| 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, Tranebjćrg 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 | TIMM10, TIMM13, TIMM22, TIMM23, TIMM8A, TIMM9
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| Substrate specificity of the TIM22 mitochondrial import pathway revealed with small molecule inhibitor of protein translocation.
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| Hasson SA, Damoiseaux R, Glavin JD, Dabir DV, Walker SS, Koehler CM.
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| Proc Natl Acad Sci U S A 107(21):9578-83. Epub 2010 May 10. 2010
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| 5 | 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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| 6 | 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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| 7 | DRP2, TAF7L, TIMM8A
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| Contiguous X-chromosome deletion syndrome encompassing the BTK, TIMM8A, TAF7L, and DRP2 genes.
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| Sedivá A, Smith CI, Asplund AC, Hadac J, Janda A, Zeman J, Hansíková H, Dvoráková L, Mrázová L, Velbri S, Koehler C, Roesch K, Sullivan KE, Futatani T, Ochs HD.
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| J Clin Immunol 27(6):640-6. Epub 2007 Sep 12.
2007
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| 8 | 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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| 9 | 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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| 10 | TIMM8A, TIMM13, SLC25A12, SLC25A13
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| The calcium-binding aspartate/glutamate carriers, citrin and aralar1, are new substrates for the DDP1/TIMM8a-TIMM13 complex.
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| Roesch K, Hynds PJ, Varga R, Tranebjaerg L, Koehler CM.
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| Hum Mol Genet 13(18):2101-11. Epub 2004 Jul 14. 2004
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| 11 | TIMM8A, STAM
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| Interaction of the deafness-dystonia protein DDP/TIMM8a with the signal transduction adaptor molecule STAM1.
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| Blackstone C, Roberts RG, Seeburg DP, Sheng M.
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| Biochem Biophys Res Commun 305(2):345-52. 2003
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| 12 | ADS, JS, MTS, TIMM8A
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| Neuronal cell death in the visual cortex is a prominent feature of the X-linked recessive mitochondrial deafness-dystonia syndrome caused by mutations in the TIMM8a gene.
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| Tranebjaerg L, Jensen PK, Van Ghelue M, Vnencak-Jones CL, Sund S, Elgjo K, Jakobsen J, Lindal S, Warburg M, Fuglsang-Frederiksen A, Skullerud K.
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| Ophthalmic Genet 22(4):207-23. 2001
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| 13 | 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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| 14 | RENS1, TIMM8A
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| A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness-dystonia-optic atrophy syndrome.
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| Tranebjaerg L, Hamel BC, Gabreels FJ, Renier WO, Van Ghelue M.
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| Eur J Hum Genet 8(6):464-7. 2000
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| 15 | TIMM8A, RENS1
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| Evidence that mutations in the X-linked DDP gene cause incompletely penetrant and variable skewed X inactivation.
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| Plenge RM, et al.
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| Am J Hum Genet 64(3):759-67. 1999
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| 16 | FXC1, TIMM10, TIMM13, TIMM8A, TIMM8B, TIMM9
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| The human family of Deafness/Dystonia peptide (DDP) related mitochondrial import proteins.
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| Jin H, Kendall E, Freeman TC, Roberts RG, Vetrie DL.
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| Genomics 61(3):259-67 1999
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| 17 | RENS1, TIMM8A
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| Human deafness dystonia syndrome is a mitochondrial disease.
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| Koehler CM, Leuenberger D, Merchant S, Renold A, Junne T, Schatz G.
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| Proc Natl Acad Sci U S A 96(5):2141-6. 1999
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| 18 | ADS, TIMM8A, JS, RENS1
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| JENSEN syndrome is allelic to MOHR-TRANEBJAERG syndrome and both are caused by stop mutations in the DDP gene. (abstr)
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| Tranebjaerg L, et al.
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| Am J Hum Genet 61 : A349. 1997
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| 19 | TIMM8A, TIMM8AP, RENS1
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| A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness.
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| Jin H, et al.
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| Nat Genet 14 : 177-180. 1996
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| 20 | RENS1, TIMM8A
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| A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22.
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| Tranebjaerg L, et al.
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| J Med Genet 32 : 257-263. 1995
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