BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

195 related articles for article (PubMed ID: 11803487)

  • 1. 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]  

  • 2. 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; 32(4):257-63. PubMed ID: 7643352
    [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. 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
    [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. 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]  

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

  • 8. 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]  

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

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

  • 11. 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; 8(6):464-7. PubMed ID: 10878669
    [TBL] [Abstract][Full Text] [Related]  

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

  • 13. 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]  

  • 14. Otopathology in Mohr-Tranebjaerg syndrome.
    Bahmad F; Merchant SN; Nadol JB; Tranebjaerg L
    Laryngoscope; 2007 Jul; 117(7):1202-8. PubMed ID: 17471106
    [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. 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]  

  • 17. Temporal bone histopathologic and genetic studies in Mohr-Tranebjaerg syndrome (DFN-1).
    Merchant SN; McKenna MJ; Nadol JB; Kristiansen AG; Tropitzsch A; Lindal S; Tranebjaeizrg L
    Otol Neurotol; 2001 Jul; 22(4):506-11. PubMed ID: 11449109
    [TBL] [Abstract][Full Text] [Related]  

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

  • 19. 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]  

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

    [Next]    [New Search]
    of 10.