. Epub 2016 Jun 2.
Am J Med Genet A. 2016.
PMID: 27250579
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A novel insertion mutation of acetazolamide-responsive episodic ataxia in a Japanese family.
Matsuyama Z, Murase M, Shimizu H, Aoki Y, Hayashi M, Hozumi I, Inuzuka T.
Matsuyama Z, et al.
J Neurol Sci. 2003 Jun 15;210(1-2):91-3. doi: 10.1016/s0022-510x(03)00008-x.
J Neurol Sci. 2003.
PMID: 12736095
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