185 related articles for article (PubMed ID: 37251230)
1. Genetic and clinical features of pediatric-onset hereditary spastic paraplegia: a single-center study in Japan.
Ikeda A; Kumaki T; Tsuyusaki Y; Tsuji M; Enomoto Y; Fujita A; Saitsu H; Matsumoto N; Kurosawa K; Goto T
Front Neurol; 2023; 14():1085228. PubMed ID: 37251230
[TBL] [Abstract][Full Text] [Related]
2. The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes.
Travaglini L; Aiello C; Stregapede F; D'Amico A; Alesi V; Ciolfi A; Bruselles A; Catteruccia M; Pizzi S; Zanni G; Loddo S; Barresi S; Vasco G; Tartaglia M; Bertini E; Nicita F
Neurogenetics; 2018 May; 19(2):111-121. PubMed ID: 29691679
[TBL] [Abstract][Full Text] [Related]
3. Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network.
Rossi S; Rubegni A; Riso V; Barghigiani M; Bassi MT; Battini R; Bertini E; Cereda C; Cioffi E; Criscuolo C; Dal Fabbro B; Dato C; D'Angelo MG; Di Muzio A; Diamanti L; Dotti MT; Filla A; Gioiosa V; Liguori R; Martinuzzi A; Massa R; Mignarri A; Moroni R; Musumeci O; Nicita F; Orologio I; Orsi L; Pegoraro E; Petrucci A; Plumari M; Ricca I; Rizzo G; Romano S; Rumore R; Sampaolo S; Scarlato M; Seri M; Stefan C; Straccia G; Tessa A; Travaglini L; Trovato R; Ulgheri L; Vazza G; Orlacchio A; Silvestri G; Santorelli FM; Melone MAB; Casali C
Neurol Genet; 2022 Apr; 8(2):e664. PubMed ID: 35372684
[TBL] [Abstract][Full Text] [Related]
4. Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia.
Méreaux JL; Banneau G; Papin M; Coarelli G; Valter R; Raymond L; Kol B; Ariste O; Parodi L; Tissier L; Mairey M; Ait Said S; Gautier C; Guillaud-Bataille M; ; Forlani S; de la Grange P; Brice A; Vazza G; Durr A; Leguern E; Stevanin G
Brain; 2022 Apr; 145(3):1029-1037. PubMed ID: 34983064
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes.
Elert-Dobkowska E; Stepniak I; Krysa W; Ziora-Jakutowicz K; Rakowicz M; Sobanska A; Pilch J; Antczak-Marach D; Zaremba J; Sulek A
Neurogenetics; 2019 Mar; 20(1):27-38. PubMed ID: 30778698
[TBL] [Abstract][Full Text] [Related]
8. Anticipation Can Be More Common in Hereditary Spastic Paraplegia with
Hashemi SS; Hajati R; Davarzani A; Rohani M; DanaeeFard F; Rahimi Bidgoli MM; Fatehi F; Kariminejad A; Najmabadi H; Nafissi S; Alavi A
Can J Neurol Sci; 2022 Sep; 49(5):651-661. PubMed ID: 34353391
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. The investigation of genetic and clinical features in patients with hereditary spastic paraplegia in central-Southern China.
Wang C; Zhang YJ; Xu CH; Li D; Liu ZJ; Wu Y
Mol Genet Genomic Med; 2021 May; 9(5):e1627. PubMed ID: 33638609
[TBL] [Abstract][Full Text] [Related]
11. Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands.
Balicza P; Grosz Z; Gonzalez MA; Bencsik R; Pentelenyi K; Gal A; Varga E; Klivenyi P; Koller J; Züchner S; Molnar JM
J Neurol Sci; 2016 May; 364():116-21. PubMed ID: 27084228
[TBL] [Abstract][Full Text] [Related]
12. A novel variant of
Shen T; Zhang W; Li L; Zuo RX; Wang ZJ; Xiao T; Zheng KW
Ann Transl Med; 2022 Jan; 10(2):67. PubMed ID: 35282124
[TBL] [Abstract][Full Text] [Related]
13. Childhood-Onset Hereditary Spastic Paraplegia (HSP): A Case Series and Review of Literature.
Panwala TF; Garcia-Santibanez R; Vizcarra JA; Garcia AG; Verma S
Pediatr Neurol; 2022 May; 130():7-13. PubMed ID: 35303589
[TBL] [Abstract][Full Text] [Related]
14. Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients.
Elert-Dobkowska E; Stepniak I; Krysa W; Rajkiewicz M; Rakowicz M; Sobanska A; Rudzinska M; Wasielewska A; Pilch J; Kubalska J; Lipczynska-Lojkowska W; Kulczycki J; Kurdziel K; Sikorska A; Beetz C; Zaremba J; Sulek A
J Neurol Sci; 2015 Dec; 359(1-2):35-9. PubMed ID: 26671083
[TBL] [Abstract][Full Text] [Related]
15. Clinical and genetic aspects of hereditary spastic paraplegia in patients from Turkey.
Akçakaya NH; Özeş Ak B; Gonzalez MA; Züchner S; Battaloğlu E; Parman Y
Neurol Neurochir Pol; 2020; 54(2):176-184. PubMed ID: 32242913
[TBL] [Abstract][Full Text] [Related]
16. Clinical Features and Genetic Spectrum of Patients With Clinically Suspected Hereditary Progressive Spastic Paraplegia.
Shi Y; Wang A; Chen B; Wang X; Niu S; Li W; Li S; Zhang Z
Front Neurol; 2022; 13():872927. PubMed ID: 35572931
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Early onset disease, anarthria, areflexia, and dystonia can be the distinctive features of SPG64, a very rare form of hereditary spastic paraplegias.
Ölmez A; Çetin GO; Karaer K
Am J Med Genet A; 2022 Sep; 188(9):2712-2717. PubMed ID: 35758610
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. A Complex Phenotype of a Patient with Spastic Paraplegia Type 4 Caused by a Novel Pathogenic Variant in the
Akaba Y; Takeguchi R; Tanaka R; Takahashi S
Case Rep Neurol; 2021; 13(3):763-771. PubMed ID: 35082646
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
