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Items: 1 to 20 of 162

1.

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. Epub 2007 Aug 3.

PMID:
17999202
2.

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. doi: 10.1016/j.nmd.2008.09.009. Epub 2008 Oct 25.

PMID:
18952432
3.

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 1;11(5):477-86.

PMID:
11875042
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.

PMID:
11803487
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;126(Pt 8):1814-20. Epub 2003 Jun 4. Review.

PMID:
12805099
6.

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. Epub 2004 Jul 14.

PMID:
15254020
7.

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. No abstract available.

PMID:
16411215
8.

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;62(2):306-8.

PMID:
15710860
9.

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.

PMID:
17534980
10.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
11.

The C66W mutation in the deafness dystonia peptide 1 (DDP1) affects the formation of functional DDP1.TIM13 complexes in the mitochondrial intermembrane space.

Hofmann S, Rothbauer U, Mühlenbein N, Neupert W, Gerbitz KD, Brunner M, Bauer MF.

J Biol Chem. 2002 Jun 28;277(26):23287-93. Epub 2002 Apr 15.

12.
13.

Dystonia with and without deafness is caused by TIMM8A mutation.

Swerdlow RH, Juel VC, Wooten GF.

Adv Neurol. 2004;94:147-54. Review. No abstract available.

PMID:
14509668
14.

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;19(10):1241-3.

PMID:
15390009
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;14(2):177-80.

PMID:
8841189
16.

X-linked recessive deafness-dystonia syndrome (Mohr-Tranebjaerg syndrome).

Tranebjaerg L, Jensen PK, van Ghelue M.

Adv Otorhinolaryngol. 2000;56:176-80. No abstract available.

PMID:
10868232
17.

Alterations in expression levels of deafness dystonia protein 1 affect mitochondrial morphology.

Engl G, Florian S, Tranebjærg L, Rapaport D.

Hum Mol Genet. 2012 Jan 15;21(2):287-99. doi: 10.1093/hmg/ddr458. Epub 2011 Oct 7.

PMID:
21984432
18.

Role of the deafness dystonia peptide 1 (DDP1) in import of human Tim23 into the inner membrane of mitochondria.

Rothbauer U, Hofmann S, Mühlenbein N, Paschen SA, Gerbitz KD, Neupert W, Brunner M, Bauer MF.

J Biol Chem. 2001 Oct 5;276(40):37327-34. Epub 2001 Aug 6.

19.

Temporal bone histopathologic and genetic studies in Mohr-Tranebjaerg syndrome (DFN-1).

Merchant SN, McKenna MJ, Nadol JB Jr, Kristiansen AG, Tropitzsch A, Lindal S, Tranebjaeizrg L.

Otol Neurotol. 2001 Jul;22(4):506-11.

PMID:
11449109
20.

Contiguous X-chromosome deletion syndrome encompassing the BTK, TIMM8A, TAF7L, and DRP2 genes.

Sedivá A, Smith CI, Asplund AC, Hadac J, Janda A, Zeman J, Hansíková H, Dvoráková L, Mrázová L, Velbri S, Koehler C, Roesch K, Sullivan KE, Futatani T, Ochs HD.

J Clin Immunol. 2007 Nov;27(6):640-6. Epub 2007 Sep 12.

PMID:
17851739

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