BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

462 related articles for article (PubMed ID: 18067136)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum.
    Abdel Aleem A; Abu-Shahba N; Swistun D; Silhavy J; Bielas SL; Sattar S; Gleeson JG; Zaki MS
    Eur J Med Genet; 2011; 54(1):82-5. PubMed ID: 20971220
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 (SPG11).
    Winner B; Uyanik G; Gross C; Lange M; Schulte-Mattler W; Schuierer G; Marienhagen J; Hehr U; Winkler J
    Arch Neurol; 2004 Jan; 61(1):117-21. PubMed ID: 14732628
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum.
    Blumkin L; Lerman-Sagie T; Lev D; Yosovich K; Leshinsky-Silver E
    J Neurol Sci; 2011 Jun; 305(1-2):67-70. PubMed ID: 21440262
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Further clinical and genetic characterization of SPG11: hereditary spastic paraplegia with thin corpus callosum.
    Olmez A; Uyanik G; Ozgül RK; Gross C; Cirak S; Elibol B; Anlar B; Winner B; Hehr U; Topaloglu H; Winkler J
    Neuropediatrics; 2006 Apr; 37(2):59-66. PubMed ID: 16773502
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Dysfunction of spatacsin leads to axonal pathology in SPG11-linked hereditary spastic paraplegia.
    Pérez-Brangulí F; Mishra HK; Prots I; Havlicek S; Kohl Z; Saul D; Rummel C; Dorca-Arevalo J; Regensburger M; Graef D; Sock E; Blasi J; Groemer TW; Schlötzer-Schrehardt U; Winkler J; Winner B
    Hum Mol Genet; 2014 Sep; 23(18):4859-74. PubMed ID: 24794856
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
    Kara E; Tucci A; Manzoni C; Lynch DS; Elpidorou M; Bettencourt C; Chelban V; Manole A; Hamed SA; Haridy NA; Federoff M; Preza E; Hughes D; Pittman A; Jaunmuktane Z; Brandner S; Xiromerisiou G; Wiethoff S; Schottlaender L; Proukakis C; Morris H; Warner T; Bhatia KP; Korlipara LV; Singleton AB; Hardy J; Wood NW; Lewis PA; Houlden H
    Brain; 2016 Jul; 139(Pt 7):1904-18. PubMed ID: 27217339
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 24.