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Items: 11

Select item 92618711.

Rare KCND3 Loss-of-Function Mutation Associated With the SCA19/22

Mengjie Li, Fen Liu, Xiaoyan Hao, Yu Fan, Jiadi Li, Zhengwei Hu, Jingjing Shi, Liyuan Fan, Shuo Zhang, Dongrui Ma, Mengnan Guo, Yuming Xu, Changhe Shi

Front Mol Neurosci. 2022; 15: 919199. Published online 2022 Jun 23. doi: 10.3389/fnmol.2022.919199

PMCID:: PMC9261871

Abstract Article PDF–5.6M

Select item 81258452.

Novel KCND3 Variant Underlying Nonprogressive Congenital Ataxia or SCA19/22 Disrupt K_V4.3 Protein Expression and K+ Currents with Variable Effects on Channel Properties

Ginevra Zanni, Cheng-Tsung Hsiao, Ssu-Ju Fu, Chih-Yung Tang, Alessandro Capuano, Luca Bosco, Federica Graziola, Emanuele Bellacchio, Serenella Servidei, Guido Primiano, Bing-Wen Soong, Chung-Jiuan Jeng

Int J Mol Sci. 2021 May; 22(9): 4986. Published online 2021 May 7. doi: 10.3390/ijms22094986

PMCID:: PMC8125845

Abstract Article PDF–2.3M

Select item 60288323.

Novel Features and Abnormal Pattern of Cerebral Glucose Metabolism in Spinocerebellar Ataxia 19

Martin Paucar, Åsa Bergendal, Peter Gustavsson, Magnus Nordenskjöld, José Laffita-Mesa, Irina Savitcheva, Per Svenningsson

Cerebellum. 2018; 17(4): 465–476. Published online 2018 Mar 12. doi: 10.1007/s12311-018-0927-4

PMCID:: PMC6028832

Abstract Article PDF–4.7M

Select item 45710654.

Analysis of SCA8, SCA10, SCA12, SCA17 and SCA19 in patients with unknown spinocerebellar ataxia: a Thai multicentre study

Lulin Choubtum, Pirada Witoonpanich, Suchat Hanchaiphiboolkul, Roongroj Bhidayasiri, Onanong Jitkritsadakul, Sunsanee Pongpakdee, Suppachok Wetchaphanphesat, Pairoj Boonkongchuen, Teeratorn Pulkes

BMC Neurol. 2015; 15: 166. Published online 2015 Sep 15. doi: 10.1186/s12883-015-0425-y

PMCID:: PMC4571065

Abstract Article PDF–681K

Select item 45311395.

Spinocerebellar ataxia type 19/22 mutations alter heterocomplex Kv4.3 channel function and gating in a dominant manner

Anna Duarri, Meng-Chin A. Lin, Michiel R. Fokkens, Michel Meijer, Cleo J. L. M. Smeets, Esther A. R. Nibbeling, Erik Boddeke, Richard J. Sinke, Harm H. Kampinga, Diane M. Papazian, Dineke S. Verbeek

Cell Mol Life Sci. 2015 Sep; 72(17): 3387–3399. Published online 2015 Apr 9. doi: 10.1007/s00018-015-1894-2

PMCID:: PMC4531139

Abstract Article PDF–2.9M

Select item 103414206.

An E280K Missense Variant in KCND3/Kv4.3—Case Report and Functional Characterization

Richard Ågren, Niels Geerdink, Han G. Brunner, Martin Paucar, Erik-Jan Kamsteeg, Kristoffer Sahlholm

Int J Mol Sci. 2023 Jul; 24(13): 10924. Published online 2023 Jun 30. doi: 10.3390/ijms241310924

PMCID:: PMC10341420

Abstract Article PDF–2.0M

Select item 74611037.

Luca Pollini, Serena Galosi, Manuela Tolve, Caterina Caputi, Carla Carducci, Antonio Angeloni, Vincenzo Leuzzi

Int J Mol Sci. 2020 Aug; 21(16): 5802. Published online 2020 Aug 13. doi: 10.3390/ijms21165802

PMCID:: PMC7461103

Abstract Article PDF–1.0M

Select item 74043928.

Inter-Regulation of K_v4.3 and Voltage-Gated Sodium Channels Underlies Predisposition to Cardiac and Neuronal Channelopathies

Jérôme Clatot, Nathalie Neyroud, Robert Cox, Charlotte Souil, Jing Huang, Pascale Guicheney, Charles Antzelevitch

Int J Mol Sci. 2020 Jul; 21(14): 5057. Published online 2020 Jul 17. doi: 10.3390/ijms21145057

PMCID:: PMC7404392

Abstract Article PDF–2.2M

Select item 40851469.

Mutations in KCND3 cause spinocerebellar ataxia type 22

Yi-chung Lee, Alexandra Durr, Karen Majczenko, Yen-hua Huang, Yu-chao Liu, Cheng-chang Lien, Pei-chien Tsai, Yaeko Ichikawa, Jun Goto, Marie-Lorraine Monin, Jun Z. Li, Ming-yi Chung, Emeline Mundwiller, Vikram Shakkottai, Tze-tze Liu, Christelle Tesson, Yi-chun Lu, Alexis Brice, Shoji Tsuji, Margit Burmeister, Giovanni Stevanin, Bing-wen Soong

Ann Neurol. Author manuscript; available in PMC 2014 Jul 7.

Published in final edited form as: Ann Neurol. 2012 Dec; 72(6): 859–869. doi: 10.1002/ana.23701

PMCID:: PMC4085146

Abstract Article PDF–384K

Select item 962821610.

Levels of tumor markers CEA/CA 19–9 in serum and peritoneal lavage predict postoperative recurrence in patients with pancreatic cancer

Tatsuo Hata, Kazuharu Chiba, Masamichi Mizuma, Kunihiro Masuda, Hideo Ohtsuka, Kei Nakagawa, Takanori Morikawa, Hiroki Hayashi, Fuyuhiko Motoi, Michiaki Unno

Ann Gastroenterol Surg. 2022 Nov; 6(6): 862–872. Published online 2022 Jul 1. doi: 10.1002/ags3.12597

PMCID:: PMC9628216

Abstract Article PDF–4.8M

Select item 786209311.

V374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia Exacerbations

Martin Paucar, Richard Ågren, Tianyi Li, Simon Lissmats, Åsa Bergendal, Jan Weinberg, Daniel Nilsson, Irina Savichetva, Kristoffer Sahlholm, Johanna Nilsson, Per Svenningsson

Neurol Genet. 2021 Feb; 7(1): e546. Published online 2021 Jan 6. doi: 10.1212/NXG.0000000000000546