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Select item 66125331.

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

Haloom Rafehi, David J. Szmulewicz, Mark F. Bennett, Nara L.M. Sobreira, Kate Pope, Katherine R. Smith, Greta Gillies, Peter Diakumis, Egor Dolzhenko, Michael A. Eberle, María García Barcina, David P. Breen, Andrew M. Chancellor, Phillip D. Cremer, Martin B. Delatycki, Brent L. Fogel, Anna Hackett, G. Michael Halmagyi, Solange Kapetanovic, Anthony Lang, Stuart Mossman, Weiyi Mu, Peter Patrikios, Susan L. Perlman, Ian Rosemergy, Elsdon Storey, Shaun R.D. Watson, Michael A. Wilson, David S. Zee, David Valle, David J. Amor, Melanie Bahlo, Paul J. Lockhart

Am J Hum Genet. 2019 Jul 3; 105(1): 151–165. Published online 2019 Jun 20. doi: 10.1016/j.ajhg.2019.05.016

PMCID:: PMC6612533

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Select item 104165152.

A novel ELOVL4 variant, L168S, causes early childhood-onset Spinocerebellar ataxia-34 and retinal dysfunction: a case report

Yeboah Kofi Gyening, Keren Boris, Mignot Cyril, Richard S. Brush, Marie-Cécile Nassogne, Martin-Paul Agbaga

Acta Neuropathol Commun. 2023; 11: 131. Published online 2023 Aug 11. doi: 10.1186/s40478-023-01628-4

PMCID:: PMC10416515

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Select item 99697963.

First international workshop of the ATM and Cancer Risk Group (4–5 December 2019)

Fabienne Lesueur, Douglas F Easton, Anne-Laure Renault, Sean V. Tavtigian, Jonine L. Bernstein, Zsofia Kote-Jarai, Rosalind A. Eeles, Dijana Plaseska-Karanfia, Lidia Feliubadaló, on behalf of the Spanish ATM working group, Banu Arun, Natalie Herold, Beatrix Versmold, Rita Katharina Schmutzler, Tú Nguyen-Dumont, Melissa C. Southey, Leila Dorling, Alison M. Dunning, Paola Ghiorzo, Bruna Samia Dalmasso, Eve Cavaciuti, Dorothée Le Gal, Nicholas J. Roberts, Mev Dominguez-Valentin, Matti Rookus, Alexander M.R. Taylor, Alisa M. Goldstein, David E. Goldgar, on behalf of CARRIERS and Ambry groups, Dominique Stoppa-Lyonnet, Nadine Andrieu

Fam Cancer. Author manuscript; available in PMC 2023 Apr 1.

Published in final edited form as: Fam Cancer. 2022 Apr; 21(2): 211–227. Published online 2021 Jun 14. doi: 10.1007/s10689-021-00248-y

PMCID:: PMC9969796

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Select item 98833154.

Thymidine Kinase 2 and Mitochondrial Protein COX I in the Cerebellum of Patients with Spinocerebellar Ataxia Type 31 Caused by Penta-nucleotide Repeats (TTCCA)_n

Hanako Aoki, Miwa Higashi, Michi Okita, Noboru Ando, Shigeo Murayama, Kinya Ishikawa, Takanori Yokota

Cerebellum. 2023; 22(1): 70–84. Published online 2022 Jan 27. doi: 10.1007/s12311-021-01364-2

PMCID:: PMC9883315

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Select item 95474065.

Moyamoya associated with Turner syndrome in a patient with type 2 spinocerebellar ataxia—Occam’s razor or Hickam’s dictum: a case report

Paulo Ribeiro Nóbrega, Francisco Bruno Santana da Costa, Pedro Gustavo Barros Rodrigues, Thais de Maria Frota Vasconcelos, Danyela Martins Bezerra Soares, Jéssica Silveira Araújo, Daniel Aguiar Dias, Manoel Alves Sobreira-Neto, Anderson Rodrigues Brandão de Paiva, Pedro Braga-Neto, Fernando Kok, Eveline Gadelha Pereira Fontenele

BMC Neurol. 2022; 22: 381. Published online 2022 Oct 8. doi: 10.1186/s12883-022-02912-x

PMCID:: PMC9547406

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Select item 92885066.

Compounds activating VCP D1 ATPase enhance both autophagic and proteasomal neurotoxic protein clearance

Lidia Wrobel, Sandra M. Hill, Alvin Djajadikerta, Marian Fernandez-Estevez, Cansu Karabiyik, Avraham Ashkenazi, Victoria J. Barratt, Eleanna Stamatakou, Anders Gunnarsson, Timothy Rasmusson, Eric W. Miele, Nigel Beaton, Roland Bruderer, Yuehan Feng, Lukas Reiter, M. Paola Castaldi, Rebecca Jarvis, Keith Tan, Roland W. Bürli, David C. Rubinsztein

Nat Commun. 2022; 13: 4146. Published online 2022 Jul 16. doi: 10.1038/s41467-022-31905-0

PMCID:: PMC9288506

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Select item 85624267.

A Novel De Novo Intronic Variant in ITPR1 Causes Gillespie Syndrome

Laura Keehan, Ming-Ming Jiang, Xiaohui Li, Ronit Marom, Hongzheng Dai, David Murdock, Pengfei Liu, Jill Hunter, Jason D. Heaney, Laurie Robak, Lisa Emrick, Tim Lotze, Lauren Blieden, Undiagnosed Diseases Network, Richard Alan Lewis, Alex V. Levin, Jenina Capasso, William Craigen, Jill A. Rosenfeld, Brendan Lee, Lindsay C. Burrage

Am J Med Genet A. Author manuscript; available in PMC 2022 Aug 1.

Published in final edited form as: Am J Med Genet A. 2021 Aug; 185(8): 2315–2324. Published online 2021 May 5. doi: 10.1002/ajmg.a.62232

PMCID:: PMC8562426

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Select item 85439408.

Neuropathology of SCA34 showing widespread oligodendroglial pathology with vacuolar white matter degeneration: a case study

Kokoro Ozaki, Takashi Irioka, Toshiki Uchihara, Akane Yamada, Ayako Nakamura, Takamasa Majima, Susumu Igarashi, Hiroshi Shintaku, Mayumi Yakeishi, Yukio Tsuura, Yasushi Okazaki, Kinya Ishikawa, Takanori Yokota

Acta Neuropathol Commun. 2021; 9: 172. Published online 2021 Oct 24. doi: 10.1186/s40478-021-01272-w

PMCID:: PMC8543940

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Select item 82170289.

The electrophysiological footprint of CACNA1A disorders

Elisabetta Indelicato, Iris Unterberger, Wolfgang Nachbauer, Andreas Eigentler, Matthias Amprosi, Fiona Zeiner, Edda Haberlandt, Manuela Kaml, Elke Gizewski, Sylvia Boesch

J Neurol. 2021; 268(7): 2493–2505. Published online 2021 Feb 5. doi: 10.1007/s00415-021-10415-x

PMCID:: PMC8217028

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Select item 812584510.

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

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Select item 793938511.

Disease-associated mutations in inositol 1,4,5-trisphosphate receptor subunits impair channel function

Lara E. Terry, Kamil J. Alzayady, Amanda M. Wahl, Sundeep Malik, David I. Yule

J Biol Chem. 2020 Dec 25; 295(52): 18160–18178. Published online 2021 Jan 13. doi: 10.1074/jbc.RA120.015683

PMCID:: PMC7939385

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Select item 692874912.

In Human and Mouse Spino-Cerebellar Tissue, Ataxin-2 Expansion Affects Ceramide-Sphingomyelin Metabolism

Nesli-Ece Sen, Aleksandar Arsovic, David Meierhofer, Susanne Brodesser, Carola Oberschmidt, Júlia Canet-Pons, Zeynep-Ece Kaya, Melanie-Vanessa Halbach, Suzana Gispert, Konrad Sandhoff, Georg Auburger

Int J Mol Sci. 2019 Dec; 20(23): 5854. Published online 2019 Nov 21. doi: 10.3390/ijms20235854

PMCID:: PMC6928749

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Select item 679030913.

Heterogeneous nonataxic phenotypes of spinocerebellar ataxia in a Taiwanese population

Szu‐Ju Chen, Ni‐Chung Lee, Yin‐Hsiu Chien, Wuh‐Liang Hwu, Chin‐Hsien Lin

Brain Behav. 2019 Oct; 9(10): e01414. Published online 2019 Sep 16. doi: 10.1002/brb3.1414

PMCID:: PMC6790309

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Select item 673017914.

A Mutant Ataxin-3 Putative-Cleavage Fragment in Brains of Machado-Joseph Disease Patients and Transgenic Mice Is Cytotoxic above a Critical Concentration

Daniel Goti, Scott M. Katzen, Jesse Mez, Noam Kurtis, Jennifer Kiluk, Lea Ben-Haïem, Nancy A. Jenkins, Neal G. Copeland, Akira Kakizuka, Alan H. Sharp, Christopher A. Ross, Peter R. Mouton, Veronica Colomer

J Neurosci. 2004 Nov 10; 24(45): 10266–10279. doi: 10.1523/JNEUROSCI.2734-04.2004

PMCID:: PMC6730179

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Select item 671840215.

The structural basis of lipid scrambling and inactivation in the endoplasmic reticulum scramblase TMEM16K

Simon R. Bushell, Ashley C. W. Pike, Maria E. Falzone, Nils J. G. Rorsman, Chau M. Ta, Robin A. Corey, Thomas D. Newport, John C. Christianson, Lara F. Scofano, Chitra A. Shintre, Annamaria Tessitore, Amy Chu, Qinrui Wang, Leela Shrestha, Shubhashish M. M. Mukhopadhyay, James D. Love, Nicola A. Burgess-Brown, Rebecca Sitsapesan, Phillip J. Stansfeld, Juha T. Huiskonen, Paolo Tammaro, Alessio Accardi, Elisabeth P. Carpenter

Nat Commun. 2019; 10: 3956. Published online 2019 Sep 2. doi: 10.1038/s41467-019-11753-1

PMCID:: PMC6718402

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Select item 661791016.

Identification of a novel mutation in the CACNA1C gene in a Chinese family with autosomal dominant cerebellar ataxia

Jiajun Chen, Yajuan Sun, Xiaoyang Liu, Jia Li

BMC Neurol. 2019; 19: 157. Published online 2019 Jul 10. doi: 10.1186/s12883-019-1381-8

PMCID:: PMC6617910

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Select item 614832317.

Branching Enzyme Deficiency: Expanding the Clinical Spectrum

Carmen Paradas, Hasan O. Akman, Carolina Ionete, Heather Lau, Peter N. Riskind, David E. Jones, Thomas W. Smith, Michio Hirano, Salvatore DiMauro

JAMA Neurol. Author manuscript; available in PMC 2018 Sep 21.

Published in final edited form as: JAMA Neurol. 2014 Jan; 71(1): 41–47. doi: 10.1001/jamaneurol.2013.4888

PMCID:: PMC6148323

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Select item 608925118.

Dystonia and ataxia progression in spinocerebellar ataxias

Pei-Hsin Kuo, Shi-Rui Gan, Jie Wang, Raymond Y. Lo, Karla P. Figueroa, Darya Tomishon, Stefan M. Pulst, Susan Perlman, George Wilmot, Christopher M. Gomez, Jeremy D. Schmahmann, Henry Paulson, Vikram G. Shakkottai, Sarah H. Ying, Theresa Zesiewicz, Khalaf Bushara, Michael D. Geschwind, Guangbin Xia, S.H. Subramony, Tetsuo Ashizawa, Sheng-Han Kuo

Parkinsonism Relat Disord. Author manuscript; available in PMC 2018 Aug 13.

Published in final edited form as: Parkinsonism Relat Disord. 2017 Dec; 45: 75–80. Published online 2017 Oct 23. doi: 10.1016/j.parkreldis.2017.10.007

PMCID:: PMC6089251

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Select item 596648119.

Identification of a Splicing Mutation in ITPR1 via WES in a Chinese Early-Onset Spinocerebellar Ataxia Family

Li Wang, Ying Hao, Peng Yu, Zhenhua Cao, Jin Zhang, Xin Zhang, Yuanyuan Chen, Hao Zhang, Weihong Gu

Cerebellum. 2018; 17(3): 294–299. Published online 2017 Dec 1. doi: 10.1007/s12311-017-0896-z

PMCID:: PMC5966481

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Select item 568199620.

Regulatory Role of RNA Chaperone TDP-43 for RNA Misfolding and Repeat-Associated Translation in SCA31

Taro Ishiguro, Nozomu Sato, Morio Ueyama, Nobuhiro Fujikake, Chantal Sellier, Akemi Kanegami, Eiichi Tokuda, Bita Zamiri, Terence Gall-Duncan, Mila Mirceta, Yoshiaki Furukawa, Takanori Yokota, Keiji Wada, J. Paul Taylor, Christopher E. Pearson, Nicolas Charlet-Berguerand, Hidehiro Mizusawa, Yoshitaka Nagai, Kinya Ishikawa

Neuron. Author manuscript; available in PMC 2018 Apr 5.

Published in final edited form as: Neuron. 2017 Apr 5; 94(1): 108–124.e7. Published online 2017 Mar 23. doi: 10.1016/j.neuron.2017.02.046

PMCID:: PMC5681996

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