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 *

76 related articles for article (PubMed ID: 29732542)

  • 1. Homocarnosinosis: A historical update and findings in the SPG11 gene.
    Sjaastad O; Blau N; Rydning SL; Peters V; Rødningen O; Stray-Pedersen A; Krossnes B; Tallaksen C; Koht J
    Acta Neurol Scand; 2018 Sep; 138(3):245-250. PubMed ID: 29732542
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Homocarnosinosis. 2. A familial metabolic disorder associated with spastic paraplegia, progressive mental deficiency, and retinal pigmentation.
    Sjaastad O; Berstad J; Gjesdahl P; Gjessing L
    Acta Neurol Scand; 1976 Apr; 53(4):275-90. PubMed ID: 1266573
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Homocarnosinosis: lack of serum carnosinase is the defect probably responsible for elevated brain and CSF homocarnosine.
    Lenney JF; Peppers SC; Kucera CM; Sjaastad O
    Clin Chim Acta; 1983 Aug; 132(2):157-65. PubMed ID: 6616870
    [TBL] [Abstract][Full Text] [Related]  

  • 4. SPG11--the most common type of recessive spastic paraplegia in Norway?
    Erichsen AK; Stevanin G; Denora P; Brice A; Tallaksen CM
    Acta Neurol Scand Suppl; 2008; 188():46-50. PubMed ID: 18439221
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [Serum carnosinase deficiency and homocarnosinosis].
    Hamajima N; Wada Y
    Ryoikibetsu Shokogun Shirizu; 1998; (18 Pt 1):252-4. PubMed ID: 9590040
    [No Abstract]   [Full Text] [Related]  

  • 6. Homocarnosinosis: influence of dietary restriction of histidine.
    Lunde HA; Gjessing LR; Sjaastad O
    Neurochem Res; 1986 Jun; 11(6):825-38. PubMed ID: 3736769
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15, and further genetic heterogeneity.
    Boukhris A; Stevanin G; Feki I; Denis E; Elleuch N; Miladi MI; Truchetto J; Denora P; Belal S; Mhiri C; Brice A
    Arch Neurol; 2008 Mar; 65(3):393-402. PubMed ID: 18332254
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with stroke-like imaging presentation: clinical, biochemical and molecular analysis.
    Al-Hassnan ZN; Rashed MS; Al-Dirbashi OY; Patay Z; Rahbeeni Z; Abu-Amero KK
    J Neurol Sci; 2008 Jan; 264(1-2):187-94. PubMed ID: 17825324
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Homocarnosinosis. 3. Spinal fluid amino acids in familial spastic paraplegia.
    Sjaastad O; Gjessing L; Berstad JR; Gjesdahl P
    Acta Neurol Scand; 1977 Feb; 55(2):158-62. PubMed ID: 842287
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Late-onset spastic paraplegia: Aberrant SPG11 transcripts generated by a novel splice site donor mutation.
    Kawarai T; Miyamoto R; Mori A; Oki R; Tsukamoto-Miyashiro A; Matsui N; Miyazaki Y; Orlacchio A; Izumi Y; Nishida Y; Kaji R
    J Neurol Sci; 2015 Dec; 359(1-2):250-5. PubMed ID: 26671123
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Carnosinase, diabetes mellitus and the potential relevance of carnosinase deficiency.
    Peters V; Zschocke J; Schmitt CP
    J Inherit Metab Dis; 2018 Jan; 41(1):39-47. PubMed ID: 29027595
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Identification of novel SPG11 mutations in a cohort of Chinese families with hereditary spastic paraplegia.
    Du J; Hu YC; Tang BS; Jiang H; Shen L
    Int J Neurosci; 2018 Feb; 128(2):146-150. PubMed ID: 28933964
    [TBL] [Abstract][Full Text] [Related]  

  • 13. SPG11: a consistent clinical phenotype in a family with homozygous spatacsin truncating mutation.
    Del Bo R; Di Fonzo A; Ghezzi S; Locatelli F; Stevanin G; Costa A; Corti S; Bresolin N; Comi GP
    Neurogenetics; 2007 Nov; 8(4):301-5. PubMed ID: 17717710
    [TBL] [Abstract][Full Text] [Related]  

  • 14. SPG11 compound mutations in spastic paraparesis with thin corpus callosum.
    Samaranch L; Riverol M; Masdeu JC; Lorenzo E; Vidal-Taboada JM; Irigoyen J; Pastor MA; de Castro P; Pastor P
    Neurology; 2008 Jul; 71(5):332-6. PubMed ID: 18663179
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Congenital glutamine deficiency with glutamine synthetase mutations.
    Häberle J; Görg B; Rutsch F; Schmidt E; Toutain A; Benoist JF; Gelot A; Suc AL; Höhne W; Schliess F; Häussinger D; Koch HG
    N Engl J Med; 2005 Nov; 353(18):1926-33. PubMed ID: 16267323
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy.
    Wortmann SB; Kremer BH; Graham A; Willemsen MA; Loupatty FJ; Hogg SL; Engelke UF; Kluijtmans LA; Wanders RJ; Illsinger S; Wilcken B; Cruysberg JR; Das AM; Morava E; Wevers RA
    Neurology; 2010 Sep; 75(12):1079-83. PubMed ID: 20855850
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Monozygotic twins with a new compound heterozygous SPG11 mutation and different disease expression.
    Schneider-Gold C; Dekomien G; Regensburger M; Schneider R; Trampe N; Krogias C; Lukas C; Bellenberg B
    J Neurol Sci; 2017 Oct; 381():265-268. PubMed ID: 28991695
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Kjellin syndrome: long-term neuro-ophthalmologic follow-up and novel mutations in the SPG11 gene.
    Puech B; Lacour A; Stevanin G; Sautiere BG; Devos D; Depienne C; Denis E; Mundwiller E; Ferriby D; Vermersch P; Defoort-Dhellemmes S
    Ophthalmology; 2011 Mar; 118(3):564-73. PubMed ID: 21035867
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Exome sequencing reveals SPG11 mutations causing juvenile ALS.
    Daoud H; Zhou S; Noreau A; Sabbagh M; Belzil V; Dionne-Laporte A; Tranchant C; Dion P; Rouleau GA
    Neurobiol Aging; 2012 Apr; 33(4):839.e5-9. PubMed ID: 22154821
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Hereditary spastic paraplegia with thin corpus callosum: reduction of the SPG11 interval and evidence for further genetic heterogeneity.
    Lossos A; Stevanin G; Meiner V; Argov Z; Bouslam N; Newman JP; Gomori JM; Klebe S; Lerer I; Elleuch N; Silverstein S; Durr A; Abramsky O; Ben-Nariah Z; Brice A
    Arch Neurol; 2006 May; 63(5):756-60. PubMed ID: 16682547
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 4.