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.
363 related articles for article (PubMed ID: 24969372)
1. 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]
2. 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]
3. 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]
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. 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]
6. 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]
7. 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]
9. 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]
10. 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]
11. SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years. Namekawa M; Ribai P; Nelson I; Forlani S; Fellmann F; Goizet C; Depienne C; Stevanin G; Ruberg M; Dürr A; Brice A Neurology; 2006 Jan; 66(1):112-4. PubMed ID: 16401858 [TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. 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]
15. 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]
16. Very early onset and severe complicated phenotype caused by a new spastic paraplegia 3A gene mutation. Fusco C; Frattini D; Farnetti E; Nicoli D; Casali B; Della Giustina E J Child Neurol; 2012 Oct; 27(10):1348-50. PubMed ID: 22378671 [TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia. Dürr A; Camuzat A; Colin E; Tallaksen C; Hannequin D; Coutinho P; Fontaine B; Rossi A; Gil R; Rousselle C; Ruberg M; Stevanin G; Brice A Arch Neurol; 2004 Dec; 61(12):1867-72. PubMed ID: 15596607 [TBL] [Abstract][Full Text] [Related]
20. Novel mutation in the SPG3A gene in an African American family with an early onset of hereditary spastic paraplegia. Hedera P; Fenichel GM; Blair M; Haines JL Arch Neurol; 2004 Oct; 61(10):1600-3. PubMed ID: 15477516 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]