These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
163 related articles for article (PubMed ID: 11723274)
1. Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission. Jen J; Wan J; Graves M; Yu H; Mock AF; Coulin CJ; Kim G; Yue Q; Papazian DM; Baloh RW Neurology; 2001 Nov; 57(10):1843-8. PubMed ID: 11723274 [TBL] [Abstract][Full Text] [Related]
2. Presynaptic failure of neuromuscular transmission and synaptic remodeling in EA2. Maselli RA; Wan J; Dunne V; Graves M; Baloh RW; Wollmann RL; Jen J Neurology; 2003 Dec; 61(12):1743-8. PubMed ID: 14694040 [TBL] [Abstract][Full Text] [Related]
3. Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene. Tonelli A; D'Angelo MG; Salati R; Villa L; Germinasi C; Frattini T; Meola G; Turconi AC; Bresolin N; Bassi MT J Neurol Sci; 2006 Feb; 241(1-2):13-7. PubMed ID: 16325861 [TBL] [Abstract][Full Text] [Related]
4. Functional implications of a novel EA2 mutation in the P/Q-type calcium channel. Spacey SD; Hildebrand ME; Materek LA; Bird TD; Snutch TP Ann Neurol; 2004 Aug; 56(2):213-20. PubMed ID: 15293273 [TBL] [Abstract][Full Text] [Related]
5. CACNA1A mutations causing episodic and progressive ataxia alter channel trafficking and kinetics. Wan J; Khanna R; Sandusky M; Papazian DM; Jen JC; Baloh RW Neurology; 2005 Jun; 64(12):2090-7. PubMed ID: 15985579 [TBL] [Abstract][Full Text] [Related]
6. Reduced ACh release at neuromuscular synapses of heterozygous leaner Ca(v)2.1-mutant mice. Kaja S; Van De Ven RC; Frants RR; Ferrari MD; Van Den Maagdenberg AM; Plomp JJ Synapse; 2008 May; 62(5):337-44. PubMed ID: 18293354 [TBL] [Abstract][Full Text] [Related]
7. Effect of inherited abnormalities of calcium regulation on human neuromuscular transmission. Maselli RA; Books W; Dunne V Ann N Y Acad Sci; 2003 Sep; 998():18-28. PubMed ID: 14592859 [TBL] [Abstract][Full Text] [Related]
8. A novel missense mutation in CACNA1A evaluated by in silico protein modeling is associated with non-episodic spinocerebellar ataxia with slow progression. Bürk K; Kaiser FJ; Tennstedt S; Schöls L; Kreuz FR; Wieland T; Strom TM; Büttner T; Hollstein R; Braunholz D; Plaschke J; Gillessen-Kaesbach G; Zühlke C Eur J Med Genet; 2014 Apr; 57(5):207-11. PubMed ID: 24486772 [TBL] [Abstract][Full Text] [Related]
9. Identification of CACNA1A large deletions in four patients with episodic ataxia. Riant F; Lescoat C; Vahedi K; Kaphan E; Toutain A; Soisson T; Wiener-Vacher SR; Tournier-Lasserve E Neurogenetics; 2010 Feb; 11(1):101-6. PubMed ID: 19633872 [TBL] [Abstract][Full Text] [Related]
10. Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia. Spacey SD; Materek LA; Szczygielski BI; Bird TD Arch Neurol; 2005 Feb; 62(2):314-6. PubMed ID: 15710862 [TBL] [Abstract][Full Text] [Related]
11. Large CACNA1A deletion in a family with episodic ataxia type 2. Riant F; Mourtada R; Saugier-Veber P; Tournier-Lasserve E Arch Neurol; 2008 Jun; 65(6):817-20. PubMed ID: 18541804 [TBL] [Abstract][Full Text] [Related]
12. The first knockin mouse model of episodic ataxia type 2. Rose SJ; Kriener LH; Heinzer AK; Fan X; Raike RS; van den Maagdenberg AM; Hess EJ Exp Neurol; 2014 Nov; 261():553-62. PubMed ID: 25109669 [TBL] [Abstract][Full Text] [Related]
13. Premature stop codons in a facilitating EF-hand splice variant of CaV2.1 cause episodic ataxia type 2. Graves TD; Imbrici P; Kors EE; Terwindt GM; Eunson LH; Frants RR; Haan J; Ferrari MD; Goadsby PJ; Hanna MG; van den Maagdenberg AM; Kullmann DM Neurobiol Dis; 2008 Oct; 32(1):10-5. PubMed ID: 18606230 [TBL] [Abstract][Full Text] [Related]
15. Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2. Guida S; Trettel F; Pagnutti S; Mantuano E; Tottene A; Veneziano L; Fellin T; Spadaro M; Stauderman K; Williams M; Volsen S; Ophoff R; Frants R; Jodice C; Frontali M; Pietrobon D Am J Hum Genet; 2001 Mar; 68(3):759-64. PubMed ID: 11179022 [TBL] [Abstract][Full Text] [Related]
16. Ubiquitin Ligase RNF138 Promotes Episodic Ataxia Type 2-Associated Aberrant Degradation of Human Ca Fu SJ; Jeng CJ; Ma CH; Peng YJ; Lee CM; Fang YC; Lee YC; Tang SC; Hu MC; Tang CY J Neurosci; 2017 Mar; 37(9):2485-2503. PubMed ID: 28167673 [TBL] [Abstract][Full Text] [Related]
17. 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; 305(1-2):71-4. PubMed ID: 21440913 [TBL] [Abstract][Full Text] [Related]
18. Dominant-negative effects of episodic ataxia type 2 mutations involve disruption of membrane trafficking of human P/Q-type Ca2+ channels. Jeng CJ; Sun MC; Chen YW; Tang CY J Cell Physiol; 2008 Feb; 214(2):422-33. PubMed ID: 17654512 [TBL] [Abstract][Full Text] [Related]
19. A mouse model of the slow channel myasthenic syndrome: Neuromuscular physiology and effects of ephedrine treatment. Webster RG; Cossins J; Lashley D; Maxwell S; Liu WW; Wickens JR; Martinez-Martinez P; de Baets M; Beeson D Exp Neurol; 2013 Oct; 248():286-98. PubMed ID: 23797154 [TBL] [Abstract][Full Text] [Related]
20. Severely impaired neuromuscular synaptic transmission causes muscle weakness in the Cacna1a-mutant mouse rolling Nagoya. Kaja S; van de Ven RC; van Dijk JG; Verschuuren JJ; Arahata K; Frants RR; Ferrari MD; van den Maagdenberg AM; Plomp JJ Eur J Neurosci; 2007 Apr; 25(7):2009-20. PubMed ID: 17439489 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]