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Journal Abstract Search

173 related items for PubMed ID: 18952432

  • 1. 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.
    Neuromuscul Disord; 2008 Dec; 18(12):979-81. PubMed ID: 18952432
    [Abstract] [Full Text] [Related]

  • 2. 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.
    Mov Disord; 2007 Jul 15; 22(9):1328-31. PubMed ID: 17534980
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  • 3. Clinical and molecular findings in a patient with a novel mutation in the deafness-dystonia peptide (DDP1) gene.
    Binder J, Hofmann S, Kreisel S, Wöhrle JC, Bäzner H, Krauss JK, Hennerici MG, Bauer MF.
    Brain; 2003 Aug 15; 126(Pt 8):1814-20. PubMed ID: 12805099
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  • 4. A novel intronic mutation in the DDP1 gene in a family with X-linked dystonia-deafness syndrome.
    Ezquerra M, Campdelacreu J, Muñoz E, Tolosa E, Martí MJ.
    Arch Neurol; 2005 Feb 15; 62(2):306-8. PubMed ID: 15710860
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  • 7. The calcium-binding aspartate/glutamate carriers, citrin and aralar1, are new substrates for the DDP1/TIMM8a-TIMM13 complex.
    Roesch K, Hynds PJ, Varga R, Tranebjaerg L, Koehler CM.
    Hum Mol Genet; 2004 Sep 15; 13(18):2101-11. PubMed ID: 15254020
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  • 8. 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.
    Neuromolecular Med; 2007 Sep 15; 9(4):285-91. PubMed ID: 17999202
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  • 9. Dystonia with and without deafness is caused by TIMM8A mutation.
    Swerdlow RH, Juel VC, Wooten GF.
    Adv Neurol; 2004 Sep 15; 94():147-54. PubMed ID: 14509668
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  • 10. Dystonia in the Mohr-Tranebjaerg syndrome responds to GABAergic substances.
    Kreisel SH, Binder J, Wöhrle JC, Krauss JK, Hofmann S, Bauer MF, Hennerici MG, Bäzner H.
    Mov Disord; 2004 Oct 15; 19(10):1241-3. PubMed ID: 15390009
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  • 11. 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.
    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.
    Ophthalmic Genet; 2001 Dec 15; 22(4):207-23. PubMed ID: 11803487
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  • 12. 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.
    BMC Med Genet; 2019 Jan 11; 20(1):11. PubMed ID: 30634948
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  • 16. A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness-dystonia-optic atrophy syndrome.
    Tranebjaerg L, Hamel BC, Gabreels FJ, Renier WO, Van Ghelue M.
    Eur J Hum Genet; 2000 Jun 11; 8(6):464-7. PubMed ID: 10878669
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  • 17. [Mohr-Tranebjaerg syndrome].
    Ohkoshi N.
    Ryoikibetsu Shokogun Shirizu; 2001 Jun 11; (36):213-6. PubMed ID: 11596373
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  • 18. A novel deafness/dystonia peptide gene mutation that causes dystonia in female carriers of Mohr-Tranebjaerg syndrome.
    Swerdlow RH, Wooten GF.
    Ann Neurol; 2001 Oct 11; 50(4):537-40. PubMed ID: 11601506
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  • 20. X-linked Dystonia-Deafness syndrome.
    Hayes MW, Ouvrier RA, Evans W, Somerville E, Morris JG.
    Mov Disord; 1998 Mar 11; 13(2):303-8. PubMed ID: 9539345
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