| 1 | DDOA, TIMM8A
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| The syndrome of deafness-dystonia: clinical and genetic heterogeneity.
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| Kojovic M, Pareés I, Lampreia T, Pienczk-Reclawowicz K, Xiromerisiou G, Rubio-Agusti I, Kramberger M, Carecchio M, Alazami AM, Brancati F, Slawek J, Pirtosek Z, Valente EM, Alkuraya FS, Edwards MJ, Bhatia KP.
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| Mov Disord 28(6):795-803. doi: 10.1002/mds.25394. Epub 2013 Feb 15.
2013
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| 2 | DDOA, TIMM8A
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| Alterations in expression levels of deafness dystonia protein 1 affect mitochondrial morphology.
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| Engl G, Florian S, Tranebjærg L, Rapaport D.
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| Hum Mol Genet 21(2):287-99. doi: 10.1093/hmg/ddr458. Epub 2011 Oct 7.
2012
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| 3 | DDOA, TIMM8A
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| The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome.
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| Ha AD, Parratt KL, Rendtorff ND, Lodahl M, Ng K, Rowe DB, Sue CM, Hayes MW, Tranebjaerg L, Fung VS.
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| Mov Disord 27(8):1034-40. doi: 10.1002/mds.25033. Epub 2012 Jun 26.
2012
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| 4 | DDOA, TIMM8A
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| 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.
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| Aguirre LA, Pérez-Bas M, Villamar M, López-Ariztegui MA, Moreno-Pelayo MA, Moreno F, del Castillo I.
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| Neuromuscul Disord 18(12):979-81. doi: 10.1016/j.nmd.2008.09.009. Epub 2008 Oct 25.
2008
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| 5 | DDOA, TIMM8A
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| Blepharospasm and limb dystonia caused by Mohr-Tranebjaerg syndrome with a novel splice-site mutation in the deafness/dystonia peptide gene.
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| Kim HT, Edwards MJ, Tyson J, Quinn NP, Bitner-Glindzicz M, Bhatia KP.
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| Mov Disord 22(9):1328-31.
2007
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| 6 | TIMM8A, DDOA
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| A novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes, in a Spanish familial case of deafness-dystonia (Mohr-Tranebjaerg) syndrome.
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| Aguirre LA, del Castillo I, Macaya A, Meda C, Villamar M, Moreno-Pelayo MA, Moreno F.
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| Am J Med Genet A 140(4):392-7. No abstract available. 2006
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| 7 | TIMM8A, DDOA
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| A novel intronic mutation in the DDP1 gene in a family with X-linked dystonia-deafness syndrome.
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| Ezquerra M, Campdelacreu J, Munoz E, Tolosa E, Marti MJ.
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| Arch Neurol 62(2):306-8. 2005
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| 8 | DDOA, TIMM8A
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| A family with X-linked dystonia-deafness syndrome with a novel mutation of the DDP gene.
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| Ujike H, Tanabe Y, Takehisa Y, Hayabara T, Kuroda S.
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| Arch Neurol 58(6):1004-7. Review. 2001
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