BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

154 related articles for article (PubMed ID: 24221643)

  • 1. Enhanced reticulospinal output in patients with (REEP1) hereditary spastic paraplegia type 31.
    Fisher KM; Chinnery PF; Baker SN; Baker MR
    J Neurol; 2013 Dec; 260(12):3182-4. PubMed ID: 24221643
    [No Abstract]   [Full Text] [Related]  

  • 2. Clinical and genetic study of a novel mutation in the REEP1 gene.
    Liu SG; Che FY; Heng XY; Li FF; Huang SZ; Lu DG; Hou SJ; Liu SE; Wang Q; Wang HP; Ma X
    Synapse; 2009 Mar; 63(3):201-5. PubMed ID: 19072839
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Electrophysiological characterisation in hereditary spastic paraplegia type 5.
    Manganelli F; Pisciotta C; Dubbioso R; Iodice R; Criscuolo C; Ruggiero L; De Michele G; Santoro L
    Clin Neurophysiol; 2011 Apr; 122(4):819-22. PubMed ID: 21111673
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Spastic paraplegia type 31: A novel REEP1 splice site donor variant and expansion of the phenotype variability.
    Kamada M; Kawarai T; Miyamoto R; Kawakita R; Tojima Y; Montecchiani C; D'Onofrio L; Caltagirone C; Orlacchio A; Kaji R
    Parkinsonism Relat Disord; 2018 Jan; 46():79-83. PubMed ID: 29107646
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A novel REEP1 splicing mutation with broad clinical variability in a family with hereditary spastic paraplegia.
    Park SY; Park JM; Lee B; Kim UK; Park JS
    Gene; 2021 Jan; 765():145129. PubMed ID: 32905827
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Peripheral neuropathy in hereditary spastic paraplegia caused by REEP1 variants.
    Toft A; Birk S; Ballegaard M; Dunø M; Hjermind LE; Nielsen JE; Svenstrup K
    J Neurol; 2019 Mar; 266(3):735-744. PubMed ID: 30637453
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31.
    Züchner S; Wang G; Tran-Viet KN; Nance MA; Gaskell PC; Vance JM; Ashley-Koch AE; Pericak-Vance MA
    Am J Hum Genet; 2006 Aug; 79(2):365-9. PubMed ID: 16826527
    [TBL] [Abstract][Full Text] [Related]  

  • 8. New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP).
    Hewamadduma C; McDermott C; Kirby J; Grierson A; Panayi M; Dalton A; Rajabally Y; Shaw P
    Neurogenetics; 2009 Apr; 10(2):105-10. PubMed ID: 19034539
    [TBL] [Abstract][Full Text] [Related]  

  • 9. REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.
    Beetz C; Schüle R; Deconinck T; Tran-Viet KN; Zhu H; Kremer BP; Frints SG; van Zelst-Stams WA; Byrne P; Otto S; Nygren AO; Baets J; Smets K; Ceulemans B; Dan B; Nagan N; Kassubek J; Klimpe S; Klopstock T; Stolze H; Smeets HJ; Schrander-Stumpel CT; Hutchinson M; van de Warrenburg BP; Braastad C; Deufel T; Pericak-Vance M; Schöls L; de Jonghe P; Züchner S
    Brain; 2008 Apr; 131(Pt 4):1078-86. PubMed ID: 18321925
    [TBL] [Abstract][Full Text] [Related]  

  • 10. REEPing the benefits of an animal model of hereditary spastic paraplegia.
    Deutch AY; Hedera P; Colbran RJ
    J Clin Invest; 2013 Oct; 123(10):4134-6. PubMed ID: 24051371
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Motor and somatosensory evoked potentials in Autosomal Dominant Hereditary Spastic Paraparesis (ADHSP) linked to chromosome 2p, SPG4.
    Sartucci F; Tovani S; Murri L; Sagliocco L
    Brain Res Bull; 2007 Sep; 74(4):243-9. PubMed ID: 17720546
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Motor evoked potentials from the external anal sphincter in patients with autosomal dominant pure spastic paraplegia linked to chromosome 2p.
    Jennum P; Neerup Jensen L; Fenger K; Nielsen JE; Fuglsang-Frederiksen A; Nielsen JE
    J Neurol Neurosurg Psychiatry; 2001 Oct; 71(4):561-2. PubMed ID: 11561054
    [No Abstract]   [Full Text] [Related]  

  • 13. Reep1 null mice reveal a converging role for hereditary spastic paraplegia proteins in lipid droplet regulation.
    Renvoisé B; Malone B; Falgairolle M; Munasinghe J; Stadler J; Sibilla C; Park SH; Blackstone C
    Hum Mol Genet; 2016 Dec; 25(23):5111-5125. PubMed ID: 27638887
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A spastic paraplegia mouse model reveals REEP1-dependent ER shaping.
    Beetz C; Koch N; Khundadze M; Zimmer G; Nietzsche S; Hertel N; Huebner AK; Mumtaz R; Schweizer M; Dirren E; Karle KN; Irintchev A; Alvarez V; Redies C; Westermann M; Kurth I; Deufel T; Kessels MM; Qualmann B; Hübner CA
    J Clin Invest; 2013 Oct; 123(10):4273-82. PubMed ID: 24051375
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Deletional variant of REEP1 gene in a pedigree affected with spastic paraplegia type 31].
    Xu G; Niu Y; Chen S; Shu J; Dang L; Zhao P; Cai C
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Jun; 36(6):581-583. PubMed ID: 31055810
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Hereditary spastic paraplegia due to a novel mutation of the REEP1 gene: Case report and literature review.
    Richard S; Lavie J; Banneau G; Voirand N; Lavandier K; Debouverie M
    Medicine (Baltimore); 2017 Jan; 96(3):e5911. PubMed ID: 28099355
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia.
    McCorquodale DS; Ozomaro U; Huang J; Montenegro G; Kushman A; Citrigno L; Price J; Speziani F; Pericak-Vance MA; Züchner S
    Clin Genet; 2011 Jun; 79(6):523-30. PubMed ID: 20718791
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Hereditary spastic paraplegia-linked REEP1 modulates endoplasmic reticulum/mitochondria contacts.
    Lim Y; Cho IT; Schoel LJ; Cho G; Golden JA
    Ann Neurol; 2015 Nov; 78(5):679-96. PubMed ID: 26201691
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients.
    Elert-Dobkowska E; Stepniak I; Krysa W; Rajkiewicz M; Rakowicz M; Sobanska A; Rudzinska M; Wasielewska A; Pilch J; Kubalska J; Lipczynska-Lojkowska W; Kulczycki J; Kurdziel K; Sikorska A; Beetz C; Zaremba J; Sulek A
    J Neurol Sci; 2015 Dec; 359(1-2):35-9. PubMed ID: 26671083
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Functional mutation analysis provides evidence for a role of REEP1 in lipid droplet biology.
    Falk J; Rohde M; Bekhite MM; Neugebauer S; Hemmerich P; Kiehntopf M; Deufel T; Hübner CA; Beetz C
    Hum Mutat; 2014 Apr; 35(4):497-504. PubMed ID: 24478229
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.