REFERENCES:
- Asmus, F., Salih, F., Hjermind, L. E., Ostergaard, K., Munz, M., Kuhn,
A. A., Dupont, E., Kupsch, A., Gasser, T (2005) Myoclonus-dystonia due
to genomic deletions in the epsilon-sarcoglycan gene. Ann. Neurol. 58:
792-797.
- Asmus, F., Zimprich, A., Naumann, M., Berg, D., Bertram, M.,
Ceballos-Baumann, A., Pruszak-Seel, R., Kabus, C., Dichgans, M.,
Fuchs, S., Muller-Myhsok, B., Gasser, T. Inherited myoclonus-dystonia
syndrome: narrowing the 7q21-q31 locus in German families. Ann.
Neurol. 49: 121-124, 2001.
- Borges V, Aguiar Pde C, Ferraz HB, Ozelius LJ (2007) Novel and de novo
mutations of the SGCE gene in Brazilian patients with
myoclonus-dystonia. Movement disorders: official journal of the
Movement Disorder Society; 22(8): 1208–9.
- Chen XP, Zhang YW, Zhang SS, Chen Q, Burgunder JM, Wu SH, et al. .
(2008) A novel mutation of the epsilon-sarcoglycan gene in a Chinese
family with myoclonus-dystonia syndrome. Movement disorders: official
journal of the Movement Disorder Society; 23(10): 1472–5.
- Deborah Raymond , Rachel Saunders-Pullman, Laurie Ozelius , Margaret P
Adam, Holly H Ardinger, Roberta A Pagon, Stephanie E Wallace, Lora JH
Bean, Ghayda Mirzaa, Anne Amemiya (2003) SGCE Myoclonus-Dystonia , In:
GeneReviews® [Internet]. Seattle (WA): University of Washington,
Seattle.
- Esapa CT, Waite A, Locke M et al. (2007). SGCE missense mutations that
cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan
trafficking to the plasma membrane: modulation by ubiquitination and
torsina. Hum Mol Genet 16: 327–342.
- Fahn SL, Bressman SB, Marsden CD (1998). Classification of dystonia,
Adv Neurol ;78:1-10.
- Grabowski M, Zimprich A, Lorenz-Depiereux B et al. (2002). The epsilon
sarcoglycan (SGCE) mutated in myoclonus-dystonia syndrome is
maternally imprinted. Eur J Hum Genet 11: 138–144.
- Grimes DA, Han F, Lang AE et al. (2002). A novel locus for inherited
myoclonus-dystonia on 18p11. Neurology 59: 1183–1186
- Klein, C., Liu, L., Doheny, D., Kock, N., Muller, B., de Carvalho
Aguiar, P., Leung, J., de Leon, D., Bressman, S. B., Silverman, J., et
al. (2002) Epsilon-sarcoglycan mutations found in combination with
other dystonia gene mutations. Ann. Neurol. 52: 675-679.
- Klein C, Schilling K, Saunders-Pullman RJ et al. (2000). A major locus
for myoclonus-dystonia maps to chromosome 7q in eight families. Am J
Hum Genet 67: 1314–1319.
- Krieger E, Joo K, Lee J, et al (2009) Improving physical realism,
stereochemistry, and side-chain accuracy in homology modeling: Four
approaches that performed well in CASP8. Proteins 77 Suppl 9:114–122.
- Krieger E, Vriend G (2014) YASARA View - molecular graphics for all
devices - from smartphones to workstations. Bioinforma Oxf Engl
30:2981–2982.
- LeDoux, M. (2020) Population Prevalence of Deleterious SGCE Variants,
Tremor and Other Hyperkinetic Movements.; 10(1): 50, pp. 1–9.
- Misbahuddin A, Placzek M, Lennox G, Taanman JW, Warner TT (2007)
Myoclonis-dystonia syndrome whith severe depression is caused by
exon-skiping mutation in the epsilon sarcoglycan gene. Mov Disord.
15;22(8):1173-5.
- Müller B, Hedrich K, Kock N et al. (2002). Evidence that paternal
expression of the epsilon-sarcoglycan gene accounts for reduced
penetrance in MD . Am J Hum G 71: 1303-11.
- Nygaard TG, Raymond D, Chen C et al. (1999). Localization of a gene
for myoclonus-dystonia to chromosome 7q21- q31. Ann Neurol 46:
794–798.
- Pandurangan AP, Ochoa-Montaño B, Ascher DB, Blundell TL (2017) SDM: a
server for predicting effects of mutations on protein stability.
Nucleic Acids Res 45:W229–W235.
- Parthiban V, Gromiha MM, Schomburg D (2006) CUPSAT: prediction of
protein stability upon point mutations. Nucleic Acids Res 34:
W239-242.
- Peall KJ, Kurian MA, Wardle M, Waite AJ, Hedderly T, Lin JP, et al.
(2014): SGCE and myoclonus dystonia: motor characteristics, diagnostic
criteria and clinical predictors of genotype. Journal of neurology,
261(12): 2296–304.
- Pires DEV, Ascher DB, Blundell TL (2014) mCSM: predicting the effects
of mutations in proteins using graph-based signatures. Bioinformatics
30:335–342.
- Pires DEV, Ascher DB, Blundell TL (2014) DUET: a server for predicting
effects of mutations on protein stability using an integrated
computational approach. Nucleic Acids Res 42:W314–W319.
- Rachad
L, El
Otmani H, Karkar A, ElMoutawakil B, El
Kadmiri N , Nadifi S (2019) Screening for SGCE mutations in Moroccan
sporadic patients with Myoclonus-Dystonia syndrome, Neurosci Lett,
Jun 11;703:1-4.
- Raymond and Ozelius, in Adam MP, Ardinger HH, Pagon RA, Wallace SE,
Bean LJH, Stephens K, Amemiya A, editors. GeneReviews®[Internet].
Seattle (WA): University of Washington, Seattle; 2012
- Raymond D, Saunders-Pullman R, de Carvalho Aguiar P et al. (2008).
Phenotypic spectrum and sex effects in eleven myoclonus-dystonia
families with epsilon-sarcoglycan mutations. Mov Disord 23: 88–592.
- Vidailhet M, Tassin J, Durif F et al. (2001). A major locus for
several phenotypes of myoclonus – dystonia on chromosome 7q.
Neurology 56: 1213–1216.
- Yang J, Zhang Y (2015) I-TASSER server: new development for protein
structure and function predictions. Nucleic Acids Res 43:W174–W181.