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Items: 1 to 20 of 90

1.

A heterozygous frameshift mutation in PRKRA (DYT16) associated with generalised dystonia in a German patient.

Seibler P, Djarmati A, Langpap B, Hagenah J, Schmidt A, Brüggemann N, Siebner H, Jabusch HC, Altenmüller E, Münchau A, Lohmann K, Klein C.

Lancet Neurol. 2008 May;7(5):380-1. doi: 10.1016/S1474-4422(08)70075-9. No abstract available.

PMID:
18420150
2.

DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family.

Zech M, Castrop F, Schormair B, Jochim A, Wieland T, Gross N, Lichtner P, Peters A, Gieger C, Meitinger T, Strom TM, Oexle K, Haslinger B, Winkelmann J.

Mov Disord. 2014 Oct;29(12):1504-10. doi: 10.1002/mds.25981. Epub 2014 Aug 20.

PMID:
25142429
3.

DYT16: the original cases.

Camargos S, Lees AJ, Singleton A, Cardoso F.

J Neurol Neurosurg Psychiatry. 2012 Oct;83(10):1012-4. doi: 10.1136/jnnp-2012-302841. Epub 2012 Jul 28.

PMID:
22842711
4.

DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA.

Camargos S, Scholz S, Simón-Sánchez J, Paisán-Ruiz C, Lewis P, Hernandez D, Ding J, Gibbs JR, Cookson MR, Bras J, Guerreiro R, Oliveira CR, Lees A, Hardy J, Cardoso F, Singleton AB.

Lancet Neurol. 2008 Mar;7(3):207-15. doi: 10.1016/S1474-4422(08)70022-X. Epub 2008 Feb 1.

PMID:
18243799
5.

Juvenile dystonia-parkinsonism and dementia caused by a novel ATP13A2 frameshift mutation.

Crosiers D, Ceulemans B, Meeus B, Nuytemans K, Pals P, Van Broeckhoven C, Cras P, Theuns J.

Parkinsonism Relat Disord. 2011 Feb;17(2):135-8. doi: 10.1016/j.parkreldis.2010.10.011. Epub 2010 Nov 20. No abstract available.

PMID:
21094623
6.

Juvenile parkinsonism associated with heterozygous frameshift ATP13A2 gene mutation.

Fong CY, Rolfs A, Schwarzbraun T, Klein C, O'Callaghan FJ.

Eur J Paediatr Neurol. 2011 May;15(3):271-5. doi: 10.1016/j.ejpn.2011.01.001. Epub 2011 Feb 12.

PMID:
21316993
7.

Search for a founder mutation in idiopathic focal dystonia from Northern Germany.

Klein C, Ozelius LJ, Hagenah J, Breakefield XO, Risch NJ, Vieregge P.

Am J Hum Genet. 1998 Dec;63(6):1777-82.

8.

A novel frameshift mutation in UPF3B identified in brothers affected with childhood onset schizophrenia and autism spectrum disorders.

Addington AM, Gauthier J, Piton A, Hamdan FF, Raymond A, Gogtay N, Miller R, Tossell J, Bakalar J, Inoff-Germain G, Gochman P, Long R, Rapoport JL, Rouleau GA.

Mol Psychiatry. 2011 Mar;16(3):238-9. doi: 10.1038/mp.2010.59. Epub 2010 May 18. No abstract available. Erratum in: Mol Psychiatry. 2012 Apr;17(4):468. Germain, G [corrected to Inoff-Germain, G].

9.

Identification of three novel frameshift mutations of the MVK gene in four Chinese families with disseminated superficial actinic porokeratosis.

Zhou Y, Liu J, Fu X, Yu Y, Shi B, Yu G, Shi Z, Wu W, Pan F, Tian H, Liu H, Zhang F.

Br J Dermatol. 2013 Jul;169(1):193-5. doi: 10.1111/bjd.12224. No abstract available.

PMID:
23834120
11.

A frameshift mitochondrial complex I gene mutation in a patient with dystonia and cataracts: is the mutation pathogenic?

Simon DK, Tarnopolsky MA, Greenamyre JT, Johns DR.

J Med Genet. 2001 Jan;38(1):58-61. No abstract available.

12.

Early onset primary dystonia.

Zorzi G, Zibordi F, Garavaglia B, Nardocci N.

Eur J Paediatr Neurol. 2009 Nov;13(6):488-92. doi: 10.1016/j.ejpn.2008.12.001. Epub 2009 Jan 20. Review.

PMID:
19157930
13.

Screening for dystonia genes DYT1, 11 and 16 in patients with writer's cramp.

Ritz K, Groen JL, Kruisdijk JJ, Baas F, Koelman JH, Tijssen MA.

Mov Disord. 2009 Jul 15;24(9):1390-2. doi: 10.1002/mds.22632.

PMID:
19441135
14.
15.

A complete deficiency of coagulation factor XIII A-subunit due to a novel compound heterozygote of Ser 413 Leu missense and an nt 389 (ins G) frameshift mutation.

Niiya T, Osawa H, Bando S, Oto Y, Tokuda K, Takeda N, Sumioka M, Murase M, Kida K, Makino H.

Br J Haematol. 1999 Dec;107(4):772-5.

PMID:
10606883
16.

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. Epub 2009 Apr 1.

PMID:
19345148
17.

Reply to letter: Novel compound heterozygous mutations in PRKRA cause pure dystonia.

Zech M, Castrop F, Haslinger B, Winkelmann J.

Mov Disord. 2015 May;30(6):878-9. doi: 10.1002/mds.26233. Epub 2015 Apr 25. No abstract available.

PMID:
25914261
18.

Phenotypic variability of the DYT1 mutation in German dystonia patients.

Leube B, Kessler KR, Ferbert A, Ebke M, Schwendemann G, Erbguth F, Benecke R, Auburger G.

Acta Neurol Scand. 1999 Apr;99(4):248-51.

PMID:
10225357
19.

PRKRA Mutation Causing Early-Onset Generalized Dystonia-Parkinsonism (DYT16) in an Italian Family.

Quadri M, Olgiati S, Sensi M, Gualandi F, Groppo E, Rispoli V, Graafland J, Breedveld GJ, Fabbrini G, Berardelli A, Bonifati V.

Mov Disord. 2016 May;31(5):765-7. doi: 10.1002/mds.26583. Epub 2016 Mar 17. No abstract available.

PMID:
26990861
20.

Heterozygous CAV1 frameshift mutations (MIM 601047) in patients with atypical partial lipodystrophy and hypertriglyceridemia.

Cao H, Alston L, Ruschman J, Hegele RA.

Lipids Health Dis. 2008 Jan 31;7:3. doi: 10.1186/1476-511X-7-3.

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