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Items: 1 to 20 of 47

1.

GNAL mutation in isolated laryngeal dystonia.

Putzel GG, Fuchs T, Battistella G, Rubien-Thomas E, Frucht SJ, Blitzer A, Ozelius LJ, Simonyan K.

Mov Disord. 2016 May;31(5):750-5. doi: 10.1002/mds.26502. Epub 2016 Feb 1.

2.

Screening of GNAL variants in Brazilian patients with isolated dystonia reveals a novel mutation with partial loss of function.

Dos Santos CO, Masuho I, da Silva-Júnior FP, Barbosa ER, Silva SM, Borges V, Ferraz HB, Rocha MS, Limongi JC, Martemyanov KA, de Carvalho Aguiar P.

J Neurol. 2016 Apr;263(4):665-8. doi: 10.1007/s00415-016-8026-2. Epub 2016 Jan 25.

3.

Novel GNAL mutation with intra-familial clinical heterogeneity: Expanding the phenotype.

Carecchio M, Panteghini C, Reale C, Barzaghi C, Monti V, Romito L, Sasanelli F, Garavaglia B.

Parkinsonism Relat Disord. 2016 Feb;23:66-71. doi: 10.1016/j.parkreldis.2015.12.012. Epub 2015 Dec 18.

PMID:
26725140
4.

Mutations in GNAL gene in 214 cases with isolated dystonia.

Ma LY, Wang L, Yang YM, Wan XH.

Parkinsonism Relat Disord. 2015 Nov;21(11):1367-8. doi: 10.1016/j.parkreldis.2015.08.026. Epub 2015 Sep 2. No abstract available.

PMID:
26365774
5.

Novel GNAL mutations in two German patients with sporadic dystonia.

Ziegan J, Wittstock M, Westenberger A, Dobričić V, Wolters A, Benecke R, Klein C, Kamm C.

Mov Disord. 2014 Dec;29(14):1833-4. doi: 10.1002/mds.26066. Epub 2014 Nov 7. No abstract available.

PMID:
25382112
6.

De novo mutation in the GNAL gene causing seemingly sporadic dystonia in a Serbian patient.

Dobričić V, Kresojević N, Westenberger A, Svetel M, Tomić A, Ralić V, Petrović I, Lukić MJ, Lohmann K, Novaković I, Klein C, Kostić VS.

Mov Disord. 2014 Aug;29(9):1190-3. doi: 10.1002/mds.25876. Epub 2014 Apr 13.

PMID:
24729450
7.

Mutations in GNAL: a novel cause of craniocervical dystonia.

Kumar KR, Lohmann K, Masuho I, Miyamoto R, Ferbert A, Lohnau T, Kasten M, Hagenah J, Brüggemann N, Graf J, Münchau A, Kostic VS, Sue CM, Domingo AR, Rosales RL, Lee LV, Freimann K, Westenberger A, Mukai Y, Kawarai T, Kaji R, Klein C, Martemyanov KA, Schmidt A.

JAMA Neurol. 2014 Apr;71(4):490-4. doi: 10.1001/jamaneurol.2013.4677.

8.

Screening of mutations in GNAL in sporadic dystonia patients.

Dufke C, Sturm M, Schroeder C, Moll S, Ott T, Riess O, Bauer P, Grundmann K.

Mov Disord. 2014 Aug;29(9):1193-6. doi: 10.1002/mds.25794. Epub 2014 Jan 9.

PMID:
24408567
9.

No pathogenic GNAL mutations in 192 sporadic and familial cases of cervical dystonia.

Charlesworth G, Bhatia KP, Wood NW.

Mov Disord. 2014 Jan;29(1):154-5. doi: 10.1002/mds.25713. Epub 2013 Nov 12. No abstract available.

10.

Mutation screening of GNAL gene in patients with primary dystonia from Northeast China.

Miao J, Wan XH, Sun Y, Feng JC, Cheng FB.

Parkinsonism Relat Disord. 2013 Oct;19(10):910-2. doi: 10.1016/j.parkreldis.2013.05.011. Epub 2013 Jun 10.

PMID:
23759320
11.

Role of Gα(olf) in familial and sporadic adult-onset primary dystonia.

Vemula SR, Puschmann A, Xiao J, Zhao Y, Rudzińska M, Frei KP, Truong DD, Wszolek ZK, LeDoux MS.

Hum Mol Genet. 2013 Jun 15;22(12):2510-9. doi: 10.1093/hmg/ddt102. Epub 2013 Feb 27.

12.

Mutations in GNAL cause primary torsion dystonia.

Fuchs T, Saunders-Pullman R, Masuho I, Luciano MS, Raymond D, Factor S, Lang AE, Liang TW, Trosch RM, White S, Ainehsazan E, Hervé D, Sharma N, Ehrlich ME, Martemyanov KA, Bressman SB, Ozelius LJ.

Nat Genet. 2013 Jan;45(1):88-92. doi: 10.1038/ng.2496. Epub 2012 Dec 9.

13.

Subcellular localization of a novel G protein XLGalpha(olf).

Akita K, Takahashi Y, Kataoka M, Saito K, Kaneko H.

Biochem Biophys Res Commun. 2009 Apr 17;381(4):582-6. doi: 10.1016/j.bbrc.2009.02.093. Epub 2009 Feb 24.

PMID:
19245791
14.

Investigation of the G protein subunit Galphaolf gene (GNAL) in attention deficit/hyperactivity disorder.

Laurin N, Ickowicz A, Pathare T, Malone M, Tannock R, Schachar R, Kennedy JL, Barr CL.

J Psychiatr Res. 2008 Jan;42(2):117-24. Epub 2006 Dec 12.

15.

Alternative transcripts and evidence of imprinting of GNAL on 18p11.2.

Corradi JP, Ravyn V, Robbins AK, Hagan KW, Peters MF, Bostwick R, Buono RJ, Berrettini WH, Furlong ST.

Mol Psychiatry. 2005 Nov;10(11):1017-25.

PMID:
16044173
16.

Analysis of polymorphisms in the alpha-subunit of the olfactory G-protein Golf in lithium-treated bipolar patients.

Zill P, Malitas PN, Bondy B, Engel R, Boufidou F, Behrens S, Alevizos BE, Nikolaou CK, Christodoulou GN.

Psychiatr Genet. 2003 Jun;13(2):65-9.

PMID:
12782961
17.

G-protein alpha(olf) subunit promotes cellular invasion, survival, and neuroendocrine differentiation in digestive and urogenital epithelial cells.

Régnauld K, Nguyen QD, Vakaet L, Bruyneel E, Launay JM, Endo T, Mareel M, Gespach C, Emami S.

Oncogene. 2002 Jun 6;21(25):4020-31.

18.

Analysis of polymorphisms in the olfactory G-protein Golf in major depression.

Zill P, Engel R, Baghai TC, Zwanzger P, Schüle C, Minov C, Behrens S, Rupprecht R, Möller HJ, Bondy B.

Psychiatr Genet. 2002 Mar;12(1):17-22.

PMID:
11901355
19.

Sequence and genomic organization of the human G-protein Golfalpha gene (GNAL) on chromosome 18p11, a susceptibility region for bipolar disorder and schizophrenia.

Vuoristo JT, Berrettini WH, Overhauser J, Prockop DJ, Ferraro TN, Ala-Kokko L.

Mol Psychiatry. 2000 Sep;5(5):495-501.

PMID:
11032382
20.

Cellular and subcellular expression of Golf/Gs and Gq/G11 alpha-subunits in rat pancreatic endocrine cells.

Astesano A, Regnauld K, Ferrand N, Gingras D, Bendayan M, Rosselin G, Emami S.

J Histochem Cytochem. 1999 Mar;47(3):289-302.

PMID:
10026232

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