PubMed for id: 907580

Year	Number of Results
1993	1
1996	1
2000	1
2004	2
2005	1
2006	1
2007	2
2008	1
2013	1
2014	1
2015	4
2016	4
2017	2
2018	5
2019	1
2020	3
2021	3
2022	3
2024	0

1

Microstructural white matter abnormalities in patients with COL6A3 mutations (DYT27 dystonia).

Jochim A, Li Y, Zech M, Lam D, Gross N, Koch K, Zimmer C, Winkelmann J, Haslinger B. Jochim A, et al. Parkinsonism Relat Disord. 2018 Jan;46:74-78. doi: 10.1016/j.parkreldis.2017.10.008. Epub 2017 Oct 14. Parkinsonism Relat Disord. 2018. PMID: 29066004

2

The clinical phenotype of early-onset isolated dystonia caused by recessive COL6A3 mutations (DYT27).

Jochim A, Zech M, Gora-Stahlberg G, Winkelmann J, Haslinger B. Jochim A, et al. Mov Disord. 2016 May;31(5):747-50. doi: 10.1002/mds.26501. Epub 2015 Dec 21. Mov Disord. 2016. PMID: 26687111

3

COL6A3 mutation associated early-onset isolated dystonia (DYT)-27: Report of a new case and review of published literature.

Panda PK, Sharawat IK. Panda PK, et al. Brain Dev. 2020 Apr;42(4):329-335. doi: 10.1016/j.braindev.2020.01.004. Epub 2020 Feb 6. Brain Dev. 2020. PMID: 32037012 Review.

4

Neurological phenomenology of the IRF2BPL mutation syndrome: Analysis of a new case and systematic review of the literature.

Pisano S, Melis M, Figorilli M, Polizzi L, Rocchi L, Giglio S, Defazio G, Muroni A. Pisano S, et al. Seizure. 2022 Jul;99:12-15. doi: 10.1016/j.seizure.2022.04.010. Epub 2022 Apr 18. Seizure. 2022. PMID: 35525099 Free article. Review.

5

Movement disorders in MCT8 deficiency/Allan-Herndon-Dudley Syndrome.

Masnada S, Sarret C, Antonello CE, Fadilah A, Krude H, Mura E, Mordekar S, Nicita F, Olivotto S, Orcesi S, Porta F, Remerand G, Siri B, Wilpert NM, Amir-Yazdani P, Bertini E, Schuelke M, Bernard G, Boespflug-Tanguy O, Tonduti D. Masnada S, et al. Mol Genet Metab. 2022 Jan;135(1):109-113. doi: 10.1016/j.ymgme.2021.12.003. Epub 2021 Dec 16. Mol Genet Metab. 2022. PMID: 34969638

6

Collagen VI Regulates Motor Circuit Plasticity and Motor Performance by Cannabinoid Modulation.

Lam DD, Williams RH, Lujan E, Tanabe K, Huber G, Saw NL, Merl-Pham J, Salminen AV, Lohse D, Spendiff S, Plastini MJ, Zech M, Lochmüller H, Geerlof A, Hauck SM, Shamloo M, Wernig M, Winkelmann J. Lam DD, et al. J Neurosci. 2022 Feb 23;42(8):1557-1573. doi: 10.1523/JNEUROSCI.0962-21.2021. Epub 2021 Dec 27. J Neurosci. 2022. PMID: 34965974 Free PMC article.

7

Long term follow-up results of deep brain stimulation of the Globus pallidus interna in pediatric patients with DYT1-positive dystonia.

Ramezani Ghamsari M, Ghourchian S, Emamikhah M, Safdarian M, Shahidi G, Parvaresh M, Moghaddasi M, Habibi SAH, Munhoz RP, Rohani M. Ramezani Ghamsari M, et al. Clin Neurol Neurosurg. 2021 Feb;201:106449. doi: 10.1016/j.clineuro.2020.106449. Epub 2020 Dec 28. Clin Neurol Neurosurg. 2021. PMID: 33395620

8

The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families.

Lieto M, Riso V, Galatolo D, De Michele G, Rossi S, Barghigiani M, Cocozza S, Pontillo G, Trovato R, Saccà F, Salvatore E, Tessa A, Filla A, Santorelli FM, De Michele G, Silvestri G. Lieto M, et al. Eur J Neurol. 2020 Mar;27(3):498-505. doi: 10.1111/ene.14094. Epub 2019 Nov 1. Eur J Neurol. 2020. PMID: 31571321

9

Dystonin-A3 upregulation is responsible for maintenance of tubulin acetylation in a less severe dystonia musculorum mouse model for hereditary sensory and autonomic neuropathy type VI.

Lynch-Godrei A, De Repentigny Y, Gagnon S, Trung MT, Kothary R. Lynch-Godrei A, et al. Hum Mol Genet. 2018 Oct 15;27(20):3598-3611. doi: 10.1093/hmg/ddy250. Hum Mol Genet. 2018. PMID: 29982604

10

Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy.

Low KJ, Stals K, Caswell R, Wakeling M, Clayton-Smith J, Donaldson A, Foulds N, Norman A, Splitt M, Urankar K, Vijayakumar K, Majumdar A, Study D, Ellard S, Smithson SF. Low KJ, et al. Eur J Hum Genet. 2018 Jun;26(6):796-807. doi: 10.1038/s41431-018-0110-x. Epub 2018 Mar 6. Eur J Hum Genet. 2018. PMID: 29511323 Free PMC article.

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