BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

222 related articles for article (PubMed ID: 23418071)

  • 1. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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
    [TBL] [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; 20(1):11. PubMed ID: 30634948
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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; 8(3):e1121. PubMed ID: 31903733
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 6. First replication that biallelic variants in FITM2 cause a complex deafness-dystonia syndrome.
    Riedhammer KM; Leszinski GS; Andres S; Strobl-Wildemann G; Wagner M
    Mov Disord; 2018 Oct; 33(10):1665-1666. PubMed ID: 30288795
    [No Abstract]   [Full Text] [Related]  

  • 7. 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; 32(1):162-165. PubMed ID: 27862284
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 28(6):737-8. PubMed ID: 23801560
    [No Abstract]   [Full Text] [Related]  

  • 9. 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; 82(6):1004-1015. PubMed ID: 29205472
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; 56(8):577-82. PubMed ID: 21753765
    [TBL] [Abstract][Full Text] [Related]  

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

  • 12. Dystonia-deafness syndrome caused by ACTB p.Arg183Trp heterozygosity shows striatal dopaminergic dysfunction and response to pallidal stimulation.
    Skogseid IM; Røsby O; Konglund A; Connelly JP; Nedregaard B; Jablonski GE; Kvernmo N; Stray-Pedersen A; Glover JC
    J Neurodev Disord; 2018 May; 10(1):17. PubMed ID: 29788902
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 10(2):105-118. PubMed ID: 28067622
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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; 126(Pt 8):1814-20. PubMed ID: 12805099
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 140(4):392-7. PubMed ID: 16411215
    [No Abstract]   [Full Text] [Related]  

  • 16. 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; 11(5):477-86. PubMed ID: 11875042
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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; 50(4):537-40. PubMed ID: 11601506
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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; 22(9):1328-31. PubMed ID: 17534980
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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; 12(1):14959. PubMed ID: 36056138
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 12.