Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 66

1.

An unusual neurological syndrome of crawling gait, dystonia, pyramidal signs, and limited speech.

Arif B, Grünewald A, Fatima A, Ramirez A, Ali A, Brüggemann N, Würfel J, Rolfs A, Lohmann K, Malik A, Klein C, Naz S.

Mov Disord. 2011 Oct;26(12):2279-83. doi: 10.1002/mds.23860. Epub 2011 Sep 23.

PMID:
21953512
2.

Autosomal recessive primary generalized dystonia in two siblings from a consanguineous family.

Moretti P, Hedera P, Wald J, Fink J.

Mov Disord. 2005 Feb;20(2):245-7.

3.

Genomic deletion size at the epsilon-sarcoglycan locus determines the clinical phenotype.

Asmus F, Hjermind LE, Dupont E, Wagenstaller J, Haberlandt E, Munz M, Strom TM, Gasser T.

Brain. 2007 Oct;130(Pt 10):2736-45.

PMID:
17898012
4.

Clinical characterization and evaluation of DYT1 gene in Indian primary dystonia patients.

Naiya T, Biswas A, Neogi R, Datta S, Misra AK, Das SK, Ray K, Ray J.

Acta Neurol Scand. 2006 Sep;114(3):210-5.

PMID:
16911351
5.

Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.

den Hollander AI, Lopez I, Yzer S, Zonneveld MN, Janssen IM, Strom TM, Hehir-Kwa JY, Veltman JA, Arends ML, Meitinger T, Musarella MA, van den Born LI, Fishman GA, Maumenee IH, Rohrschneider K, Cremers FP, Koenekoop RK.

Invest Ophthalmol Vis Sci. 2007 Dec;48(12):5690-8.

PMID:
18055821
6.

Rett syndrome in Spain: mutation analysis and clinical correlations.

Monrós E, Armstrong J, Aibar E, Poo P, Canós I, Pineda M.

Brain Dev. 2001 Dec;23 Suppl 1:S251-3.

PMID:
11738885
8.

Localization of candidate regions for a novel gene for Kartagener syndrome.

Gutierrez-Roelens I, Sluysmans T, Jorissen M, Amyere M, Vikkula M.

Eur J Hum Genet. 2006 Jul;14(7):809-15. Epub 2006 Apr 26.

9.

Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes.

Tezenas du Montcel S, Clot F, Vidailhet M, Roze E, Damier P, Jedynak CP, Camuzat A, Lagueny A, Vercueil L, Doummar D, Guyant-Maréchal L, Houeto JL, Ponsot G, Thobois S, Cournelle MA, Durr A, Durif F, Echenne B, Hannequin D, Tranchant C, Brice A; French Dystonia Network.

J Med Genet. 2006 May;43(5):394-400. Epub 2005 Oct 14.

10.

Refinement of the DYT15 locus in myoclonus dystonia.

Han F, Racacho L, Lang AE, Bulman DE, Grimes DA.

Mov Disord. 2007 Apr 30;22(6):888-92.

PMID:
17274032
11.
12.

Predominant dystonia with marked cerebellar atrophy: a rare phenotype in familial dystonia.

Le Ber I, Clot F, Vercueil L, Camuzat A, Viémont M, Benamar N, De Liège P, Ouvrard-Hernandez AM, Pollak P, Stevanin G, Brice A, Dürr A.

Neurology. 2006 Nov 28;67(10):1769-73.

PMID:
17130408
13.

A novel mutation in the epsilon-sarcoglycan gene causing myoclonus-dystonia syndrome.

Hjermind LE, Werdelin LM, Eiberg H, Krag-Olsen B, Dupont E, Sørensen SA.

Neurology. 2003 May 13;60(9):1536-9.

PMID:
12743249
14.

[Dopa-responsive dystonia--a hereditary dystonia easy to treat].

Farbu E, Bindoff LA.

Tidsskr Nor Laegeforen. 2002 Feb 10;122(4):379-81. Norwegian.

15.

Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families.

Riazuddin SA, Zulfiqar F, Zhang Q, Sergeev YV, Qazi ZA, Husnain T, Caruso R, Riazuddin S, Sieving PA, Hejtmancik JF.

Invest Ophthalmol Vis Sci. 2005 Jul;46(7):2264-70.

PMID:
15980210
16.

The genetics of autism.

Muhle R, Trentacoste SV, Rapin I.

Pediatrics. 2004 May;113(5):e472-86. Review.

PMID:
15121991
17.

New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: detection of candidate regions by homozygosity mapping.

Pereiro I, Valverde D, Piñeiro-Gallego T, Baiget M, Borrego S, Ayuso C, Searby C, Nishimura D.

Mol Vis. 2010 Feb 1;16:137-43.

18.

Usher syndrome in four siblings from a consanguineous family of Pakistani origin.

Trop I, Schloss MD, Polomeno R, Der Kaloustian V.

J Otolaryngol. 1995 Apr;24(2):102-4.

PMID:
7602669
19.

Inherited myoclonus-dystonia: evidence supporting genetic heterogeneity.

Grimes DA, Bulman D, George-Hyslop PS, Lang AE.

Mov Disord. 2001 Jan;16(1):106-10.

PMID:
11215567
20.

Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype.

Asmus F, Zimprich A, Tezenas Du Montcel S, Kabus C, Deuschl G, Kupsch A, Ziemann U, Castro M, Kühn AA, Strom TM, Vidailhet M, Bhatia KP, Dürr A, Wood NW, Brice A, Gasser T.

Ann Neurol. 2002 Oct;52(4):489-92.

PMID:
12325078

Supplemental Content

Support Center