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 *

140 related articles for article (PubMed ID: 30642807)

  • 1. Childhood onset progressive myoclonic dystonia due to a de novo KCTD17 splicing mutation.
    Marcé-Grau A; Correa M; Vanegas MI; Muñoz-Ruiz T; Ferrer-Aparicio S; Baide H; Macaya A; Pérez-Dueñas B
    Parkinsonism Relat Disord; 2019 Apr; 61():7-9. PubMed ID: 30642807
    [No Abstract]   [Full Text] [Related]  

  • 2. A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia.
    Mencacci NE; Rubio-Agusti I; Zdebik A; Asmus F; Ludtmann MH; Ryten M; Plagnol V; Hauser AK; Bandres-Ciga S; Bettencourt C; Forabosco P; Hughes D; Soutar MM; Peall K; Morris HR; Trabzuni D; Tekman M; Stanescu HC; Kleta R; Carecchio M; Zorzi G; Nardocci N; Garavaglia B; Lohmann E; Weissbach A; Klein C; Hardy J; Pittman AM; Foltynie T; Abramov AY; Gasser T; Bhatia KP; Wood NW
    Am J Hum Genet; 2015 Jun; 96(6):938-47. PubMed ID: 25983243
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A novel KCTD17 mutation is associated with childhood early-onset hyperkinetic movement disorder.
    Graziola F; Stregapede F; Travaglini L; Garone G; Verardo M; Bosco L; Pro S; Bertini E; Curatolo P; Vigevano F; Capuano A
    Parkinsonism Relat Disord; 2019 Apr; 61():4-6. PubMed ID: 30579817
    [No Abstract]   [Full Text] [Related]  

  • 4. KCTD17-related myoclonus-dystonia syndrome: clinical and electrophysiological findings of a patient with atypical late onset.
    Todisco M; Gana S; Cosentino G; Errichiello E; Arceri S; Avenali M; Valente EM; Alfonsi E
    Parkinsonism Relat Disord; 2020 Sep; 78():129-133. PubMed ID: 32823241
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Childhood onset myoclonus-dystonia associated with a novel KCTD17 variant in an Indian patient.
    Garg D; Kapoor H; Ahmad I; Aroosa M; Agarwal A; Srivastava AK; Faruq M
    Parkinsonism Relat Disord; 2023 Dec; 117():105925. PubMed ID: 37944475
    [No Abstract]   [Full Text] [Related]  

  • 6. KCTD17 is a confirmed new gene for dystonia, but is it responsible for SGCE-negative myoclonus-dystonia?
    Mencacci NE; Brüggemann N
    Parkinsonism Relat Disord; 2019 Apr; 61():1-3. PubMed ID: 30894301
    [No Abstract]   [Full Text] [Related]  

  • 7. [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]  

  • 8. The epsilon-sarcoglycan gene in myoclonic syndromes.
    Valente EM; Edwards MJ; Mir P; DiGiorgio A; Salvi S; Davis M; Russo N; Bozi M; Kim HT; Pennisi G; Quinn N; Dallapiccola B; Bhatia KP
    Neurology; 2005 Feb; 64(4):737-9. PubMed ID: 15728306
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Hereditary Myoclonus Dystonia: A Novel
    Coughlin DG; Bardakjian TM; Spindler M; Deik A
    Tremor Other Hyperkinet Mov (N Y); 2018; 8():547. PubMed ID: 29607243
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. Late adulthood onset DYT-THAP1 secondary to a novel splice site mutation-A report from India.
    Holla VV; Prasad S; Neeraja K; Kamble N; Yadav R; Pal PK
    Parkinsonism Relat Disord; 2020 Sep; 78():36-37. PubMed ID: 32683277
    [No Abstract]   [Full Text] [Related]  

  • 13. Myoclonus-dystonia syndrome.
    Nardocci N
    Handb Clin Neurol; 2011; 100():563-75. PubMed ID: 21496608
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Disorganized sensorimotor integration in mutation-positive myoclonus-dystonia: a functional magnetic resonance imaging study.
    Beukers RJ; Foncke EM; van der Meer JN; Nederveen AJ; de Ruiter MB; Bour LJ; Veltman DJ; Tijssen MA
    Arch Neurol; 2010 Apr; 67(4):469-74. PubMed ID: 20385914
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A South African family with myoclonus-dystonia syndrome with a novel mutation in the SGCE gene responding to deep brain stimulation.
    van Coller R; Bardien S; Neethling A; Carr J; Schutte C
    Parkinsonism Relat Disord; 2019 Nov; 68():63-64. PubMed ID: 31621622
    [No Abstract]   [Full Text] [Related]  

  • 16. The neurophysiological features of myoclonus-dystonia and differentiation from other dystonias.
    Popa T; Milani P; Richard A; Hubsch C; Brochard V; Tranchant C; Sadnicka A; Rothwell J; Vidailhet M; Meunier S; Roze E
    JAMA Neurol; 2014 May; 71(5):612-9. PubMed ID: 24638021
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Deep brain stimulation in myoclonus-dystonia syndrome.
    Cif L; Valente EM; Hemm S; Coubes C; Vayssiere N; Serrat S; Di Giorgio A; Coubes P
    Mov Disord; 2004 Jun; 19(6):724-7. PubMed ID: 15197720
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Myoclonus-dystonia: An under-recognized entity - Report of 5 cases.
    Jain P; Sharma S; van Ruissen F; Aneja S
    Neurol India; 2016; 64(5):980-3. PubMed ID: 27625242
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.