U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from MedGen

Items: 1 to 20 of 65

1.
Mutations in NOTCH3 Gene may Promote the Clinical Presentation of Spinocerebellar Ataxia Type 37 Caused by Mutations in DAB1 Gene
Zhao-Wei Wang, Li-Ping Wang, Ye Du, Qi Liu
Front Mol Biosci. 2021; 8: 668312. Published online 2021 Jun 16. doi: 10.3389/fmolb.2021.668312
PMCID:
PMC8243652
AbstractArticlePDF–2.4M
2.
A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia
Ana I. Seixas, Joana R. Loureiro, Cristina Costa, Andrés Ordóñez-Ugalde, Hugo Marcelino, Cláudia L. Oliveira, José L. Loureiro, Ashutosh Dhingra, Eva Brandão, Vitor T. Cruz, Angela Timóteo, Beatriz Quintáns, Guy A. Rouleau, Patrizia Rizzu, Ángel Carracedo, José Bessa, Peter Heutink, Jorge Sequeiros, Maria J. Sobrido, Paula Coutinho, Isabel Silveira
Am J Hum Genet. 2017 Jul 6; 101(1): 87–103. Published online 2017 Jul 6. doi: 10.1016/j.ajhg.2017.06.007
PMCID:
PMC5501871
AbstractArticlePDF–3.9M
3.
Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia with DAB1 and C9ORF72 Repeat Expansions: An 18‐Year Study
Angela Rosenbohm, Hendrik Pott, Mirja Thomsen, Haloom Rafehi, Sabine Kaya, Silke Szymczak, Alexander E. Volk, Kathrin Mueller, Isabel Silveira, Jochen H. Weishaupt, Holger Tönnies, Philip Seibler, Katja Zschiedrich, Susen Schaake, Ana Westenberger, Christine Zühlke, Christel Depienne, Joanne Trinh, Albert C. Ludolph, Christine Klein, Melanie Bahlo, Katja Lohmann
Mov Disord. 2022 Dec; 37(12): 2427–2439. Published online 2022 Sep 23. doi: 10.1002/mds.29221
PMCID:
PMC10900262
AbstractArticlePDF–2.1M
4.
Advances in Nucleotide Repeat Expansion Diseases: Transcription Gets in Phase
Ana S. Figueiredo, Joana R. Loureiro, Sandra Macedo-Ribeiro, Isabel Silveira
Cells. 2023 Mar; 12(6): 826. Published online 2023 Mar 7. doi: 10.3390/cells12060826
PMCID:
PMC10047669
AbstractArticlePDF–2.3M
5.
Mechanistic and Therapeutic Insights into Ataxic Disorders with Pentanucleotide Expansions
Nan Zhang, Tetsuo Ashizawa
Cells. 2022 May; 11(9): 1567. Published online 2022 May 6. doi: 10.3390/cells11091567
PMCID:
PMC9099484
AbstractArticlePDF–1.5M
6.
Molecular Mechanisms in Pentanucleotide Repeat Diseases
Joana R. Loureiro, Ana F. Castro, Ana S. Figueiredo, Isabel Silveira
Cells. 2022 Jan; 11(2): 205. Published online 2022 Jan 8. doi: 10.3390/cells11020205
PMCID:
PMC8773600
AbstractArticlePDF–1.9M
7.
Structures and conformational dynamics of DNA minidumbbells in pyrimidine-rich repeats associated with neurodegenerative diseases
Yuan Liu, Liqi Wan, Cheuk Kit Ngai, Yang Wang, Sik Lok Lam, Pei Guo
Comput Struct Biotechnol J. 2023; 21: 1584–1592. Published online 2023 Feb 7. doi: 10.1016/j.csbj.2023.02.010
PMCID:
PMC9975016
AbstractArticlePDF–4.8M
8.
ATTCT and ATTCC repeat expansions in the ATXN10 gene affect disease penetrance of spinocerebellar ataxia type 10
C. Alejandra Morato Torres, Faria Zafar, Yu-Chih Tsai, Jocelyn Palafox Vazquez, Michael D. Gallagher, Ian McLaughlin, Karl Hong, Jill Lai, Joyce Lee, Amanda Chirino-Perez, Angel Omar Romero-Molina, Francisco Torres, Juan Fernandez-Ruiz, Tetsuo Ashizawa, Janet Ziegle, Francisco Javier Jiménez Gil, Birgitt Schüle
HGG Adv. 2022 Oct 13; 3(4): 100137. Published online 2022 Aug 15. doi: 10.1016/j.xhgg.2022.100137
PMCID:
PMC9460507
AbstractArticlePDF–1.6M
9.
Prevalence of RFC1-mediated spinocerebellar ataxia in a North American ataxia cohort
Dona Aboud Syriani, Darice Wong, Sameer Andani, Claudio M. De Gusmao, Yuanming Mao, May Sanyoura, Giacomo Glotzer, Paul J. Lockhart, Sharon Hassin-Baer, Vikram Khurana, Christopher M. Gomez, Susan Perlman, Soma Das, Brent L. Fogel
Neurol Genet. 2020 Jun; 6(3): e440. Published online 2020 May 20. doi: 10.1212/NXG.0000000000000440
PMCID:
PMC7274910
AbstractArticlePDF–226K
10.
Spinocerebellar ataxia type 10 (SCA10): Mutation analysis and common haplotype based inference suggest its rarity in Indian population
Divya Goel, Varun Suroliya, Uzma Shamim, Aradhna Mathur, Mohammed Faruq
eNeurologicalSci. 2019 Dec; 17: 100211. Published online 2019 Oct 24. doi: 10.1016/j.ensci.2019.100211
PMCID:
PMC6849144
AbstractArticlePDF–513K
11.
HR23B pathology preferentially co-localizes with p62, pTDP-43 and poly-GA in C9ORF72-linked frontotemporal dementia and amyotrophic lateral sclerosis
Frederike W. Riemslagh, Hannes Lans, Harro Seelaar, Lies-Anne W. F. M. Severijnen, Shamiram Melhem, Wim Vermeulen, Eleonora Aronica, R. Jeroen Pasterkamp, John C. van Swieten, Rob Willemsen
Acta Neuropathol Commun. 2019; 7: 39. Published online 2019 Mar 13. doi: 10.1186/s40478-019-0694-6
PMCID:
PMC6416930
AbstractArticlePDF–2.0M
12.
Novel genotype–phenotype correlations, differential cerebellar allele-specific methylation, and a common origin of the (ATTTC)n insertion in spinocerebellar ataxia type 37
Marina Sanchez-Flores, Marc Corral-Juan, Esther Gasch-Navalón, Davide Cirillo, Ivelisse Sanchez, Antoni Matilla-Dueñas
Hum Genet. 2024; 143(3): 211–232. Published online 2024 Feb 23. doi: 10.1007/s00439-024-02644-7
PMCID:
PMC11043136
AbstractArticlePDF–5.6M
13.
Generalized myokymia, or neuromyotonia, or both in dogs with or without spinocerebellar ataxia
An Vanhaesebrouck, Mario Van Poucke, Kimberley Stee, Nicolas Granger, Edward Ives, Iris Van Soens, Ine Cornelis, Kenny Bossens, Luc Peelman, Luc Van Ham, Sofie F. M. Bhatti
J Vet Intern Med. 2023 Nov-Dec; 37(6): 2310–2314. Published online 2023 Oct 31. doi: 10.1111/jvim.16892
PMCID:
PMC10658559
AbstractArticlePDF–424K
14.
The fructose-bisphosphate, Aldolase A (ALDOA), facilitates DNA-PKcs and ATM kinase activity to regulate DNA double-strand break repair
Thais Sobanski, Amila Suraweera, Joshua T. Burgess, Iain Richard, Chee Man Cheong, Keyur Dave, Maddison Rose, Mark N. Adams, Kenneth J. O’Byrne, Derek J. Richard, Emma Bolderson
Sci Rep. 2023; 13: 15171. Published online 2023 Sep 13. doi: 10.1038/s41598-023-41133-1
PMCID:
PMC10499815
AbstractArticlePDF–2.6M
15.
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
AbstractArticlePDF–3.7M
16.
Poly(A)-binding protein is an ataxin-2 chaperone that regulates biomolecular condensates
Steven Boeynaems, Yanniv Dorone, Yanrong Zhuang, Victoria Shabardina, Guozhong Huang, Anca Marian, Garam Kim, Anushka Sanyal, Nesli-Ece Şen, Daniel Griffith, Roberto Docampo, Keren Lasker, Iñaki Ruiz-Trillo, Georg Auburger, Alex S. Holehouse, Edor Kabashi, Yi Lin, Aaron D. Gitler
Mol Cell. Author manuscript; available in PMC 2024 Jun 15.
Published in final edited form as: Mol Cell. 2023 Jun 15; 83(12): 2020–2034.e6. Published online 2023 Jun 8. doi: 10.1016/j.molcel.2023.05.025
PMCID:
PMC10318123
AbstractArticlePDF–3.0M
17.
Clinically meaningful MR endpoints sensitive to preataxic SCA1 and SCA3
Jayashree Chandrasekaran, Emilien Petit, Young-Woo Park, Sophie Tezenas du Montcel, James M. Joers, Dinesh K. Deelchand, Michal Považan, Guita Banan, Romain Valabregue, Philipp Ehses, Jennifer Faber, Pierrick Coupé, Chiadi U. Onyike, Peter B. Barker, Jeremy D. Schmahmann, Eva-Maria Ratai, S. H. Subramony, Thomas H. Mareci, Khalaf O. Bushara, Henry Paulson, Alexandra Durr, Thomas Klockgether, Tetsuo Ashizawa, Christophe Lenglet, Gülin Öz, READISCA Consortium
Ann Neurol. Author manuscript; available in PMC 2024 Apr 1.
Published in final edited form as: Ann Neurol. 2023 Apr; 93(4): 686–701. Published online 2022 Dec 29. doi: 10.1002/ana.26573
PMCID:
PMC10261544
AbstractArticlePDF–2.6M
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.
Newborn screening for severe combined immunodeficiency: The results of the first pilot TREC and KREC study in Ukraine with involving of 10,350 neonates
Oksana Boyarchuk, Nataliia Yarema, Volodymyr Kravets, Oleksandra Shulhai, Ivanna Shymanska, Iryna Chornomydz, Tetyana Hariyan, Liubov Volianska, Maria Kinash, Halyna Makukh
Front Immunol. 2022; 13: 999664. Published online 2022 Sep 15. doi: 10.3389/fimmu.2022.999664
PMCID:
PMC9521488
AbstractArticlePDF–1.4M
20.
Calpains as novel players in the molecular pathogenesis of spinocerebellar ataxia type 17
Jonasz Jeremiasz Weber, Stefanie Cari Anger, Priscila Pereira Sena, Rana Dilara Incebacak Eltemur, Chrisovalantou Huridou, Florian Fath, Caspar Gross, Nicolas Casadei, Olaf Riess, Huu Phuc Nguyen
Cell Mol Life Sci. 2022 May; 79(5): 262. Published online 2022 Apr 28. doi: 10.1007/s00018-022-04274-6
PMCID:
PMC9050766
AbstractArticlePDF–5.5M

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center