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Artículos de revistas sobre el tema "SGCIE"

Autor: Grafiati

Publicado: 4 de junio de 2021

Última modificación: 18 de febrero de 2022

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1

Kutschenko, Anna, Selma Staege, Karen Grütz, Hannes Glaß, Norman Kalmbach, Thomas Gschwendtberger, Lisa M. Henkel et al. "Functional and Molecular Properties of DYT-SGCE Myoclonus-Dystonia Patient-Derived Striatal Medium Spiny Neurons". International Journal of Molecular Sciences 22, n.º 7 (30 de marzo de 2021): 3565. http://dx.doi.org/10.3390/ijms22073565.

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Myoclonus-dystonia (DYT-SGCE, formerly DYT11) is characterized by alcohol-sensitive, myoclonic-like appearance of fast dystonic movements. It is caused by mutations in the SGCE gene encoding ε-sarcoglycan leading to a dysfunction of this transmembrane protein, alterations in the cerebello-thalamic pathway and impaired striatal plasticity. To elucidate underlying pathogenic mechanisms, we investigated induced pluripotent stem cell (iPSC)-derived striatal medium spiny neurons (MSNs) from two myoclonus-dystonia patients carrying a heterozygous mutation in the SGCE gene (c.298T>G and c.304C>T with protein changes W100G and R102X) in comparison to two matched healthy control lines. Calcium imaging showed significantly elevated basal intracellular Ca2+ content and lower frequency of spontaneous Ca2+ signals in SGCE MSNs. Blocking of voltage-gated Ca2+ channels by verapamil was less efficient in suppressing KCl-induced Ca2+ peaks of SGCE MSNs. Ca2+ amplitudes upon glycine and acetylcholine applications were increased in SGCE MSNs, but not after GABA or glutamate applications. Expression of voltage-gated Ca2+ channels and most ionotropic receptor subunits was not altered. SGCE MSNs showed significantly reduced GABAergic synaptic density. Whole-cell patch-clamp recordings displayed elevated amplitudes of miniature postsynaptic currents and action potentials in SGCE MSNs. Our data contribute to a better understanding of the pathophysiology and the development of novel therapeutic strategies for myoclonus-dystonia.

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2

Gasser, T. y F. Asmus. "Genetik und molekulare Pathogenese der Myoklonus-Dystonie". Nervenheilkunde 23, n.º 02 (2004): 99–103. http://dx.doi.org/10.1055/s-0038-1626285.

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ZusammenfassungMyoklonus-Dystonie (M-D, DYT11) zählt zu den »Dystonie-Plus-Syndromen«. Patienten zeigen neben fokalen oder segmentalen Dystonien, die sich meist als Schreibkrampf oder zervikale Dystonie manifestieren, v. a. kurz andauernde, »blitzartige« Myoklonien mit Betonung an Hals und oberen Extremitäten. Alkohol bessert die Bewegungsstörung in sehr vielen Fällen drastisch. Heterozygote Mutationen im ɛ-Sarkoglykangen (SGCE) kosegregieren mit der Erkrankung in Familien mit Myoklonus- Dystonie. Dabei handelt es sich in der überwiegenden Mehrzahl um Nonsense- oder Spleißstellenmutationen, die höchstwahrscheinlich zu einem Funktionsverlust des kodierten Proteins führen. Der pathogenetische Mechanismus, durch den ein Fehlen von ɛ-Sarkoglykan im Gehirn M-D auslöst, wurde bisher nicht experimentell aufgeklärt. Für die SGCE-Genregion auf Chromosom 7q21 ist maternales genomisches Imprinting bekannt. Dieser Mechanismus epigenetischer Modifikation führt durch spezifische Methylierung des maternalen SGCE-Promotors zu einer fast ausschließlichen Transkription des paternalen Allels. Dies erklärt die transmissionsspezifische Unterdrückung des M-D-Phänotyps nach Übertragung der Mutation durch die Mutter. M-D ist eine genetisch heterogene Erkrankung. Nur in jeweils einer Familie konnten eine Missense-Mutation im Gen für den D2-Dopamin- Rezeptor bzw. eine Deletion im TorsinA-Gen zusätzlich zu den SGCE-Mutationen nachgewiesen werden. Auf Chromosom 18p wurde bei einer SGCE-negativen M-DFamilie mit typischem Phänotyp ein weiterer Genlocus kartiert (DYT15).

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3

Piras, Graziella, Aboubaker El Kharroubi, Serguei Kozlov, Diana Escalante-Alcalde, Lidia Hernandez, Neal G. Copeland, Debra J. Gilbert, Nancy A. Jenkins y Colin L. Stewart. "Zac1 (Lot1), a Potential Tumor Suppressor Gene, and the Gene for ɛ-Sarcoglycan Are Maternally Imprinted Genes: Identification by a Subtractive Screen of Novel Uniparental Fibroblast Lines". Molecular and Cellular Biology 20, n.º 9 (1 de mayo de 2000): 3308–15. http://dx.doi.org/10.1128/mcb.20.9.3308-3315.2000.

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ABSTRACT Imprinted genes are expressed from one allele according to their parent of origin, and many are essential to mammalian embryogenesis. Here we show that the ɛ-sarcoglycan gene (Sgce) andZac1 (Lot1) are both paternally expressed imprinted genes. They were identified in a subtractive screen for imprinted genes using a cDNA library made from novel parthenogenetic and wild-type fibroblast lines. Sgce is a component of the dystrophin-sarcoglycan complex, Zac1 is a nuclear protein inducing growth arrest and/or apoptosis, and Zac1 is a potential tumor suppressor gene. Sgce and Zac1 are expressed predominantly from their paternal alleles in all adult mouse tissues, except that Zac1 is biallelic in the liver andSgce is weakly expressed from the maternal allele in the brain. Sgce and Zac1 are broadly expressed in embryos, with Zac1 being highly expressed in the liver primordium, the umbilical region, and the neural tube.Sgce, however, is strongly expressed in the allantoic region on day 9.5 but becomes more widely expressed throughout the embryo by day 11.5. Sgce is located at the proximal end of mouse chromosome 6 and is a candidate gene for embryonic lethality associated with uniparental maternal inheritance of this region.Zac1 maps to the proximal region of chromosome 10, identifying a new imprinted locus in the mouse, homologous with human chromosome 6q24-q25. In humans, unipaternal disomy for this region is associated with fetal growth retardation and transient neonatal diabetes mellitus. In addition, loss of expression of ZAChas been described for a number of breast and ovarian carcinomas, suggesting that ZAC is a potential tumor suppressor gene.

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4

Ahn, Jinsoo, In-Sul Hwang, Mi-Ryung Park, In-Cheol Cho, Seongsoo Hwang y Kichoon Lee. "The Landscape of Genomic Imprinting at the Porcine SGCE/PEG10 Locus from Methylome and Transcriptome of Parthenogenetic Embryos". G3: Genes|Genomes|Genetics 10, n.º 11 (2 de septiembre de 2020): 4037–47. http://dx.doi.org/10.1534/g3.120.401425.

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In mammals, imprinted genes often exist in the form of clusters in specific chromosome regions. However, in pigs, genomic imprinting of a relatively few genes and clusters has been identified, and genes within or adjacent to putative imprinted clusters need to be investigated including those at the SGCE/PEG10 locus. The objective of this study was to, using porcine parthenogenetic embryos, investigate imprinting status of genes within the genomic region spans between the COL1A2 and ASB4 genes in chromosome 9. Whole-genome bisulfite sequencing (WGBS) and RNA sequencing (RNA-seq) were conducted with normal and parthenogenetic embryos, and methylome and transcriptome were analyzed. As a result, differentially methylated regions (DMRs) between the embryos were identified, and parental allele-specific expressions of the SGCE and PEG10 genes were verified. The pig imprinted interval was limited between SGCE and PEG10, since both the COL1A2 and CASD1 genes at the centromere-proximal region and the genes between PPP1R9A and ASB4 toward the telomere were non-imprinted and biallelically expressed. Consequently, our combining analyses of methylome, transcriptome, and informative polymorphisms revealed the boundary of imprinting cluster at the SGCE/PEG10 locus in pig chromosome 9 and consolidated the landscape of genomic imprinting in pigs.

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5

Mishra, Varsha y Rachna Sehgal. "Hereditary myoclonus dystonia - rare entity diagnosed in younger children: report of a sporadic case with atypical features". International Journal of Contemporary Pediatrics 7, n.º 1 (24 de diciembre de 2019): 209. http://dx.doi.org/10.18203/2349-3291.ijcp20195755.

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Hereditary myoclonus dystonia is a rare movement disorder characterized with combination of myoclonic jerks with mild to moderate dystonia. Mostly caused due to changes in SGCE gene. Author report case of a 3 years old girl with atypical features of lower limb onset, mild dystonia, upper limb and neck myoclonic jerks and younger onset. She was detected to have pathogenic variant of SGCE gene. A diagnosis of myoclonus dystonia should be considered at an early age also like in our case so that treatment is initiated early for better results and improved quality of life and development.

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6

Wictorin, Klas y Andreas Puschmann. "Myoclonus-dystonia (DYT11, DYT-SGCE) — a channelopathy?" Neurologia i Neurochirurgia Polska 54, n.º 1 (29 de febrero de 2020): 3–5. http://dx.doi.org/10.5603/pjnns.a2020.0013.

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7

LeDoux, Mark S. "Population Prevalence of Deleterious SGCE Variants". Tremor and Other Hyperkinetic Movements 10 (4 de noviembre de 2020): 50. http://dx.doi.org/10.5334/tohm.567.

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8

Chawla, Geetanjali, Chia-Ho Lin, Areum Han, Lily Shiue, Manuel Ares y Douglas L. Black. "Sam68 Regulates a Set of Alternatively Spliced Exons during Neurogenesis". Molecular and Cellular Biology 29, n.º 1 (20 de octubre de 2008): 201–13. http://dx.doi.org/10.1128/mcb.01349-08.

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ABSTRACT Sam68 (Src-associated in mitosis, 68 kDa) is a KH domain RNA binding protein implicated in a variety of cellular processes, including alternative pre-mRNA splicing, but its functions are not well understood. Using RNA interference knockdown of Sam68 expression and splicing-sensitive microarrays, we identified a set of alternative exons whose splicing depends on Sam68. Detailed analysis of one newly identified target exon in epsilon sarcoglycan (Sgce) showed that both RNA elements distributed across the adjacent introns and the RNA binding activity of Sam68 are necessary to repress the Sgce exon. Sam68 protein is upregulated upon neuronal differentiation of P19 cells, and many Sam68 RNA targets change in expression and splicing during this process. When Sam68 is knocked down by short hairpin RNAs, many Sam68-dependent splicing changes do not occur and P19 cells fail to differentiate. We also found that the differentiation of primary neuronal progenitor cells from embryonic mouse neocortex is suppressed by Sam68 depletion and promoted by Sam68 overexpression. Thus, Sam68 controls neurogenesis through its effects on a specific set of RNA targets.

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9

Zhang, Jiajun y Tianshou Zhou. "Markovian approaches to modeling intracellular reaction processes with molecular memory". Proceedings of the National Academy of Sciences 116, n.º 47 (4 de noviembre de 2019): 23542–50. http://dx.doi.org/10.1073/pnas.1913926116.

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Many cellular processes are governed by stochastic reaction events. These events do not necessarily occur in single steps of individual molecules, and, conversely, each birth or death of a macromolecule (e.g., protein) could involve several small reaction steps, creating a memory between individual events and thus leading to nonmarkovian reaction kinetics. Characterizing this kinetics is challenging. Here, we develop a systematic approach for a general reaction network with arbitrary intrinsic waiting-time distributions, which includes the stationary generalized chemical-master equation (sgCME), the stationary generalized Fokker–Planck equation, and the generalized linear-noise approximation. The first formulation converts a nonmarkovian issue into a markovian one by introducing effective transition rates (that explicitly decode the effect of molecular memory) for the reactions in an equivalent reaction network with the same substrates but without molecular memory. Nonmarkovian features of the reaction kinetics can be revealed by solving the sgCME. The latter 2 formulations can be used in the fast evaluation of fluctuations. These formulations can have broad applications, and, in particular, they may help us discover new biological knowledge underlying memory effects. When they are applied to generalized stochastic models of gene-expression regulation, we find that molecular memory is in effect equivalent to a feedback and can induce bimodality, fine-tune the expression noise, and induce switch.

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10

Huang, Chia-Ling, Min-Yu Lan, Yung-Yee Chang, Chia-Yu Hsu, Szu-Chia Lai, Rou-Shayn Chen, Hsiu-Chen Chang, Chin-Song Lu y Yah-Huei Wu-Chou. "Large SGCE deletion contributes to Taiwanese myoclonus–dystonia syndrome". Parkinsonism & Related Disorders 16, n.º 9 (noviembre de 2010): 585–89. http://dx.doi.org/10.1016/j.parkreldis.2010.06.016.

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11

Vanegas, Maria I., Anna Marcé-Grau, Laura Martí-Sánchez, Sara Mellid, Heidy Baide-Mairena, Marta Correa-Vela, Anna Cazurro et al. "Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome". Parkinsonism & Related Disorders 80 (noviembre de 2020): 165–74. http://dx.doi.org/10.1016/j.parkreldis.2020.09.023.

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12

Peall, Kathryn J., Daniel J. Smith, Manju A. Kurian, Mark Wardle, Adrian J. Waite, Tammy Hedderly, Jean-Pierre Lin et al. "SGCE mutations cause psychiatric disorders: clinical and genetic characterization". Brain 136, n.º 1 (enero de 2013): 294–303. http://dx.doi.org/10.1093/brain/aws308.

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13

Zhao, Lina, Ting Qiu, Dewei Jiang, Haibo Xu, Li Zou, Qin Yang, Ceshi Chen y Baowei Jiao. "SGCE Promotes Breast Cancer Stem Cells by Stabilizing EGFR". Advanced Science 7, n.º 14 (8 de junio de 2020): 1903700. http://dx.doi.org/10.1002/advs.201903700.

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14

Peall, Kathryn J., Joke M. Dijk, Rachel Saunders‐Pullman, Yasmine E. M. Dreissen, Ilke Loon, Danielle Cath, Manju A. Kurian et al. "Psychiatric disorders, myoclonus dystonia and SGCE : an international study". Annals of Clinical and Translational Neurology 3, n.º 1 (20 de noviembre de 2015): 4–11. http://dx.doi.org/10.1002/acn3.263.

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15

Roze, E., E. Apartis, F. Clot, N. Dorison, S. Thobois, L. Guyant-Marechal, C. Tranchant et al. "Myoclonus-dystonia: Clinical and electrophysiologic pattern related to SGCE mutations". Neurology 70, n.º 13 (24 de marzo de 2008): 1010–16. http://dx.doi.org/10.1212/01.wnl.0000297516.98574.c0.

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16

Gutiérrez Pérez, Ángel Alonso, Ernesto Lleras y Julia Díaz. "Comunidades de Aprendizaje como apoyo a un Sistema de Gestión del Conocimiento y la Innovación. Un estudio de Caso". International Journal of Engineering, Social Justice, and Peace 6, n.º 1 (10 de febrero de 2019): 7–25. http://dx.doi.org/10.24908/ijesjp.v6i1.12675.

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En el este artículo presentamos un estudio de caso donde se usa el enfoque de Comunidades de Aprendizaje (CA) para propiciar un espacio de innovación dentro de una organización. En el caso se busca fortalecer el Sistema de Gestión del Conocimiento y la Innovación (SGCI) de una empresa de servicios públicos, estableciendo relaciones de aprendizaje entre los trabajadores. Es estas relaciones de aprendizaje las personas asumen roles diferenciados (de mentores o aprendices) y pueden desarrollar capacidades que les permiten proponer nuevas prácticas a la empresa.

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17

Koide, Noriko, Sumito Dateki, Kiyoko Watanabe y Hiroyuki Moriuchi. "Novel SGCE mutation (p.Glu65*) in a Japanese family with myoclonus-dystonia". Pediatrics International 59, n.º 9 (14 de julio de 2017): 1018–20. http://dx.doi.org/10.1111/ped.13335.

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18

Salamon, András, Dénes Zádori, Emese Horváth, László Vécsei y Péter Klivényi. "Zonisamidkezelés myoclonusdystoniában". Orvosi Hetilap 160, n.º 34 (agosto de 2019): 1353–57. http://dx.doi.org/10.1556/650.2019.31472.

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Abstract: Myoclonus-dystonia (DYT11) is a rare, autosomal dominant hereditary disorder clinically characterized by myoclonus and/or dystonia. The disease is most commonly caused by the mutations of the SGCE gene. Causative therapy is not available currently. Regarding symptomatic treatment, zonisamide, insulin therapy, carbamazepine and zolpidem may be utilized. If these drugs are not effective, bilateral globus pallidus internus deep brain stimulation may come into consideration. The aim of this study is to demonstrate the efficacy of zonisamide treatment in a Hungarian patient with genetically proven myoclonus-dystonia. Our 25-year-old female patient has had jerky, lightning-like movements since her childhood, mainly localized to her right upper limb. In addition, muscle cramps associated with writing and walking were also present. The symptoms were reduced by alcohol consumption. Brain MRI did not show any abnormality. Neurophysiological studies raised the possibility of subcortical myoclonus. After detailed phenotyping, genetic testing was performed, yielding the diagnosis of myoclonus-dystonia. A heterozygous mutation in the 6th exon of the SGCE gene at the position 709, resulting in an early stop codon (c.709C> T, p.Arg237*) was demonstrated. After considering the risk-benefit ratio, we decided to start zonisamide treatment. The dose was titrated gradually to 300 mg/d over 6 weeks. Myoclonus- and dystonia-specific tests demonstrated significant improvement compared to the pre-treatment status. The aim of this case report is to draw attention to this rare condition, its treatment and the importance of collaboration between medical subspecialties. Orv Hetil. 2019; 160(34): 1353–1357.

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19

Rachad, Laila, Hicham El Otmani, Adnane Karkar, Bouchra El Moutawakil, Nadia El Kadmiri y Sellama Nadifi. "Screening for SGCE mutations in Moroccan sporadic patients with Myoclonus-Dystonia syndrome". Neuroscience Letters 703 (junio de 2019): 1–4. http://dx.doi.org/10.1016/j.neulet.2019.03.003.

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20

Hess, C. W., D. Raymond, P. d. C. Aguiar, S. Frucht, J. Shriberg, G. A. Heiman, R. Kurlan et al. "Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers". Neurology 68, n.º 7 (12 de febrero de 2007): 522–24. http://dx.doi.org/10.1212/01.wnl.0000253188.76092.06.

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21

Delgado-Alvarado, Manuel, Antoni Matilla-Dueñas, Antonio Altadill-Bermejo, Sonia Setién, Mercedes Misiego-Peral, José Ramón Sánchez-de la Torre, Marc Corral-Juan y Javier Riancho. "A novel SGCE variant is associated with myoclonus-dystonia with phenotypic variability". Neurological Sciences 41, n.º 12 (21 de septiembre de 2020): 3779–81. http://dx.doi.org/10.1007/s10072-020-04718-6.

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22

Rachad, Laila, Hicham El Otmani y Sellama Nadifi. "Screening for SGCE mutations in Moroccan sporadic patients with Myoclonus-Dystonia syndrome". IBRO Reports 6 (septiembre de 2019): S483—S484. http://dx.doi.org/10.1016/j.ibror.2019.07.1519.

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23

Kurtis, Monica M., Marta San Luciano, Qiping Yu, Robert R. Goodman, Blair Ford, Deborah Raymond, Seth L. Pullman y Rachel Saunders-Pullman. "Clinical and neurophysiological improvement of SGCE myoclonus–dystonia with GPi deep brain stimulation". Clinical Neurology and Neurosurgery 112, n.º 2 (febrero de 2010): 149–52. http://dx.doi.org/10.1016/j.clineuro.2009.10.001.

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24

Bonello, M., A. J. Larner y S. H. Alusi. "Myoclonus-dystonia (DYT11) with novel SGCE mutation misdiagnosed as a primary psychiatric disorder". Journal of the Neurological Sciences 346, n.º 1-2 (noviembre de 2014): 356–57. http://dx.doi.org/10.1016/j.jns.2014.08.043.

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25

Ritz, Katja, Barbera DC van Schaik, Marja E. Jakobs, Antoine H. van Kampen, Eleonora Aronica, Marina A. Tijssen y Frank Baas. "SGCE isoform characterization and expression in human brain: implications for myoclonus–dystonia pathogenesis?" European Journal of Human Genetics 19, n.º 4 (15 de diciembre de 2010): 438–44. http://dx.doi.org/10.1038/ejhg.2010.206.

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26

Wong, Sui H., Malcolm J. Steiger, Andrew J. Larner y Nicholas A. Fletcher. "Hereditary myoclonus dystonia (DYT11): A novel SGCE gene mutation with intrafamilial phenotypic heterogeneity". Movement Disorders 25, n.º 7 (10 de marzo de 2010): 956–57. http://dx.doi.org/10.1002/mds.23037.

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27

De Carvalho Aguiar, Patricia, Melissa Fazzari, Joseph Jankovic y Laurie J. Ozelius. "Examination of the SGCE gene in Tourette syndrome patients with obsessive-compulsive disorder". Movement Disorders 19, n.º 10 (2004): 1237–38. http://dx.doi.org/10.1002/mds.20156.

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28

Grabowski, Monika, Alexander Zimprich, Bettina Lorenz-Depiereux, Vera Kalscheuer, Friedrich Asmus, Thomas Gasser, Thomas Meitinger y Tim M. Strom. "The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted". European Journal of Human Genetics 11, n.º 2 (febrero de 2003): 138–44. http://dx.doi.org/10.1038/sj.ejhg.5200938.

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29

Peall, Kathryn J., Manju A. Kurian, Mark Wardle, Adrian J. Waite, Tammy Hedderly, Jean-Pierre Lin, Martin Smith et al. "SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype". Journal of Neurology 261, n.º 12 (11 de septiembre de 2014): 2296–304. http://dx.doi.org/10.1007/s00415-014-7488-3.

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Masuku, Mzenzi S., O. I. Oloyede y Victoria L. Kelly. "TEACHERS’ USE OF INFORMAL FORMATIVE ASSESSMENT IN SENIOR SECONDARY SCHOOL CHEMISTRY CLASSROOMS IN SWAZILAND". International Journal of Research -GRANTHAALAYAH 7, n.º 1 (31 de enero de 2019): 348–60. http://dx.doi.org/10.29121/granthaalayah.v7.i1.2019.1062.

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The social-economic role of education as a major driver of human development calls for quality education that is rooted on effective teaching and learning. While Swaziland aspires to have products of her secondary education system efficiently joining tertiary training or the workplace, the SGCSE performance trend in Physical Science currently features below expectation. This study explored how teachers in Swaziland used informal formative assessment in their senior secondary school Chemistry lessons. Three purposively sampled lessons from Form 4 and Form 5 were observed. Data were collected through field notes and analysed using inductive content analysis. Findings showed that teachers used informal formative assessment by explaining misunderstood content in fresh ways, giving learners remedial work, initiating hand-clapping, repeating or adjusting initial and probing questions. All in all, teachers used informal formative assessment in line with standard practices though they often resorted to telling learners answers to seemingly demanding questions.

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31

Yokoi, Fumiaki, Guang Yang, JinDong Li, Mark P. DeAndrade, Tong Zhou y Yuqing Li. "Earlier onset of motor deficits in mice with double mutations in Dyt1 and Sgce". Journal of Biochemistry 148, n.º 4 (13 de julio de 2010): 459–66. http://dx.doi.org/10.1093/jb/mvq078.

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32

Coughlin, David G., Tanya M. Bardakjian, Meredith Spindler y Andres Deik. "Hereditary Myoclonus Dystonia: A Novel SGCE Variant and Phenotype Including Intellectual Disability". Tremor and Other Hyperkinetic Movements 8 (28 de marzo de 2018): 547. http://dx.doi.org/10.5334/tohm.412.

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33

Peall, K., D. Smith, M. Kurian, M. Wardle, A. Waite, T. Hedderly, J. Lin et al. "ARE PSYCHIATRIC SYMPTOMS A CORE PHENOTYPE OF MYOCLONUS DYSTONIA SYNDROME CAUSED BY SGCE MUTATIONS?" Journal of Neurology, Neurosurgery & Psychiatry 84, n.º 9 (6 de agosto de 2013): e1-e1. http://dx.doi.org/10.1136/jnnp-2013-306103.24.

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34

Rachad, Laila, Hicham El Otmani, Adnane Karkar, Nadia El Kadmiri y Sellama Nadifi. "A novel SGCE gene mutation in a Moroccan sporadic case with myoclonus-dystonia syndrome". Gene Reports 11 (junio de 2018): 121–23. http://dx.doi.org/10.1016/j.genrep.2018.03.005.

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35

Vavro, Jan, Ján Vavro, Petra Kováčiková, Peter Kopas, Marián Handrik y Radka Bezdedová. "Numerical Analysis of Stress States for Graphitic Cast Iron Structures". Applied Mechanics and Materials 611 (agosto de 2014): 252–55. http://dx.doi.org/10.4028/www.scientific.net/amm.611.252.

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The presented work is focused on the analysis of stress distribution around the graphitic particles in microstructure of ductile cast iron with the spheroidal shape of graphite (SGCI) and grey cast iron with the lamellar shape of graphite (LGCI). The analysis was made with help of the finite element method in the software system ADINA.v.8.6.2. On the basis of the real structure, the finite element method was used for creation of the model which was subsequently used for calculation of the distribution of stress in the material structure. The input data for numerical analysis were obtained on the basis of evaluation of the structure with help of image analysis. The numerical analysis proved that graphitic particles in the matrix cause the accumulation of stress and the distribution of given stress depends on the shape of the graphitic particles.

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36

Vavro, Jan, Ján Vavro y Petra Kováčiková. "Distribution of Stress around the Graphitic Particles in Cast Iron Microstructure". Applied Mechanics and Materials 486 (diciembre de 2013): 20–25. http://dx.doi.org/10.4028/www.scientific.net/amm.486.20.

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The given work is focused on the analysis of the distribution of stress around graphitic particles in microstructure of the ductile cast iron with the spheroidal shape of graphite (SGCI) and grey cast iron with the lamellar shape of graphite (LGCI). The analysis was made with help of finite element method in the software system ADINA.v.8.6.2. On the basis of the real structure, the finite element method was used for creation of the model which was subsequently used for calculation of the distribution of stress in the material structure. The input data for numerical analysis were obtained on the basis of evaluation of the structure by help of image analysis. The numerical analysis proved that the graphitic particles in the matrix cause the accumulation of the stress and the distribution of the given stress depends on the shape of the graphitic particles.

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Karpov, Andrey, Ravil Takhauov, Andrey Zerenkov, Yuriy Dolgopolov, Konstantin Izmestev, Aleksey Blinov y Lydia Zablotska. "Descriptive characteristics of the cohort of workers from the Siberian Group of Chemical Enterprises (SGCE)". BIO Web of Conferences 14 (2019): 04012. http://dx.doi.org/10.1051/bioconf/20191404012.

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Xiao, Jianfeng, Satya R. Vemula, Yi Xue, Mohammad M. Khan, Francesca A. Carlisle, Adrian J. Waite, Derek J. Blake, Ioannis Dragatsis, Yu Zhao y Mark S. LeDoux. "Role of major and brain-specific Sgce isoforms in the pathogenesis of myoclonus-dystonia syndrome". Neurobiology of Disease 98 (febrero de 2017): 52–65. http://dx.doi.org/10.1016/j.nbd.2016.11.003.

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39

Tedroff, Kristina, Arndt Rolfs y Andreas Norling. "A novel SGCE gene mutation causing myoclonus dystonia in a family with an unusual phenotype". Acta Paediatrica 101, n.º 2 (17 de noviembre de 2011): e90-e92. http://dx.doi.org/10.1111/j.1651-2227.2011.02502.x.

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40

Hartmann, Christian Johannes, Barbara Leube, Lars Wojtecki, Beate Betz, Stefan Jun Groiss, Peter Bauer, Alfons Schnitzler y Martin Südmeyer. "A novel mutation of the SGCE-gene in a German family with myoclonus-dystonia syndrome". Journal of Neurology 258, n.º 6 (26 de enero de 2011): 1186–88. http://dx.doi.org/10.1007/s00415-011-5911-6.

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41

Candela, Santiago, María Isabel Vanegas, Alejandra Darling, Juan Darío Ortigoza-Escobar, Mariana Alamar, Jordi Muchart, Alejandra Climent, Enrique Ferrer, Jordi Rumià y Belén Pérez-Dueñas. "Frameless robot-assisted pallidal deep brain stimulation surgery in pediatric patients with movement disorders: precision and short-term clinical results". Journal of Neurosurgery: Pediatrics 22, n.º 4 (octubre de 2018): 416–25. http://dx.doi.org/10.3171/2018.5.peds1814.

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OBJECTIVEThe purpose of this study was to verify the safety and accuracy of the Neuromate stereotactic robot for use in deep brain stimulation (DBS) electrode implantation for the treatment of hyperkinetic movement disorders in childhood and describe the authors’ initial clinical results.METHODSA prospective evaluation of pediatric patients with dystonia and other hyperkinetic movement disorders was carried out during the 1st year after the start-up of a pediatric DBS unit in Barcelona. Electrodes were implanted bilaterally in the globus pallidus internus (GPi) using the Neuromate robot without the stereotactic frame. The authors calculated the distances between the electrodes and their respective planned trajectories, merging the postoperative CT with the preoperative plan using VoXim software. Clinical outcome was monitored using validated scales for dystonia and myoclonus preoperatively and at 1 month and 6 months postoperatively and by means of a quality-of-life questionnaire for children, administered before surgery and at 6 months’ follow-up. We also recorded complications derived from the implantation technique, “hardware,” and stimulation.RESULTSSix patients aged 7 to 16 years and diagnosed with isolated dystonia (DYT1 negative) (3 patients), choreo-dystonia related to PDE2A mutation (1 patient), or myoclonus-dystonia syndrome SGCE mutations (2 patients) were evaluated during a period of 6 to 19 months. The average accuracy in the placement of the electrodes was 1.24 mm at the target point. At the 6-month follow-up, patients showed an improvement in the motor (65%) and functional (48%) components of the Burke-Fahn-Marsden Dystonia Rating Scale. Patients with myoclonus and SGCE mutations also showed an improvement in action myoclonus (95%–100%) and in functional tests (50%–75%) according to the Unified Motor-Rating Scale. The Neuro-QOL score revealed inconsistent results, with improvement in motor function and social relationships but worsening in anxiety, cognitive function, and pain. The only surgical complication was medial displacement of the first electrode, which limited intensity of stimulation in the lower contacts, in one case.CONCLUSIONSThe Neuromate stereotactic robot is an accurate and safe tool for the placement of GPi electrodes in children with hyperkinetic movement disorders.

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Kim, Ji-Young, Woong-Woo Lee, Chae Won Shin, Han-Joon Kim, Sung-Sup Park, Sun Ju Chung, Jin Whan Cho, Ho-Sung Ryu, Tae Ok Son y Beomseok Jeon. "Psychiatric symptoms in myoclonus-dystonia syndrome are just concomitant features regardless of the SGCE gene mutation". Parkinsonism & Related Disorders 42 (septiembre de 2017): 73–77. http://dx.doi.org/10.1016/j.parkreldis.2017.06.014.

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Thümmler, Susanne, Fabienne Giuliano, Olivier Pincemaille, Pascale Saugier-Veber y Serge Perelman. "Myoclonus in fraternal twin toddlers: A French family with a novel mutation in the SGCE gene". European Journal of Paediatric Neurology 13, n.º 6 (noviembre de 2009): 559–61. http://dx.doi.org/10.1016/j.ejpn.2008.11.009.

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Kübler, Dorothee, Friederike Borngräber, Katja Lohmann y Andrea A. Kühn. "Novel SGCE mutation in a patient with myoclonus-dystonia syndrome – Diagnostic delay of more than 40 years". Journal of Clinical Neuroscience 50 (abril de 2018): 131–32. http://dx.doi.org/10.1016/j.jocn.2018.01.055.

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45

Mencacci, Niccolò E. y Norbert Brüggemann. "KCTD17 is a confirmed new gene for dystonia, but is it responsible for SGCE-negative myoclonus-dystonia?" Parkinsonism & Related Disorders 61 (abril de 2019): 1–3. http://dx.doi.org/10.1016/j.parkreldis.2019.03.006.

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46

Szubiga, Michał, Monika Rudzińska, Mirosław Bik-Multanowski, Jacek J. Pietrzyk y Andrzej Szczudlik. "A novel conserved mutation in SGCE gene in 3 unrelated patients with classical phenotype myoclonus–dystonia syndrome". Neurological Research 35, n.º 6 (julio de 2013): 659–62. http://dx.doi.org/10.1179/1743132812y.0000000146.

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47

Carecchio, Miryam, Monia Magliozzi, Massimiliano Copetti, Alessandro Ferraris, Laura Bernardini, Monica Bonetti, Giovanni Defazio et al. "Defining the Epsilon-Sarcoglycan (SGCE) Gene Phenotypic Signature in Myoclonus-Dystonia: A Reappraisal of Genetic Testing Criteria". Movement Disorders 28, n.º 6 (15 de mayo de 2013): 787–94. http://dx.doi.org/10.1002/mds.25506.

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Gultekin, Murat, Neha Prakash, Christos Ganos, Meral Mirza, Ruslan Bayramov, Kailash P. Bhatia y Niccolò E. Mencacci. "A Novel SGCE Nonsense Variant Associated With Marked Intrafamilial Variability in a Turkish Family With Myoclonus‐Dystonia". Movement Disorders Clinical Practice 6, n.º 6 (julio de 2019): 479–82. http://dx.doi.org/10.1002/mdc3.12805.

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Smallwood, Alan, Aris Papageorghiou, Kypros Nicolaides, M. K. R. Alley, Alice Jim, Geeta Nargund, Kamal Ojha, Stuart Campbell y Subhasis Banerjee. "Temporal Regulation of the Expression of Syncytin (HERV-W), Maternally Imprinted PEG10, and SGCE in Human Placenta1". Biology of Reproduction 69, n.º 1 (1 de julio de 2003): 286–93. http://dx.doi.org/10.1095/biolreprod.102.013078.

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Lohmann, K., S. Paus, E. Lohmann, T. Gasser, C. Ganos, C. Klein y N. Brüggemann. "Genetisch determinierte Dystonien". Nervenheilkunde 37, n.º 03 (febrero de 2018): 159–66. http://dx.doi.org/10.1055/s-0038-1642090.

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ZusammenfassungDystonien sind durch anhaltende oder intermittierende Muskelkontraktionen gekennzeichnet, die zu abnormen, häufig repetitiven Bewegungen verschiedener Körperteile führen. Die Einteilung der Dystonien erfolgt nach klinischen und ätiologischen Kriterien, wobei insbesondere die Genetik durch die Identifikation neuer, mit der Krankheit assoziierter Gene an Bedeutung gewonnen hat.Innerhalb des Krankheitsbildes der Dystonie können folgende Formen voneinander unterschieden werden: bei den isolierten Formen bestehen keine über die Dystonie hinausgehenden Zeichen oder Symptome; kombinierte Dystonien zeichnen sich durch eine Kombination von Dystonie und anderen Bewegungsstörungen wie Parkinsonismus, Chorea und Myoklonien aus und bei den komplexen Dystonien finden sich weitere neurologische und nicht-neurologische Manifestationen. Mutationen in den folgenden Genen sind mittlerweile als etablierte Ursachen für isolierte oder kombinierte erbliche Dystonie identifiziert worden: Tor1A, THAP1, GNAL, ANO3, KMT2B, GCH1, TAF1, PRKRA, ATP1A3, SGCE und ADCY5; > 100 Gene stehen im Zusammenhang mit komplexen Dystonien. Viele, insbesondere auch einige genetisch bedingte Formen der Dystonien, sprechen auf die Therapieoption der tiefen Hirnstimulation gut an. Aktuell arbeiten Forschungsnetzwerke daran, die Diagnostik und Therapie der Dystonien weiter zu verbessern.

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