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Results: 1 to 20 of 47

Select item 233981961.

The epidemiology of intermittent and chronic ataxia in children in Manitoba, Canada.

Salman MS, Lee EJ, Tjahjadi A, Chodirker BN.

Dev Med Child Neurol. 2013 Apr;55(4):341-7. doi: 10.1111/dmcn.12081. Epub 2013 Feb 7.

PMID:: 23398196; [PubMed - indexed for MEDLINE]

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Select item 231264392.

Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences.

Labate A, Tarantino P, Viri M, Mumoli L, Gagliardi M, Romeo A, Zara F, Annesi G, Gambardella A.

Epilepsia. 2012 Dec;53(12):e196-9. doi: 10.1111/epi.12009. Epub 2012 Nov 5.

PMID:: 23126439; [PubMed - indexed for MEDLINE]

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Select item 231076473.

A point mutation associated with episodic ataxia 6 increases glutamate transporter anion currents.

Winter N, Kovermann P, Fahlke C.

Brain. 2012 Nov;135(Pt 11):3416-25. doi: 10.1093/brain/aws255. Epub 2012 Oct 29.

PMID:: 23107647; [PubMed - indexed for MEDLINE]

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Select item 230770244.

PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine.

Gardiner AR, Bhatia KP, Stamelou M, Dale RC, Kurian MA, Schneider SA, Wali GM, Counihan T, Schapira AH, Spacey SD, Valente EM, Silveira-Moriyama L, Teive HA, Raskin S, Sander JW, Lees A, Warner T, Kullmann DM, Wood NW, Hanna M, Houlden H.

Neurology. 2012 Nov 20;79(21):2115-21. doi: 10.1212/WNL.0b013e3182752c5a. Epub 2012 Oct 17.

PMID:: 23077024; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 229421645.

A novel CACNA1A mutation results in episodic ataxia with migrainous features without headache.

Magis D, Boon E, Coppola G, Daron A, Schoenen J.

Cephalalgia. 2012 Nov;32(15):1147-9. doi: 10.1177/0333102412459572. Epub 2012 Aug 31.

PMID:: 22942164; [PubMed - indexed for MEDLINE]

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Select item 224797536.

Familial episodic ataxia type II.

Mugundhan K, Thiruvarutchelvan K, Sivakumar S.

J Assoc Physicians India. 2011 Oct;59:668-70.

PMID:: 22479753; [PubMed - indexed for MEDLINE]

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Select item 222589157.

Principal component analysis of cerebellar shape on MRI separates SCA types 2 and 6 into two archetypal modes of degeneration.

Jung BC, Choi SI, Du AX, Cuzzocreo JL, Geng ZZ, Ying HS, Perlman SL, Toga AW, Prince JL, Ying SH.

Cerebellum. 2012 Dec;11(4):887-95. doi: 10.1007/s12311-011-0334-6.

PMID:: 22258915; [PubMed - indexed for MEDLINE]

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Select item 220009438.

Sleep benefit in a case of episodic ataxia.

Nagappa M, Mundlamuri RC, Satishchandra P, Pal PK.

Parkinsonism Relat Disord. 2012 Jun;18(5):662-3. doi: 10.1016/j.parkreldis.2011.09.018. Epub 2011 Oct 14. No abstract available.

PMID:: 22000943; [PubMed - indexed for MEDLINE]

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Select item 219509899.

The role of regularity and synchrony of cerebellar Purkinje cells for pathological nystagmus.

Glasauer S, Rössert C, Strupp M.

Ann N Y Acad Sci. 2011 Sep;1233:162-7. doi: 10.1111/j.1749-6632.2011.06149.x.

PMID:: 21950989; [PubMed - indexed for MEDLINE]

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Select item 2182792010.

Episodic ataxias 1 and 2.

Baloh RW.

Handb Clin Neurol. 2012;103:595-602. doi: 10.1016/B978-0-444-51892-7.00042-5. Review.

PMID:: 21827920; [PubMed - indexed for MEDLINE]

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Select item 2174999111.

Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation.

Synofzik M, Schicks J, Lindig T, Biskup S, Schmidt T, Hansel J, Lehmann-Horn F, Schöls L.

J Med Genet. 2011 Oct;48(10):713-5. doi: 10.1136/jmg.2011.090282. Epub 2011 Jul 11.

PMID:: 21749991; [PubMed - indexed for MEDLINE]

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Select item 2173417912.

A randomized trial of 4-aminopyridine in EA2 and related familial episodic ataxias.

Strupp M, Kalla R, Claassen J, Adrion C, Mansmann U, Klopstock T, Freilinger T, Neugebauer H, Spiegel R, Dichgans M, Lehmann-Horn F, Jurkat-Rott K, Brandt T, Jen JC, Jahn K.

Neurology. 2011 Jul 19;77(3):269-75. doi: 10.1212/WNL.0b013e318225ab07. Epub 2011 Jul 6.

PMID:: 21734179; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 2169651513.

New mutation of CACNA1A gene in episodic ataxia type 2.

Nikaido K, Tachi N, Ohya K, Wada T, Tsutsumi H.

Pediatr Int. 2011 Jun;53(3):415-6. doi: 10.1111/j.1442-200X.2011.03390.x. No abstract available.

PMID:: 21696515; [PubMed - indexed for MEDLINE]

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Select item 2144091314.

Dramatically different levels of Cacna1a gene expression between pre-weaning wild type and leaner mice.

Veneziano L, Albertosi S, Pesci D, Mantuano E, Frontali M, Jodice C.

J Neurol Sci. 2011 Jun 15;305(1-2):71-4. doi: 10.1016/j.jns.2011.03.010. Epub 2011 Mar 26.

PMID:: 21440913; [PubMed - indexed for MEDLINE]

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Select item 2132180815.

Candidate screening of the TRPC3 gene in cerebellar ataxia.

Becker EB, Fogel BL, Rajakulendran S, Dulneva A, Hanna MG, Perlman SL, Geschwind DH, Davies KE.

Cerebellum. 2011 Jun;10(2):296-9. doi: 10.1007/s12311-011-0253-6.

PMID:: 21321808; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 2130734516.

Episodic ataxia type 1 mutations affect fast inactivation of K+ channels by a reduction in either subunit surface expression or affinity for inactivation domain.

Imbrici P, D'Adamo MC, Grottesi A, Biscarini A, Pessia M.

Am J Physiol Cell Physiol. 2011 Jun;300(6):C1314-22. doi: 10.1152/ajpcell.00456.2010. Epub 2011 Feb 9.

PMID:: 21307345; [PubMed - indexed for MEDLINE]

Free Article

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Select item 2128259917.

Nongenetic factors influence severity of episodic ataxia type 1 in monozygotic twins.

Gilbert GJ, Graves TD, Kullmann DM.

Neurology. 2011 Feb 1;76(5):490; author reply 490. doi: 10.1212/WNL.0b013e3182068ea0. No abstract available.

PMID:: 21282599; [PubMed - indexed for MEDLINE]

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Select item 2110650118.

Nerve excitability studies characterize Kv1.1 fast potassium channel dysfunction in patients with episodic ataxia type 1.

Tomlinson SE, Tan SV, Kullmann DM, Griggs RC, Burke D, Hanna MG, Bostock H.

Brain. 2010 Dec;133(Pt 12):3530-40. doi: 10.1093/brain/awq318. Epub 2010 Nov 23.

PMID:: 21106501; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 2095679019.

SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain.

Liao Y, Anttonen AK, Liukkonen E, Gaily E, Maljevic S, Schubert S, Bellan-Koch A, Petrou S, Ahonen VE, Lerche H, Lehesjoki AE.

Neurology. 2010 Oct 19;75(16):1454-8. doi: 10.1212/WNL.0b013e3181f8812e.

PMID:: 20956790; [PubMed - indexed for MEDLINE]

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Select item 2066351820.

Fluctuating neuromuscular transmission defects and inverse acetazolamide response in episodic ataxia type 2 associated with the novel CaV2.1 single amino acid substitution R2090Q.

Melzer N, Classen J, Reiners K, Buttmann M.

J Neurol Sci. 2010 Sep 15;296(1-2):104-6. doi: 10.1016/j.jns.2010.06.024.

PMID:: 20663518; [PubMed - indexed for MEDLINE]

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10 free full-text articles in PubMed Central

PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine. [Neurology. 2012]
PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine.
Gardiner AR, Bhatia KP, Stamelou M, Dale RC, Kurian MA, Schneider SA, Wali GM, Counihan T, Schapira AH, Spacey SD, et al. Neurology. 2012 Nov 20; 79(21):2115-21. Epub 2012 Oct 17.
A randomized trial of 4-aminopyridine in EA2 and related familial episodic ataxias. [Neurology. 2011]
A randomized trial of 4-aminopyridine in EA2 and related familial episodic ataxias.
Strupp M, Kalla R, Claassen J, Adrion C, Mansmann U, Klopstock T, Freilinger T, Neugebauer H, Spiegel R, Dichgans M, et al. Neurology. 2011 Jul 19; 77(3):269-75. Epub 2011 Jul 6.
Candidate screening of the TRPC3 gene in cerebellar ataxia. [Cerebellum. 2011]
Candidate screening of the TRPC3 gene in cerebellar ataxia.
Becker EB, Fogel BL, Rajakulendran S, Dulneva A, Hanna MG, Perlman SL, Geschwind DH, Davies KE. Cerebellum. 2011 Jun; 10(2):296-9.

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