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 *

177 related articles for article (PubMed ID: 36103453)

  • 1. Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST.
    Mo A; Saffari A; Kellner M; Döbler-Neumann M; Jordan C; Srivastava S; Zhang B; Sahin M; Fink JK; Smith L; Posey JE; Alter KE; Toro C; Blackstone C; Soldatos AG; Christie M; Schüle R; Ebrahimi-Fakhari D
    Mov Disord; 2022 Dec; 37(12):2440-2446. PubMed ID: 36103453
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A p.Arg499His mutation in SPAST is associated with infantile-onset complicated spastic paraplegia: a case report and review of the literature.
    Nan H; Shiraku H; Mizuno T; Takiyama Y
    BMC Neurol; 2021 Nov; 21(1):439. PubMed ID: 34753439
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Association of Early-Onset Spasticity and Risk for Cognitive Impairment With Mutations at Amino Acid 499 in SPAST.
    Gillespie MK; Humphreys P; McMillan HJ; Boycott KM
    J Child Neurol; 2018 Apr; 33(5):329-332. PubMed ID: 29421991
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A Japanese SPG4 Patient with a Confirmed De Novo Mutation of the SPAST Gene.
    Nan H; Okamoto K; Gao L; Morishima Y; Ichinose Y; Koh K; Hashiyada M; Adachi N; Takiyama Y
    Intern Med; 2020 Sep; 59(18):2311-2315. PubMed ID: 32522921
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [Atypical spastic paraplegia type 4 due to p.Arg499His mutation in SPAST gene].
    Rudenskaya GE; Shestopalova EA; Kadnikova VA; Shchagina OA
    Zh Nevrol Psikhiatr Im S S Korsakova; 2022; 122(3):117-120. PubMed ID: 35394730
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. A novel SPAST gene mutation identified in a Chinese family with hereditary spastic paraplegia.
    Yu W; Jin H; Deng J; Nan D; Huang Y
    BMC Med Genet; 2020 Jun; 21(1):123. PubMed ID: 32493220
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 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. 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]  

  • 11. A novel missense mutation in
    Wang XC; Liu RH; Wang T; Wang Y; Jiang Y; Chen DD; Wang XY; Hou TS; Kong QX
    Mol Med Rep; 2023 Apr; 27(4):. PubMed ID: 36825575
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Novel mutations in the SPAST gene cause hereditary spastic paraplegia.
    Zhu Z; Zhang C; Zhao G; Liu Q; Zhong P; Zhang M; Tang W; Zhan F; Tian W; Wang Y; Yin K; Huang X; Jiang J; Liu X; Liu S; Zhou H; Luan X; Tang H; Wang Y; Chen S; Cao L
    Parkinsonism Relat Disord; 2019 Dec; 69():125-133. PubMed ID: 31751864
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Spastic paraplegia type 4: A novel SPAST splice site donor mutation and expansion of the phenotype variability.
    Kawarai T; Montecchiani C; Miyamoto R; Gaudiello F; Caltagirone C; Izumi Y; Kaji R; Orlacchio A
    J Neurol Sci; 2017 Sep; 380():92-97. PubMed ID: 28870597
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.
    Saffari A; Kellner M; Jordan C; Rosengarten H; Mo A; Zhang B; Strelko O; Neuser S; Davis MY; Yoshikura N; Futamura N; Takeuchi T; Nabatame S; Ishiura H; Tsuji S; Aldeen HS; Cali E; Rocca C; Houlden H; Efthymiou S; Assmann B; Yoon G; Trombetta BA; Kivisäkk P; Eichler F; Nan H; Takiyama Y; Tessa A; Santorelli FM; Sahin M; Blackstone C; Yang E; Schüle R; Ebrahimi-Fakhari D
    Brain; 2023 May; 146(5):2003-2015. PubMed ID: 36315648
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. A complex form of hereditary spastic paraplegia in three siblings due to somatic mosaicism for a novel SPAST mutation in the mother.
    Aulitzky A; Friedrich K; Gläser D; Gastl R; Kubisch C; Ludolph AC; Volk AE
    J Neurol Sci; 2014 Dec; 347(1-2):352-5. PubMed ID: 25315759
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Genetic, structural and clinical analysis of spastic paraplegia 4.
    Varghaei P; Estiar MA; Ashtiani S; Veyron S; Mufti K; Leveille E; Yu E; Spiegelman D; Rioux MF; Yoon G; Tarnopolsky M; Boycott KM; Dupre N; Suchowersky O; Trempe JF; Rouleau GA; Gan-Or Z
    Parkinsonism Relat Disord; 2022 May; 98():62-69. PubMed ID: 35487127
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A p.Arg499His Mutation in SPAST Is Associated with Infantile Onset Ascending Spastic Paralysis Complicated with Dysarthria and Anarthria.
    Ogasawara M; Saito T; Koshimizu E; Akasaka N; Sasaki M
    Neuropediatrics; 2019 Dec; 50(6):391-394. PubMed ID: 31486053
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Truncating mutations in
    Chelban V; Tucci A; Lynch DS; Polke JM; Santos L; Jonvik H; Groppa S; Wood NW; Houlden H
    J Neurol Neurosurg Psychiatry; 2017 Aug; 88(8):681-687. PubMed ID: 28572275
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.