PubMed for id: 162903

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5,644 results

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Page 1

Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients.

Rendtorff ND, Karstensen HG, Lodahl M, Tolmie J, McWilliam C, Bak M, Tommerup N, Nazaryan-Petersen L, Kunst H, Wong M, Joss S, Carelli V, Tranebjærg L. Rendtorff ND, et al. Sci Rep. 2022 Sep 2;12(1):14959. doi: 10.1038/s41598-022-18040-y. Sci Rep. 2022. PMID: 36056138 Free PMC article.

Correction: Function of hTim8a in complex IV assembly in neuronal cells provides insight into pathomechanism underlying Mohr-Tranebjærg syndrome.

Kang Y, Anderson AJ, Jackson TD, Palmer CS, De Souza DP, Fujihara KM, Stait T, Frazier AE, Clemons NJ, Tull D, Thorburn DR, McConville MJ, Ryan MT, Stroud DA, Stojanovski D. Kang Y, et al. Elife. 2020 Mar 18;9:e56968. doi: 10.7554/eLife.56968. Elife. 2020. PMID: 32186514 Free PMC article.

Function of hTim8a in complex IV assembly in neuronal cells provides insight into pathomechanism underlying Mohr-Tranebjærg syndrome.

Kang Y, Anderson AJ, Jackson TD, Palmer CS, De Souza DP, Fujihara KM, Stait T, Frazier AE, Clemons NJ, Tull D, Thorburn DR, McConville MJ, Ryan MT, Stroud DA, Stojanovski D. Kang Y, et al. Elife. 2019 Nov 4;8:e48828. doi: 10.7554/eLife.48828. Elife. 2019. PMID: 31682224 Free PMC article.

[One case report of Mohr-Tranebjærg syndrome].

Huang YY, Yang J. Huang YY, et al. Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2019 Sep;33(9):848-849. doi: 10.13201/j.issn.1001-1781.2019.09.012. Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2019. PMID: 31446702 Chinese.

Phenotype prediction of Mohr-Tranebjaerg syndrome (MTS) by genetic analysis and initial auditory neuropathy.

Wang H, Wang L, Yang J, Yin L, Lan L, Li J, Zhang Q, Wang D, Guan J, Wang Q. Wang H, et al. BMC Med Genet. 2019 Jan 11;20(1):11. doi: 10.1186/s12881-018-0741-3. BMC Med Genet. 2019. PMID: 30634948 Free PMC article.

Bilateral Globus Pallidus Internus Deep Brain Stimulation in a Case of Progressive Dystonia in Mohr-Tranebjaerg Syndrome with Bilateral Cochlear Implants.

Coenen VA, Rijntjes M, Sajonz B, Piroth T, Prokop T, Jost W, Trippel M, Urbach H, Reinacher PC. Coenen VA, et al. J Neurol Surg A Cent Eur Neurosurg. 2019 Jan;80(1):44-48. doi: 10.1055/s-0038-1669472. Epub 2018 Oct 5. J Neurol Surg A Cent Eur Neurosurg. 2019. PMID: 30290379

The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome.

Ha AD, Parratt KL, Rendtorff ND, Lodahl M, Ng K, Rowe DB, Sue CM, Hayes MW, Tranebjaerg L, Fung VS. Ha AD, et al. Mov Disord. 2012 Jul;27(8):1034-40. doi: 10.1002/mds.25033. Epub 2012 Jun 26. Mov Disord. 2012. PMID: 22736418

A Spanish sporadic case of deafness-dystonia (Mohr-Tranebjaerg) syndrome with a novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes.

Aguirre LA, Pérez-Bas M, Villamar M, López-Ariztegui MA, Moreno-Pelayo MA, Moreno F, del Castillo I. Aguirre LA, et al. Neuromuscul Disord. 2008 Dec;18(12):979-81. doi: 10.1016/j.nmd.2008.09.009. Epub 2008 Oct 25. Neuromuscul Disord. 2008. PMID: 18952432

Molecular genetics of a patient with Mohr-Tranebjaerg Syndrome due to a new mutation in the DDP1 gene.

Blesa JR, Solano A, Briones P, Prieto-Ruiz JA, Hernández-Yago J, Coria F. Blesa JR, et al. Neuromolecular Med. 2007;9(4):285-91. doi: 10.1007/s12017-007-8000-3. Epub 2007 Aug 3. Neuromolecular Med. 2007. PMID: 17999202

Blepharospasm and limb dystonia caused by Mohr-Tranebjaerg syndrome with a novel splice-site mutation in the deafness/dystonia peptide gene.

Kim HT, Edwards MJ, Tyson J, Quinn NP, Bitner-Glindzicz M, Bhatia KP. Kim HT, et al. Mov Disord. 2007 Jul 15;22(9):1328-31. doi: 10.1002/mds.21351. Mov Disord. 2007. PMID: 17534980

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