377 related articles for article (PubMed ID: 26790671)
1. Genetic Aspects of Myoclonus-Dystonia Syndrome (MDS).
Rachad L; El Kadmiri N; Slassi I; El Otmani H; Nadifi S
Mol Neurobiol; 2017 Mar; 54(2):939-942. PubMed ID: 26790671
[TBL] [Abstract][Full Text] [Related]
2. Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes.
Tezenas du Montcel S; Clot F; Vidailhet M; Roze E; Damier P; Jedynak CP; Camuzat A; Lagueny A; Vercueil L; Doummar D; Guyant-Maréchal L; Houeto JL; Ponsot G; Thobois S; Cournelle MA; Durr A; Durif F; Echenne B; Hannequin D; Tranchant C; Brice A;
J Med Genet; 2006 May; 43(5):394-400. PubMed ID: 16227522
[TBL] [Abstract][Full Text] [Related]
3. 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
Neurol Res; 2013 Jul; 35(6):659-62. PubMed ID: 23561547
[TBL] [Abstract][Full Text] [Related]
4. Myoclonus-dystonia syndrome.
Nardocci N
Handb Clin Neurol; 2011; 100():563-75. PubMed ID: 21496608
[TBL] [Abstract][Full Text] [Related]
5. Genetic heterogeneity in ten families with myoclonus-dystonia.
Schüle B; Kock N; Svetel M; Dragasevic N; Hedrich K; De Carvalho Aguiar P; Liu L; Kabakci K; Garrels J; Meyer EM; Berisavac I; Schwinger E; Kramer PL; Ozelius LJ; Klein C; Kostic V
J Neurol Neurosurg Psychiatry; 2004 Aug; 75(8):1181-5. PubMed ID: 15258227
[TBL] [Abstract][Full Text] [Related]
6. 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
Neurosci Lett; 2019 Jun; 703():1-4. PubMed ID: 30849405
[TBL] [Abstract][Full Text] [Related]
7. Pediatric writer's cramp in myoclonus-dystonia: maternal imprinting hides positive family history.
Gerrits MC; Foncke EM; Koelman JH; Tijssen MA
Eur J Paediatr Neurol; 2009 Mar; 13(2):178-80. PubMed ID: 18571946
[TBL] [Abstract][Full Text] [Related]
8. Abnormal nuclear envelope in the cerebellar Purkinje cells and impaired motor learning in DYT11 myoclonus-dystonia mouse models.
Yokoi F; Dang MT; Yang G; Li J; Doroodchi A; Zhou T; Li Y
Behav Brain Res; 2012 Feb; 227(1):12-20. PubMed ID: 22040906
[TBL] [Abstract][Full Text] [Related]
9. Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome.
Zimprich A; Grabowski M; Asmus F; Naumann M; Berg D; Bertram M; Scheidtmann K; Kern P; Winkelmann J; Müller-Myhsok B; Riedel L; Bauer M; Müller T; Castro M; Meitinger T; Strom TM; Gasser T
Nat Genet; 2001 Sep; 29(1):66-9. PubMed ID: 11528394
[TBL] [Abstract][Full Text] [Related]
10. Gait Impairment in Myoclonus-Dystonia (DYT-
Haeri G; Shahidi G; Fasano A; Rohani M
Tremor Other Hyperkinet Mov (N Y); 2019; 9():. PubMed ID: 31413899
[TBL] [Abstract][Full Text] [Related]
11. 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
Mov Disord; 2013 Jun; 28(6):787-94. PubMed ID: 23677909
[TBL] [Abstract][Full Text] [Related]
12. Myoclonus-dystonia due to maternal uniparental disomy.
Guettard E; Portnoi MF; Lohmann-Hedrich K; Keren B; Rossignol S; Winkler S; El Kamel I; Leu S; Apartis E; Vidailhet M; Klein C; Roze E
Arch Neurol; 2008 Oct; 65(10):1380-5. PubMed ID: 18852357
[TBL] [Abstract][Full Text] [Related]
13. SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA.
Esapa CT; Waite A; Locke M; Benson MA; Kraus M; McIlhinney RA; Sillitoe RV; Beesley PW; Blake DJ
Hum Mol Genet; 2007 Feb; 16(3):327-42. PubMed ID: 17200151
[TBL] [Abstract][Full Text] [Related]
14. 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
J Neurol; 2014 Dec; 261(12):2296-304. PubMed ID: 25209853
[TBL] [Abstract][Full Text] [Related]
15. [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
Zhonghua Er Ke Za Zhi; 2020 Feb; 58(2):123-128. PubMed ID: 32102149
[No Abstract] [Full Text] [Related]
16. 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
Pediatr Int; 2015 Apr; 57(2):324-6. PubMed ID: 25868953
[TBL] [Abstract][Full Text] [Related]
17. Earlier onset of motor deficits in mice with double mutations in Dyt1 and Sgce.
Yokoi F; Yang G; Li J; DeAndrade MP; Zhou T; Li Y
J Biochem; 2010 Oct; 148(4):459-66. PubMed ID: 20627944
[TBL] [Abstract][Full Text] [Related]
18. Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity.
Valente EM; Misbahuddin A; Brancati F; Placzek MR; Garavaglia B; Salvi S; Nemeth A; Shaw-Smith C; Nardocci N; Bentivoglio AR; Berardelli A; Eleopra R; Dallapiccola B; Warner TT
Mov Disord; 2003 Sep; 18(9):1047-51. PubMed ID: 14502674
[TBL] [Abstract][Full Text] [Related]
19. Abnormal nuclear envelopes in the striatum and motor deficits in DYT11 myoclonus-dystonia mouse models.
Yokoi F; Dang MT; Zhou T; Li Y
Hum Mol Genet; 2012 Feb; 21(4):916-25. PubMed ID: 22080833
[TBL] [Abstract][Full Text] [Related]
20. Unusual familial presentation of epsilon-sarcoglycan gene mutation with falls and writer's cramp.
Koukouni V; Valente EM; Cordivari C; Bhatia KP; Quinn NP
Mov Disord; 2008 Oct; 23(13):1913-5. PubMed ID: 18702114
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
