PubMed (OMIM) for id: 162903

Year	Number of Results
1960	1
1975	1
1976	1
1993	1
1995	1
1996	1
1998	1
1999	2
2000	1
2001	2
2002	2
2004	1
2005	1
2024	0

1

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. Ezquerra M, et al. Arch Neurol. 2005 Feb;62(2):306-8. doi: 10.1001/archneur.62.2.306. Arch Neurol. 2005. PMID: 15710860

2

Focal dystonia caused by Mohr-Tranebjaerg syndrome with complete deletion of the DDP1 gene.

Pizzuti A, Fabbrini G, Salehi L, Vacca L, Inghilleri M, Dallapiccola B, Berardelli A. Pizzuti A, et al. Neurology. 2004 Mar 23;62(6):1021-2. doi: 10.1212/01.wnl.0000115174.96423.a8. Neurology. 2004. PMID: 15037720 No abstract available.

3

Sex-linked deafness of a possibly new type.

MOHR J, MAGEROY K. MOHR J, et al. Acta Genet Stat Med. 1960;10:54-62. doi: 10.1159/000151118. Acta Genet Stat Med. 1960. PMID: 13771732 No abstract available.

4

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. Hofmann S, et al. J Biol Chem. 2002 Jun 28;277(26):23287-93. doi: 10.1074/jbc.M201154200. Epub 2002 Apr 15. J Biol Chem. 2002. PMID: 11956200 Free article.

5

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. Roesch K, et al. Hum Mol Genet. 2002 Mar 1;11(5):477-86. doi: 10.1093/hmg/11.5.477. Hum Mol Genet. 2002. PMID: 11875042

6

A novel deafness/dystonia peptide gene mutation that causes dystonia in female carriers of Mohr-Tranebjaerg syndrome.

Swerdlow RH, Wooten GF. Swerdlow RH, et al. Ann Neurol. 2001 Oct;50(4):537-40. doi: 10.1002/ana.1160. Ann Neurol. 2001. PMID: 11601506

7

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. Ujike H, et al. Arch Neurol. 2001 Jun;58(6):1004-7. doi: 10.1001/archneur.58.6.1004. Arch Neurol. 2001. PMID: 11405816 Review.

8

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. Tranebjaerg L, et al. Eur J Hum Genet. 2000 Jun;8(6):464-7. doi: 10.1038/sj.ejhg.5200483. Eur J Hum Genet. 2000. PMID: 10878669

9

Human deafness dystonia syndrome is a mitochondrial disease.

Koehler CM, Leuenberger D, Merchant S, Renold A, Junne T, Schatz G. Koehler CM, et al. Proc Natl Acad Sci U S A. 1999 Mar 2;96(5):2141-6. doi: 10.1073/pnas.96.5.2141. Proc Natl Acad Sci U S A. 1999. PMID: 10051608 Free PMC article.

10

Mitochondria and dystonia: the movement disorder connection?

Wallace DC, Murdock DG. Wallace DC, et al. Proc Natl Acad Sci U S A. 1999 Mar 2;96(5):1817-9. doi: 10.1073/pnas.96.5.1817. Proc Natl Acad Sci U S A. 1999. PMID: 10051550 Free PMC article. No abstract available.

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