BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

251 related articles for article (PubMed ID: 19646678)

  • 1. Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene.
    Renbaum P; Kellerman E; Jaron R; Geiger D; Segel R; Lee M; King MC; Levy-Lahad E
    Am J Hum Genet; 2009 Aug; 85(2):281-9. PubMed ID: 19646678
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The spinal muscular atrophy with pontocerebellar hypoplasia gene VRK1 regulates neuronal migration through an amyloid-β precursor protein-dependent mechanism.
    Vinograd-Byk H; Sapir T; Cantarero L; Lazo PA; Zeligson S; Lev D; Lerman-Sagie T; Renbaum P; Reiner O; Levy-Lahad E
    J Neurosci; 2015 Jan; 35(3):936-42. PubMed ID: 25609612
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Motor neuron diseases caused by a novel VRK1 variant - A genotype/phenotype study.
    Sedghi M; Moslemi AR; Olive M; Etemadifar M; Ansari B; Nasiri J; Emrahi L; Mianesaz HR; Laing NG; Tajsharghi H
    Ann Clin Transl Neurol; 2019 Nov; 6(11):2197-2204. PubMed ID: 31560180
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A novel mutation in VRK1 associated with distal spinal muscular atrophy.
    Li N; Wang L; Sun X; Lu Z; Suo X; Li J; Peng J; Peng R
    J Hum Genet; 2019 Mar; 64(3):215-219. PubMed ID: 30617279
    [TBL] [Abstract][Full Text] [Related]  

  • 5. VRK1 functional insufficiency due to alterations in protein stability or kinase activity of human VRK1 pathogenic variants implicated in neuromotor syndromes.
    Martín-Doncel E; Rojas AM; Cantarero L; Lazo PA
    Sci Rep; 2019 Sep; 9(1):13381. PubMed ID: 31527692
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Novel motor phenotypes in patients with VRK1 mutations without pontocerebellar hypoplasia.
    Stoll M; Teoh H; Lee J; Reddel S; Zhu Y; Buckley M; Sampaio H; Roscioli T; Farrar M; Nicholson G
    Neurology; 2016 Jul; 87(1):65-70. PubMed ID: 27281532
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Identification of a homozygous VRK1 mutation in two patients with adult-onset distal hereditary motor neuropathy.
    Greenbaum L; Barel O; Nikitin V; Hersalis-Eldar A; Kol N; Reznik-Wolf H; Dominissini D; Pras E; Dori A
    Muscle Nerve; 2020 Mar; 61(3):395-400. PubMed ID: 31837156
    [TBL] [Abstract][Full Text] [Related]  

  • 8. VRK1 (Y213H) homozygous mutant impairs Cajal bodies in a hereditary case of distal motor neuropathy.
    Marcos AT; Martín-Doncel E; Morejón-García P; Marcos-Alcalde I; Gómez-Puertas P; Segura-Puimedon M; Armengol L; Navarro-Pando JM; Lazo PA
    Ann Clin Transl Neurol; 2020 May; 7(5):808-818. PubMed ID: 32365420
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Pontocerebellar hypoplasia type 1 for the neuropediatrician: Genotype-phenotype correlations and diagnostic guidelines based on new cases and overview of the literature.
    Ivanov I; Atkinson D; Litvinenko I; Angelova L; Andonova S; Mumdjiev H; Pacheva I; Panova M; Yordanova R; Belovejdov V; Petrova A; Bosheva M; Shmilev T; Savov A; Jordanova A
    Eur J Paediatr Neurol; 2018 Jul; 22(4):674-681. PubMed ID: 29656927
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A novel
    Feng SY; Li LY; Feng SM; Zou ZY
    Ann Clin Transl Neurol; 2019 Feb; 6(2):401-405. PubMed ID: 30847374
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Extended phenotype of pontocerebellar hypoplasia with infantile spinal muscular atrophy.
    Rudnik-Schöneborn S; Sztriha L; Aithala GR; Houge G; Laegreid LM; Seeger J; Huppke M; Wirth B; Zerres K
    Am J Med Genet A; 2003 Feb; 117A(1):10-7. PubMed ID: 12548734
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Linkage mapping of the spinal muscular atrophy gene.
    Burghes AH; Ingraham SE; Kóte-Jarai Z; Rosenfeld S; Herta N; Nadkarni N; DiDonato CJ; Carpten J; Hurko O; Florence J
    Hum Genet; 1994 Mar; 93(3):305-12. PubMed ID: 8125483
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals.
    Hahnen E; Forkert R; Marke C; Rudnik-Schöneborn S; Schönling J; Zerres K; Wirth B
    Hum Mol Genet; 1995 Oct; 4(10):1927-33. PubMed ID: 8595417
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Distal spinal muscular atrophy featured by predominant calf muscle involvement in VRK1 associated disease - Case series and review.
    Demaegd K; Brilstra EH; Hoogendijk JE; de Bie CI; de Pagter MS; van Hecke W; Mühlebner A; van Es MA; Milone M; van Rheenen W
    Neuromuscul Disord; 2022 Jun; 32(6):527-532. PubMed ID: 35641352
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Dominant spinal muscular atrophy with lower extremity predominance: linkage to 14q32.
    Harms MB; Allred P; Gardner R; Fernandes Filho JA; Florence J; Pestronk A; Al-Lozi M; Baloh RH
    Neurology; 2010 Aug; 75(6):539-46. PubMed ID: 20697106
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3.
    Brzustowicz LM; Lehner T; Castilla LH; Penchaszadeh GK; Wilhelmsen KC; Daniels R; Davies KE; Leppert M; Ziter F; Wood D
    Nature; 1990 Apr; 344(6266):540-1. PubMed ID: 2320125
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Infantile onset progressive cerebellar atrophy and anterior horn cell Degeneration-A novel phenotype associated with mutations in the PLA2G6 gene.
    Gafner M; Michelson M; Yosovich K; Blumkin L; Lerman-Sagie T; Lev D
    Eur J Med Genet; 2020 Apr; 63(4):103801. PubMed ID: 31689548
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Linkage and apparent heterogeneity in proximal spinal muscular atrophies.
    Cobben JM; Scheffer H; De Visser M; Osinga J; Frants R; van der Steege G; Wijmenga C; ten Kate LP; van Ommen GJ; Buys CH
    Neuromuscul Disord; 1993 Jul; 3(4):327-33. PubMed ID: 8268730
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Deletion analysis of the simple tandem repeat loci physically linked to the spinal muscular atrophy locus.
    Capon F; Levato C; Bussaglia E; Lo Cicero S; Tizzano EF; Baiget M; Silani V; Pizzuti A; Novelli G; Dallapiccola B
    Hum Mutat; 1996; 7(3):198-201. PubMed ID: 8829652
    [TBL] [Abstract][Full Text] [Related]  

  • 20. EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations.
    Eggens VR; Barth PG; Niermeijer JM; Berg JN; Darin N; Dixit A; Fluss J; Foulds N; Fowler D; Hortobágyi T; Jacques T; King MD; Makrythanasis P; Máté A; Nicoll JA; O'Rourke D; Price S; Williams AN; Wilson L; Suri M; Sztriha L; Dijns-de Wissel MB; van Meegen MT; van Ruissen F; Aronica E; Troost D; Majoie CB; Marquering HA; Poll-Thé BT; Baas F
    Orphanet J Rare Dis; 2014 Feb; 9():23. PubMed ID: 24524299
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.