| cases extend and support prior limited literature that suggested that cervical dystonia from GNAL mutations may significantly improve with GPi deep brain stimulation | Deep Brain Stimulation in Isolated Dystonia With a GNAL Mutation.
Sarva H, Trosch R, Kiss ZHT, Furtado S, Luciano MS, Glickman A, Raymond D, Ozelius LJ, Bressman SB, Saunders-Pullman R., Free PMC Article | 01/4/2020 |
| GNAL mutation may represent one of the rare causative genetic factors of isolated laryngeal dystonia. | GNAL mutation in isolated laryngeal dystonia.
Putzel GG, Fuchs T, Battistella G, Rubien-Thomas E, Frucht SJ, Blitzer A, Ozelius LJ, Simonyan K., Free PMC Article | 12/30/2017 |
| GNAL mutations are not a common cause of dystonia in the Brazilian population | 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., Free PMC Article | 01/28/2017 |
| We report a novel GNAL mutation in Italian family with adult-onset, dominantly-inherited dystonia | 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. | 11/5/2016 |
| Mutations in the GNAL gene may not be a common cause of isolated dystonia in the Chinese population. | Mutations in GNAL gene in 214 cases with isolated dystonia.
Ma LY, Wang L, Yang YM, Wan XH. | 09/10/2016 |
| This study demonstrated that Mutations in GNAL may cause Dystonia. | Mutations in ANO3 and GNAL gene in thirty-three isolated dystonia families.
Ma LY, Wang L, Yang YM, Feng T, Wan XH. | 01/2/2016 |
| identified two novel GNAL mutations: one heterozygous missense variant in GNAL exon 4, c.289A>G. | 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. | 09/26/2015 |
| The findings of this study further support GNAL as causative gene in adult-onset isolated dystonia. | 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. | 04/25/2015 |
| This study identified a novel likely disease-causing GNAL mutation in a Serbian patient with cervical dystonia and a classical DYT25 phenotype. | 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. | 04/25/2015 |
| Primary dystonia in the Amish-Mennonites is genetically diverse and includes not only the THAP1 indel founder mutation but also different mutations in THAP1 and GNAL as well as the TOR1A GAG deletion. | Heterogeneity in primary dystonia: lessons from THAP1, GNAL, and TOR1A in Amish-Mennonites.
Saunders-Pullman R, Fuchs T, San Luciano M, Raymond D, Brashear A, Ortega R, Deik A, Ozelius LJ, Bressman SB., Free PMC Article | 12/20/2014 |
| GNAL variants seem to be a rare cause of primary torsion dystonia in our mainly sporadic German sample. | 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. | 09/20/2014 |
| Our own data suggest that GNAL mutations do not represent a common cause of dystonia in the U.K. population. | No pathogenic GNAL mutations in 192 sporadic and familial cases of cervical dystonia.
Charlesworth G, Bhatia KP, Wood NW., Free PMC Article | 09/20/2014 |
| The GNAL dystonia gene is central for striatal responses to dopamine (DA) and is a component of a molecular pathway already implicated in DOPA-responsive dystonia (DRD). | New genetic insights highlight 'old' ideas on motor dysfunction in dystonia.
Goodchild RE, Grundmann K, Pisani A. | 07/26/2014 |
| GNAL mutations potentially increase ethnic susceptibility to movement disorders induced by dopamine antagonists. | 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., Free PMC Article | 06/14/2014 |
| Mutations in GNAL gene can cause adult-onset primary dystonia in Chinese patients | Mutation screening of GNAL gene in patients with primary dystonia from Northeast China.
Miao J, Wan XH, Sun Y, Feng JC, Cheng FB. | 04/26/2014 |
| Familial adult-onset primary dystonia can result from mutations in GNAL. | 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., Free PMC Article | 01/4/2014 |
| Mutations in GNAL cause primary torsion dystonia. | 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., Free PMC Article | 02/23/2013 |
| these findings provide important clues to understanding physiological functions of XLGalpha(olf). | XLGαolf regulates expression of p27Kip1 in a CSN5 and CDK2 dependent manner.
Akita K, Takahashi Y, Takata N, Hashimoto M, Kataoka M, Tomigahara Y, Saito K. | 02/25/2012 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| This study provides important clues toward understanding physiological functions of XLGalpha(olf). | Subcellular localization of a novel G protein XLGalpha(olf).
Akita K, Takahashi Y, Kataoka M, Saito K, Kaneko H. | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | Case-control association study of 65 candidate genes revealed a possible association of a SNP of HTR5A to be a factor susceptible to bipolar disease in Bulgarian population.
Yosifova A, Mushiroda T, Stoianov D, Vazharova R, Dimova I, Karachanak S, Zaharieva I, Milanova V, Madjirova N, Gerdjikov I, Tolev T, Velkova S, Kirov G, Owen MJ, O'Donovan MC, Toncheva D, Nakamura Y. | 04/8/2009 |
| Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) | 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. | 03/13/2008 |
| We hypothesized that the G(s)-like subunit Galpha(olf), expressed in D1-rich areas of the brain, contributes to the genetic susceptibility of ADHD. We examined the inheritance pattern of 12 GNAL polymorphisms in 258 nuclear families. | 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., Free PMC Article | 01/21/2010 |
| investigation of whether polymorphisms in the alpha subunit of the Golf gene (A-->G in intron 3, and T-->G in intron 10) are associated with major depression; additionally tested for a parent-of-origin effect in separated gender groups | 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. | 01/21/2010 |
| identified a transcriptional variant of the GNAL gene in chromosome 18p11.2 in susceptibility to bipolar disorder and schizophrenia | 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. | 01/21/2010 |