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Select item 116659631.

Clinical characterization of a novel episodic ataxia in young working Cocker Spaniels

Clara Sarró, Catherine Stalin, Rodrigo Gutierrez‐Quintana, Ana Cloquell

J Vet Intern Med. 2025 Jan-Feb; 39(1): e17268. Published online 2024 Dec 23. doi: 10.1111/jvim.17268

PMCID:: PMC11665963

Abstract Article PDF–462K

Select item 116223212.

Postural control in episodic ataxia type 2: no evidence for increased vestibular excitability

Janina von der Gablentz, Nina Overbeeke, Dagmar Timmann, Christos Ganos, Matthis Synofzik, Norbert Brüggemann, Christoph Helmchen, Andreas Sprenger

Eur J Neurol. 2025 Jan; 32(1): e16520. Published online 2024 Oct 27. doi: 10.1111/ene.16520

PMCID:: PMC11622321

Abstract Article PDF–314K

Select item 116036623.

Pin1 promotes human Ca_V2.1 channel polyubiquitination by RNF138: pathophysiological implication for episodic ataxia type 2

Ssu-Ju Fu, Kai-Min Cheng, Cheng-Tsung Hsiao, Ya-Ching Fang, Chung-Jiuan Jeng, Chih-Yung Tang

Cell Commun Signal. 2024; 22: 571. Published online 2024 Nov 28. doi: 10.1186/s12964-024-01960-9

PMCID:: PMC11603662

Abstract Article PDF–10M

Select item 115433954.

Intellectual Disability in Episodic Ataxia Type 2: Beyond Paroxysmal Vertigo and Ataxia

Seoyeon Kim, Ji-Soo Kim, Seung-Han Lee, Jae-Myung Kim, Seunghee Na, Jae-Hwan Choi, Hyo-Jung Kim

J Clin Neurol. 2024 Nov; 20(6): 563–570. Published online 2024 Oct 17. doi: 10.3988/jcn.2024.0274

PMCID:: PMC11543395

Abstract Article PDF–425K

Select item 114896305.

Isaacs’ syndrome: Clinical and paraclinical perspectives in a series of cases

Payam Sarraf, Mahan Shafie, Ghasem Farahmand, Mahsa Mayeli, Mojtaba Shahbazi, Hana Magrouni, Melika Jameie, Babak Ghelichnia Emrani, Maryam Rashidi-Jazani

Curr J Neurol. 2024 Jan 5; 23(1): 1–14. doi: 10.18502/cjn.v23i1.16428

PMCID:: PMC11489630

Abstract Article PDF–881K

Select item 114469886.

Natural history of non-polyglutamine CACNA1A disease in Austria

Elisabetta Indelicato, Wolfgang Nachbauer, Matthias S. Amprosi, Sarah Maier, Iris Unterberger, Margarete Delazer, Katharina Kaltseis, Stefan Kiechl, Gregor Broessner, Matthias Baumann, Sylvia Boesch

J Neurol. 2024; 271(10): 6618–6627. Published online 2024 Aug 7. doi: 10.1007/s00415-024-12602-y

PMCID:: PMC11446988

Abstract Article PDF–1.0M

Select item 113720897.

Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions

Lars Mohren, Friedrich Erdlenbruch, Elsa Leitão, Fabian Kilpert, G. Sebastian Hönes, Sabine Kaya, Christopher Schröder, Andreas Thieme, Marc Sturm, Joohyun Park, Agatha Schlüter, Montserrat Ruiz, Moisés Morales de la Prida, Carlos Casasnovas, Kerstin Becker, Ulla Roggenbuck, Sonali Pechlivanis, Frank J. Kaiser, Matthis Synofzik, Thomas Wirth, Mathieu Anheim, Tobias B. Haack, Paul J. Lockhart, Karl-Heinz Jöckel, Aurora Pujol, Stephan Klebe, Dagmar Timmann, Christel Depienne

Nat Commun. 2024; 15: 7665. Published online 2024 Sep 3. doi: 10.1038/s41467-024-52148-1

PMCID:: PMC11372089

Abstract Article PDF–3.9M

Select item 111931658.

Oral management for a patient with trismus accompanied by Isaacs’ syndrome: a case report

Asuka Tani, Shinsuke Mizutani, Mitsuru Watanabe, Takashi Irie, Katsuhisa Masaki, Noriko Isobe, Haruhiko Kashiwazaki

BMC Oral Health. 2024; 24: 716. Published online 2024 Jun 22. doi: 10.1186/s12903-024-04485-2

PMCID:: PMC11193165

Abstract Article PDF–932K

Select item 111562479.

Anti-CASPR2 Antibody-Associated Syndrome Presenting With Episodic Ataxia

Sofia Lopes, Leonor Francisco, Stefanie Moreira, Sara Varanda, José Manuel Araújo

Cureus. 2024 May; 16(5): e59821. Published online 2024 May 7. doi: 10.7759/cureus.59821

PMCID:: PMC11156247

Abstract Article PDF–237K

Select item 1093002310.

一个发作性共济失调2型家系的临床表现及CACNA1A基因突变

徐迎晖, 王智沁, 孙启英, 周琳, 许宏伟, 胡雅岑

Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2022 Jun 28; 47(6): 801–808. Chinese. doi: 10.11817/j.issn.1672-7347.2022.210650

PMCID:: PMC10930023

Abstract Article PDF–1.0M

Select item 1078833111.

Episodic ataxia type 2 with a novel missense variant (Leu602Arg) in CACNA1A

Shiroh Miura, Emina Watanabe, Kensuke Senzaki, Shigeyoshi Hiruki, Sayaka Matsumoto, Takuya Morikawa, Yusuke Uchiyama, Seiji Kurata, Masayuki Ochi, Yasumasa Ohyagi, Hiroki Shibata

Hum Genome Var. 2024; 11: 3. Published online 2024 Jan 15. doi: 10.1038/s41439-023-00261-w

PMCID:: PMC10788331

Abstract Article PDF–845K

Select item 1075914412.

Paroxysmal Ataxia: A Characteristic Feature of FGF14 Repeat Expansion (SCA27B)

Cendrine Foucard, Marie Belley, Aude Sangare, Céline Bonnet, Mathilde Renaud, Emmanuel Roze

Neurol Genet. 2024 Feb; 10(1): e200118. Published online 2023 Dec 8. doi: 10.1212/NXG.0000000000200118

PMCID:: PMC10759144

Abstract Article PDF–115K

Select item 1075425913.

Selective block of human Kv1.1 channels and an epilepsy-associated gain-of-function mutation by AETX-K peptide

Ruiming Zhao, Arwa Qasim, Punyanuch Sophanpanichkul, Hui Dai, Maha Nayak, Inbal Sher, Jordan Chill, Steve A. N. Goldstein

FASEB J. Author manuscript; available in PMC 2025 Jan 1.

Published in final edited form as: FASEB J. 2024 Jan; 38(1): e23381. doi: 10.1096/fj.202302061R

PMCID:: PMC10754259

Abstract Article PDF–987K

Select item 1064097214.

Case report: Episodic ataxia without ataxia?

Andrea Gaudio, Fabio Gotta, Clarissa Ponti, Francesca Sanguineri, Lucia Trevisan, Alessandro Geroldi, Serena Patrone, Chiara Gemelli, Corrado Cabona, Guja Astrea, Chiara Fiorillo, Stefano Gustincich, Marina Grandis, Paola Mandich

Front Neurol. 2023; 14: 1224241. Published online 2023 Oct 26. doi: 10.3389/fneur.2023.1224241

PMCID:: PMC10640972

Abstract Article PDF–287K

Select item 1062834615.

Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia

Hang Lyu, Christian M. Boßelmann, Katrine M. Johannesen, Mahmoud Koko, Juan Dario Ortigoza-Escobar, Sergio Aguilera-Albesa, Deyanira Garcia-Navas Núñez, Tarja Linnankivi, Eija Gaily, Henriette J.A. van Ruiten, Ruth Richardson, Cornelia Betzler, Gabriella Horvath, Eva Brilstra, Niels Geerdink, Daniele Orsucci, Alessandra Tessa, Elena Gardella, Zofia Fleszar, Ludger Schöls, Holger Lerche, Rikke S. Møller, Yuanyuan Liu

eBioMedicine. 2023 Dec; 98: 104855. Published online 2023 Oct 28. doi: 10.1016/j.ebiom.2023.104855

PMCID:: PMC10628346

Abstract Article PDF–2.8M

Select item 1062768116.

Isaacs syndrome with LGI1 and CASPR2 antibodies after HPV vaccination: A case report

Bufan Yang, Wei Wei, Jingfeng Duan, Pei Xiao, Yu Jing, Yufeng Tang

Medicine (Baltimore) 2023 Nov 3; 102(44): e35865. Published online 2023 Nov 3. doi: 10.1097/MD.0000000000035865

PMCID:: PMC10627681

Abstract Article PDF–1007K

Select item 1047810817.

Ataxia episódica tipo 2: estudio clínico, genético y radiológico de 10 pacientes

Juan Alcalá-Torres, Rubén Pérez-de la Fuente, Agustín Cárdenas-del Carre, Ana Arteche-López, Ignacio J. Posada-Rodríguez

Rev Neurol. 2023; 76(10): 321–325. Spanish. Published online 2023 May 16. doi: 10.33588/rn.7610.2023117

PMCID:: PMC10478108

Abstract Article PDF–845K

Select item 1040100418.

An activator of voltage-gated K⁺ channels Kv1.1 as a therapeutic candidate for episodic ataxia type 1

Ilenio Servettini, Giuseppe Talani, Alfredo Megaro, Maria Dolores Setzu, Francesca Biggio, Michelle Briffa, Luca Guglielmi, Nicoletta Savalli, Francesca Binda, Francis Delicata, Gilles Bru–Mercier, Neville Vassallo, Vittorio Maglione, Ruben J. Cauchi, Alba Di Pardo, Maria Collu, Paola Imbrici, Luigi Catacuzzeno, Maria Cristina D’Adamo, Riccardo Olcese, Mauro Pessia

Proc Natl Acad Sci U S A. 2023 Aug 1; 120(31): e2207978120. Published online 2023 Jul 24. doi: 10.1073/pnas.2207978120

PMCID:: PMC10401004

Abstract Article PDF–1.6M

Select item 1039462319.

Apo state pore opening as functional basis of increased EAAT anion channel activity in episodic ataxia 6

Mariia Suslova, Daniel Kortzak, Jan-Philipp Machtens, Peter Kovermann, Christoph Fahlke

Front Physiol. 2023; 14: 1147216. Published online 2023 Jul 19. doi: 10.3389/fphys.2023.1147216

PMCID:: PMC10394623

Abstract Article PDF–4.3M

Select item 1036506720.

Phenotypic and genetic aspects of hereditary ataxia in dogs

Kimberley Stee, Mario Van Poucke, Mark Lowrie, Luc Van Ham, Luc Peelman, Natasha Olby, Sofie F.M. Bhatti

J Vet Intern Med. 2023 Jul-Aug; 37(4): 1306–1322. Published online 2023 Jun 21. doi: 10.1111/jvim.16742

PMCID:: PMC10365067

Abstract Article PDF–3.7M

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