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 *

253 related articles for article (PubMed ID: 19194956)

  • 1. SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration.
    Orlén H; Melberg A; Raininko R; Kumlien E; Entesarian M; Söderberg P; Påhlman M; Darin N; Kyllerman M; Holmberg E; Engler H; Eriksson U; Dahl N
    Am J Med Genet B Neuropsychiatr Genet; 2009 Oct; 150B(7):984-92. PubMed ID: 19194956
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A case report of SPG11 mutations in a Chinese ARHSP-TCC family.
    Zhang L; McFarland KN; Jiao J; Jiao Y
    BMC Neurol; 2016 Jun; 16():87. PubMed ID: 27256065
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.
    Pensato V; Castellotti B; Gellera C; Pareyson D; Ciano C; Nanetti L; Salsano E; Piscosquito G; Sarto E; Eoli M; Moroni I; Soliveri P; Lamperti E; Chiapparini L; Di Bella D; Taroni F; Mariotti C
    Brain; 2014 Jul; 137(Pt 7):1907-20. PubMed ID: 24833714
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.
    Stevanin G; Azzedine H; Denora P; Boukhris A; Tazir M; Lossos A; Rosa AL; Lerer I; Hamri A; Alegria P; Loureiro J; Tada M; Hannequin D; Anheim M; Goizet C; Gonzalez-Martinez V; Le Ber I; Forlani S; Iwabuchi K; Meiner V; Uyanik G; Erichsen AK; Feki I; Pasquier F; Belarbi S; Cruz VT; Depienne C; Truchetto J; Garrigues G; Tallaksen C; Tranchant C; Nishizawa M; Vale J; Coutinho P; Santorelli FM; Mhiri C; Brice A; Durr A;
    Brain; 2008 Mar; 131(Pt 3):772-84. PubMed ID: 18079167
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia.
    Hehr U; Bauer P; Winner B; Schule R; Olmez A; Koehler W; Uyanik G; Engel A; Lenz D; Seibel A; Hehr A; Ploetz S; Gamez J; Rolfs A; Weis J; Ringer TM; Bonin M; Schuierer G; Marienhagen J; Bogdahn U; Weber BH; Topaloglu H; Schols L; Riess O; Winkler J
    Ann Neurol; 2007 Dec; 62(6):656-65. PubMed ID: 18067136
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Novel mutations c.[5121_5122insAG]+[6859C>T] of the SPG11 gene associated with cerebellum hypometabolism in a Chinese case of hereditary spastic paraplegia with thin corpus callosum.
    Ma J; Xiong L; Chang Y; Jing X; Huang W; Hu B; Shi X; Xu W; Wang Y; Li X
    Parkinsonism Relat Disord; 2014 Feb; 20(2):256-9. PubMed ID: 24315199
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia.
    Schüle R; Schlipf N; Synofzik M; Klebe S; Klimpe S; Hehr U; Winner B; Lindig T; Dotzer A; Riess O; Winkler J; Schöls L; Bauer P
    J Neurol Neurosurg Psychiatry; 2009 Dec; 80(12):1402-4. PubMed ID: 19917823
    [TBL] [Abstract][Full Text] [Related]  

  • 9. SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia.
    Paisan-Ruiz C; Dogu O; Yilmaz A; Houlden H; Singleton A
    Neurology; 2008 Apr; 70(16 Pt 2):1384-9. PubMed ID: 18337587
    [TBL] [Abstract][Full Text] [Related]  

  • 10. ZFYVE26/SPASTIZIN and SPG11/SPATACSIN mutations in hereditary spastic paraplegia types AR-SPG15 and AR-SPG11 have different effects on autophagy and endocytosis.
    Vantaggiato C; Panzeri E; Castelli M; Citterio A; Arnoldi A; Santorelli FM; Liguori R; Scarlato M; Musumeci O; Toscano A; Clementi E; Bassi MT
    Autophagy; 2019 Jan; 15(1):34-57. PubMed ID: 30081747
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11).
    Paisan-Ruiz C; Nath P; Wood NW; Singleton A; Houlden H
    Eur J Neurol; 2008 Oct; 15(10):1065-70. PubMed ID: 18717728
    [TBL] [Abstract][Full Text] [Related]  

  • 13. SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum.
    Goizet C; Boukhris A; Maltete D; Guyant-Maréchal L; Truchetto J; Mundwiller E; Hanein S; Jonveaux P; Roelens F; Loureiro J; Godet E; Forlani S; Melki J; Auer-Grumbach M; Fernandez JC; Martin-Hardy P; Sibon I; Sole G; Orignac I; Mhiri C; Coutinho P; Durr A; Brice A; Stevanin G
    Neurology; 2009 Oct; 73(14):1111-9. PubMed ID: 19805727
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Autosomal recessive hereditary spastic paraplegia with thin corpus callosum among Saudis.
    Wakil SM; Murad HN; Baz BM; Hagos ST; Al-Amr RA; Al-Yamani SA; Al-Wadaee SM; Meyer BF; Bohlega SA
    Neurosciences (Riyadh); 2012 Jan; 17(1):48-52. PubMed ID: 22246010
    [TBL] [Abstract][Full Text] [Related]  

  • 15. An autopsied case report of spastic paraplegia with thin corpus callosum carrying a novel mutation in the SPG11 gene: widespread degeneration with eosinophilic inclusions.
    Hayakawa M; Matsubara T; Mochizuki Y; Takeuchi C; Minamitani M; Imai M; Kosaki K; Arai T; Murayama S
    BMC Neurol; 2022 Jan; 22(1):2. PubMed ID: 34979968
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Novel mutations of the SPG11 gene in hereditary spastic paraplegia with thin corpus callosum.
    Liao SS; Shen L; Du J; Zhao GH; Wang XY; Yang Y; Xiao ZQ; Yuan Y; Jiang H; Li N; Sun HD; Wang JL; Wang CY; Zhou YF; Mo XY; Xia K; Tang BS
    J Neurol Sci; 2008 Dec; 275(1-2):92-9. PubMed ID: 18835492
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Pattern reversal visual evoked potentials (prVEPs) in autosomal recessive hereditary spastic paraplegia with thin corpus callosum (ARHSPTCC) patients with SPG 11 mutations in Saudi Arabia, cross section hospital base study.
    Alfaidi N; Sobahy T; Ali Q; Al Said Y; Karim G; Khan H; Kurdi K; Cupler E
    J Neurol Sci; 2022 Mar; 434():120144. PubMed ID: 35074613
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa-responsive Parkinsonism.
    Guidubaldi A; Piano C; Santorelli FM; Silvestri G; Petracca M; Tessa A; Bentivoglio AR
    Mov Disord; 2011 Feb; 26(3):553-6. PubMed ID: 21381113
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Exome sequencing identifies novel compound heterozygous mutations in SPG11 that cause autosomal recessive hereditary spastic paraplegia.
    Zhao W; Zhu QY; Zhang JT; Liu H; Wang LJ; Chen ZQ; Guan LP; Huang XS; Yang L; Yu SY
    J Neurol Sci; 2013 Dec; 335(1-2):112-7. PubMed ID: 24090761
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.
    Stevanin G; Santorelli FM; Azzedine H; Coutinho P; Chomilier J; Denora PS; Martin E; Ouvrard-Hernandez AM; Tessa A; Bouslam N; Lossos A; Charles P; Loureiro JL; Elleuch N; Confavreux C; Cruz VT; Ruberg M; Leguern E; Grid D; Tazir M; Fontaine B; Filla A; Bertini E; Durr A; Brice A
    Nat Genet; 2007 Mar; 39(3):366-72. PubMed ID: 17322883
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.