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Items: 1 to 20 of 68

1.
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
2.
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
3.
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
4.
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
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.
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
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.
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
9.
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
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.
Friedreich ataxia in Norway – an epidemiological, molecular and clinical study
Iselin Marie Wedding, Mette Kroken, Sandra Pilar Henriksen, Kaja Kristine Selmer, Torunn Fiskerstrand, Per Morten Knappskog, Tone Berge, Chantal ME Tallaksen
Orphanet J Rare Dis. 2015; 10: 108. Published online 2015 Sep 4. doi: 10.1186/s13023-015-0328-4
PMCID:
PMC4559212
AbstractArticlePDF–1.2M
13.
Rapid Flow Cytometry–Based Structural Maintenance of Chromosomes 1 (SMC1) Phosphorylation Assay for Identification of Ataxia-Telangiectasia Homozygotes and Heterozygotes
Shareef A. Nahas, Anthony W. Butch, Liutao Du, Richard A. Gatti
Clin Chem. Author manuscript; available in PMC 2010 Nov 13.
Published in final edited form as: Clin Chem. 2009 Mar; 55(3): 463–472. Published online 2009 Jan 15. doi: 10.1373/clinchem.2008.107128
PMCID:
PMC2980758
AbstractArticlePDF–1.0M
14.
The Versatile Functions of ATM Kinase
Rebecca J. Boohaker, Bo Xu
Biomed J. Author manuscript; available in PMC 2014 Aug 18.
Published in final edited form as: Biomed J. 2014 Jan-Feb; 37(1): 3–9. doi: 10.4103/2319-4170.125655
PMCID:
PMC4136744
AbstractArticlePDF–591K
15.
Large-Scale Functional RNAi Screen in C. elegans Identifies TGF-β and Notch Signaling Pathways as Modifiers of CACNA1A
Maria da Conceição Pereira, Sara Morais, Jorge Sequeiros, Isabel Alonso
ASN Neuro. 2016 Mar-Apr; 8(2): 1759091416637025. Published online 2016 Mar 18. doi: 10.1177/1759091416637025
PMCID:
PMC4811018
AbstractArticlePDF–825K
16.
High relative frequency of SCA1 in Poland reflecting a potential founder effect
Wioletta Krysa, Anna Sulek, Maria Rakowicz, Walentyna Szirkowiec, Jacek Zaremba
Neurol Sci. 2016; 37: 1319–1325. Published online 2016 May 19. doi: 10.1007/s10072-016-2594-x
PMCID:
PMC4956719
AbstractArticlePDF–544K
17.
Cerebellar ataxias: β‐III spectrin's interactions suggest common pathogenic pathways
Emma Perkins, Daumante Suminaite, Mandy Jackson
J Physiol. 2016 Aug 15; 594(16): 4661–4676. Published online 2016 Apr 24. doi: 10.1113/JP271195
PMCID:
PMC4983618
AbstractArticlePDF–1.1M
18.
Kaleidoscopic protein–protein interactions in the life and death of ataxin-1: new strategies against protein aggregation
Cesira de Chiara, Annalisa Pastore
Trends Neurosci. 2014 Apr; 37(4): 211–218. doi: 10.1016/j.tins.2014.02.003
PMCID:
PMC3988977
AbstractArticle
19.
Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient
Hiroyuki Morino, Ryosuke Miyamoto, Shizuo Ohnishi, Hirofumi Maruyama, Hideshi Kawakami
BMC Neurol. 2014; 14: 5. Published online 2014 Jan 7. doi: 10.1186/1471-2377-14-5
PMCID:
PMC3890717
AbstractArticlePDF–778K
20.
Olfactory Impairment in Familial Ataxias
Mariana Moscovich, Renato Puppi Munhoz, Helio A Teive, Salmo Raskin, Margaret J Carvalho, Egberto R Barbosa, Ronald Ranvaud, Jilin Liu, Karen McFarland, Tetsuo Ashizawa, Andrew J Lees, Laura Silveira-Moriyama
J Neurol Neurosurg Psychiatry. Author manuscript; available in PMC 2012 Dec 13.
Published in final edited form as: J Neurol Neurosurg Psychiatry. 2012 Oct; 83(10): 970–974. Published online 2012 Jul 11. doi: 10.1136/jnnp-2012-302770
PMCID:
PMC3521149
AbstractArticlePDF–1.0M

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