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 *

93 related articles for article (PubMed ID: 29897611)

  • 1. [A rare early-onset dystonia (DYT16) in a Portuguese girl].
    Almeida S; Rangel MA; Neiva C; Carrilho I; Leao M; Santos F; Vila Real M
    Rev Neurol; 2018 Jun; 66(12):434. PubMed ID: 29897611
    [TBL] [Abstract][Full Text] [Related]  

  • 2. PRKRA Mutation Causing Early-Onset Generalized Dystonia-Parkinsonism (DYT16) in an Italian Family.
    Quadri M; Olgiati S; Sensi M; Gualandi F; Groppo E; Rispoli V; Graafland J; Breedveld GJ; Fabbrini G; Berardelli A; Bonifati V
    Mov Disord; 2016 May; 31(5):765-7. PubMed ID: 26990861
    [No Abstract]   [Full Text] [Related]  

  • 3. DYT16: the original cases.
    Camargos S; Lees AJ; Singleton A; Cardoso F
    J Neurol Neurosurg Psychiatry; 2012 Oct; 83(10):1012-4. PubMed ID: 22842711
    [TBL] [Abstract][Full Text] [Related]  

  • 4. DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family.
    Zech M; Castrop F; Schormair B; Jochim A; Wieland T; Gross N; Lichtner P; Peters A; Gieger C; Meitinger T; Strom TM; Oexle K; Haslinger B; Winkelmann J
    Mov Disord; 2014 Oct; 29(12):1504-10. PubMed ID: 25142429
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Screening for dystonia genes DYT1, 11 and 16 in patients with writer's cramp.
    Ritz K; Groen JL; Kruisdijk JJ; Baas F; Koelman JH; Tijssen MA
    Mov Disord; 2009 Jul; 24(9):1390-2. PubMed ID: 19441135
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Early onset primary dystonia.
    Zorzi G; Zibordi F; Garavaglia B; Nardocci N
    Eur J Paediatr Neurol; 2009 Nov; 13(6):488-92. PubMed ID: 19157930
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Segawa disease with a novel heterozygous mutation in exon 5 of the GCH-1 gene (E183K).
    Ikeda T; Kanmura K; Kodama Y; Sawada K; Nunoi H; Hasegawa K
    Brain Dev; 2009 Feb; 31(2):173-5. PubMed ID: 18621497
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Camptocormia, axial dystonia, and parkinsonism: phenotypic heterogeneity of a parkin mutation.
    Inzelberg R; Hattori N; Nisipeanu P; Abo Mouch S; Blumen SC; Carasso RL; Mizuno Y
    Neurology; 2003 Apr; 60(8):1393-4. PubMed ID: 12707457
    [No Abstract]   [Full Text] [Related]  

  • 10. THAP1: role in focal dystonia?
    Ozelius LJ; Bressman SB
    Neurology; 2010 Jan; 74(3):192-3. PubMed ID: 20083795
    [No Abstract]   [Full Text] [Related]  

  • 11. ANO3 and early-onset dyskinetic encephalopathy.
    Jiménez de Domingo A; Lopez-Martín S; Albert J; Jiménez de la Peña M; Tirado P; Fernández-Mayoralas DM; Fernández-Perrone AL; Calleja-Pérez B; Martínez-García M; Álvarez S; Fernández-Jaén A
    Eur J Med Genet; 2020 Dec; 63(12):104085. PubMed ID: 33045406
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. An atypical case of early-onset dystonia with a novel missense variant in KMT2B.
    Zhou XY; Wu JJ; Sun YM
    Parkinsonism Relat Disord; 2019 Jun; 63():224-226. PubMed ID: 30253925
    [No Abstract]   [Full Text] [Related]  

  • 14. The prevalence of PRKRA mutations in idiopathic dystonia.
    Dos Santos CO; da Silva-Júnior FP; Puga RD; Barbosa ER; Azevedo Silva SMC; Borges V; Limongi JCP; Rocha MSG; Ferraz HB; de Carvalho Aguiar P
    Parkinsonism Relat Disord; 2018 Mar; 48():93-96. PubMed ID: 29279192
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Novel anoctamin-3 missense mutation responsible for early-onset myoclonic dystonia.
    Delamarre A; Chelly J; Guehl D; Drouot N; Tranchant C; Anheim M; Burbaud P
    Parkinsonism Relat Disord; 2019 Jul; 64():346-348. PubMed ID: 31053532
    [No Abstract]   [Full Text] [Related]  

  • 16. Levodopa-Responsive Isolated Generalized Dystonia in a Patient with Alpha-Mannosidosis Due to a Novel Homozygous MAN2B1 Missense Variant-A Novel Association.
    Holla VV; Gurram S; Kamath SD; Kamble N; Yadav R; Pal PK
    Mov Disord Clin Pract; 2024 Aug; 11 Suppl 2(Suppl 2):S8-S10. PubMed ID: 38243728
    [No Abstract]   [Full Text] [Related]  

  • 17. 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]  

  • 18. Dystonia in the Mohr-Tranebjaerg syndrome responds to GABAergic substances.
    Kreisel SH; Binder J; Wöhrle JC; Krauss JK; Hofmann S; Bauer MF; Hennerici MG; Bäzner H
    Mov Disord; 2004 Oct; 19(10):1241-3. PubMed ID: 15390009
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Autosomal recessive primary generalized dystonia in two siblings from a consanguineous family.
    Moretti P; Hedera P; Wald J; Fink J
    Mov Disord; 2005 Feb; 20(2):245-7. PubMed ID: 15390074
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Reply to letter: Novel compound heterozygous mutations in PRKRA cause pure dystonia.
    Zech M; Castrop F; Haslinger B; Winkelmann J
    Mov Disord; 2015 May; 30(6):878-9. PubMed ID: 25914261
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 5.