Human Genome Epidemiology Literature Finder
Records 1 - 18 (of 18 Records) |
Query Trace: SGCE[original query] |
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Lack of mutations in the epsilon-sarcoglycan gene in patients with different subtypes of primary dystonias. Movement disorders : official journal of the Movement Disorder Society 2004 Nov 19 (11): 1294-7. Grundmann Kathrin, Laubis-Herrmann Ulrike, Dressler Dirk, Vollmer-Haase Juliane, Bauer Peter, Stuhrmann Manfred, Schulte Thorsten, Schöls Ludger, Topka Helge, Riess Ol |
Examination of the SGCE gene in Tourette syndrome patients with obsessive-compulsive disorder. Movement disorders : official journal of the Movement Disorder Society 2004 Oct 19 (10): 1237-8. de Carvalho Aguiar Patricia, Fazzari Melissa, Jankovic Joseph, Ozelius Laurie |
The epsilon-sarcoglycan gene in myoclonic syndromes. Neurology 2005 Feb 64 (4): 737-9. Valente E M, Edwards M J, Mir P, DiGiorgio A, Salvi S, Davis M, Russo N, Bozi M, Kim H-T, Pennisi G, Quinn N, Dallapiccola B, Bhatia K |
Myoclonus-dystonia: clinical and genetic evaluation of a large cohort. Journal of neurology, neurosurgery, and psychiatry 2009 Jun 80 (6): 653-8. Ritz K, Gerrits M C F, Foncke E M J, van Ruissen F, van der Linden C, Vergouwen M D I, Bloem B R, Vandenberghe W, Crols R, Speelman J D, Baas F, Tijssen M A |
SERT Ileu425Val in autism, Asperger syndrome and obsessive-compulsive disorder. Psychiatric genetics 2008 Feb 18 (1): 31-9. Wendland Jens R, DeGuzman Theresa B, McMahon Francis, Rudnick Gary, Detera-Wadleigh Sevilla D, Murphy Dennis |
Common polymorphisms in dystonia-linked genes and susceptibility to the sporadic primary dystonias. Parkinsonism & related disorders 2012 May 18 (4): 351-7. Newman Jeremy R B, Sutherland Greg T, Boyle Richard S, Limberg Nicole, Blum Stefan, O'Sullivan John D, Silburn Peter A, Mellick George |
[Searching for Tourette's syndrome gene. Part 2. Patient's genome variability]. Post?py higieny i medycyny do?wiadczalnej (Online) 2012 66 (0): 89-95. Kowalska Anna, Midro Alina T, Janik Piotr, Gogol Anna, S?u?ewski Wojciech, Rajewski Andrz |
Defining the epsilon-sarcoglycan (SGCE) gene phenotypic signature in myoclonus-dystonia: a reappraisal of genetic testing criteria. Movement disorders : official journal of the Movement Disorder Society 2013 Jun 28 (6): 787-94. Carecchio Miryam, Magliozzi Monia, Copetti Massimiliano, Ferraris Alessandro, Bernardini Laura, Bonetti Monica, Defazio Giovanni, Edwards Mark J, Torrente Isabella, Pellegrini Fabio, Comi Cristoforo, Bhatia Kailash P, Valente Enza Mar |
SGCE mutations cause psychiatric disorders: clinical and genetic characterization. Brain : a journal of neurology 2013 Jan 136 (Pt 1): Pt 1. Peall KJ, Smith DJ, Kurian MA, Wardle M, Waite AJ, Hedderly T, Lin JP, Smith M, Whone A, Pall H, White C, Lux A, Jardine P, Bajaj N, Lynch B, Kirov G, O'Riordan S, Samuel M, Lynch T, King MD, Chinnery PF, Warner TT, Blake DJ, Owen MJ, Morris HR |
Han Chinese patients with dopa-responsive dystonia exhibit a low frequency of exonic deletion in the GCH1 gene. Genetics and molecular research : GMR 2015 14 (3): 11185-90. Shi W T, Cai C Y, Li M S, Ling C, Li W |
Different patterns of allelic imbalance in sporadic tumors and tumors associated with long-term exposure to gamma-radiation. Mutation research. Genetic toxicology and environmental mutagenesis 2015 Dec 794 8-16. Litviakov Nikolai V, Freidin Maxim B, Sazonov Aleksey E, Khalyuzova Maria V, Buldakov Mikhail A, Karbyshev Mikhail S, Albakh ?lena N, Isubakova Daria S, Gagarin ?leksey A, Nekrasov Gennadiy B, Mironova Elena B, Izosimov ?ndrey S, Takhauov Ravil M, Karpov ?ndrei |
Psychiatric disorders, myoclonus dystonia and SGCE: an international study. Annals of clinical and translational neurology 2016 Jan 3 (1): 4-11. Peall Kathryn J, Dijk Joke M, Saunders-Pullman Rachel, Dreissen Yasmine E M, van Loon Ilke, Cath Danielle, Kurian Manju A, Owen Michael J, Foncke Elisabeth M J, Morris Huw R, Gasser Thomas, Bressman Susan, Asmus Friedrich, Tijssen Marina A |
Alcohol improves cerebellar learning deficit in myoclonus-dystonia: A clinical and electrophysiological investigation. Annals of neurology 2017 9 82 (4): 543-553. Weissbach Anne, Werner Elisa, Bally Julien F, Tunc Sinem, Löns Sebastian, Timmann Dagmar, Zeuner Kirsten E, Tadic Vera, Brüggemann Norbert, Lang Anthony, Klein Christine, Münchau Alexander, Bäumer Tobi |
Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes. Parkinsonism & related disorders 2019 11 69 111-118. Kumar Kishore R, Davis Ryan L, Tchan Michel C, Wali G M, Mahant Neil, Ng Karl, Kotschet Katya, Siow Sue-Faye, Gu Jason, Walls Zachary, Kang Ce, Wali Gautam, Levy Stan, Phua Chung Sen, Yiannikas Con, Darveniza Paul, Chang Florence C F, Morales-Briceño Hugo, Rowe Dominic B, Drew Alex, Gayevskiy Velimir, Cowley Mark J, Minoche Andre E, Tisch Stephen, Hayes Michael, Kummerfeld Sarah, Fung Victor S C, Sue Carolyn |
A preliminary exome sequence in three patients with tardive dystonia. Psychiatric genetics 2019 Dec . Kanahara Nobuhisa, Nakata Yusuke, Iyo Masao |
Cognition in children and young adults with myoclonus dystonia - A case control study. Parkinsonism & related disorders 2021 7 89 162-166. Coenen Maraike A, Eggink Hendriekje, Spikman Jacoba M, Tijssen Marina |
Genetic screening for Huntington disease phenocopies in Sweden: A tertiary center case series focused on short tandem repeat (STR) disorders. Journal of the neurological sciences 2023 6 451 120707. Martin Paucar, José Laffita-Mesa, Valter Niemelä, Helena Malmgren, Inger Nennesmo, Kristina Lagerstedt-Robinson, Magnus Nordenskjöld, Per Svenningss |
Clinical and genetic profile of patients with dystonia: An experience from a tertiary neurology center from India. Parkinsonism & related disorders 2024 1 120 105986. Debjyoti Dhar, Vikram V Holla, Riyanka Kumari, Ravi Yadav, Nitish Kamble, Babylakshmi Muthusamy, Pramod Kumar P |
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- Page last updated:Apr 22, 2024
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