BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

175 related articles for article (PubMed ID: 36521323)

  • 1. Dystonia with myoclonus and vertical supranuclear gaze palsy associated with a rare GNB1 variant.
    Reyes NGD; Di Luca DG; McNiven V; Lang AE
    Parkinsonism Relat Disord; 2023 Jan; 106():105239. PubMed ID: 36521323
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Myoclonus-dystonia caused by GNB1 mutation responsive to deep brain stimulation.
    Jones HF; Morales-Briceño H; Barwick K; Lewis J; Sanchis-Juan A; Raymond FL; Stewart K; Waugh MC; Mahant N; Kurian MA; Dale RC; Mohammad SS
    Mov Disord; 2019 Jul; 34(7):1079-1080. PubMed ID: 31034681
    [No Abstract]   [Full Text] [Related]  

  • 3. Homozygous SQSTM1 nonsense variant identified in a patient with brainstem involvement.
    Kilic MA; Kipoglu O; Coskun O; Karacabey BN; Yesilyurt A; Yildiz EP; Aydinli N; Caliskan MM
    Brain Dev; 2021 Nov; 43(10):1039-1043. PubMed ID: 34147300
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Novel De Novo KCND3 Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and Dystonia.
    Kurihara M; Ishiura H; Sasaki T; Otsuka J; Hayashi T; Terao Y; Matsukawa T; Mitsui J; Kaneko J; Nishiyama K; Doi K; Yoshimura J; Morishita S; Shimizu J; Tsuji S
    Cerebellum; 2018 Apr; 17(2):237-242. PubMed ID: 28895081
    [TBL] [Abstract][Full Text] [Related]  

  • 5. GNB1 Encephalopathy: Clinical Case Report and Literature Review.
    Nasvytis M; Čiauškaitė J; Jurkevičienė G
    Medicina (Kaunas); 2024 Apr; 60(4):. PubMed ID: 38674235
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Myoclonus and Dystonia as Recurrent Presenting Features in Patients with the SCA21-Associated
    Sorrentino U; Romito LM; Garavaglia B; Fichera M; Colangelo I; Prokisch H; Winkelmann J; Necpal J; Jech R; Zech M
    Tremor Other Hyperkinet Mov (N Y); 2024; 14():16. PubMed ID: 38617829
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [A case of juvenile onset ataxia with dystonia, myoclonus, sensorineural hearing loss and mental retardation].
    Koide R; Yoshimura N; Soma Y; Tsuji S
    Rinsho Shinkeigaku; 1993 Aug; 33(8):909-11. PubMed ID: 8261707
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [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]  

  • 9. Genetics of dystonia.
    Fuchs T; Ozelius LJ
    Semin Neurol; 2011 Nov; 31(5):441-8. PubMed ID: 22266882
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Deep brain stimulation effect in genetic dyskinetic cerebral palsy: The case of ADCY5- related disease.
    Cif L; Demailly D; Gehin C; Chan Seng E; Dornadic M; Huby S; Poulen G; Roubertie A; Villessot M; Roujeau T; Coubes P
    Mol Genet Metab; 2023 Jan; 138(1):106970. PubMed ID: 36610259
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Spectrum of Movement Disorders in Niemann-Pick Disease Type C.
    Devaraj R; Mahale RR; Sindhu DM; Stezin A; Kamble N; Holla VV; Netravathi M; Yadav R; Pal PK
    Tremor Other Hyperkinet Mov (N Y); 2022; 12():28. PubMed ID: 36187872
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. A novel SGCE variant is associated with myoclonus-dystonia with phenotypic variability.
    Delgado-Alvarado M; Matilla-Dueñas A; Altadill-Bermejo A; Setién S; Misiego-Peral M; Sánchez-de la Torre JR; Corral-Juan M; Riancho J
    Neurol Sci; 2020 Dec; 41(12):3779-3781. PubMed ID: 32955639
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Clinical features and genetic analysis of SGCE myoclonus-dystonia: A case report.
    Wu Q; Jiang Y; Lu J; Zhang Y
    Parkinsonism Relat Disord; 2022 Nov; 104():91-93. PubMed ID: 36274329
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Distal myoclonus and late onset in a large Dutch family with myoclonus-dystonia.
    Foncke EM; Gerrits MC; van Ruissen F; Baas F; Hedrich K; Tijssen CC; Klein C; Tijssen MA
    Neurology; 2006 Nov; 67(9):1677-80. PubMed ID: 17101905
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Evidence for progressive changes in clinical presentation of myoclonus-dystonia.
    Thobois S; Gervais-Bernard H; Xie-Brustolin J; Zyss J; Ostrowsky K; Broussolle E
    Mov Disord; 2007 Jul; 22(10):1516-1517. PubMed ID: 17486615
    [No Abstract]   [Full Text] [Related]  

  • 18. Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders.
    Montaut S; Tranchant C; Drouot N; Rudolf G; Guissart C; Tarabeux J; Stemmelen T; Velt A; Fourrage C; Nitschké P; Gerard B; Mandel JL; Koenig M; Chelly J; Anheim M;
    JAMA Neurol; 2018 Oct; 75(10):1234-1245. PubMed ID: 29913018
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Inherited myoclonus-dystonia: evidence supporting genetic heterogeneity.
    Grimes DA; Bulman D; George-Hyslop PS; Lang AE
    Mov Disord; 2001 Jan; 16(1):106-10. PubMed ID: 11215567
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.
    Hemati P; Revah-Politi A; Bassan H; Petrovski S; Bilancia CG; Ramsey K; Griffin NG; Bier L; Cho MT; Rosello M; Lynch SA; Colombo S; Weber A; Haug M; Heinzen EL; Sands TT; Narayanan V; Primiano M; Aggarwal VS; Millan F; Sattler-Holtrop SG; Caro-Llopis A; Pillar N; Baker J; Freedman R; Kroes HY; Sacharow S; Stong N; Lapunzina P; Schneider MC; Mendelsohn NJ; Singleton A; Loik Ramey V; Wou K; Kuzminsky A; Monfort S; Weiss M; Doyle S; Iglesias A; Martinez F; Mckenzie F; Orellana C; van Gassen KLI; Palomares M; Bazak L; Lee A; Bircher A; Basel-Vanagaite L; Hafström M; Houge G; ; ; Goldstein DB; Anyane-Yeboa K
    Am J Med Genet A; 2018 Nov; 176(11):2259-2275. PubMed ID: 30194818
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.