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Items: 1 to 20 of 123

1.

Metabolic changes in DYT11 myoclonus-dystonia.

Carbon M, Raymond D, Ozelius L, Saunders-Pullman R, Frucht S, Dhawan V, Bressman S, Eidelberg D.

Neurology. 2013 Jan 22;80(4):385-91. doi: 10.1212/WNL.0b013e31827f0798. Epub 2013 Jan 2.

2.

Regional metabolism in primary torsion dystonia: effects of penetrance and genotype.

Carbon M, Su S, Dhawan V, Raymond D, Bressman S, Eidelberg D.

Neurology. 2004 Apr 27;62(8):1384-90.

PMID:
15111678
3.

Disorganized sensorimotor integration in mutation-positive myoclonus-dystonia: a functional magnetic resonance imaging study.

Beukers RJ, Foncke EM, van der Meer JN, Nederveen AJ, de Ruiter MB, Bour LJ, Veltman DJ, Tijssen MA.

Arch Neurol. 2010 Apr;67(4):469-74. doi: 10.1001/archneurol.2010.54.

PMID:
20385914
4.

Pediatric writer's cramp in myoclonus-dystonia: maternal imprinting hides positive family history.

Gerrits MC, Foncke EM, Koelman JH, Tijssen MA.

Eur J Paediatr Neurol. 2009 Mar;13(2):178-80. doi: 10.1016/j.ejpn.2008.03.007. Epub 2008 Jun 20.

PMID:
18571946
5.

Impaired sequence learning in dystonia mutation carriers: a genotypic effect.

Carbon M, Argyelan M, Ghilardi MF, Mattis P, Dhawan V, Bressman S, Eidelberg D.

Brain. 2011 May;134(Pt 5):1416-27. doi: 10.1093/brain/awr060. Epub 2011 Apr 22.

6.

Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome.

Zimprich A, Grabowski M, Asmus F, Naumann M, Berg D, Bertram M, Scheidtmann K, Kern P, Winkelmann J, Müller-Myhsok B, Riedel L, Bauer M, Müller T, Castro M, Meitinger T, Strom TM, Gasser T.

Nat Genet. 2001 Sep;29(1):66-9.

PMID:
11528394
7.

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
8.

Abnormal striatal and thalamic dopamine neurotransmission: Genotype-related features of dystonia.

Carbon M, Niethammer M, Peng S, Raymond D, Dhawan V, Chaly T, Ma Y, Bressman S, Eidelberg D.

Neurology. 2009 Jun 16;72(24):2097-103. doi: 10.1212/WNL.0b013e3181aa538f.

9.

Cortical excitability in DYT-11 positive myoclonus dystonia.

Sabine Meunier; George Lourenco, Roze E, Apartis E, Trocello JM; Marie Vidailhet.

Mov Disord. 2008 Apr 15;23(5):761-4. doi: 10.1002/mds.21954.

PMID:
18265016
10.

A neurophysiological study of myoclonus in patients with DYT11 myoclonus-dystonia syndrome.

Marelli C, Canafoglia L, Zibordi F, Ciano C, Visani E, Zorzi G, Garavaglia B, Barzaghi C, Albanese A, Soliveri P, Leone M, Panzica F, Scaioli V, Pincherle A, Nardocci N, Franceschetti S.

Mov Disord. 2008 Oct 30;23(14):2041-8. doi: 10.1002/mds.22256.

PMID:
18759336
11.

Focal brain glucose hypermetabolism in myoclonus-dystonia syndrome caused by an epsilon-sarcoglycan gene mutation.

Tai CH, Yen RF, Lin CH, Yen KY, Yip PK, Wu RM, Lee MJ.

Parkinsonism Relat Disord. 2009 Sep;15(8):614-6. doi: 10.1016/j.parkreldis.2008.11.007. Epub 2009 Mar 3. No abstract available.

PMID:
19261534
12.

Abnormal nuclear envelopes in the striatum and motor deficits in DYT11 myoclonus-dystonia mouse models.

Yokoi F, Dang MT, Zhou T, Li Y.

Hum Mol Genet. 2012 Feb 15;21(4):916-25. doi: 10.1093/hmg/ddr528. Epub 2011 Nov 11.

13.

Abnormal nuclear envelope in the cerebellar Purkinje cells and impaired motor learning in DYT11 myoclonus-dystonia mouse models.

Yokoi F, Dang MT, Yang G, Li J, Doroodchi A, Zhou T, Li Y.

Behav Brain Res. 2012 Feb 1;227(1):12-20. doi: 10.1016/j.bbr.2011.10.024. Epub 2011 Oct 21.

14.

Unusual familial presentation of epsilon-sarcoglycan gene mutation with falls and writer's cramp.

Koukouni V, Valente EM, Cordivari C, Bhatia KP, Quinn NP.

Mov Disord. 2008 Oct 15;23(13):1913-5. doi: 10.1002/mds.21935.

PMID:
18702114
15.

Functional MRI study of response inhibition in myoclonus dystonia.

van der Salm SM, van der Meer JN, Nederveen AJ, Veltman DJ, van Rootselaar AF, Tijssen MA.

Exp Neurol. 2013 Sep;247:623-9. doi: 10.1016/j.expneurol.2013.02.017. Epub 2013 Mar 6.

PMID:
23474191
16.

Is psychopathology part of the phenotypic spectrum of myoclonus-dystonia?: a study of a large Dutch M-D family.

Foncke EM, Cath D, Zwinderman K, Smit J, Schmand B, Tijssen M.

Cogn Behav Neurol. 2009 Jun;22(2):127-33. doi: 10.1097/WNN.0b013e3181a7228f.

PMID:
19506430
17.

Impaired saccadic adaptation in DYT11 dystonia.

Hubsch C, Vidailhet M, Rivaud-Péchoux S, Pouget P, Brochard V, Degos B, Pélisson D, Golmard JL, Gaymard B, Roze E.

J Neurol Neurosurg Psychiatry. 2011 Oct;82(10):1103-6. doi: 10.1136/jnnp.2010.232793. Epub 2011 Mar 8.

PMID:
21386109
18.

Novel DYT11 gene mutation in patients without dopaminergic deficit (SWEDD) screened for dystonia.

Cilia R, Reale C, Castagna A, Nasca A, Muzi-Falconi M, Barzaghi C, Marzegan A, Granata M, Marotta G, Sacilotto G, Vallauri D, Pezzoli G, Goldwurm S, Garavaglia B.

Neurology. 2014 Sep 23;83(13):1155-62. doi: 10.1212/WNL.0000000000000821. Epub 2014 Aug 22.

PMID:
25150291
19.

Earlier onset of motor deficits in mice with double mutations in Dyt1 and Sgce.

Yokoi F, Yang G, Li J, DeAndrade MP, Zhou T, Li Y.

J Biochem. 2010 Oct;148(4):459-66. doi: 10.1093/jb/mvq078. Epub 2010 Jul 13.

20.

Clinical differentiation of genetically proven benign hereditary chorea and myoclonus-dystonia.

Asmus F, Devlin A, Munz M, Zimprich A, Gasser T, Chinnery PF.

Mov Disord. 2007 Oct 31;22(14):2104-9.

PMID:
17702043
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