| SGCE promotes breast cancer stemness by promoting the transcription of FGF-BP1 by Sp1. | SGCE promotes breast cancer stemness by promoting the transcription of FGF-BP1 by Sp1.
Qiu T, Hou L, Zhao L, Wang X, Zhou Z, Yang C, Zhang H, Jiang D, Jiao B, Chen C., Free PMC Article | 12/4/2023 |
| Cortical neuronal hyperexcitability and synaptic changes in SGCE mutation-positive myoclonus dystonia. | Cortical neuronal hyperexcitability and synaptic changes in SGCE mutation-positive myoclonus dystonia.
Sperandeo A, Tamburini C, Noakes Z, de la Fuente DC, Keefe F, Petter O, Plumbly W, Clifton NE, Li M, Peall KJ., Free PMC Article | 04/24/2023 |
| Loss-of-function mutations in SGCE found in Japanese patients with myoclonus-dystonia. | Loss-of-function mutations in SGCE found in Japanese patients with myoclonus-dystonia.
Azuma K, Horisawa S, Mashimo H, Fukuda M, Kumada S, Kawamata T, Taira T, Akagawa H. | 01/14/2023 |
| First report of pathogenic SGCE variants in Mexican patients with myoclonus dystonia: A five-year follow-up study. | First report of pathogenic SGCE variants in Mexican patients with myoclonus dystonia: A five-year follow-up study.
Dávila-Ortiz de Montellano DJ, González-Del Rincón ML, Monroy-Jaramillo N, Abundes-Corona A, Ospina-García N, Rodríguez-Violante M, Leal-Ortega R, Paisan-Ruiz C, López-López M. | 02/5/2022 |
| epsilon-Sarcoglycan: Unraveling the Myoclonus-Dystonia Gene. | ε-Sarcoglycan: Unraveling the Myoclonus-Dystonia Gene.
Cazurro-Gutiérrez A, Marcé-Grau A, Correa-Vela M, Salazar A, Vanegas MI, Macaya A, Bayés À, Pérez-Dueñas B. | 01/1/2022 |
| Favorable response to carbamazepine therapy in genetically proven myoclonus-dystonia child. | Favorable response to carbamazepine therapy in genetically proven myoclonus-dystonia child.
Aljabri MF, Kamal NM, Alghamdi A, Alghamdi H, Alomairi N., Free PMC Article | 11/6/2021 |
| Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome. | Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome.
Vanegas MI, Marcé-Grau A, Martí-Sánchez L, Mellid S, Baide-Mairena H, Correa-Vela M, Cazurro A, Rodríguez C, Toledo L, Fernández-Ramos JA, Pons R, Aguilera-Albesa S, Martí MJ, Eiris J, Iglesias G, De Fabregues O, Maqueda E, Garriz-Luis M, Madruga M, Espinós C, Macaya A, Cabrera JC, Pérez-Dueñas B. | 10/23/2021 |
| SGCE gene variants can cause myoclonus dystonia syndrome. The onset of the disease may occur at infancy or preschool age, with either myoclonic jerks or dystonia as the initial symptom.--- SGCE gene is imprinted maternally, and the inherited variants of SGCE are paternal in origin. | [Clinical and genetic analysis of childhood-onset myoclonus dystonia syndrome caused by SGCE variants].
Tian XJ, Ding CH, Zhang YH, Dai LF, Chen CH, Li JW, Wang X, Han TL, Wang XH, Deng J. | 03/21/2020 |
| SGCE mutations can occur in sporadic patients when the phenotype is consistent with Myoclonus-Dystonia syndrome. | Screening for SGCE mutations in Moroccan sporadic patients with Myoclonus-Dystonia syndrome.
Rachad L, El Otmani H, Karkar A, El Moutawakil B, El Kadmiri N, Nadifi S. | 06/29/2019 |
| The characterization of iPSC-derived cortical neurons with mutations in SGCE revealed that these cells are a suitable model mirroring the endogenous environment in the myoclonus-dystonia patient brain, especially, when focusing on concrete molecular aspects of the disease mechanism. | Faithful SGCE imprinting in iPSC-derived cortical neurons: an endogenous cellular model of myoclonus-dystonia.
Grütz K, Seibler P, Weissbach A, Lohmann K, Carlisle FA, Blake DJ, Westenberger A, Klein C, Grünewald A., Free PMC Article | 10/27/2018 |
| A novel nonsense SGCE mutation was found in a Japanese family with myoclonus-dystonia. | Novel SGCE mutation (p.Glu65*) in a Japanese family with myoclonus-dystonia.
Koide N, Dateki S, Watanabe K, Moriuchi H. | 07/21/2018 |
| This study demonstrated that Psychiatric features are not likely to be related with the SGCE mutation itself but just bespeak disability in clinical MD syndrome regardless of the SGCE mutation. | Psychiatric symptoms in myoclonus-dystonia syndrome are just concomitant features regardless of the SGCE gene mutation.
Kim JY, Lee WW, Shin CW, Kim HJ, Park SS, Chung SJ, Cho JW, Ryu HS, Son TO, Jeon B. | 06/9/2018 |
| SGCE mutation can cause a broad range of clinical symptoms between and within families. We should consider MDS as a differential diagnosis for patients with paroxysmal walking abnormalities and/or myoclonic movements. | Japanese familial case of myoclonus-dystonia syndrome with a splicing mutation in SGCE.
Wada T, Takano K, Tsurusaki Y, Miyake N, Nakashima M, Saitsu H, Matsumoto N, Osaka H. | 12/17/2016 |
| Tata confirms that SGCE mutations are most commonly identified in Myoclonus dystonia syndrome patients with (1) age at onset </=10 years and (2) predominant upper body involvement of a pure myoclonus-dystonia. | SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype.
Peall KJ, Kurian MA, Wardle M, Waite AJ, Hedderly T, Lin JP, Smith M, Whone A, Pall H, White C, Lux A, Jardine PE, Lynch B, Kirov G, O'Riordan S, Samuel M, Lynch T, King MD, Chinnery PF, Warner TT, Blake DJ, Owen MJ, Morris HR., Free PMC Article | 09/26/2015 |
| found one patient with a novel heterozygous frameshift mutation in the DYT11 gene | 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., Free PMC Article | 11/29/2014 |
| The co-occurrence of seizures and myoclonus-dystonia suggests that they are both due to the same underlying SGCE mutation | Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation.
Haugarvoll K, Tzoulis C, Tran GT, Karlsen B, Engelsen BA, Knappskog PM, Bindoff LA. | 10/4/2014 |
| A novel frameshift mutation of the SGCE gene in an Iranian family with Myoclonus-dystonia syndrome confirming the variability of the clinical symptoms caused by the same mutation within members of a family. | Myoclonus dystonia syndrome: a novel ε-sarcoglycan gene mutation with variable clinical symptoms.
Akbari MT, Mirfakhraie R, Zare-Karizi S, Shahidi G. | 10/4/2014 |
| In myoclonus-dystonia syndrome patients a substantial mutation in exon 3 of SGCE gene was found. | A novel conserved mutation in SGCE gene in 3 unrelated patients with classical phenotype myoclonus-dystonia syndrome.
Szubiga M, Rudzińska M, Bik-Multanowski M, Pietrzyk JJ, Szczudlik A. | 03/1/2014 |
| The results of this study suggested performing gene dosage analysis by multiple ligation-dependent probe amplification (MLPA) to individuate large SGCE deletions that can be responsible for complex phenotypes. | Defining the epsilon-sarcoglycan (SGCE) gene phenotypic signature in myoclonus-dystonia: a reappraisal of genetic testing criteria.
Carecchio M, Magliozzi M, Copetti M, Ferraris A, Bernardini L, Bonetti M, Defazio G, Edwards MJ, Torrente I, Pellegrini F, Comi C, Bhatia KP, Valente EM. | 02/1/2014 |
| SGCE mutations are associated with a specific psychiatric phenotype consisting of compulsivity, anxiety and alcoholism in addition to the characteristic motor phenotype. | SGCE mutations cause psychiatric disorders: clinical and genetic characterization.
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., Free PMC Article | 04/27/2013 |
| Although reduced penetrance in DYT11-MD has been attributed to the maternal imprinting epsilon-sarcoglycan mutations, NM-DYT11 carriers showed significant metabolic abnormalities that are not explained by this genetic model. | Metabolic changes in DYT11 myoclonus-dystonia.
Carbon M, Raymond D, Ozelius L, Saunders-Pullman R, Frucht S, Dhawan V, Bressman S, Eidelberg D., Free PMC Article | 03/23/2013 |
| anxiety disorders and executive dysfunctions may be part of the phenotype of myoclonus-dystonia patients with a DYT11 mutation | Cognition and psychopathology in myoclonus-dystonia.
van Tricht MJ, Dreissen YE, Cath D, Dijk JM, Contarino MF, van der Salm SM, Foncke EM, Groen JL, Schmand B, Tijssen MA. | 09/22/2012 |
| The results of this review confirmed the association of epsilon-sarcoglycan gene mutations with psychiatric disease and suggest a possible separation of the motor and psychiatric effects. | Psychiatric disorders, myoclonus dystonia, and the epsilon-sarcoglycan gene: a systematic review.
Peall KJ, Waite AJ, Blake DJ, Owen MJ, Morris HR. | 04/28/2012 |
| This report presents a novel mutation in the SGCE gene causing myoclonus dystonia and extends the phenotype of myoclonus dystonia to also include alcohol-induced dystonia. | A novel SGCE gene mutation causing myoclonus dystonia in a family with an unusual phenotype.
Tedroff K, Rolfs A, Norling A. | 04/21/2012 |
| Dystonia severity in twenty-five clinically affected DYT11 mutation carriers is strongly correlated with increased gray matter volume in bilateral putamina. | Severity of dystonia is correlated with putaminal gray matter changes in myoclonus-dystonia.
Beukers RJ, van der Meer JN, van der Salm SM, Foncke EM, Veltman DJ, Tijssen MA. | 04/7/2012 |