163 related articles for article (PubMed ID: 34078557)
1. Marked reduction in paralytic attacks in a patient with Andersen-Tawil syndrome switched from acetazolamide to dichlorphenamide.
Gupta A; Iyadurai S; Roggenbuck J; LoRusso S
Neuromuscul Disord; 2021 Jul; 31(7):656-659. PubMed ID: 34078557
[TBL] [Abstract][Full Text] [Related]
2. Novel de novo mutation in the KCNJ2 gene in a patient with Andersen-Tawil syndrome.
Kim JB; Chung KW
Pediatr Neurol; 2009 Dec; 41(6):464-6. PubMed ID: 19931173
[TBL] [Abstract][Full Text] [Related]
3. Review of the Diagnosis and Treatment of Periodic Paralysis.
Statland JM; Fontaine B; Hanna MG; Johnson NE; Kissel JT; Sansone VA; Shieh PB; Tawil RN; Trivedi J; Cannon SC; Griggs RC
Muscle Nerve; 2018 Apr; 57(4):522-530. PubMed ID: 29125635
[TBL] [Abstract][Full Text] [Related]
4. A Kir3.4 mutation causes Andersen-Tawil syndrome by an inhibitory effect on Kir2.1.
Kokunai Y; Nakata T; Furuta M; Sakata S; Kimura H; Aiba T; Yoshinaga M; Osaki Y; Nakamori M; Itoh H; Sato T; Kubota T; Kadota K; Shindo K; Mochizuki H; Shimizu W; Horie M; Okamura Y; Ohno K; Takahashi MP
Neurology; 2014 Mar; 82(12):1058-64. PubMed ID: 24574546
[TBL] [Abstract][Full Text] [Related]
5. Andersen-Tawil syndrome: deep phenotyping reveals significant cardiac and neuromuscular morbidity.
Vivekanandam V; Männikkö R; Skorupinska I; Germain L; Gray B; Wedderburn S; Kozyra D; Sud R; James N; Holmes S; Savvatis K; Fialho D; Merve A; Pattni J; Farrugia M; Behr ER; Marini-Bettolo C; Hanna MG; Matthews E
Brain; 2022 Jun; 145(6):2108-2120. PubMed ID: 34919635
[TBL] [Abstract][Full Text] [Related]
6. A study supporting possible expression of inward-rectifying potassium channel 2.1 channels in peripheral nerve in a patient with Andersen-Tawil syndrome.
Shibuya K; Tsuneyama A; Beppu M; Misawa S; Sekiguchi Y; Amino H; Suzuki YI; Suichi T; Nakamura K; Kuwabara S
Muscle Nerve; 2019 Apr; 59(4):E28-E30. PubMed ID: 30681175
[No Abstract] [Full Text] [Related]
7. A case of Andersen-Tawil syndrome presenting periodic paralysis exacerbated by acetazolamide.
Nagamine S; Sakoda S; Koide R; Kawata A; Yuan J; Takashima H; Nakano I
J Neurol Sci; 2014 Dec; 347(1-2):385-6. PubMed ID: 25284084
[No Abstract] [Full Text] [Related]
8. Intrafamilial phenotypic variability in Andersen-Tawil syndrome: A diagnostic challenge in a potentially treatable condition.
Ardissone A; Sansone V; Colleoni L; Bernasconi P; Moroni I
Neuromuscul Disord; 2017 Mar; 27(3):294-297. PubMed ID: 28024840
[TBL] [Abstract][Full Text] [Related]
9. Biophysical and molecular characterization of a novel de novo KCNJ2 mutation associated with Andersen-Tawil syndrome and catecholaminergic polymorphic ventricular tachycardia mimicry.
Barajas-Martinez H; Hu D; Ontiveros G; Caceres G; Desai M; Burashnikov E; Scaglione J; Antzelevitch C
Circ Cardiovasc Genet; 2011 Feb; 4(1):51-7. PubMed ID: 21148745
[TBL] [Abstract][Full Text] [Related]
10. Novel mutation in the KCNJ2 gene is associated with a malignant arrhythmic phenotype of Andersen-Tawil syndrome.
Fernlund E; Lundin C; Hertervig E; Kongstad O; Alders M; Platonov P
Ann Noninvasive Electrocardiol; 2013 Sep; 18(5):471-8. PubMed ID: 24047492
[TBL] [Abstract][Full Text] [Related]
11. Kir 2.1 channelopathies: the Andersen-Tawil syndrome.
Tristani-Firouzi M; Etheridge SP
Pflugers Arch; 2010 Jul; 460(2):289-94. PubMed ID: 20306271
[TBL] [Abstract][Full Text] [Related]
12. Functional analysis of a double-point mutation in the KCNJ2 gene identified in a family with Andersen-Tawil syndrome.
Fukumura S; Yamauchi K; Kawanabe A; Yamamoto A; Nakaza M; Kubota T; Kato S; Sasaki R; Okamura Y; Takahashi MP
J Neurol Sci; 2019 Dec; 407():116521. PubMed ID: 31669729
[TBL] [Abstract][Full Text] [Related]
13. Phenotypic Variability of Andersen-Tawil Syndrome Due to Allelic Mutation c.652C>T in the
Onore ME; Picillo E; D'Ambrosio P; Morra S; Nigro V; Politano L
Biomolecules; 2024 Apr; 14(4):. PubMed ID: 38672523
[TBL] [Abstract][Full Text] [Related]
14. Andersen-Tawil Syndrome With Novel Mutation in
Yim J; Kim KB; Kim M; Lee GD; Kim M
Front Pediatr; 2021; 9():790075. PubMed ID: 35174115
[TBL] [Abstract][Full Text] [Related]
15. Andersen cardiodysrhythmic periodic paralysis with KCNJ2 mutations: a novel mutation in the pore selectivity filter residue.
Lim BC; Kim GB; Bae EJ; Noh CI; Hwang H; Kim KJ; Hwang YS; Ko TS; Chae JH
J Child Neurol; 2010 Apr; 25(4):490-3. PubMed ID: 20382953
[TBL] [Abstract][Full Text] [Related]
16. Identification of the KCNJ2 Mutation in a Korean Family with Andersen-Tawil Syndrome and Developmental Delay.
Kim NR; Jang JH; Jeon GW; Cho EH; Sin JB
Ann Clin Lab Sci; 2016; 46(1):110-3. PubMed ID: 26927354
[TBL] [Abstract][Full Text] [Related]
17. Andersen-Tawil syndrome with early fixed myopathy.
Lefter S; Hardiman O; Costigan D; Lynch B; McConville J; Hand CK; Ryan AM
J Clin Neuromuscul Dis; 2014 Dec; 16(2):79-82. PubMed ID: 25415519
[TBL] [Abstract][Full Text] [Related]
18. Lack of any cardiac involvement in a patient with Andersen-Tawil syndrome associated with the c.574A→G mutation in KCNJ2.
Modoni A; Bianchi ML; Vitulano N; Pagliarani S; Perna F; Sanna T; Rizzo V; Silvestri G
Cardiology; 2011; 120(4):200-3. PubMed ID: 22286118
[TBL] [Abstract][Full Text] [Related]
19. Hypokalemic periodic paralysis, facial dysmorphism and ventricular arrhythmia (clinical triad of Andersen-Tawil syndrome).
Thakkar M; Biswas TK; Desle HB
J Assoc Physicians India; 2012 Nov; 60():56-8. PubMed ID: 23767205
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]