BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

198 related articles for article (PubMed ID: 11723204)

  • 1. A large family with hereditary spastic paraparesis due to a frame shift mutation of the spastin (SPG4) gene: association with multiple sclerosis in two affected siblings and epilepsy in other affected family members.
    Mead SH; Proukakis C; Wood N; Crosby AH; Plant GT; Warner TT
    J Neurol Neurosurg Psychiatry; 2001 Dec; 71(6):788-91. PubMed ID: 11723204
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Clinical and pathologic findings in hereditary spastic paraparesis with spastin mutation.
    White KD; Ince PG; Lusher M; Lindsey J; Cookson M; Bashir R; Shaw PJ; Bushby KM
    Neurology; 2000 Jul; 55(1):89-94. PubMed ID: 10891911
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation.
    Nielsen JE; Johnsen B; Koefoed P; Scheuer KH; Grønbech-Jensen M; Law I; Krabbe K; Nørremølle A; Eiberg H; Søndergård H; Dam M; Rehfeld JF; Krarup C; Paulson OB; Hasholt L; Sørensen SA
    Eur J Neurol; 2004 Dec; 11(12):817-24. PubMed ID: 15667412
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [From gene to disease; spastin and hereditary spastic paraparesis].
    Bruyn RP; Frants RR
    Ned Tijdschr Geneeskd; 2004 Jan; 148(4):179-81. PubMed ID: 14974310
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Clinical signs and symptoms in a large hereditary spastic paraparesis pedigree with a novel spastin mutation.
    Nicholas AP; O'Hearn E; Holmes SE; Chen DT; Margolis RL
    Mov Disord; 2004 Jun; 19(6):641-8. PubMed ID: 15197701
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Hereditary spastic paraplegia caused by mutations in the SPG4 gene.
    Bürger J; Fonknechten N; Hoeltzenbein M; Neumann L; Bratanoff E; Hazan J; Reis A
    Eur J Hum Genet; 2000 Oct; 8(10):771-6. PubMed ID: 11039577
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia.
    Sauter S; Miterski B; Klimpe S; Bönsch D; Schöls L; Visbeck A; Papke T; Hopf HC; Engel W; Deufel T; Epplen JT; Neesen J
    Hum Mutat; 2002 Aug; 20(2):127-32. PubMed ID: 12124993
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis.
    Lindsey JC; Lusher ME; McDermott CJ; White KD; Reid E; Rubinsztein DC; Bashir R; Hazan J; Shaw PJ; Bushby KM
    J Med Genet; 2000 Oct; 37(10):759-65. PubMed ID: 11015453
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Novel spastin mutations and their expression analysis in two Italian families.
    Molon A; Montagna P; Angelini C; Pegoraro E
    Eur J Hum Genet; 2003 Sep; 11(9):710-3. PubMed ID: 12939659
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Phenotype of AD-HSP due to mutations in the SPAST gene: comparison with AD-HSP without mutations.
    McMonagle P; Byrne PC; Fitzgerald B; Webb S; Parfrey NA; Hutchinson M
    Neurology; 2000 Dec; 55(12):1794-800. PubMed ID: 11134375
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Three novel spastin (SPG4) mutations in families with autosomal dominant hereditary spastic paraplegia.
    Proukakis C; Hart PE; Cornish A; Warner TT; Crosby AH
    J Neurol Sci; 2002 Sep; 201(1-2):65-9. PubMed ID: 12163196
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Posterior fossa abnormalities in hereditary spastic paraparesis with spastin mutations.
    Scuderi C; Fichera M; Calabrese G; Elia M; Amato C; Savio M; Borgione E; Vitello GA; Musumeci SA
    J Neurol Neurosurg Psychiatry; 2009 Apr; 80(4):440-3. PubMed ID: 19289482
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases.
    Depienne C; Tallaksen C; Lephay JY; Bricka B; Poea-Guyon S; Fontaine B; Labauge P; Brice A; Durr A
    J Med Genet; 2006 Mar; 43(3):259-65. PubMed ID: 16055926
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Large deletion involving the 5'-UTR in the spastin gene caused mild phenotype of autosomal dominant hereditary spastic paraplegia.
    Iwanaga H; Tsujino A; Shirabe S; Eguchi H; Fukushima N; Niikawa N; Yoshiura K; Eguchi K
    Am J Med Genet A; 2005 Feb; 133A(1):13-7. PubMed ID: 15637712
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A novel mutation in the spastin gene in a family with spastic paraplegia.
    Morita M; Ho M; Hosler BA; McKenna-Yasek D; Brown RH
    Neurosci Lett; 2002 May; 325(1):57-61. PubMed ID: 12023066
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Identification of a novel mutation in the spastin gene (SPG4) in an Italian family with hereditary spastic paresis.
    Bertelli M; Cecchin S; Lorusso L; Sidoti V; Fabbri A; Lapucci C; Buda A; Pandolfo M
    Panminerva Med; 2006 Sep; 48(3):193-7. PubMed ID: 17122756
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Motor system abnormalities in hereditary spastic paraparesis type 4 (SPG4) depend on the type of mutation in the spastin gene.
    Bönsch D; Schwindt A; Navratil P; Palm D; Neumann C; Klimpe S; Schickel J; Hazan J; Weiller C; Deufel T; Liepert J
    J Neurol Neurosurg Psychiatry; 2003 Aug; 74(8):1109-12. PubMed ID: 12876245
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Novel deletion of SPAST in a Chinese family with hereditary spastic paraplegia.
    Feng Y; Ke X; Zhai M; Xin Q; Gong Y; Liu Q
    Singapore Med J; 2013 May; 54(5):251-4. PubMed ID: 23716148
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Infantile hereditary spastic paraparesis due to codominant mutations in the spastin gene.
    Chinnery PF; Keers SM; Holden MJ; Ramesh V; Dalton A
    Neurology; 2004 Aug; 63(4):710-2. PubMed ID: 15326248
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Dementia in SPG4 hereditary spastic paraplegia: clinical, genetic, and neuropathologic evidence.
    Murphy S; Gorman G; Beetz C; Byrne P; Dytko M; McMonagle P; Kinsella K; Farrell M; Hutchinson M
    Neurology; 2009 Aug; 73(5):378-84. PubMed ID: 19652142
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.