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.
3. 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]
4. Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia. Svenstrup K; Bross P; Koefoed P; Hjermind LE; Eiberg H; Born AP; Vissing J; Gyllenborg J; Nørremølle A; Hasholt L; Nielsen JE J Neurol Sci; 2009 Sep; 284(1-2):90-5. PubMed ID: 19423133 [TBL] [Abstract][Full Text] [Related]
5. Description of clinical features and genetic analysis of one ultra-rare (SPG64) and two common forms (SPG5A and SPG15) of hereditary spastic paraplegia families. Pashaei M; Davarzani A; Hajati R; Zamani B; Nafissi S; Larti F; Nilipour Y; Rohani M; Alavi A J Neurogenet; 2021; 35(2):84-94. PubMed ID: 33771085 [TBL] [Abstract][Full Text] [Related]
6. Clinical and genetic findings in a series of Italian children with pure hereditary spastic paraplegia. Battini R; Fogli A; Borghetti D; Michelucci A; Perazza S; Baldinotti F; Conidi ME; Ferreri MI; Simi P; Cioni G Eur J Neurol; 2011 Jan; 18(1):150-7. PubMed ID: 20550563 [TBL] [Abstract][Full Text] [Related]
7. Mutation analysis of SPG4 and SPG3A genes and its implication in molecular diagnosis of Korean patients with hereditary spastic paraplegia. Park SY; Ki CS; Kim HJ; Kim JW; Sung DH; Kim BJ; Lee WY Arch Neurol; 2005 Jul; 62(7):1118-21. PubMed ID: 16009769 [TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78). Estrada-Cuzcano A; Martin S; Chamova T; Synofzik M; Timmann D; Holemans T; Andreeva A; Reichbauer J; De Rycke R; Chang DI; van Veen S; Samuel J; Schöls L; Pöppel T; Mollerup Sørensen D; Asselbergh B; Klein C; Zuchner S; Jordanova A; Vangheluwe P; Tournev I; Schüle R Brain; 2017 Feb; 140(2):287-305. PubMed ID: 28137957 [TBL] [Abstract][Full Text] [Related]
12. 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]
13. Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54). Gonzalez M; Nampoothiri S; Kornblum C; Oteyza AC; Walter J; Konidari I; Hulme W; Speziani F; Schöls L; Züchner S; Schüle R Eur J Hum Genet; 2013 Nov; 21(11):1214-8. PubMed ID: 23486545 [TBL] [Abstract][Full Text] [Related]
14. Stop-gain mutations in UBAP1 cause pure autosomal-dominant spastic paraplegia. Lin X; Su HZ; Dong EL; Lin XH; Zhao M; Yang C; Wang C; Wang J; Chen YJ; Yu H; Xu J; Ma LX; Xiong ZQ; Wang N; Chen WJ Brain; 2019 Aug; 142(8):2238-2252. PubMed ID: 31203368 [TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. NIPA1 mutation in complex hereditary spastic paraplegia with epilepsy. Svenstrup K; Møller RS; Christensen J; Budtz-Jørgensen E; Gilling M; Nielsen JE Eur J Neurol; 2011 Sep; 18(9):1197-9. PubMed ID: 21599812 [TBL] [Abstract][Full Text] [Related]
19. 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]
20. A Retrospective Review of 18 Patients With Childhood-Onset Hereditary Spastic Paraplegia, Nine With Novel Variants. Kilic MA; Yildiz EP; Deniz A; Coskun O; Kurekci F; Avci R; Genc HM; Yesil G; Akbas S; Yesilyurt A; Kara B Pediatr Neurol; 2024 Mar; 152():189-195. PubMed ID: 38301322 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]