BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

380 related articles for article (PubMed ID: 17100993)

  • 21. Hereditary spastic paraplegia: clinical genetic study of 15 families.
    Orlacchio A; Kawarai T; Totaro A; Errico A; St George-Hyslop PH; Rugarli EI; Bernardi G
    Arch Neurol; 2004 Jun; 61(6):849-55. PubMed ID: 15210521
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Isoform-specific increase of spastin stability by N-terminal missense variants including intragenic modifiers of SPG4 hereditary spastic paraplegia.
    Schickel J; Pamminger T; Ehrsam A; Münch S; Huang X; Klopstock T; Kurlemann G; Hemmerich P; Dubiel W; Deufel T; Beetz C
    Eur J Neurol; 2007 Dec; 14(12):1322-8. PubMed ID: 17916079
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations.
    Svenson IK; Kloos MT; Gaskell PC; Nance MA; Garbern JY; Hisanaga S; Pericak-Vance MA; Ashley-Koch AE; Marchuk DA
    Neurogenetics; 2004 Sep; 5(3):157-64. PubMed ID: 15248095
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 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]  

  • 25. Autosomal dominant (AD) pure spastic paraplegia (HSP) linked to locus SPG4 affects almost exclusively males in a large pedigree.
    Starling A; Rocco P; Passos-Bueno MR; Hazan J; Marie SK; Zatz M
    J Med Genet; 2002 Dec; 39(12):e77. PubMed ID: 12471215
    [No Abstract]   [Full Text] [Related]  

  • 26. Mental deficiency in three families with SPG4 spastic paraplegia.
    Ribaï P; Depienne C; Fedirko E; Jothy AC; Viveweger C; Hahn-Barma V; Brice A; Durr A
    Eur J Hum Genet; 2008 Jan; 16(1):97-104. PubMed ID: 17957230
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia.
    Depienne C; Fedirko E; Forlani S; Cazeneuve C; Ribaï P; Feki I; Tallaksen C; Nguyen K; Stankoff B; Ruberg M; Stevanin G; Durr A; Brice A
    J Med Genet; 2007 Apr; 44(4):281-4. PubMed ID: 17098887
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Clinical and genetic analysis of four Taiwanese families with autosomal dominant hereditary spastic paraplegia.
    Lan MY; Fu SC; Chang YY; Wu-Chou YH; Lai SC; Chen RS; Lu CS
    J Formos Med Assoc; 2012 Jul; 111(7):380-5. PubMed ID: 22817815
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Spastin mutation screening in Chinese patients with pure hereditary spastic paraplegia.
    Wei QQ; Chen Y; Zheng ZZ; Chen X; Huang R; Yang Y; Burgunder J; Shang HF
    Parkinsonism Relat Disord; 2014 Aug; 20(8):845-9. PubMed ID: 24824479
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Evaluation of loss of function as an explanation for SPG4-based hereditary spastic paraplegia.
    Solowska JM; Garbern JY; Baas PW
    Hum Mol Genet; 2010 Jul; 19(14):2767-79. PubMed ID: 20430936
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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]  

  • 32. Hereditary spastic paraplegias.
    Lau KK; Ching CK; Mak CM; Chan YW
    Hong Kong Med J; 2009 Jun; 15(3):217-20. PubMed ID: 19494379
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Four mutations of the spastin gene in Japanese families with spastic paraplegia.
    Basri R; Yabe I; Soma H; Takei A; Nishimura H; Machino Y; Kokubo Y; Kosugi M; Okada R; Yukitake M; Tachibana H; Kuroda Y; Kuzuhara S; Sasaki H
    J Hum Genet; 2006; 51(8):711-715. PubMed ID: 16788734
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.
    Fonknechten N; Mavel D; Byrne P; Davoine CS; Cruaud C; Bönsch D; Samson D; Coutinho P; Hutchinson M; McMonagle P; Burgunder JM; Tartaglione A; Heinzlef O; Feki I; Deufel T; Parfrey N; Brice A; Fontaine B; Prud'homme JF; Weissenbach J; Dürr A; Hazan J
    Hum Mol Genet; 2000 Mar; 9(4):637-44. PubMed ID: 10699187
    [TBL] [Abstract][Full Text] [Related]  

  • 35. A novel missense mutation (I344K) in the SPG4gene in a Korean family with autosomal-dominant hereditary spastic paraplegia.
    Ki CS; Lee WY; Han DH; Sung DH; Lee KB; Lee KA; Cho SS; Cho S; Hwang H; Sohn KM; Choi YJ; Kim JW
    J Hum Genet; 2002; 47(9):473-7. PubMed ID: 12202986
    [TBL] [Abstract][Full Text] [Related]  

  • 36. High frequency of SPG4 in Taiwanese families with autosomal dominant hereditary spastic paraplegia.
    Lan MY; Chang YY; Yeh TH; Lai SC; Liou CW; Kuo HC; Wu YR; Lyu RK; Hung JW; Chang YC; Lu CS
    BMC Neurol; 2014 Nov; 14():216. PubMed ID: 25421405
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 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]  

  • 38. Two novel mutations in the Spastin gene of Chinese patients with hereditary spastic paraplegia.
    Fei QZ; Tang WG; Rong TY; Tang HD; Liu JR; Guo ZL; Fu Y; Xiao Q; Wang XJ; He SB; Cao L; Chen SD
    Eur J Neurol; 2011 Sep; 18(9):1194-6. PubMed ID: 21834905
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Autosomal dominant hereditary spastic paraplegia: report of a large Italian family with R581X spastin mutation.
    Aridon P; Ragonese P; De Fusco M; Lo Coco D; Salemi G; Casari G; Savettieri G
    Neurol Sci; 2007 Aug; 28(4):171-4. PubMed ID: 17690846
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Spastic paraplegia in Romania: high prevalence of SPG4 mutations.
    Orlacchio A; Patrono C; Borreca A; Babalini C; Bernardi G; Kawarai T
    J Neurol Neurosurg Psychiatry; 2008 May; 79(5):606-7. PubMed ID: 17971434
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 19.