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 21

1.
Quantitative Oculomotor Assessment in Hereditary Ataxia: Discriminatory Power, Correlation with Severity Measures, and Recommended Parameters for Specific Genotypes
Pilar Garces, Chrystalina A. Antoniades, Anna Sobanska, Norbert Kovacs, Sarah H. Ying, Anoopum S. Gupta, Susan Perlman, David J. Szmulewicz, Chiara Pane, Andrea H. Németh, Laura B. Jardim, Giulia Coarelli, Michaela Dankova, Andreas Traschütz, Alexander A. Tarnutzer
Cerebellum. 2024; 23(1): 121–135. Published online 2023 Jan 14. doi: 10.1007/s12311-023-01514-8
PMCID:
PMC10864420
ArticlePDF–1.0M
2.
Repeat expansions in NOP56 are a cause of spinocerebellar ataxia Type 36 in the British population
Tanya Lam, Clarissa Rocca, Kristina Ibanez, Anupriya Dalmia, Samuel Tallman, Marios Hadjivassiliou, Anke Hensiek, Andrea Nemeth, Stefano Facchini, Genomics England Research Consortium , Nicholas Wood, Andrea Cortese, Henry Houlden, Arianna Tucci
Brain Commun. 2023; 5(5): fcad244. Published online 2023 Sep 14. doi: 10.1093/braincomms/fcad244
PMCID:
PMC10558097
ArticlePDF–2.4M
3.
Spinocerebellar Ataxia 36 is a Frequent Cause of Hereditary Ataxia in Eastern Spain
Raquel Baviera‐Muñoz, Lidón Carretero‐Vilarroig, Nuria Muelas, Rafael Sivera, Pablo Sopena‐Novales, Begoña Martínez‐Sanchis, Isabel Sastre‐Bataller, Marina Campins‐Romeu, Irene Martínez‐Torres, Jose Manuel García‐Verdugo, Jose M. Millán, Teresa Jaijo, Elena Aller, Luis Bataller
Mov Disord Clin Pract. 2023 Jun; 10(6): 992–997. Published online 2023 May 5. doi: 10.1002/mdc3.13740
PMCID:
PMC10272893
ArticlePDF–860K
4.
A Chinese SCA36 pedigree analysis of NOP56 expansion region based on long-read sequencing
Jinlong Zou, Fengyu Wang, Zhenping Gong, Runrun Wang, Shuai Chen, Haohan Zhang, Ruihua Sun, Chenhao Gao, Wei Li, Junkui Shang, Jiewen Zhang
Front Genet. 2023; 14: 1110307. Published online 2023 Mar 27. doi: 10.3389/fgene.2023.1110307
PMCID:
PMC10083286
ArticlePDF–2.6M
5.
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
ArticlePDF–1.0M
6.
Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain
Raquel Baviera-Muñoz, Lidón Carretero-Vilarroig, Juan Francisco Vázquez-Costa, Carlos Morata-Martínez, Marina Campins-Romeu, Nuria Muelas, Isabel Sastre-Bataller, Irene Martínez-Torres, Julia Pérez-García, Rafael Sivera, Teresa Sevilla, Juan J. Vilchez, Teresa Jaijo, Carmen Espinós, Jose M. Millán, Luis Bataller, Elena Aller
Neurol Genet. 2022 Dec; 8(6): e200038. Published online 2022 Nov 14. doi: 10.1212/NXG.0000000000200038
PMCID:
PMC9749935
ArticlePDF–341K
7.
A nop56 Zebrafish Loss-of-Function Model Exhibits a Severe Neurodegenerative Phenotype
Ana Quelle-Regaldie, Mónica Folgueira, Julián Yáñez, Daniel Sobrido-Cameán, Anabel Alba-González, Antón Barreiro-Iglesias, María-Jesús Sobrido, Laura Sánchez
Biomedicines. 2022 Aug; 10(8): 1814. Published online 2022 Jul 28. doi: 10.3390/biomedicines10081814
PMCID:
PMC9404972
ArticlePDF–11M
8.
Spinocerebellar Ataxia 36: From Mutations Toward Therapies
Samuel Lopez, Fang He
Front Genet. 2022; 13: 837690. Published online 2022 Mar 4. doi: 10.3389/fgene.2022.837690
PMCID:
PMC8931325
ArticlePDF–865K
9.
Repeats expansions in ATXN2, NOP56, NIPA1 and ATXN1 are not associated with ALS in Africans
Melissa Nel, Thandeka Mavundla, Kayleigh Gultig, Gerrit Botha, Nicola Mulder, Michael Benatar, Joanne Wuu, Anne Cooley, Jason Myers, Evadnie Rampersaud, Gang Wu, Jeannine M. Heckmann
IBRO Neurosci Rep. 2021 Jun; 10: 130–135. Published online 2021 Feb 10. doi: 10.1016/j.ibneur.2021.02.002
PMCID:
PMC8211917
ArticlePDF–964K
10.
Chimeric peptide species contribute to divergent dipeptide repeat pathology in c9ALS/FTD and SCA36
Zachary T. McEachin, Tania F. Gendron, Nisha Raj, María García-Murias, Anwesha Banerjee, Ryan Purcell, Patricia J. Ward, Tiffany W. Todd, Megan E. Merritt-Garza, Karen Jansen-West, Chadwick M. Hales, Tania García-Sobrino, Beatriz Quintáns, Christopher J. Holler, Georgia Taylor, Beatriz San Millán, Susana Teijeira, Toru Yamashita, Ryuichi Ohkubo, Nicholas M. Boulis, Chongchong Xu, Zhexing Wen, Nathalie Streichenberger, Neuro-CEB Neuropathology Network, Brent L. Fogel, Thomas Kukar, Koji Abe, Dennis W. Dickson, Manuel Arias, Jonathan D. Glass, Jie Jiang, Malú G. Tansey, María-Jesús Sobrido, Leonard Petrucelli, Wilfried Rossoll, Gary J. Bassell
Neuron. Author manuscript; available in PMC 2021 Jul 22.
Published in final edited form as: Neuron. 2020 Jul 22; 107(2): 292–305.e6. Published online 2020 May 5. doi: 10.1016/j.neuron.2020.04.011
PMCID:
PMC8138626
ArticlePDF–2.0M
11.
Hexanucleotide Repeat Expansions in c9FTD/ALS and SCA36 Confer Selective Patterns of Neurodegeneration In Vivo
Tiffany W. Todd, Zachary T. McEachin, Jeannie Chew, Alexander R. Burch, Karen Jansen-West, Jimei Tong, Mei Yue, Yuping Song, Monica Castanedes-Casey, Aishe Kurti, Judith H. Dunmore, John D. Fryer, Yong-Jie Zhang, Beatriz San Millan, Susana Teijeira Bautista, Manuel Arias, Dennis Dickson, Tania F. Gendron, María-Jesús Sobrido, Matthew D. Disney, Gary J. Bassell, Wilfried Rossoll, Leonard Petrucelli
Cell Rep. Author manuscript; available in PMC 2020 Sep 9.
Published in final edited form as: Cell Rep. 2020 May 5; 31(5): 107616. doi: 10.1016/j.celrep.2020.107616
PMCID:
PMC7480900
ArticlePDF–1.2M
12.
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
ArticlePDF–513K
13.
Structural and Dynamical Characterization of DNA and RNA Quadruplexes Obtained from the GGGGCC and GGGCCT Hexanucleotide Repeats Associated with C9FTD/ALS and SCA36 Diseases
Yuan Zhang, Christopher Roland, Celeste Sagui
ACS Chem Neurosci. Author manuscript; available in PMC 2019 Apr 1.
Published in final edited form as: ACS Chem Neurosci. 2018 May 16; 9(5): 1104–1117. Published online 2018 Jan 12. doi: 10.1021/acschemneuro.7b00476
PMCID:
PMC6442734
ArticlePDF–3.0M
14.
Noncoding repeat expansions for ALS in Japan are associated with the ATXN8OS gene
Makito Hirano, Makoto Samukawa, Chiharu Isono, Kazumasa Saigoh, Yusaku Nakamura, Susumu Kusunoki
Neurol Genet. 2018 Aug; 4(4): e252. Published online 2018 Aug 1. doi: 10.1212/NXG.0000000000000252
PMCID:
PMC6089696
ArticlePDF–326K
15.
Frequency of SCA8, SCA10, SCA12, SCA36, FXTAS and C9orf72 repeat expansions in SCA patients negative for the most common SCA subtypes
Gülsah Aydin, Gabriele Dekomien, Sabine Hoffjan, Wanda Maria Gerding, Jörg T. Epplen, Larissa Arning
BMC Neurol. 2018; 18: 3. Published online 2018 Jan 9. doi: 10.1186/s12883-017-1009-9
PMCID:
PMC5761156
ArticlePDF–496K
16.
An ontology-aware integration of clinical models, terminologies and guidelines: an exploratory study of the Scale for the Assessment and Rating of Ataxia (SARA)
Haitham Maarouf, María Taboada, Hadriana Rodriguez, Manuel Arias, Ángel Sesar, María Jesús Sobrido
BMC Med Inform Decis Mak. 2017; 17: 159. Published online 2017 Dec 6. doi: 10.1186/s12911-017-0568-4
PMCID:
PMC5718136
ArticlePDF–3.7M
17.
Prevalence of spinocerebellar ataxia 36 in a US population
Juliana M. Valera, Tatyana Diaz, Lauren E. Petty, Beatriz Quintáns, Zuleima Yáñez, Eric Boerwinkle, Donna Muzny, Dmitry Akhmedov, Rebecca Berdeaux, Maria J. Sobrido, Richard Gibbs, James R. Lupski, Daniel H. Geschwind, Susan Perlman, Jennifer E. Below, Brent L. Fogel
Neurol Genet. 2017 Aug; 3(4): e174. Published online 2017 Jul 18. doi: 10.1212/NXG.0000000000000174
PMCID:
PMC5515602
ArticlePDF–215K
18.
Antisense Oligonucleotides Reduce RNA Foci in Spinocerebellar Ataxia 36 Patient iPSCs
Kosuke Matsuzono, Keiko Imamura, Nagahisa Murakami, Kayoko Tsukita, Takuya Yamamoto, Yuishin Izumi, Ryuji Kaji, Yasuyuki Ohta, Toru Yamashita, Koji Abe, Haruhisa Inoue
Mol Ther Nucleic Acids. 2017 Sep 15; 8: 211–219. Published online 2017 Jun 23. doi: 10.1016/j.omtn.2017.06.017
PMCID:
PMC5504081
ArticlePDF–3.2M
19.
Spinocerebellar ataxia type 36 in the Han Chinese
Yi-Chung Lee, Pei-Chien Tsai, Yuh-Cherng Guo, Cheng-Tsung Hsiao, Guan-Ting Liu, Yi-Chu Liao, Bing-Wen Soong
Neurol Genet. 2016 Jun; 2(3): e68. Published online 2016 Apr 12. doi: 10.1212/NXG.0000000000000068
PMCID:
PMC4830187
ArticlePDF–608K
20.
‘Costa da Morte’ ataxia is spinocerebellar ataxia 36: clinical and genetic characterization
María García-Murias, Beatriz Quintáns, Manuel Arias, Ana I. Seixas, Pilar Cacheiro, Rosa Tarrío, Julio Pardo, María J. Millán, Susana Arias-Rivas, Patricia Blanco-Arias, Dolores Dapena, Ramón Moreira, Francisco Rodríguez-Trelles, Jorge Sequeiros, Ángel Carracedo, Isabel Silveira, María J. Sobrido
Brain. 2012 May; 135(5): 1423–1435. Published online 2012 Apr 3. doi: 10.1093/brain/aws069
PMCID:
PMC3338928
ArticlePDF–637K

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