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Items: 1 to 20 of 109

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. doi: 10.1002/mds.25394.

PMID:
23418071
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. doi: 10.1002/mds.25033.

PMID:
22736418
3.

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.

PMID:
18952432
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.

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. doi: 10.1002/mds.25519. No abstract available.

PMID:
23801560
6.

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. doi: 10.1038/jhg.2011.61.

PMID:
21753765
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.

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. Review.

PMID:
12805099
9.
10.

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
11.

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
12.

C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients.

Alazami AM, Schneider SA, Bonneau D, Pasquier L, Carecchio M, Kojovic M, Steindl K, de Kerdanet M, Nezarati MM, Bhatia KP, Degos B, Goh E, Alkuraya FS.

Clin Genet. 2010 Dec;78(6):585-90. doi: 10.1111/j.1399-0004.2010.01441.x.

PMID:
20507343
13.

Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study.

Djarmati A, Schneider SA, Lohmann K, Winkler S, Pawlack H, Hagenah J, Brüggemann N, Zittel S, Fuchs T, Raković A, Schmidt A, Jabusch HC, Wilcox R, Kostić VS, Siebner H, Altenmüller E, Münchau A, Ozelius LJ, Klein C.

Lancet Neurol. 2009 May;8(5):447-52. doi: 10.1016/S1474-4422(09)70083-3.

PMID:
19345148
14.

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, et al.

J Med Genet. 1995 Apr;32(4):257-63.

15.

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.

PMID:
17999202
16.

[Mohr-Tranebjaerg syndrome].

Ohkoshi N.

Ryoikibetsu Shokogun Shirizu. 2001;(36):213-6. Review. Japanese. No abstract available.

PMID:
11596373
17.

Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study.

Bressman SB, Raymond D, Fuchs T, Heiman GA, Ozelius LJ, Saunders-Pullman R.

Lancet Neurol. 2009 May;8(5):441-6. doi: 10.1016/S1474-4422(09)70081-X.

18.

THAP1 mutations (DYT6) are an additional cause of early-onset dystonia.

Houlden H, Schneider SA, Paudel R, Melchers A, Schwingenschuh P, Edwards M, Hardy J, Bhatia KP.

Neurology. 2010 Mar 9;74(10):846-50. doi: 10.1212/WNL.0b013e3181d5276d.

19.

Phenotypic heterogeneity in Woodhouse-Sakati syndrome: two new families with a mutation in the C2orf37 gene.

Ben-Omran T, Ali R, Almureikhi M, Alameer S, Al-Saffar M, Walsh CA, Felie JM, Teebi A.

Am J Med Genet A. 2011 Nov;155A(11):2647-53. doi: 10.1002/ajmg.a.34219.

PMID:
21964978
20.

DYT6 dystonia: mutation screening, phenotype, and response to deep brain stimulation.

Groen JL, Ritz K, Contarino MF, van de Warrenburg BP, Aramideh M, Foncke EM, van Hilten JJ, Schuurman PR, Speelman JD, Koelman JH, de Bie RM, Baas F, Tijssen MA.

Mov Disord. 2010 Oct 30;25(14):2420-7. doi: 10.1002/mds.23285.

PMID:
20687191

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