BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

163 related articles for article (PubMed ID: 33305852)

  • 21. Segmental dystonia as the prominent phenotype resulting from a MICU1 splice variant in a new Indian case.
    Fevga C; Ferraro F; Breedveld GJ; Savant Sankhla C; Bonifati V
    Parkinsonism Relat Disord; 2022 Oct; 103():141-143. PubMed ID: 36115200
    [No Abstract]   [Full Text] [Related]  

  • 22. Increased risk for recurrent major depression in DYT1 dystonia mutation carriers.
    Duane DD
    Neurology; 2005 May; 64(10):1821-2; author reply 1821-2. PubMed ID: 15911830
    [No Abstract]   [Full Text] [Related]  

  • 23. Generalized Dystonia as a Prominent Feature in a Case of NUS1 Gene Mutation.
    Gunzler SA; DeBrosse SD
    Can J Neurol Sci; 2021 May; 48(3):433-434. PubMed ID: 32959737
    [No Abstract]   [Full Text] [Related]  

  • 24. Monogenic Causes of Dystonic Syndromes: Common in Dystonic Cerebral Palsy, Rare in Isolated Dystonia.
    Lange LM; Klein C
    Mov Disord; 2021 Jan; 36(1):84. PubMed ID: 33284469
    [No Abstract]   [Full Text] [Related]  

  • 25. Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing.
    Zech M; Jech R; Wagner M; Mantel T; Boesch S; Nocker M; Jochim A; Berutti R; Havránková P; Fečíková A; Kemlink D; Roth J; Strom TM; Poewe W; Růžička E; Haslinger B; Winkelmann J
    Neurogenetics; 2017 Dec; 18(4):195-205. PubMed ID: 28849312
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Frequency of DYT1 mutation in early onset primary dystonia in Italian patients.
    Zorzi G; Garavaglia B; Invernizzi F; Girotti F; Soliveri P; Zeviani M; Angelini L; Nardocci N
    Mov Disord; 2002 Mar; 17(2):407-8. PubMed ID: 11921134
    [TBL] [Abstract][Full Text] [Related]  

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

  • 28. Early-Onset Dystonia, Exacerbation With Fever, and Striatal Signal Changes: Emerging Phenotype of DYT-
    Bhowmick SS; Raha S; Bohora A
    Neurology; 2022 Aug; 99(5):206-207. PubMed ID: 35914940
    [No Abstract]   [Full Text] [Related]  

  • 29. Child Neurology: Genetically determined dystonias with childhood onset.
    Larsh T; Friedman N; Fernandez H
    Neurology; 2020 May; 94(20):892-895. PubMed ID: 32033988
    [No Abstract]   [Full Text] [Related]  

  • 30. Phenotype of the DYT1 mutation in the TOR1A gene in a Polish population of patients with dystonia. A preliminary report.
    Gajos A; Piaskowski S; Sławek J; Ochudło S; Opala G; Łobińska A; Honczarenko K; Budrewicz S; Koszewicz M; Pełszyńska B; Liberski PP; Bogucki A
    Neurol Neurochir Pol; 2007; 41(6):487-94. PubMed ID: 18224570
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Update on KMT2B-Related Dystonia.
    Zech M; Lam DD; Winkelmann J
    Curr Neurol Neurosci Rep; 2019 Nov; 19(11):92. PubMed ID: 31768667
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Update on the Genetics of Dystonia.
    Lohmann K; Klein C
    Curr Neurol Neurosci Rep; 2017 Mar; 17(3):26. PubMed ID: 28283962
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Review of the phenotype of early-onset generalised progressive dystonia due to mutations in KMT2B.
    Gorman KM; Meyer E; Kurian MA
    Eur J Paediatr Neurol; 2018 Mar; 22(2):245-256. PubMed ID: 29289525
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Early Onset Nonprogressive Generalized Dystonia Is Caused by Biallelic SHQ1 Variants.
    Revert Barberà A; Fernández Isern G; Ortigoza-Escobar JD
    Mov Disord; 2023 Jun; 38(6):1118-1119. PubMed ID: 37475611
    [No Abstract]   [Full Text] [Related]  

  • 35. A Novel Homozygous VPS11 Variant May Cause Generalized Dystonia.
    Monfrini E; Cogiamanian F; Salani S; Straniero L; Fagiolari G; Garbellini M; Carsana E; Borellini L; Biella F; Moggio M; Bresolin N; Corti S; Duga S; Comi GP; Aureli M; Di Fonzo A
    Ann Neurol; 2021 Apr; 89(4):834-839. PubMed ID: 33452836
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Phenotypic variability in a dystonia family with mutations in the manganese transporter gene.
    Delnooz CC; Wevers RA; Quadri M; Clayton PT; Mills PB; Tuschl K; Steenbergen EJ; Bonifati V; van de Warrenburg BP
    Mov Disord; 2013 May; 28(5):685-6. PubMed ID: 23592301
    [No Abstract]   [Full Text] [Related]  

  • 37. [Genetic dissection of dystonia].
    Tamiya G
    No To Shinkei; 2005 Nov; 57(11):935-44. PubMed ID: 16363633
    [No Abstract]   [Full Text] [Related]  

  • 38. Commentary.
    Brashear A
    Mov Disord; 2013 Dec; 28(14):1939. PubMed ID: 24323532
    [No Abstract]   [Full Text] [Related]  

  • 39. A heteroplasmic mitochondrial complex I gene mutation in adult-onset dystonia.
    Simon DK; Friedman J; Breakefield XO; Jankovic J; Brin MF; Provias J; Bressman SB; Charness ME; Tarsy D; Johns DR; Tarnopolsky MA
    Neurogenetics; 2003 Aug; 4(4):199-205. PubMed ID: 12756609
    [TBL] [Abstract][Full Text] [Related]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 9.