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Results: 1 to 20 of 105

1.

The phenotypic spectrum of DYT24 due to ANO3 mutations.

Stamelou M, Charlesworth G, Cordivari C, Schneider SA, Kägi G, Sheerin UM, Rubio-Agusti I, Batla A, Houlden H, Wood NW, Bhatia KP.

Mov Disord. 2014 Jun;29(7):928-34. doi: 10.1002/mds.25802. Epub 2014 Jan 17.

PMID:
24442708
[PubMed - in process]
Free PMC Article
2.

Chapter 33: the history of movement disorders.

Lanska DJ.

Handb Clin Neurol. 2010;95:501-46. doi: 10.1016/S0072-9752(08)02133-7. Review.

PMID:
19892136
[PubMed - indexed for MEDLINE]
3.

Clinical neuroimaging and electrophysiological assessment of three DYT6 dystonia families.

Zittel S, Moll CK, Brüggemann N, Tadic V, Hamel W, Kasten M, Lohmann K, Lohnau T, Winkler S, Gerloff C, Schönweiler R, Hagenah J, Klein C, Münchau A, Schneider SA.

Mov Disord. 2010 Oct 30;25(14):2405-12. doi: 10.1002/mds.23279.

PMID:
20687193
[PubMed - indexed for MEDLINE]
4.

Myoclonus-Dystonia.

Raymond D, Ozelius L.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2003 May 21 [updated 2012 Jan 26].

5.

Dystonia.

Morgante F, Klein C.

Continuum (Minneap Minn). 2013 Oct;19(5 Movement Disorders):1225-41. doi: 10.1212/01.CON.0000436154.08791.67. Review.

PMID:
24092288
[PubMed - indexed for MEDLINE]
6.

Myoclonic dystonia.

Obeso JA, Rothwell JC, Lang AE, Marsden CD.

Neurology. 1983 Jul;33(7):825-30.

PMID:
6683367
[PubMed - indexed for MEDLINE]
7.

Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls.

Zech M, Gross N, Jochim A, Castrop F, Kaffe M, Dresel C, Lichtner P, Peters A, Gieger C, Meitinger T, Haslinger B, Winkelmann J.

Mov Disord. 2014 Jan;29(1):143-7. doi: 10.1002/mds.25715. Epub 2013 Oct 22.

PMID:
24151159
[PubMed - indexed for MEDLINE]
8.

Genetics in dystonia.

Klein C.

Parkinsonism Relat Disord. 2014 Jan;20 Suppl 1:S137-42. doi: 10.1016/S1353-8020(13)70033-6. Review.

PMID:
24262166
[PubMed - indexed for MEDLINE]
9.

Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis.

Charlesworth G, Plagnol V, Holmström KM, Bras J, Sheerin UM, Preza E, Rubio-Agusti I, Ryten M, Schneider SA, Stamelou M, Trabzuni D, Abramov AY, Bhatia KP, Wood NW.

Am J Hum Genet. 2012 Dec 7;91(6):1041-50. doi: 10.1016/j.ajhg.2012.10.024. Epub 2012 Nov 29.

PMID:
23200863
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

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
[PubMed - indexed for MEDLINE]
11.

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. Epub 2009 Apr 1.

PMID:
19345147
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

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.

PMID:
16227522
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Familial adult myoclonic epilepsy: recognition of mild phenotypes and refinement of the 2q locus.

Crompton DE, Sadleir LG, Bromhead CJ, Bahlo M, Bellows ST, Arsov T, Harty R, Lawrence KM, Dunne JW, Berkovic SF, Scheffer IE.

Arch Neurol. 2012 Apr;69(4):474-81. doi: 10.1001/archneurol.2011.584.

PMID:
22491192
[PubMed - indexed for MEDLINE]
14.

Rest and other types of tremor in adult-onset primary dystonia.

Erro R, Rubio-Agusti I, Saifee TA, Cordivari C, Ganos C, Batla A, Bhatia KP.

J Neurol Neurosurg Psychiatry. 2014 Sep;85(9):965-8. doi: 10.1136/jnnp-2013-305876. Epub 2013 Nov 18.

PMID:
24249781
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene.

Brashear A, Dobyns WB, de Carvalho Aguiar P, Borg M, Frijns CJ, Gollamudi S, Green A, Guimaraes J, Haake BC, Klein C, Linazasoro G, Münchau A, Raymond D, Riley D, Saunders-Pullman R, Tijssen MA, Webb D, Zaremba J, Bressman SB, Ozelius LJ.

Brain. 2007 Mar;130(Pt 3):828-35. Epub 2007 Feb 4.

PMID:
17282997
[PubMed - indexed for MEDLINE]
Free Article
16.

Arm tremor in cervical dystonia differs from essential tremor and can be classified by onset age and spread of symptoms.

Münchau A, Schrag A, Chuang C, MacKinnon CD, Bhatia KP, Quinn NP, Rothwell JC.

Brain. 2001 Sep;124(Pt 9):1765-76.

PMID:
11522579
[PubMed - indexed for MEDLINE]
Free Article
17.

Phenotypic features of myoclonus-dystonia in three kindreds.

Doheny DO, Brin MF, Morrison CE, Smith CJ, Walker RH, Abbasi S, Müller B, Garrels J, Liu L, De Carvalho Aguiar P, Schilling K, Kramer P, De Leon D, Raymond D, Saunders-Pullman R, Klein C, Bressman SB, Schmand B, Tijssen MA, Ozelius LJ, Silverman JM.

Neurology. 2002 Oct 22;59(8):1187-96.

PMID:
12391346
[PubMed - indexed for MEDLINE]
18.

Tremor in primary adult-onset dystonia: prevalence and associated clinical features.

Defazio G, Gigante AF, Abbruzzese G, Bentivoglio AR, Colosimo C, Esposito M, Fabbrini G, Guidubaldi A, Girlanda P, Liguori R, Marinelli L, Morgante F, Santoro L, Tinazzi M, Livrea P, Berardelli A.

J Neurol Neurosurg Psychiatry. 2013 Apr;84(4):404-8. doi: 10.1136/jnnp-2012-303782. Epub 2012 Nov 10.

PMID:
23142961
[PubMed - indexed for MEDLINE]
19.

Myoclonus-dystonia: clinical and electrophysiologic pattern related to SGCE mutations.

Roze E, Apartis E, Clot F, Dorison N, Thobois S, Guyant-Marechal L, Tranchant C, Damier P, Doummar D, Bahi-Buisson N, André-Obadia N, Maltete D, Echaniz-Laguna A, Pereon Y, Beaugendre Y, Dupont S, De Greslan T, Jedynak CP, Ponsot G, Dussaule JC, Brice A, Dürr A, Vidailhet M.

Neurology. 2008 Mar 25;70(13):1010-6. doi: 10.1212/01.wnl.0000297516.98574.c0.

PMID:
18362280
[PubMed - indexed for MEDLINE]
20.

Dystonia: an update on phenomenology, classification, pathogenesis and treatment.

Balint B, Bhatia KP.

Curr Opin Neurol. 2014 Aug;27(4):468-76. doi: 10.1097/WCO.0000000000000114.

PMID:
24978640
[PubMed - in process]

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