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Journal Abstract Search

179 related items for PubMed ID: 22736418

  • 1. 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.
    Mov Disord; 2012 Jul; 27(8):1034-40. PubMed ID: 22736418
    [Abstract] [Full Text] [Related]

  • 2. 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; 28(6):795-803. PubMed ID: 23418071
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. Progressive dystonia in Mohr-Tranebjaerg syndrome with cochlear implant and deep brain stimulation.
    Cif L, Gonzalez V, Garcia-Ptacek S, James S, Boetto J, Seychelles A, Roujeau T, Moura De Ribeiro AM, Sillon M, Mondain M, Coubes P.
    Mov Disord; 2013 Jun 11; 28(6):737-8. PubMed ID: 23801560
    [No Abstract] [Full Text] [Related]

  • 5. 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 11; 126(Pt 8):1814-20. PubMed ID: 12805099
    [Abstract] [Full Text] [Related]

  • 6. 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 11; 18(12):979-81. PubMed ID: 18952432
    [Abstract] [Full Text] [Related]

  • 7. 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 11; 8(3):e1121. PubMed ID: 31903733
    [Abstract] [Full Text] [Related]

  • 8. Genetic analysis of contiguous X-chromosome deletion syndrome encompassing the BTK and TIMM8A genes.
    Arai T, Zhao M, Kanegane H, van Zelm MC, Futatani T, Yamada M, Ariga T, Ochs HD, Miyawaki T, Oh-ishi T.
    J Hum Genet; 2011 Aug 11; 56(8):577-82. PubMed ID: 21753765
    [Abstract] [Full Text] [Related]

  • 9. A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy.
    Zazo Seco C, Castells-Nobau A, Joo SH, Schraders M, Foo JN, van der Voet M, Velan SS, Nijhof B, Oostrik J, de Vrieze E, Katana R, Mansoor A, Huynen M, Szklarczyk R, Oti M, Tranebjærg L, van Wijk E, Scheffer-de Gooyert JM, Siddique S, Baets J, de Jonghe P, Kazmi SA, Sadananthan SA, van de Warrenburg BP, Khor CC, Göpfert MC, Qamar R, Schenck A, Kremer H, Siddiqi S.
    Dis Model Mech; 2017 Feb 01; 10(2):105-118. PubMed ID: 28067622
    [Abstract] [Full Text] [Related]

  • 10. Long-Term Follow-Up with Video of a Patient with Deafness-Dystonia Syndrome Treated with DBS-GPi.
    Dulski J, Schinwelski M, Mandat T, Pienczk-Ręcławowicz K, Sławek J.
    Stereotact Funct Neurosurg; 2016 Feb 01; 94(2):123-5. PubMed ID: 27100856
    [Abstract] [Full Text] [Related]

  • 11. [Mohr-Tranebjaerg syndrome].
    Ohkoshi N.
    Ryoikibetsu Shokogun Shirizu; 2001 Feb 01; (36):213-6. PubMed ID: 11596373
    [No Abstract] [Full Text] [Related]

  • 12. 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]

  • 13. Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.
    Maas RR, Iwanicka-Pronicka K, Kalkan Ucar S, Alhaddad B, AlSayed M, Al-Owain MA, Al-Zaidan HI, Balasubramaniam S, Barić I, Bubshait DK, Burlina A, Christodoulou J, Chung WK, Colombo R, Darin N, Freisinger P, Garcia Silva MT, Grunewald S, Haack TB, van Hasselt PM, Hikmat O, Hörster F, Isohanni P, Ramzan K, Kovacs-Nagy R, Krumina Z, Martin-Hernandez E, Mayr JA, McClean P, De Meirleir L, Naess K, Ngu LH, Pajdowska M, Rahman S, Riordan G, Riley L, Roeben B, Rutsch F, Santer R, Schiff M, Seders M, Sequeira S, Sperl W, Staufner C, Synofzik M, Taylor RW, Trubicka J, Tsiakas K, Unal O, Wassmer E, Wedatilake Y, Wolff T, Prokisch H, Morava E, Pronicka E, Wevers RA, de Brouwer AP, Wortmann SB.
    Ann Neurol; 2017 Dec 15; 82(6):1004-1015. PubMed ID: 29205472
    [Abstract] [Full Text] [Related]

  • 14. 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.
    Sci Rep; 2022 Sep 02; 12(1):14959. PubMed ID: 36056138
    [Abstract] [Full Text] [Related]

  • 15. 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 02; 14(2):177-80. PubMed ID: 8841189
    [Abstract] [Full Text] [Related]

  • 16. 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 02; 22(4):207-23. PubMed ID: 11803487
    [Abstract] [Full Text] [Related]

  • 17. 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.
    Elife; 2019 Nov 04; 8():. PubMed ID: 31682224
    [Abstract] [Full Text] [Related]

  • 18.
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  • 19. 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 04; 8(6):464-7. PubMed ID: 10878669
    [Abstract] [Full Text] [Related]

  • 20. Dystonia-deafness syndrome caused by a β-actin gene mutation and response to deep brain stimulation.
    Eggink H, van Egmond ME, Verschuuren-Bemelmans CC, Schönherr MC, de Koning TJ, Oterdoom DL, van Dijk JM, Tijssen MA.
    Mov Disord; 2017 Jan 04; 32(1):162-165. PubMed ID: 27862284
    [Abstract] [Full Text] [Related]

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