These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

164 related articles for article (PubMed ID: 15079037)

  • 1. Myoclonus-dystonia: detection of novel, recurrent, and de novo SGCE mutations.
    Hedrich K; Meyer EM; Schüle B; Kock N; de Carvalho Aguiar P; Wiegers K; Koelman JH; Garrels J; Dürr R; Liu L; Schwinger E; Ozelius LJ; Landwehrmeyer B; Stoessl AJ; Tijssen MA; Klein C
    Neurology; 2004 Apr; 62(7):1229-31. PubMed ID: 15079037
    [No Abstract]   [Full Text] [Related]  

  • 2. Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype.
    Asmus F; Zimprich A; Tezenas Du Montcel S; Kabus C; Deuschl G; Kupsch A; Ziemann U; Castro M; Kühn AA; Strom TM; Vidailhet M; Bhatia KP; Dürr A; Wood NW; Brice A; Gasser T
    Ann Neurol; 2002 Oct; 52(4):489-92. PubMed ID: 12325078
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia.
    Müller B; Hedrich K; Kock N; Dragasevic N; Svetel M; Garrels J; Landt O; Nitschke M; Pramstaller PP; Reik W; Schwinger E; Sperner J; Ozelius L; Kostic V; Klein C
    Am J Hum Genet; 2002 Dec; 71(6):1303-11. PubMed ID: 12444570
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Severe myoclonus-dystonia syndrome associated with a novel epsilon-sarcoglycan gene truncating mutation.
    Maréchal L; Raux G; Dumanchin C; Lefebvre G; Deslandre E; Girard C; Campion D; Parain D; Frebourg T; Hannequin D
    Am J Med Genet B Neuropsychiatr Genet; 2003 May; 119B(1):114-7. PubMed ID: 12707948
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Mutations in the epsilon-sarcoglycan gene found to be uncommon in seven myoclonus-dystonia families.
    Han F; Lang AE; Racacho L; Bulman DE; Grimes DA
    Neurology; 2003 Jul; 61(2):244-6. PubMed ID: 12874409
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A novel mutation in the epsilon-sarcoglycan gene causing myoclonus-dystonia syndrome.
    Hjermind LE; Werdelin LM; Eiberg H; Krag-Olsen B; Dupont E; Sørensen SA
    Neurology; 2003 May; 60(9):1536-9. PubMed ID: 12743249
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Clinical and genetic features of myoclonus-dystonia in 3 cases: a video presentation.
    Kock N; Kasten M; Schüle B; Hedrich K; Wiegers K; Kabakci K; Hagenah J; Pramstaller PP; Nitschke MF; Münchau A; Sperner J; Klein C
    Mov Disord; 2004 Feb; 19(2):231-4. PubMed ID: 14978685
    [TBL] [Abstract][Full Text] [Related]  

  • 10. The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted.
    Grabowski M; Zimprich A; Lorenz-Depiereux B; Kalscheuer V; Asmus F; Gasser T; Meitinger T; Strom TM
    Eur J Hum Genet; 2003 Feb; 11(2):138-44. PubMed ID: 12634861
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Clinical findings of a myoclonus-dystonia family with two distinct mutations.
    Doheny D; Danisi F; Smith C; Morrison C; Velickovic M; De Leon D; Bressman SB; Leung J; Ozelius L; Klein C; Breakefield XO; Brin MF; Silverman JM
    Neurology; 2002 Oct; 59(8):1244-6. PubMed ID: 12391355
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene.
    Asmus F; Salih F; Hjermind LE; Ostergaard K; Munz M; Kühn AA; Dupont E; Kupsch A; Gasser T
    Ann Neurol; 2005 Nov; 58(5):792-7. PubMed ID: 16240355
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Hereditary myoclonus-dystonia associated with epilepsy.
    Foncke EM; Klein C; Koelman JH; Kramer PL; Schilling K; Müller B; Garrels J; de Carvalho Aguiar P; Liu L; de Froe A; Speelman JD; Ozelius LJ; Tijssen MA
    Neurology; 2003 Jun; 60(12):1988-90. PubMed ID: 12821748
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations.
    Klein C; Liu L; Doheny D; Kock N; Müller B; de Carvalho Aguiar P; Leung J; de Leon D; Bressman SB; Silverman J; Smith C; Danisi F; Morrison C; Walker RH; Velickovic M; Schwinger E; Kramer PL; Breakefield XO; Brin MF; Ozelius LJ
    Ann Neurol; 2002 Nov; 52(5):675-9. PubMed ID: 12402271
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Delayed Diagnoses of
    Varga MG; Nand NP; LeDoux MS
    Tremor Other Hyperkinet Mov (N Y); 2020 Jul; 10():23. PubMed ID: 32775037
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Clinical differentiation of genetically proven benign hereditary chorea and myoclonus-dystonia.
    Asmus F; Devlin A; Munz M; Zimprich A; Gasser T; Chinnery PF
    Mov Disord; 2007 Oct; 22(14):2104-9. PubMed ID: 17702043
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.