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 *

239 related articles for article (PubMed ID: 24473461)

  • 1. Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation.
    Khan TN; Klar J; Tariq M; Anjum Baig S; Malik NA; Yousaf R; Baig SM; Dahl N
    Eur J Hum Genet; 2014 Oct; 22(10):1180-4. PubMed ID: 24473461
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A novel homozygous variant in ATL1 associated with early onset spastic paraplegia 3A: Further evidence for autosomal recessive inheritance.
    Darouich S; Darouich S
    Am J Med Genet A; 2024 Mar; 194(3):e63464. PubMed ID: 37927245
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia.
    Willkomm L; Heredia R; Hoffmann K; Wang H; Voit T; Hoffman EP; Cirak S
    J Hum Genet; 2016 Jun; 61(6):571-3. PubMed ID: 26888483
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Patients with complex and very-early-onset ATL1-related spastic paraplegia offer insights on genotype/phenotype correlations and support for autosomal recessive forms of SPG3A.
    Hamamie-Chaar A; Renaud M; Gençpinar P; Bruel AL; Philippe C; Maraval J; Racine C; Hadouiri N; Lambert L; Schmitt E; Banneau G; Hocquel A; Thauvin-Robinet C; Faivre L; Thomas Q
    J Neurol; 2024 Sep; 271(9):6343-6348. PubMed ID: 39003427
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia.
    Varga RE; Schüle R; Fadel H; Valenzuela I; Speziani F; Gonzalez M; Rudenskaia G; Nürnberg G; Thiele H; Altmüller J; Alvarez V; Gamez J; Garbern JY; Nürnberg P; Zuchner S; Beetz C
    Hum Mutat; 2013 Jun; 34(6):860-3. PubMed ID: 23483706
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Disease-Causing Variants in the ATL1 Gene Are a Rare Cause of Hereditary Spastic Paraplegia among Czech Patients.
    Mészárosová AU; Grečmalová D; Brázdilová M; Dvořáčková N; Kalina Z; Čermáková M; Vávrová D; Smetanová I; Staněk D; Seeman P
    Ann Hum Genet; 2017 Nov; 81(6):249-257. PubMed ID: 28736820
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Novel mutation in the ATL1 with autosomal dominant hereditary spastic paraplegia presented as dysautonomia.
    Shin JW; Jung KH; Lee ST; Moon J; Seong MW; Park SS; Lee SK; Chu K
    Auton Neurosci; 2014 Oct; 185():141-3. PubMed ID: 24969372
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutation analysis of four Chinese families with pure hereditary spastic paraplegia: pseudo- X-linked dominant inheritance and male lethality due to a novel ATL1 mutation.
    Zhao N; Sui Y; Li XF; Liu W; Lu YP; Feng WH; Ma C; Wang YW; Bao HX; Huang F; Wang H; Yi DX; Han WT; Jiang M
    Genet Mol Res; 2015 Nov; 14(4):14690-7. PubMed ID: 26600529
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.
    Alvarez V; Sánchez-Ferrero E; Beetz C; Díaz M; Alonso B; Corao AI; Gámez J; Esteban J; Gonzalo JF; Pascual-Pascual SI; López de Munain A; Moris G; Ribacoba R; Márquez C; Rosell J; Marín R; García-Barcina MJ; Del Castillo E; Benito C; Coto E;
    BMC Neurol; 2010 Oct; 10():89. PubMed ID: 20932283
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Clinical and genetic characterization of hereditary spastic paraplegia type 3A in Taiwan.
    Hsu SL; Hsueh HW; Chen SY; Chang YY; Tan S; Hong CT; Tsai YS; Yu KW; Wu HM; Liao YC; Soong BW; Hu CJ; Lan MY; Lee YC
    Parkinsonism Relat Disord; 2021 Jun; 87():87-91. PubMed ID: 34015694
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia.
    Rydning SL; Dudesek A; Rimmele F; Funke C; Krüger S; Biskup S; Vigeland MD; Hjorthaug HS; Sejersted Y; Tallaksen C; Selmer KK; Kamm C
    Eur J Neurol; 2018 Jul; 25(7):943-e71. PubMed ID: 29528531
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings.
    Polymeris AA; Tessa A; Anagnostopoulou K; Rubegni A; Galatolo D; Dinopoulos A; Gika AD; Youroukos S; Skouteli E; Santorelli FM; Pons R
    J Neurol; 2016 Aug; 263(8):1604-11. PubMed ID: 27260292
    [TBL] [Abstract][Full Text] [Related]  

  • 13. An autosomal dominant ERLIN2 mutation leads to a pure HSP phenotype distinct from the autosomal recessive ERLIN2 mutations (SPG18).
    Park JM; Lee B; Kim JH; Park SY; Yu J; Kim UK; Park JS
    Sci Rep; 2020 Feb; 10(1):3295. PubMed ID: 32094424
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutational spectrum of the SPAST and ATL1 genes in Korean patients with hereditary spastic paraplegia.
    Park H; Kang SH; Park S; Kim SY; Seo SH; Lee SJ; Lee JA; Cho SI; Sung JJ; Lee KW; Kim JY; Park SS; Seong MW
    J Neurol Sci; 2015 Oct; 357(1-2):167-72. PubMed ID: 26208798
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus.
    Sauter SM; Engel W; Neumann LM; Kunze J; Neesen J
    Hum Mutat; 2004 Jan; 23(1):98. PubMed ID: 14695538
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A.
    Abel A; Fonknechten N; Hofer A; Dürr A; Cruaud C; Voit T; Weissenbach J; Brice A; Klimpe S; Auburger G; Hazan J
    Neurogenetics; 2004 Dec; 5(4):239-43. PubMed ID: 15517445
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Hereditary spastic paraplegia: identification of an SPG3A gene mutation in a Chinese family.
    Chan KY; Ching CK; Mak CM; Lam CW; Chan AY
    Hong Kong Med J; 2009 Aug; 15(4):304-7. PubMed ID: 19652243
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Genetic analysis of SPG4 and SPG3A genes in a cohort of Chinese patients with hereditary spastic paraplegia.
    Lu X; Cen Z; Xie F; Ouyang Z; Zhang B; Zhao G; Luo W
    J Neurol Sci; 2014 Dec; 347(1-2):368-71. PubMed ID: 25454648
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mutational Spectrum of Spast (Spg4) and Atl1 (Spg3a) Genes In Russian Patients With Hereditary Spastic Paraplegia.
    Kadnikova VA; Rudenskaya GE; Stepanova AA; Sermyagina IG; Ryzhkova OP
    Sci Rep; 2019 Oct; 9(1):14412. PubMed ID: 31594988
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Pharmacologic rescue of axon growth defects in a human iPSC model of hereditary spastic paraplegia SPG3A.
    Zhu PP; Denton KR; Pierson TM; Li XJ; Blackstone C
    Hum Mol Genet; 2014 Nov; 23(21):5638-48. PubMed ID: 24908668
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.