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Items: 1 to 20 of 500

1.
Cowchock Syndrome Is Associated with a Mutation in Apoptosis-Inducing Factor
Carlo Rinaldi, Christopher Grunseich, Irina F. Sevrioukova, Alice Schindler, Iren Horkayne-Szakaly, Costanza Lamperti, Guida Landouré, Marina L. Kennerson, Barrington G. Burnett, Carsten Bönnemann, Leslie G. Biesecker, Daniele Ghezzi, Massimo Zeviani, Kenneth H. Fischbeck
Am J Hum Genet. 2012 Dec 7; 91(6): 1095–1102. doi: 10.1016/j.ajhg.2012.10.008
PMCID:
PMC3516602
AbstractArticlePDF–1.0M
2.
A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease
Daria Diodato, Giorgio Tasca, Daniela Verrigni, Adele D'Amico, Teresa Rizza, Giulia Tozzi, Diego Martinelli, Margherita Verardo, Federica Invernizzi, Alessia Nasca, Emanuele Bellacchio, Daniele Ghezzi, Fiorella Piemonte, Carlo Dionisi-Vici, Rosalba Carrozzo, Enrico Bertini
Eur J Hum Genet. 2016 Mar; 24(3): 463–466. Published online 2015 Jul 15. doi: 10.1038/ejhg.2015.141
PMCID:
PMC4755377
AbstractArticlePDF–1.1M
3.
A Novel Missense Mutation in AIFM1 Results in Axonal Polyneuropathy and Misassembly of OXPHOS Complexes
Bo Hu, Michael Wang, Ryan Castoro, Megan Simmons, Richard Dortch, Robin Yawn, Jun Li
Eur J Neurol. Author manuscript; available in PMC 2018 Dec 1.
Published in final edited form as: Eur J Neurol. 2017 Dec; 24(12): 1499–1506. Published online 2017 Oct 7. doi: 10.1111/ene.13452
PMCID:
PMC5693754
AbstractArticlePDF–765K
4.
Whole-exome sequencing detected a novel AIFM1 variant in a Han-Chinese family with Cowchock syndrome
Chenyu Wang, Zhaojing Lin, ZhuangZhuang Yuan, Tieyu Tang, Liangliang Fan, Yihui Liu, Xuan Wu
Hereditas. 2023; 160: 22. Published online 2023 May 12. doi: 10.1186/s41065-023-00282-z
PMCID:
PMC10176718
AbstractArticlePDF–3.8M
5.
EMQN Best Practice Guidelines for molecular genetic testing of SCAs
Jorge Sequeiros, Joanne Martindale, Sara Seneca, following a EMQN Best Practice Meeting, 17–19 October 2007, Porto, Portugal, as a part of the EU Network of Excellence EuroGentest, and subsequent electronic group discussion in 2008. Endorsed by the EMQN board in 2009
Eur J Hum Genet. 2010 Nov; 18(11): 1173–1176. Published online 2010 Feb 24. doi: 10.1038/ejhg.2010.8
Correction in:
Eur J Hum Genet. 2010 Nov; 18(11): 1176–1177.
PMCID:
PMC2987475
AbstractArticlePDF–179K
6.
Repeat-associated non-AUG translation induces cytoplasmic aggregation of CAG repeat-containing RNAs
Michael R. Das, Yeonji Chang, Rachel Anderson, Reuben A. Saunders, Nan Zhang, Colson P. Tomberlin, Ronald D. Vale, Ankur Jain
Proc Natl Acad Sci U S A. 2023 Jan 17; 120(3): e2215071120. Published online 2023 Jan 9. doi: 10.1073/pnas.2215071120
PMCID:
PMC9934169
AbstractArticlePDF–5.1M
7.
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
AbstractArticlePDF–2.2M
8.
Truncating Variants in RFC1 in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome
Riccardo Ronco, Cecilia Perini, Riccardo Currò, Natalia Dominik, Stefano Facchini, Alice Gennari, Roberto Simone, Skye Stuart, Sara Nagy, Elisa Vegezzi, Ilaria Quartesan, Amar El-Saddig, Timothy Lavin, Arianna Tucci, Agnieszka Szymura, Luiz Eduardo Novis De Farias, Alexander Gary, Megan Delfeld, Priscilla Kandikatla, Nifang Niu, Sanjukta Tawde, Joseph Shaw, James Polke, Mary M. Reilly, Nick W. Wood, Emmanuele Crespan, Christopher Gomez, Jin Yun Helen Chen, Jeremy Dan Schmahmann, David Gosal, Henry Houlden, Soma Das, Andrea Cortese
Neurology. 2023 Jan 31; 100(5): e543–e554. doi: 10.1212/WNL.0000000000201486
PMCID:
PMC9931080
AbstractArticlePDF–683K
9.
Rare Germline ATM Variants Influence the Development of Chronic Lymphocytic Leukemia
Benjamin L. Lampson, Aditi Gupta, Svitlana Tyekucheva, Kiyomi Mashima, Anna Petráčková, Zixu Wang, Natalia Wojciechowska, Conner J. Shaughnessy, Peter O. Baker, Stacey M. Fernandes, Samantha Shupe, John-Hanson Machado, Rayan Fardoun, Annette S. Kim, Jennifer R. Brown
J Clin Oncol. 2023 Feb 10; 41(5): 1116–1128. Published online 2022 Oct 31. doi: 10.1200/JCO.22.00269
PMCID:
PMC9928739
AbstractArticlePDF–757K
10.
Selective ATM inhibition augments radiation-induced inflammatory signaling and cancer cell death
Li-Ya Chiu, Qing Sun, Frank T. Zenke, Andree Blaukat, Lyubomir T. Vassilev
Aging (Albany NY) 2023 Jan 31; 15(2): 492–512. Published online 2023 Jan 17. doi: 10.18632/aging.204487
PMCID:
PMC9925676
AbstractArticlePDF–2.4M
11.
Ovarian and uterine carcinosarcomas are sensitive in vitro and in vivo to Elimusertib, a novel ataxia-telangiectasia and Rad3-related (ATR) kinase inhibitor
Diego D. Manavella, Blair McNamara, Justin Harold, Stefania Bellone, Tobias Max Philipp Hartwich, Yang Yang-Hartwich, Levent Mutlu, Margherita Zipponi, Cem Demirkiran, Miguel Skyler Verzosa, Gary Altwerger, Elena Ratner, Gloria S. Huang, Mitchell Clark, Vaagn Andikyan, Masoud Azodi, Peter E. Schwartz, Peter R. Dottino, Jungmin Choi, Ludmil B. Alexandrov, Natalia Buza, Pei Hui, Alessandro D. Santin
Gynecol Oncol. Author manuscript; available in PMC 2024 Feb 1.
Published in final edited form as: Gynecol Oncol. 2023 Feb; 169: 98–105. Published online 2022 Dec 14. doi: 10.1016/j.ygyno.2022.12.003
PMCID:
PMC9925406
AbstractArticlePDF–624K
12.
Spinocerebellar Ataxia in a Hungarian Female Patient with a Novel Variant of Unknown Significance in the CCDC88C Gene
Fanni Annamária Boros, László Szpisjak, Renáta Bozó, Evelyn Kelemen, Dénes Zádori, András Salamon, Judit Danis, Tibor Kalmár, Zoltán Maróti, Mária Judit Molnár, Péter Klivényi, Márta Széll, Éva Ádám
Int J Mol Sci. 2023 Feb; 24(3): 2617. Published online 2023 Jan 30. doi: 10.3390/ijms24032617
PMCID:
PMC9916980
AbstractArticlePDF–1.7M
13.
Ataxia Telangiectasia Mutated and MSH2 Control Blunt DNA End Joining in Ig Class Switch Recombination
Emily Sible, Mary Attaway, Giuseppe Fiorica, Genesis Michel, Jayanta Chaudhuri, Bao Q. Vuong
J Immunol. 2023 Feb 15; 210(4): 369–376. Published online 2023 Jan 4. doi: 10.4049/jimmunol.2200590
PMCID:
PMC9915862
AbstractArticlePDF–822K
14.
Galectin-9 blockade synergizes with ATM inhibition to induce potent anti-tumor immunity
Shuang Zheng, Jiaming Song, Dongli Linghu, Riyao Yang, Boning Liu, Zhen Xue, Qihui Chen, Chengjie Liu, Diansheng Zhong, Mien-Chie Hung, Linlin Sun
Int J Biol Sci. 2023; 19(3): 981–993. Published online 2023 Jan 16. doi: 10.7150/ijbs.79852
PMCID:
PMC9909994
AbstractArticlePDF–5.8M
15.
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
AbstractArticlePDF–1.8M
16.
Staufen Impairs Autophagy in Neurodegeneration
Sharan Paul, Warunee Dansithong, Mandi Gandelman, Karla P. Figueroa, Tao Zu, Laura P. W. Ranum, Daniel R. Scoles, Stefan M. Pulst
Ann Neurol. Author manuscript; available in PMC 2023 Feb 2.
Published in final edited form as: Ann Neurol. 2023 Feb; 93(2): 398–416. Published online 2022 Oct 27. doi: 10.1002/ana.26515
PMCID:
PMC9892312
AbstractArticlePDF–1.7M
17.
The roles of NOP56 in cancer and SCA36
Shimin Zhao, Dongdong Zhang, Sicheng Liu, Jun Huang
Pathol Oncol Res. 2023; 29: 1610884. Published online 2023 Jan 19. doi: 10.3389/pore.2023.1610884
PMCID:
PMC9892063
AbstractArticlePDF–1.0M
18.
Spinocerebellar ataxia in the Bouvier des Ardennes breed is caused by a KCNJ10 missense variant
Kimberley Stee, Mario Van Poucke, Martí Pumarola, Lise Geerinckx, Iris Van Soens, Sofie F. M. Bhatti, Luc Peelman, Ine Cornelis
J Vet Intern Med. 2023 Jan-Feb; 37(1): 216–222. Published online 2022 Nov 25. doi: 10.1111/jvim.16594
PMCID:
PMC9889618
AbstractArticlePDF–1.5M
19.
Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders
Lydie Burglen, Evelien Van Hoeymissen, Leila Qebibo, Magalie Barth, Newell Belnap, Felix Boschann, Christel Depienne, Katrien De Clercq, Andrew GL Douglas, Mark P Fitzgerald, Nicola Foulds, Catherine Garel, Ingo Helbig, Katharina Held, Denise Horn, Annelies Janssen, Angela M Kaindl, Vinodh Narayanan, Christina Prager, Mailys Rupin-Mas, Alexandra Afenjar, Siyuan Zhao, Vincent Th Ramaekers, Sarah M Ruggiero, Simon Thomas, Stéphanie Valence, Lionel Van Maldergem, Tibor Rohacs, Diana Rodriguez, David Dyment, Thomas Voets, Joris Vriens
eLife. 2023; 12: e81032. Published online 2023 Jan 17. doi: 10.7554/eLife.81032
PMCID:
PMC9886277
AbstractArticlePDF–3.5M
20.
Common Variants Near ZIC1 and ZIC4 in Autopsy-Confirmed Multiple System Atrophy
Franziska Hopfner, Anja K. Tietz, Viktoria C. Ruf, Owen A. Ross, Shunsuke Koga, Dennis Dickson, Adriano Aguzzi, Johannes Attems, Thomas Beach, Allison Beller, William P. Cheshire, Vivianna van Deerlin, Paula Desplats, Günther Deuschl, Charles Duyckaerts, David Ellinghaus, Valentin Evsyukov, Margaret Ellen Flanagan, Andre Franke, Matthew P. Frosch, Marla Gearing, Ellen Gelpi, Jay A. van Gerpen, Bernardino Ghetti, Jonathan D. Glass, Lea T. Grinberg, Glenda Halliday, Ingo Helbig, Matthias Höllerhage, Inge Huitinga, David John Irwin, Dirk C. Keene, Gabor G. Kovacs, Edward B. Lee, Johannes Levin, Maria J. Martí, Ian Mackenzie, Ian McKeith, Catriona Mclean, Brit Mollenhauer, Manuela Neumann, Kathy L. Newell, Alex Pantelyat, Manuela Pendziwiat, Annette Peters, Laura Molina Porcel, Alberto Rabano, Radoslav Matěj, Alex Rajput, Ali Rajput, Regina Reimann, William K. Scott, William Seeley, Sashika Selvackadunco, Tanya Simuni, Christine Stadelmann, Per Svenningsson, Alan Thomas, Claudia Trenkwalder, Claire Troakes, John Q. Trojanowski, Ryan J. Uitti, Charles L. White, Zbigniew K. Wszolek, Tao Xie, Teresa Ximelis, Yebenes Justo, Alzheimer’s Disease Genetics Consortium, Ulrich Müller, Gerard D. Schellenberg, Jochen Herms, Gregor Kuhlenbäumer, Günter Höglinger
Mov Disord. Author manuscript; available in PMC 2023 Oct 1.
Published in final edited form as: Mov Disord. 2022 Oct; 37(10): 2110–2121. Published online 2022 Aug 23. doi: 10.1002/mds.29164
PMCID:
PMC10052809
AbstractArticlePDF–1.2M

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