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 *

139 related articles for article (PubMed ID: 17503452)

  • 1. Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description.
    Klebe S; Durr A; Bouslam N; Grid D; Paternotte C; Depienne C; Hanein S; Bouhouche A; Elleuch N; Azzedine H; Poea-Guyon S; Forlani S; Denis E; Charon C; Hazan J; Brice A; Stevanin G
    Am J Med Genet B Neuropsychiatr Genet; 2007 Oct; 144B(7):854-61. PubMed ID: 17503452
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families.
    Elleuch N; Bouslam N; Hanein S; Lossos A; Hamri A; Klebe S; Meiner V; Birouk N; Lerer I; Grid D; Bacq D; Tazir M; Zelenika D; Argov Z; Durr A; Yahyaoui M; Benomar A; Brice A; Stevanin G
    Neurogenetics; 2007 Nov; 8(4):307-15. PubMed ID: 17661097
    [TBL] [Abstract][Full Text] [Related]  

  • 3. CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.
    Goizet C; Boukhris A; Durr A; Beetz C; Truchetto J; Tesson C; Tsaousidou M; Forlani S; Guyant-Maréchal L; Fontaine B; Guimarães J; Isidor B; Chazouillères O; Wendum D; Grid D; Chevy F; Chinnery PF; Coutinho P; Azulay JP; Feki I; Mochel F; Wolf C; Mhiri C; Crosby A; Brice A; Stevanin G
    Brain; 2009 Jun; 132(Pt 6):1589-600. PubMed ID: 19439420
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus.
    Muglia M; Criscuolo C; Magariello A; De Michele G; Scarano V; D'Adamo P; Ambrosio G; Gabriele AL; Patitucci A; Mazzei R; Conforti FL; Sprovieri T; Morgante L; Epifanio A; La Spina P; Valentino P; Gasparini P; Filla A; Quattrone A
    Neurogenetics; 2004 Feb; 5(1):49-54. PubMed ID: 14658060
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3.
    Klebe S; Azzedine H; Durr A; Bastien P; Bouslam N; Elleuch N; Forlani S; Charon C; Koenig M; Melki J; Brice A; Stevanin G
    Brain; 2006 Jun; 129(Pt 6):1456-62. PubMed ID: 16434418
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy.
    Al-Yahyaee S; Al-Gazali LI; De Jonghe P; Al-Barwany H; Al-Kindi M; De Vriendt E; Chand P; Koul R; Jacob PC; Gururaj A; Sztriha L; Parrado A; Van Broeckhoven C; Bayoumi RA
    Neurology; 2006 Apr; 66(8):1230-4. PubMed ID: 16636240
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28).
    Bouslam N; Benomar A; Azzedine H; Bouhouche A; Namekawa M; Klebe S; Charon C; Durr A; Ruberg M; Brice A; Yahyaoui M; Stevanin G
    Ann Neurol; 2005 Apr; 57(4):567-71. PubMed ID: 15786464
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum.
    Boukhris A; Feki I; Elleuch N; Miladi MI; Boland-Augé A; Truchetto J; Mundwiller E; Jezequel N; Zelenika D; Mhiri C; Brice A; Stevanin G
    Neurogenetics; 2010 Oct; 11(4):441-8. PubMed ID: 20593214
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Clinical heterogeneity of autosomal recessive spastic paraplegias: analysis of 106 patients in 46 families.
    Coutinho P; Barros J; Zemmouri R; Guimarães J; Alves C; Chorão R; Lourenço E; Ribeiro P; Loureiro JL; Santos JV; Hamri A; Paternotte C; Hazan J; Silva MC; Prud'homme JF; Grid D
    Arch Neurol; 1999 Aug; 56(8):943-9. PubMed ID: 10448799
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A clinical and genetic study of SPG5A linked autosomal recessive hereditary spastic paraplegia.
    Wilkinson PA; Crosby AH; Turner C; Patel H; Wood NW; Schapira AH; Warner TT
    Neurology; 2003 Jul; 61(2):235-8. PubMed ID: 12874406
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel form of autosomal recessive pure hereditary spastic paraplegia maps to chromosome 13q14.
    Hodgkinson CA; Bohlega S; Abu-Amero SN; Cupler E; Kambouris M; Meyer BF; Bharucha VA
    Neurology; 2002 Dec; 59(12):1905-9. PubMed ID: 12499481
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity.
    Stevanin G; Montagna G; Azzedine H; Valente EM; Durr A; Scarano V; Bouslam N; Cassandrini D; Denora PS; Criscuolo C; Belarbi S; Orlacchio A; Jonveaux P; Silvestri G; Hernandez AM; De Michele G; Tazir M; Mariotti C; Brockmann K; Malandrini A; van der Knapp MS; Neri M; Tonekaboni H; Melone MA; Tessa A; Dotti MT; Tosetti M; Pauri F; Federico A; Casali C; Cruz VT; Loureiro JL; Zara F; Forlani S; Bertini E; Coutinho P; Filla A; Brice A; Santorelli FM
    Neurogenetics; 2006 Jul; 7(3):149-56. PubMed ID: 16699786
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A new phenotype linked to SPG27 and refinement of the critical region on chromosome.
    Ribai P; Stevanin G; Bouslam N; Pontier B; Nelson I; Fontaine B; Dussert C; Charon C; Durr A; Brice A
    J Neurol; 2006 Jun; 253(6):714-9. PubMed ID: 16511635
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3-q25.1.
    Dursun U; Koroglu C; Kocasoy Orhan E; Ugur SA; Tolun A
    Neurogenetics; 2009 Oct; 10(4):325-31. PubMed ID: 19415352
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Two novel CYP7B1 mutations in Italian families with SPG5: a clinical and genetic study.
    Criscuolo C; Filla A; Coppola G; Rinaldi C; Carbone R; Pinto S; Wang Q; de Leva MF; Salvatore E; Banfi S; Brunetti A; Quarantelli M; Geschwind DH; Pappatà S; De Michele G
    J Neurol; 2009 Aug; 256(8):1252-7. PubMed ID: 19363635
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A novel locus for autosomal dominant "uncomplicated" hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3.
    Hanein S; Dürr A; Ribai P; Forlani S; Leutenegger AL; Nelson I; Babron MC; Elleuch N; Depienne C; Charon C; Brice A; Stevanin G
    Hum Genet; 2007 Nov; 122(3-4):261-73. PubMed ID: 17605047
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Linkage of autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum to chromosome 15A13-15.
    Shibasaki Y; Tanaka H; Iwabuchi K; Kawasaki S; Kondo H; Uekawa K; Ueda M; Kamiya T; Katayama Y; Nakamura A; Takashima H; Nakagawa M; Masuda M; Utsumi H; Nakamuro T; Tada K; Kurohara K; Inoue K; Koike F; Sakai T; Tsuji S; Kobayashi H
    Ann Neurol; 2000 Jul; 48(1):108-12. PubMed ID: 10894224
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Clinical and genetic analysis of Taiwanese patients with hereditary spastic paraplegia type 5.
    Lan MY; Yeh TH; Chang YY; Kuo HC; Sun HS; Lai SC; Lu CS
    Eur J Neurol; 2015 Jan; 22(1):211-4. PubMed ID: 24641183
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Autosomal dominant spastic paraplegia with peripheral neuropathy maps to chr12q23-24.
    Schüle R; Bonin M; Dürr A; Forlani S; Sperfeld AD; Klimpe S; Mueller JC; Seibel A; van de Warrenburg BP; Bauer P; Schöls L
    Neurology; 2009 Jun; 72(22):1893-8. PubMed ID: 19357379
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Refinement of the SPG9 locus on chromosome 10q23.3-24.2 and exclusion of candidate genes.
    Panza E; Pippucci T; Cusano R; Lo Nigro C; Pradella L; Contardi S; Rouleau GA; Stevanin G; Ravazzolo R; Liguori R; Montagna P; Romeo G; Seri M
    Eur J Neurol; 2008 May; 15(5):520-4. PubMed ID: 18394049
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.