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 *

552 related articles for article (PubMed ID: 33155358)

  • 1. Genotype-phenotype correlation in seven motor neuron disease families with novel ALS2 mutations.
    Sprute R; Jergas H; Ölmez A; Alawbathani S; Karasoy H; Dafsari HS; Becker K; Daimagüler HS; Nürnberg P; Muntoni F; Topaloglu H; Uyanik G; Cirak S
    Am J Med Genet A; 2021 Feb; 185(2):344-354. PubMed ID: 33155358
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene.
    Eymard-Pierre E; Lesca G; Dollet S; Santorelli FM; di Capua M; Bertini E; Boespflug-Tanguy O
    Am J Hum Genet; 2002 Sep; 71(3):518-27. PubMed ID: 12145748
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C>T.
    Wakil SM; Ramzan K; Abuthuraya R; Hagos S; Al-Dossari H; Al-Omar R; Murad H; Chedrawi A; Al-Hassnan ZN; Finsterer J; Bohlega S
    Gene; 2014 Feb; 536(1):217-20. PubMed ID: 24315819
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Clinical presentation and natural history of infantile-onset ascending spastic paralysis from three families with an ALS2 founder variant.
    Helal M; Mazaheri N; Shalbafan B; Malamiri RA; Dilaver N; Buchert R; Mohammadiasl J; Golchin N; Sedaghat A; Mehrjardi MYV; Haack TB; Riess O; Chung WK; Galehdari H; Shariati G; Maroofian R
    Neurol Sci; 2018 Nov; 39(11):1917-1925. PubMed ID: 30128655
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegia.
    Daud S; Kakar N; Goebel I; Hashmi AS; Yaqub T; Nürnberg G; Nürnberg P; Morris-Rosendahl DJ; Wasim M; Volk AE; Kubisch C; Ahmad J; Borck G
    Amyotroph Lateral Scler Frontotemporal Degener; 2016; 17(3-4):260-5. PubMed ID: 26751646
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The expanding clinical and genetic spectrum of alsin-related disorders: the first cohort of Brazilian patients.
    Alves De Siqueira Carvalho A; Antônio Troccoli Chieia M; Braga Farias I; Bulle Oliveira AS; Pinto WBVR; Souza PVS
    Amyotroph Lateral Scler Frontotemporal Degener; 2022 Feb; 23(1-2):16-24. PubMed ID: 34738851
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological function.
    Panzeri C; De Palma C; Martinuzzi A; Daga A; De Polo G; Bresolin N; Miller CC; Tudor EL; Clementi E; Bassi MT
    Brain; 2006 Jul; 129(Pt 7):1710-9. PubMed ID: 16670179
    [TBL] [Abstract][Full Text] [Related]  

  • 8. ALS2/alsin knockout mice and motor neuron diseases.
    Cai H; Shim H; Lai C; Xie C; Lin X; Yang WJ; Chandran J
    Neurodegener Dis; 2008; 5(6):359-66. PubMed ID: 18714162
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Clinical and molecular spectrum of a large Egyptian cohort with ALS2-related disorders of infantile-onset of clinical continuum IAHSP/JPLS.
    Zaki MS; Sharaf-Eldin WE; Rafat K; Elbendary HM; Kamel M; Elkhateeb N; Noureldeen MM; Abdeltawab MA; Sadek AA; Essawi ML; Lau T; Murphy D; Abdel-Hamid MS; Holuden H; Issa MY; Gleeson JG
    Clin Genet; 2023 Aug; 104(2):238-244. PubMed ID: 37055917
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families.
    Lesca G; Eymard-Pierre E; Santorelli FM; Cusmai R; Di Capua M; Valente EM; Attia-Sobol J; Plauchu H; Leuzzi V; Ponzone A; Boespflug-Tanguy O; Bertini E
    Neurology; 2003 Feb; 60(4):674-82. PubMed ID: 12601111
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Absence of alsin function leads to corticospinal motor neuron vulnerability via novel disease mechanisms.
    Gautam M; Jara JH; Sekerkova G; Yasvoina MV; Martina M; Özdinler PH
    Hum Mol Genet; 2016 Mar; 25(6):1074-87. PubMed ID: 26755825
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A novel mutation in ALS2 associated with severe and progressive infantile onset of spastic paralysis.
    Tariq H; Mukhtar S; Naz S
    J Neurogenet; 2017; 31(1-2):26-29. PubMed ID: 28502191
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Are alsin and spartin novel interaction partners?
    Çobanoğlu G; Ozansoy M; Başak AN
    Biochem Biophys Res Commun; 2012 Oct; 427(1):1-4. PubMed ID: 22982304
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Clinical features and molecular genetic investigation of infantile-onset ascending hereditary spastic paralysis (IAHSP) in two Chinese siblings caused by a novel splice site ALS2 variation.
    Zhang Q; Yang Q; Luo J; Zhou X; Yi S; Tan S; Qin Z
    BMC Med Genomics; 2024 Jan; 17(1):44. PubMed ID: 38297306
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Molecular and cellular function of ALS2/alsin: implication of membrane dynamics in neuronal development and degeneration.
    Hadano S; Kunita R; Otomo A; Suzuki-Utsunomiya K; Ikeda JE
    Neurochem Int; 2007; 51(2-4):74-84. PubMed ID: 17566607
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Progressive spinal axonal degeneration and slowness in ALS2-deficient mice.
    Yamanaka K; Miller TM; McAlonis-Downes M; Chun SJ; Cleveland DW
    Ann Neurol; 2006 Jul; 60(1):95-104. PubMed ID: 16802286
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Phenotype and Genotype of Children with ALS2 gene-Related Disorder.
    Yoganathan S; Kumar M; Aaron R; Rangan SR; Umakant BS; Thomas M; Oommen SP; Danda S
    Neuropediatrics; 2024 Oct; ():. PubMed ID: 39424348
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Alsin and the molecular pathways of amyotrophic lateral sclerosis.
    Chandran J; Ding J; Cai H
    Mol Neurobiol; 2007 Dec; 36(3):224-31. PubMed ID: 17955197
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Infantile-onset ascending hereditary spastic paralysis: a case report and brief literature review.
    Racis L; Tessa A; Pugliatti M; Storti E; Agnetti V; Santorelli FM
    Eur J Paediatr Neurol; 2014 Mar; 18(2):235-9. PubMed ID: 24144828
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 28.