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Select item 114408971.

A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus

David Pellerin, Giulia F. Del Gobbo, Madeline Couse, Egor Dolzhenko, Sathiji K. Nageshwaran, Warren A. Cheung, Isaac R. L. Xu, Marie-Josée Dicaire, Guinevere Spurdens, Gabriel Matos-Rodrigues, Igor Stevanovski, Carolin K. Scriba, Adriana Rebelo, Virginie Roth, Marion Wandzel, Céline Bonnet, Catherine Ashton, Aman Agarwal, Cyril Peter, Dan Hasson, Nadejda M. Tsankova, Ken Dewar, Phillipa J. Lamont, Nigel G. Laing, Mathilde Renaud, Henry Houlden, Matthis Synofzik, Karen Usdin, Andre Nussenzweig, Marek Napierala, Zhao Chen, Hong Jiang, Ira W. Deveson, Gianina Ravenscroft, Schahram Akbarian, Michael A. Eberle, Kym M. Boycott, Tomi Pastinen, All of Us Research Program Long Read Working Group , Bernard Brais, Stephan Zuchner, Matt C. Danzi

Nat Genet. Author manuscript; available in PMC 2025 Jan 1.

Published in final edited form as: Nat Genet. 2024 Jul; 56(7): 1366–1370. Published online 2024 Jun 27. doi: 10.1038/s41588-024-01808-5

PMCID:: PMC11440897

Abstract Article PDF–1.6M

Select item 113720892.

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 111451423.

RFC1 and FGF14 Repeat Expansions in Serbian Patients with Cerebellar Ataxia

Andona Milovanović, Nataša Dragaševic‐Mišković, Mirja Thomsen, Max Borsche, Frauke Hinrichs, Ana Westenberger, Christine Klein, Norbert Brüggemann, Marija Branković, Ana Marjanović, Marina Svetel, Vladimir S. Kostić, Katja Lohmann

Mov Disord Clin Pract. 2024 Jun; 11(6): 626–633. Published online 2024 Mar 15. doi: 10.1002/mdc3.14020

PMCID:: PMC11145142

Abstract Article PDF–891K

Select item 109601434.

The genetic landscape and phenotypic spectrum of GAA-FGF14 ataxia in China: a large cohort study

Riwei Ouyang, Linlin Wan, David Pellerin, Zhe Long, Jian Hu, Qian Jiang, Chunrong Wang, Linliu Peng, Huirong Peng, Lang He, Rong Qiu, Junling Wang, Jifeng Guo, Lu Shen, Bernard Brais, Matt C. Danzi, Stephan Zuchner, Beisha Tang, Zhao Chen, Hong Jiang

eBioMedicine. 2024 Apr; 102: 105077. Published online 2024 Mar 20. doi: 10.1016/j.ebiom.2024.105077

PMCID:: PMC10960143

Abstract Article PDF–2.5M

Select item 109601265.

GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort

David Pellerin, Felix Heindl, Carlo Wilke, Matt C. Danzi, Andreas Traschütz, Catherine Ashton, Marie-Josée Dicaire, Alexanne Cuillerier, Giulia Del Gobbo, Kym M. Boycott, Jens Claassen, Dan Rujescu, Annette M. Hartmann, Stephan Zuchner, Bernard Brais, Michael Strupp, Matthis Synofzik

eBioMedicine. 2024 Apr; 102: 105076. Published online 2024 Mar 19. doi: 10.1016/j.ebiom.2024.105076

PMCID:: PMC10960126

Abstract Article PDF–922K

Select item 108506696.

Intronic FGF14 GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy

David Pellerin, Carlo Wilke, Andreas Traschütz, Sara Nagy, Riccardo Currò, Marie-Josée Dicaire, Hector Garcia-Moreno, Mathieu Anheim, Thomas Wirth, Jennifer Faber, Dagmar Timmann, Christel Depienne, Dan Rujescu, José Gazulla, Mary M Reilly, Paola Giunti, Bernard Brais, Henry Houlden, Ludger Schöls, Michael Strupp, Andrea Cortese, Matthis Synofzik

J Neurol Neurosurg Psychiatry. 2024 Feb; 95(2): 175–179. Published online 2023 Jun 30. doi: 10.1136/jnnp-2023-331490

PMCID:: PMC10850669

Abstract Article PDF–506K

Select item 107910127.

Clinical variability associated with intronic FGF14 GAA repeat expansion in Japan

Masahiro Ando, Yujiro Higuchi, Junhui Yuan, Akiko Yoshimura, Fumikazu Kojima, Yuki Yamanishi, Yasuhiro Aso, Kotaro Izumi, Minako Imada, Yoshimitsu Maki, Hiroto Nakagawa, Takahiro Hobara, Yutaka Noguchi, Jun Takei, Yu Hiramatsu, Satoshi Nozuma, Yusuke Sakiyama, Akihiro Hashiguchi, Eiji Matsuura, Yuji Okamoto, Hiroshi Takashima

Ann Clin Transl Neurol. 2024 Jan; 11(1): 96–104. Published online 2023 Nov 2. doi: 10.1002/acn3.51936

PMCID:: PMC10791012

Abstract Article PDF–3.2M

Select item 107846728.

Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions

Jean-Loup Méreaux, Claire-Sophie Davoine, David Pellerin, Giulia Coarelli, Marie Coutelier, Claire Ewenczyk, Marie-Lorraine Monin, Mathieu Anheim, Isabelle Le Ber, Stéphane Thobois, Florent Gobert, Léna Guillot-Noël, Sylvie Forlani, Ludmila Jornea, Anna Heinzmann, Aude Sangare, Bertrand Gaymard, Lucie Guyant-Maréchal, Perrine Charles, Cecilia Marelli, Jérôme Honnorat, Bertrand Degos, François Tison, Sophie Sangla, Marion Simonetta-Moreau, François Salachas, Maya Tchikviladzé, Giovanni Castelnovo, Fanny Mochel, Stephan Klebe, Anna Castrioto, Silvia Fenu, Aurélie Méneret, Frédéric Bourdain, Marion Wandzel, Virginie Roth, Céline Bonnet, Florence Riant, Giovanni Stevanin, Sandrine Noël, Anne-Laure Fauret-Amsellem, Melanie Bahlo, Paul J. Lockhart, Bernard Brais, Mathilde Renaud, Alexis Brice, Alexandra Durr

eBioMedicine. 2024 Jan; 99: 104931. Published online 2023 Dec 27. doi: 10.1016/j.ebiom.2023.104931

PMCID:: PMC10784672

Abstract Article PDF–854K

Select item 106920829.

MiR-1246b, a novel miRNA molecule of extracellular vesicles in bronchoalveolar lavage fluid, promotes nodule growth through FGF14 in patients with lung cancer

Jing Huang, Ming Ding, Yuan Lu, Lu Xu, Yu Zhang, Shuhua Han, Xiaoli Zhu, Yiping Li, Pingsheng Chen

Cell Death Dis. 2023 Dec; 14(12): 789. Published online 2023 Dec 1. doi: 10.1038/s41419-023-06218-9

PMCID:: PMC10692082

Abstract Article PDF–8.6M

Select item 1027217310.

Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B

Céline Bonnet, David Pellerin, Virginie Roth, Guillemette Clément, Marion Wandzel, Laëtitia Lambert, Solène Frismand, Marian Douarinou, Anais Grosset, Ines Bekkour, Frédéric Weber, Florent Girardier, Clément Robin, Stéphanie Cacciatore, Myriam Bronner, Carine Pourié, Natacha Dreumont, Salomé Puisieux, Pablo Iruzubieta, Marie-Josée Dicaire, François Evoy, Marie-France Rioux, Armand Hocquel, Roberta La Piana, Matthis Synofzik, Henry Houlden, Matt C. Danzi, Stephan Zuchner, Bernard Brais, Mathilde Renaud

Sci Rep. 2023; 13: 9737. Published online 2023 Jun 15. doi: 10.1038/s41598-023-36654-8

PMCID:: PMC10272173

Abstract Article PDF–3.7M

Select item 1012386611.

Broader phenotypic traits and widespread brain hypometabolism in spinocerebellar ataxia 27

M. Paucar, J. Lundin, T. Alshammari, Å. Bergendal, M. Lindefeldt, M. Alshammari, G. Solders, J. Di Re, I. Savitcheva, T. Granberg, F. Laezza, E. Iwarsson, P. Svenningsson

J Intern Med. Author manuscript; available in PMC 2023 Apr 24.

Published in final edited form as: J Intern Med. 2020 Jul; 288(1): 103–115. Published online 2020 Mar 19. doi: 10.1111/joim.13052

PMCID:: PMC10123866

Abstract Article PDF–2.0M

Select item 1004257712.

Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia

David Pellerin, Matt C. Danzi, Carlo Wilke, Mathilde Renaud, Sarah Fazal, Marie-Josée Dicaire, Carolin K. Scriba, Catherine Ashton, Christopher Yanick, Danique Beijer, Adriana Rebelo, Clarissa Rocca, Zane Jaunmuktane, Joshua A. Sonnen, Roxanne Larivière, David Genís, Laura Molina Porcel, Karine Choquet, Rawan Sakalla, Sylvie Provost, Rebecca Robertson, Xavier Allard-Chamard, Martine Tétreault, Sarah J. Reiling, Sara Nagy, Vikas Nishadham, Meera Purushottam, Seena Vengalil, Mainak Bardhan, Atchayaram Nalini, Zhongbo Chen, Jean Mathieu, Rami Massie, Colin H. Chalk, Anne-Louise Lafontaine, François Evoy, Marie-France Rioux, Jiannis Ragoussis, Kym M. Boycott, Marie-Pierre Dubé, Antoine Duquette, Henry Houlden, Gianina Ravenscroft, Nigel G. Laing, Phillipa J. Lamont, Mario A. Saporta, Rebecca Schüle, Ludger Schöls, Roberta La Piana, Matthis Synofzik, Stephan Zuchner, Bernard Brais

N Engl J Med. Author manuscript; available in PMC 2023 Jul 12.

Published in final edited form as: N Engl J Med. 2023 Jan 12; 388(2): 128–141. Published online 2022 Dec 14. doi: 10.1056/NEJMoa2207406

PMCID:: PMC10042577

Abstract Article PDF–1.4M

Select item 989277513.

An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14

Haloom Rafehi, Justin Read, David J. Szmulewicz, Kayli C. Davies, Penny Snell, Liam G. Fearnley, Liam Scott, Mirja Thomsen, Greta Gillies, Kate Pope, Mark F. Bennett, Jacob E. Munro, Kathie J. Ngo, Luke Chen, Mathew J. Wallis, Ernest G. Butler, Kishore R. Kumar, Kathy HC. Wu, Susan E. Tomlinson, Stephen Tisch, Abhishek Malhotra, Matthew Lee-Archer, Egor Dolzhenko, Michael A. Eberle, Leslie J. Roberts, Brent L. Fogel, Norbert Brüggemann, Katja Lohmann, Martin B. Delatycki, Melanie Bahlo, Paul J. Lockhart

Am J Hum Genet. 2023 Jan 5; 110(1): 105–119. Published online 2022 Dec 8. doi: 10.1016/j.ajhg.2022.11.015

Correction in:: Am J Hum Genet. 2023 Jun 1; 110(6): 1018.

PMCID:: PMC9892775

Abstract Article PDF–1.8M

Select item 816891114.

Genomic relevance of FGF14 and associated genes on the prognosis of pancreatic cancer

Aroosha Raja, Muhammad Faraz Arshad Malik, Farhan Haq

PLoS One. 2021; 16(6): e0252344. Published online 2021 Jun 1. doi: 10.1371/journal.pone.0252344

PMCID:: PMC8168911

Abstract Article PDF–1.2M

Select item 816503015.

Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome

Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2022 May 27.

Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011

PMCID:: PMC8165030

Abstract Article PDF–2.2M

Select item 798425416.

JAK2 regulates Nav1.6 channel function via FGF14^Y158 phosphorylation

Paul A Wadsworth, Aditya K. Singh, Nghi Nguyen, Nolan M. Dvorak, Cynthia M. Tapia, William K. Russell, Clifford Stephan, Fernanda Laezza

Biochim Biophys Acta Mol Cell Res. Author manuscript; available in PMC 2021 Oct 1.

Published in final edited form as: Biochim Biophys Acta Mol Cell Res. 2020 Oct; 1867(10): 118786. Published online 2020 Jun 26. doi: 10.1016/j.bbamcr.2020.118786

PMCID:: PMC7984254

Abstract Article PDF–3.3M

Select item 746601317.

Fibroblast Growth Factor—14 Acts as Tumor Suppressor in Lung Adenocarcinomas

Kati Turkowski, Frederik Herzberg, Stefan Günther, David Brunn, Andreas Weigert, Michael Meister, Thomas Muley, Mark Kriegsmann, Marc A. Schneider, Hauke Winter, Michael Thomas, Friedrich Grimminger, Werner Seeger, Soni Savai Pullamsetti, Rajkumar Savai

Cells. 2020 Aug; 9(8): 1755. Published online 2020 Jul 22. doi: 10.3390/cells9081755

PMCID:: PMC7466013

Abstract Article PDF–2.7M

Select item 736358818.

Mapping of the FGF14:Nav1.6 complex interface reveals FLPK as a functionally active peptide modulating excitability

Aditya K. Singh, Paul A. Wadsworth, Cynthia M. Tapia, Giuseppe Aceto, Syed R. Ali, Haiying Chen, Marcello D'Ascenzo, Jia Zhou, Fernanda Laezza

Physiol Rep. 2020 Jul; 8(14): e14505. Published online 2020 Jul 15. doi: 10.14814/phy2.14505

PMCID:: PMC7363588

Abstract Article PDF–2.4M

Select item 719863819.

A Variation in FGF14 Is Associated with Downbeat Nystagmus in a Genome-Wide Association Study

Michael Strupp, Stephan Maul, Bettina Konte, Annette M. Hartmann, Ina Giegling, Sophia Wollenteit, Katharina Feil, Dan Rujescu

Cerebellum. 2020; 19(3): 348–357. Published online 2020 Mar 10. doi: 10.1007/s12311-020-01113-x

PMCID:: PMC7198638

Abstract Article PDF–685K

Select item 718771520.

Julie Piarroux, Florence Riant, Véronique Humbertclaude, Ganaelle Remerand, Jessica Hadjadj, Franck Rejou, Christine Coubes, Lucile Pinson, Pierre Meyer, Agathe Roubertie

Ann Clin Transl Neurol. 2020 Apr; 7(4): 565–572. Published online 2020 Mar 12. doi: 10.1002/acn3.51005