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Results: 1 to 20 of 99

Similar articles for PubMed (Select 23212755)

1.

Extragenetic factors and clinical penetrance of DYT1 dystonia: an exploratory study.

Martino D, Gajos A, Gallo V, Cif L, Coubes P, Tinazzi M, Schneider SA, Fiorio M, Zorzi G, Nardocci N, Ben-Shlomo Y, Edwards MJ, Bhatia KP.

J Neurol. 2013 Apr;260(4):1081-6. doi: 10.1007/s00415-012-6765-2. Epub 2012 Dec 2.

PMID:
23212755
2.

Defective temporal processing of sensory stimuli in DYT1 mutation carriers: a new endophenotype of dystonia?

Fiorio M, Gambarin M, Valente EM, Liberini P, Loi M, Cossu G, Moretto G, Bhatia KP, Defazio G, Aglioti SM, Fiaschi A, Tinazzi M.

Brain. 2007 Jan;130(Pt 1):134-42. Epub 2006 Nov 14.

3.

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.

4.

Impaired body movement representation in DYT1 mutation carriers.

Fiorio M, Gambarin M, Defazio G, Valente EM, Stanzani C, Moretto G, Loi M, Soliveri P, Nardocci N, Albanese A, Fiaschi A, Tinazzi M.

Clin Neurophysiol. 2008 Aug;119(8):1864-9. doi: 10.1016/j.clinph.2008.04.292. Epub 2008 Jun 19.

PMID:
18571468
5.

Expression profiling in peripheral blood reveals signature for penetrance in DYT1 dystonia.

Walter M, Bonin M, Pullman RS, Valente EM, Loi M, Gambarin M, Raymond D, Tinazzi M, Kamm C, Glöckle N, Poths S, Gasser T, Bressman SB, Klein C, Ozelius LJ, Riess O, Grundmann K.

Neurobiol Dis. 2010 May;38(2):192-200. doi: 10.1016/j.nbd.2009.12.019. Epub 2010 Jan 4.

PMID:
20053375
6.

Genotype-phenotype interactions in primary dystonias revealed by differential changes in brain structure.

Draganski B, Schneider SA, Fiorio M, Klöppel S, Gambarin M, Tinazzi M, Ashburner J, Bhatia KP, Frackowiak RS.

Neuroimage. 2009 Oct 1;47(4):1141-7. doi: 10.1016/j.neuroimage.2009.03.057. Epub 2009 Apr 1.

7.

Obsessive-compulsive disorder is not a clinical manifestation of the DYT1 dystonia gene.

Heiman GA, Ottman R, Saunders-Pullman RJ, Ozelius LJ, Risch NJ, Bressman SB.

Am J Med Genet B Neuropsychiatr Genet. 2007 Apr 5;144B(3):361-4.

8.

Increased sensorimotor network activity in DYT1 dystonia: a functional imaging study.

Carbon M, Argyelan M, Habeck C, Ghilardi MF, Fitzpatrick T, Dhawan V, Pourfar M, Bressman SB, Eidelberg D.

Brain. 2010 Mar;133(Pt 3):690-700. doi: 10.1093/brain/awq017. Epub 2010 Mar 5.

9.

Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia.

Gambarin M, Valente EM, Liberini P, Barrano G, Bonizzato A, Padovani A, Moretto G, Fiorio M, Dallapiccola B, Smania N, Fiaschi A, Tinazzi M.

Mov Disord. 2006 Oct;21(10):1782-4.

PMID:
16874761
10.

Increased risk for recurrent major depression in DYT1 dystonia mutation carriers.

Heiman GA, Ottman R, Saunders-Pullman RJ, Ozelius LJ, Risch NJ, Bressman SB.

Neurology. 2004 Aug 24;63(4):631-7.

PMID:
15326234
11.

Frequency and phenotypic variability of the GAG deletion of the DYT1 gene in an unselected group of patients with dystonia.

Grundmann K, Laubis-Herrmann U, Bauer I, Dressler D, Vollmer-Haase J, Bauer P, Stuhrmann M, Schulte T, Schöls L, Topka H, Riess O.

Arch Neurol. 2003 Sep;60(9):1266-70.

PMID:
12975293
12.

Abnormalities in motor cortical plasticity differentiate manifesting and nonmanifesting DYT1 carriers.

Edwards MJ, Huang YZ, Mir P, Rothwell JC, Bhatia KP.

Mov Disord. 2006 Dec;21(12):2181-6.

PMID:
17078060
13.

Different patterns of electrophysiological deficits in manifesting and non-manifesting carriers of the DYT1 gene mutation.

Edwards MJ, Huang YZ, Wood NW, Rothwell JC, Bhatia KP.

Brain. 2003 Sep;126(Pt 9):2074-80. Epub 2003 Jun 23.

14.

DYT1 mutation in Korean primary dystonia patients.

Im JH, Ahn TB, Kim KB, Ko SB, Jeon BS.

Parkinsonism Relat Disord. 2004 Oct;10(7):421-3.

PMID:
15465399
15.

Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia.

Risch NJ, Bressman SB, Senthil G, Ozelius LJ.

Am J Hum Genet. 2007 Jun;80(6):1188-93. Epub 2007 Apr 27.

16.

Clinical features, DYT1 mutation screening and genotype-phenotype correlation in patients with dystonia from Iran.

Akbari MT, Zand Z, Shahidi GA, Hamid M.

Med Princ Pract. 2012;21(5):462-6. doi: 10.1159/000336783. Epub 2012 Apr 6.

PMID:
22487959
17.

Clinical characteristics of carriers of a GAG deletion in the DYT1 gene amongst Polish patients with primary dystonia.

Szczaluba K, Jurek M, Milewski M, Friedman A, Kadziolka B, Szolna A, Bal J, Mazurczak T.

Eur J Neurol. 2007 Jun;14(6):659-62.

PMID:
17539945
18.

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
19.

Phenotype of the DYT1 mutation in the TOR1A gene in a Polish population of patients with dystonia. A preliminary report.

Gajos A, Piaskowski S, Sławek J, Ochudło S, Opala G, Łobińska A, Honczarenko K, Budrewicz S, Koszewicz M, Pełszyńska B, Liberski PP, Bogucki A.

Neurol Neurochir Pol. 2007 Nov-Dec;41(6):487-94.

PMID:
18224570
20.

Frequency of the DYT1 mutation in primary torsion dystonia without family history.

Brassat D, Camuzat A, Vidailhet M, Feki I, Jedynak P, Klap P, Agid Y, Dürr A, Brice A.

Arch Neurol. 2000 Mar;57(3):333-5.

PMID:
10714658
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