PMC Articles for MedGen (Select 908281) - PMC

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

Article PDF–3.7M

Select item 99287394.

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

Article PDF–757K

Select item 98936485.

Allele-specific quantitation of ATXN3 and HTT transcripts in polyQ disease models

Paweł Joachimiak, Adam Ciesiołka, Emilia Kozłowska, Paweł M. Świtoński, Grzegorz Figura, Agata Ciołak, Grażyna Adamek, Magdalena Surdyka, Żaneta Kalinowska-Pośka, Maciej Figiel, Nicholas S. Caron, Michael R. Hayden, Agnieszka Fiszer

BMC Biol. 2023; 21: 17. Published online 2023 Feb 1. doi: 10.1186/s12915-023-01515-3

PMCID:: PMC9893648

Article PDF–1.8M

Select item 97278566.

Spinocerebellar ataxia type 17-digenic TBP/STUB1 disease: neuropathologic features of an autopsied patient

Rie Saito, Yui Tada, Daisuke Oikawa, Yusuke Sato, Makiko Seto, Akira Satoh, Kodai Kume, Nozomi Ueki, Masahiro Nakashima, Shintaro Hayashi, Yasuko Toyoshima, Fuminori Tokunaga, Hideshi Kawakami, Akiyoshi Kakita

Acta Neuropathol Commun. 2022; 10: 177. Published online 2022 Dec 7. doi: 10.1186/s40478-022-01486-6

PMCID:: PMC9727856

Article PDF–1.6M

Select item 96644817.

Targeting RTN4/NoGo-Receptor reduces levels of ALS protein ataxin-2

Caitlin M. Rodriguez, Sophia C. Bechek, Graham L. Jones, Lisa Nakayama, Tetsuya Akiyama, Garam Kim, David E. Solow-Cordero, Stephen M. Strittmatter, Aaron D. Gitler

Cell Rep. Author manuscript; available in PMC 2022 Nov 15.

Published in final edited form as: Cell Rep. 2022 Oct 25; 41(4): 111505. doi: 10.1016/j.celrep.2022.111505

PMCID:: PMC9664481

Article PDF–1.0M

Select item 96644528.

Genome-wide CRISPR screen reveals v-ATPase as a drug target to lower levels of ALS protein ataxin-2

Garam Kim, Lisa Nakayama, Jacob A. Blum, Tetsuya Akiyama, Steven Boeynaems, Meenakshi Chakraborty, Julien Couthouis, Eduardo Tassoni-Tsuchida, Caitlin M. Rodriguez, Michael C. Bassik, Aaron D. Gitler

Cell Rep. Author manuscript; available in PMC 2022 Nov 15.

Published in final edited form as: Cell Rep. 2022 Oct 25; 41(4): 111508. doi: 10.1016/j.celrep.2022.111508

PMCID:: PMC9664452

Article PDF–1.6M

Select item 93025349.

Frequency of spinocerebellar ataxia mutations in patients with multiple system atrophy

Anna I. Wernick, Ronald L. Walton, Alexandra I. Soto-Beasley, Shunsuke Koga, Michael G. Heckman, Rebecca R. Valentino, Lukasz M. Milanowski, Dorota Hoffman-Zacharska, Dariusz Koziorowski, Anhar Hassan, Ryan J. Uitti, William P. Cheshire, Wolfgang Singer, Zbigniew K. Wszolek, Dennis W. Dickson, Phillip A. Low, Owen A. Ross

Clin Auton Res. Author manuscript; available in PMC 2022 Jul 21.

Published in final edited form as: Clin Auton Res. 2021 Feb; 31(1): 117–125. Published online 2021 Jan 27. doi: 10.1007/s10286-020-00759-1

PMCID:: PMC9302534

Article PDF–398K

Select item 929234510.

Serine/threonine kinase 17b (STK17B) signalling regulates Purkinje cell dendritic development and is altered in multiple spinocerebellar ataxias

Qin‐Wei Wu, Josef P. Kapfhammer

Eur J Neurosci. 2021 Oct; 54(7): 6673–6684. Published online 2021 Sep 29. doi: 10.1111/ejn.15465

PMCID:: PMC9292345

Article PDF–14M

Select item 871912411.

Vocal cord paralysis as a presenting sign of autosomal recessive spinocerebellar atrophy type 10

David Vaughan, Adrinda Affendi, Patrick Sheahan, Brian Sweeney

BMJ Case Rep. 2021; 14(12): e245484. Published online 2021 Dec 30. doi: 10.1136/bcr-2021-245484

PMCID:: PMC8719124

Article PDF–250K

Select item 855361712.

Germline ATM variants predispose to melanoma: a joint analysis across the GenoMEL and MelaNostrum consortia

B. Dalmasso, L. Pastorino, V. Nathan, N. N. Shah, J. M. Palmer, M. Howlie, P. A. Johansson, N. D. Freedman, B. D. Carter, L. Beane-Freeman, B. Hicks, A. Molven, H. Helgadottir, A. Sankar, H. Tsao, A. J. Stratigos, P. Helsing, R. Van Doorn, N. A. Gruis, M. Visser, K. A. W. Wadt, G. Mann, E. A. Holland, E. Nagore, M. Potrony, S. Puig, C. Menin, K. Peris, M. C. Fargnoli, D. Calista, N. Soufir, M. Harland, T. Bishop, P. A. Kanetsky, D. E. Elder, V. Andreotti, I. Vanni, W. Bruno, V. Höiom, M. A. Tucker, X. R. Yang, P. A. Andresen, D. J. Adams, M. T. Landi, N. K. Hayward, A. M. Goldstein, P. Ghiorzo, The GenoMEL, MelaNostrum consortia

Genet Med. 2021; 23(11): 2087–2095. Published online 2021 Jul 14. doi: 10.1038/s41436-021-01240-8

PMCID:: PMC8553617

Article PDF–660K

Select item 793908913.

A New Mouse Model Related to SCA14 Carrying a Pseudosubstrate Domain Mutation in PKCγ Shows Perturbed Purkinje Cell Maturation and Ataxic Motor Behavior

Etsuko Shimobayashi, Josef P. Kapfhammer

J Neurosci. 2021 Mar 3; 41(9): 2053–2068. doi: 10.1523/JNEUROSCI.1946-20.2021

PMCID:: PMC7939089

Article PDF–4.6M

Select item 793088614.

Antisense oligonucleotide therapy targeted against ATXN3 improves potassium channel-mediated Purkinje neuron dysfunction in spinocerebellar ataxia type 3

David D. Bushart, Annie J. Zalon, Hongjiu Zhang, Logan M. Morrison, Yuanfang Guan, Henry L. Paulson, Vikram G. Shakkottai, Hayley S. McLoughlin

Cerebellum. Author manuscript; available in PMC 2022 Feb 1.

Published in final edited form as: Cerebellum. 2021 Feb; 20(1): 41–53. doi: 10.1007/s12311-020-01179-7

PMCID:: PMC7930886

Article PDF–934K

Select item 750710015.

Clinical features and genetic characteristics of homozygous spinocerebellar ataxia type 3

Quan-Fu Li, Hao‐Ling Cheng, Lu Yang, Yin Ma, Jing‐Jing Zhao, Yi Dong, Zhi‐Ying Wu

Mol Genet Genomic Med. 2020 Sep; 8(9): e1314. Published online 2020 Jul 9. doi: 10.1002/mgg3.1314

PMCID:: PMC7507100

Article PDF–860K

Select item 718247016.

A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders

Kathie J. Ngo, Jessica E. Rexach, Hane Lee, Lauren E. Petty, Susan Perlman, Juliana M. Valera, Joshua L. Deignan, Yuanming Mao, Mamdouh Aker, Jennifer E. Posey, Shalini N. Jhangiani, Zeynep H. Coban-Akdemir, Eric Boerwinkle, Donna Muzny, Alexandra B. Nelson, Sharon Hassin-Baer, Gemma Poke, Katherine Neas, Michael D. Geschwind, Wayne W. Grody, Richard Gibbs, Daniel H. Geschwind, James R. Lupski, Jennifer E. Below, Stanley F. Nelson, Brent L. Fogel

Hum Mutat. Author manuscript; available in PMC 2021 Feb 1.

Published in final edited form as: Hum Mutat. 2020 Feb; 41(2): 487–501. Published online 2019 Nov 25. doi: 10.1002/humu.23946