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Journal Abstract Search

145 related items for PubMed ID: 11601506

  • 1.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 2. A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness.
    Jin H, May M, Tranebjaerg L, Kendall E, Fontán G, Jackson J, Subramony SH, Arena F, Lubs H, Smith S, Stevenson R, Schwartz C, Vetrie D.
    Nat Genet; 1996 Oct; 14(2):177-80. PubMed ID: 8841189
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. 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; 22(4):207-23. PubMed ID: 11803487
    [Abstract] [Full Text] [Related]

  • 5. A family with X-linked dystonia-deafness syndrome with a novel mutation of the DDP gene.
    Ujike H, Tanabe Y, Takehisa Y, Hayabara T, Kuroda S.
    Arch Neurol; 2001 Jun; 58(6):1004-7. PubMed ID: 11405816
    [Abstract] [Full Text] [Related]

  • 6. 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.
    Aguirre LA, del Castillo I, Macaya A, Medá C, Villamar M, Moreno-Pelayo MA, Moreno F.
    Am J Med Genet A; 2006 Feb 15; 140(4):392-7. PubMed ID: 16411215
    [No Abstract] [Full Text] [Related]

  • 7. A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22.
    Tranebjaerg L, Schwartz C, Eriksen H, Andreasson S, Ponjavic V, Dahl A, Stevenson RE, May M, Arena F, Barker D.
    J Med Genet; 1995 Apr 15; 32(4):257-63. PubMed ID: 7643352
    [Abstract] [Full Text] [Related]

  • 8. [Mohr-Tranebjaerg syndrome].
    Yamamoto K, Ikeda S.
    Nihon Rinsho; 2002 Apr 15; 60 Suppl 4():385-8. PubMed ID: 12013893
    [No Abstract] [Full Text] [Related]

  • 9. [Mohr-Tranebjaerg syndrome].
    Ohkoshi N.
    Ryoikibetsu Shokogun Shirizu; 2001 Apr 15; (36):213-6. PubMed ID: 11596373
    [No Abstract] [Full Text] [Related]

  • 10. 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
    [Abstract] [Full Text] [Related]

  • 11. 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
    [Abstract] [Full Text] [Related]

  • 12. The syndrome of deafness-dystonia: clinical and genetic heterogeneity.
    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.
    Mov Disord; 2013 Jun 15; 28(6):795-803. PubMed ID: 23418071
    [Abstract] [Full Text] [Related]

  • 13. 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
    [Abstract] [Full Text] [Related]

  • 14.
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  • 15. 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 15; 8(6):464-7. PubMed ID: 10878669
    [Abstract] [Full Text] [Related]

  • 16. 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
    [Abstract] [Full Text] [Related]

  • 17. 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 Jan 11; 9(4):285-91. PubMed ID: 17999202
    [Abstract] [Full Text] [Related]

  • 18. Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/TIMM8a-TIMM13 complex.
    Roesch K, Curran SP, Tranebjaerg L, Koehler CM.
    Hum Mol Genet; 2002 Mar 01; 11(5):477-86. PubMed ID: 11875042
    [Abstract] [Full Text] [Related]

  • 19. X-linked Dystonia-Deafness syndrome.
    Hayes MW, Ouvrier RA, Evans W, Somerville E, Morris JG.
    Mov Disord; 1998 Mar 01; 13(2):303-8. PubMed ID: 9539345
    [Abstract] [Full Text] [Related]

  • 20. Functional analysis of a novel mutation in the TIMM8A gene that causes deafness-dystonia-optic neuronopathy syndrome.
    Neighbors A, Moss T, Holloway L, Yu SH, Annese F, Skinner S, Saneto R, Steet R.
    Mol Genet Genomic Med; 2020 Mar 01; 8(3):e1121. PubMed ID: 31903733
    [Abstract] [Full Text] [Related]

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