PubMed (Bookshelf cited) for id: 855217

Year	Number of Results
1997	1
2006	1
2008	1
2010	1
2012	1
2013	3
2014	1
2015	1
2016	1
2017	1
2018	1
2019	1
2023	0

1

Mutational mechanism for DAB1 (ATTTC)_n insertion in SCA37: ATTTT repeat lengthening and nucleotide substitution.

Loureiro JR, Oliveira CL, Mota C, Castro AF, Costa C, Loureiro JL, Coutinho P, Martins S, Sequeiros J, Silveira I. Loureiro JR, et al. Hum Mutat. 2019 Apr;40(4):404-412. doi: 10.1002/humu.23704. Epub 2019 Jan 9. Hum Mutat. 2019. PMID: 30588707

2

Clinical, genetic and neuropathological characterization of spinocerebellar ataxia type 37.

Corral-Juan M, Serrano-Munuera C, Rábano A, Cota-González D, Segarra-Roca A, Ispierto L, Cano-Orgaz AT, Adarmes AD, Méndez-Del-Barrio C, Jesús S, Mir P, Volpini V, Alvarez-Ramo R, Sánchez I, Matilla-Dueñas A. Corral-Juan M, et al. Brain. 2018 Jul 1;141(7):1981-1997. doi: 10.1093/brain/awy137. Brain. 2018. PMID: 29939198

3

A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia.

Seixas AI, Loureiro JR, Costa C, Ordóñez-Ugalde A, Marcelino H, Oliveira CL, Loureiro JL, Dhingra A, Brandão E, Cruz VT, Timóteo A, Quintáns B, Rouleau GA, Rizzu P, Carracedo Á, Bessa J, Heutink P, Sequeiros J, Sobrido MJ, Coutinho P, Silveira I. Seixas AI, et al. Am J Hum Genet. 2017 Jul 6;101(1):87-103. doi: 10.1016/j.ajhg.2017.06.007. Am J Hum Genet. 2017. PMID: 28686858 Free PMC article.

4

Ataxin-1 regulates the cerebellar bioenergetics proteome through the GSK3β-mTOR pathway which is altered in Spinocerebellar ataxia type 1 (SCA1).

Sánchez I, Balagué E, Matilla-Dueñas A. Sánchez I, et al. Hum Mol Genet. 2016 Sep 15;25(18):4021-4040. doi: 10.1093/hmg/ddw242. Epub 2016 Jul 27. Hum Mol Genet. 2016. PMID: 27466200

5

Interstitial 1p32.1p32.3 deletion in a patient with multiple congenital anomalies.

Kehrer M, Schäferhoff K, Bonin M, Jauch A, Bevot A, Tzschach A. Kehrer M, et al. Am J Med Genet A. 2015 Oct;167A(10):2406-10. doi: 10.1002/ajmg.a.37178. Epub 2015 Jun 10. Am J Med Genet A. 2015. PMID: 26061568

6

Age-dependent decrease in chaperone activity impairs MANF expression, leading to Purkinje cell degeneration in inducible SCA17 mice.

Yang S, Huang S, Gaertig MA, Li XJ, Li S. Yang S, et al. Neuron. 2014 Jan 22;81(2):349-65. doi: 10.1016/j.neuron.2013.12.002. Neuron. 2014. PMID: 24462098 Free PMC article.

7

New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32.

Serrano-Munuera C, Corral-Juan M, Stevanin G, San Nicolás H, Roig C, Corral J, Campos B, de Jorge L, Morcillo-Suárez C, Navarro A, Forlani S, Durr A, Kulisevsky J, Brice A, Sánchez I, Volpini V, Matilla-Dueñas A. Serrano-Munuera C, et al. JAMA Neurol. 2013 Jun;70(6):764-71. doi: 10.1001/jamaneurol.2013.2311. JAMA Neurol. 2013. PMID: 23700170

8

Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study.

Coutinho P, Ruano L, Loureiro JL, Cruz VT, Barros J, Tuna A, Barbot C, Guimarães J, Alonso I, Silveira I, Sequeiros J, Marques Neves J, Serrano P, Silva MC. Coutinho P, et al. JAMA Neurol. 2013 Jun;70(6):746-55. doi: 10.1001/jamaneurol.2013.1707. JAMA Neurol. 2013. PMID: 23609960

9

Association study between genes in Reelin signaling pathway and autism identifies DAB1 as a susceptibility gene in a Chinese Han population.

Li J, Liu J, Zhao L, Ma Y, Jia M, Lu T, Ruan Y, Li Q, Yue W, Zhang D, Wang L. Li J, et al. Prog Neuropsychopharmacol Biol Psychiatry. 2013 Jul 1;44:226-32. doi: 10.1016/j.pnpbp.2013.01.004. Epub 2013 Jan 17. Prog Neuropsychopharmacol Biol Psychiatry. 2013. PMID: 23333377

10

Ataxia rating scales--psychometric profiles, natural history and their application in clinical trials.

Saute JA, Donis KC, Serrano-Munuera C, Genis D, Ramirez LT, Mazzetti P, Pérez LV, Latorre P, Sequeiros J, Matilla-Dueñas A, Jardim LB; Iberoamerican Multidisciplinary Network for the Study of Movement Disorders (RIBERMOV) Study Group. Saute JA, et al. Cerebellum. 2012 Jun;11(2):488-504. doi: 10.1007/s12311-011-0316-8. Cerebellum. 2012. PMID: 21964941 Review.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

14 results

Results by year