BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

537 related articles for article (PubMed ID: 33155358)

  • 21. ALS2-related disorders in Spanish children.
    Nogueira E; Alarcón J; Garma C; Paredes C
    Neurol Sci; 2021 May; 42(5):2091-2094. PubMed ID: 33409823
    [TBL] [Abstract][Full Text] [Related]  

  • 22. A novel homozygous mutation in ALS2 gene in four siblings with infantile-onset ascending hereditary spastic paralysis.
    Eker HK; Unlü SE; Al-Salmi F; Crosby AH
    Eur J Med Genet; 2014; 57(6):275-8. PubMed ID: 24704789
    [TBL] [Abstract][Full Text] [Related]  

  • 23. The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings.
    Devon RS; Helm JR; Rouleau GA; Leitner Y; Lerman-Sagie T; Lev D; Hayden MR
    Clin Genet; 2003 Sep; 64(3):210-5. PubMed ID: 12919135
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Novel missense mutation in ALS2 gene results in infantile ascending hereditary spastic paralysis.
    Eymard-Pierre E; Yamanaka K; Haeussler M; Kress W; Gauthier-Barichard F; Combes P; Cleveland DW; Boespflug-Tanguy O
    Ann Neurol; 2006 Jun; 59(6):976-80. PubMed ID: 16718699
    [TBL] [Abstract][Full Text] [Related]  

  • 25. [Recessive motor neuron diseases: mutations in the ALS2 gene and molecular pathogenesis for the upper motor neurodegeneration].
    Ikeda JE
    Rinsho Shinkeigaku; 2004 Nov; 44(11):792-4. PubMed ID: 15651293
    [TBL] [Abstract][Full Text] [Related]  

  • 26. A novel mutation in the ALS2 gene in an iranian kurdish family with juvenile amyotrophic lateral sclerosis.
    Daneshmandpour Y; Bahmanpour Z; Kazeminasab S; Aghaei Moghadam E; Alehabib E; Chapi M; Tafakhori A; Aghaei N; Darvish H; Emamalizadeh B
    Amyotroph Lateral Scler Frontotemporal Degener; 2023 Feb; 24(1-2):148-151. PubMed ID: 35852402
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Exome Sequencing Identifies a Mutation (Y740C) in Spastic Paraplegia 7 Gene Associated with Adult-Onset Primary Lateral Sclerosis in a Chinese Family.
    Liu Y; Xu J; Tao W; Fu C; Liu J; Yu R; Zhang X
    Eur Neurol; 2019; 81(1-2):87-93. PubMed ID: 31117107
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis.
    Hand CK; Devon RS; Gros-Louis F; Rochefort D; Khoris J; Meininger V; Bouchard JP; Camu W; Hayden MR; Rouleau GA
    Arch Neurol; 2003 Dec; 60(12):1768-71. PubMed ID: 14676054
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Unstable mutants in the peripheral endosomal membrane component ALS2 cause early-onset motor neuron disease.
    Yamanaka K; Vande Velde C; Eymard-Pierre E; Bertini E; Boespflug-Tanguy O; Cleveland DW
    Proc Natl Acad Sci U S A; 2003 Dec; 100(26):16041-6. PubMed ID: 14668431
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Novel homozygous ALS2 nonsense mutation (p.Gln715X) in sibs with infantile-onset ascending spastic paralysis: the first cases from northwestern Europe.
    Verschuuren-Bemelmans CC; Winter P; Sival DA; Elting JW; Brouwer OF; Müller U
    Eur J Hum Genet; 2008 Nov; 16(11):1407-11. PubMed ID: 18523452
    [TBL] [Abstract][Full Text] [Related]  

  • 31. ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia.
    Sheerin UM; Schneider SA; Carr L; Deuschl G; Hopfner F; Stamelou M; Wood NW; Bhatia KP
    Neurology; 2014 Mar; 82(12):1065-7. PubMed ID: 24562058
    [TBL] [Abstract][Full Text] [Related]  

  • 32. A novel splice-site mutation in ALS2 establishes the diagnosis of juvenile amyotrophic lateral sclerosis in a family with early onset anarthria and generalized dystonias.
    Siddiqi S; Foo JN; Vu A; Azim S; Silver DL; Mansoor A; Tay SK; Abbasi S; Hashmi AH; Janjua J; Khalid S; Tai ES; Yeo GW; Khor CC
    PLoS One; 2014; 9(12):e113258. PubMed ID: 25474699
    [TBL] [Abstract][Full Text] [Related]  

  • 33. ALS2-Related Motor Neuron Diseases: From Symptoms to Molecules.
    Miceli M; Exertier C; Cavaglià M; Gugole E; Boccardo M; Casaluci RR; Ceccarelli N; De Maio A; Vallone B; Deriu MA
    Biology (Basel); 2022 Jan; 11(1):. PubMed ID: 35053075
    [TBL] [Abstract][Full Text] [Related]  

  • 34. A novel ALS2 splice-site mutation in a Cypriot juvenile-onset primary lateral sclerosis family.
    Mintchev N; Zamba-Papanicolaou E; Kleopa KA; Christodoulou K
    Neurology; 2009 Jan; 72(1):28-32. PubMed ID: 19122027
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Novel FUS deletion in a patient with juvenile amyotrophic lateral sclerosis.
    Belzil VV; Langlais JS; Daoud H; Dion PA; Brais B; Rouleau GA
    Arch Neurol; 2012 May; 69(5):653-6. PubMed ID: 22248478
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Alsin, the product of ALS2 gene, suppresses SOD1 mutant neurotoxicity through RhoGEF domain by interacting with SOD1 mutants.
    Kanekura K; Hashimoto Y; Niikura T; Aiso S; Matsuoka M; Nishimoto I
    J Biol Chem; 2004 Apr; 279(18):19247-56. PubMed ID: 14970233
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Astrocytic protection of spinal motor neurons but not cortical neurons against loss of Als2/alsin function.
    Jacquier A; Bellouze S; Blanchard S; Bohl D; Haase G
    Hum Mol Genet; 2009 Jun; 18(12):2127-39. PubMed ID: 19304783
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Altered oligomeric states in pathogenic ALS2 variants associated with juvenile motor neuron diseases cause loss of ALS2-mediated endosomal function.
    Sato K; Otomo A; Ueda MT; Hiratsuka Y; Suzuki-Utsunomiya K; Sugiyama J; Murakoshi S; Mitsui S; Ono S; Nakagawa S; Shang HF; Hadano S
    J Biol Chem; 2018 Nov; 293(44):17135-17153. PubMed ID: 30224357
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Amyotrophic lateral sclerosis 2-deficiency leads to neuronal degeneration in amyotrophic lateral sclerosis through altered AMPA receptor trafficking.
    Lai C; Xie C; McCormack SG; Chiang HC; Michalak MK; Lin X; Chandran J; Shim H; Shimoji M; Cookson MR; Huganir RL; Rothstein JD; Price DL; Wong PC; Martin LJ; Zhu JJ; Cai H
    J Neurosci; 2006 Nov; 26(45):11798-806. PubMed ID: 17093100
    [TBL] [Abstract][Full Text] [Related]  

  • 40. The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis.
    Yang Y; Hentati A; Deng HX; Dabbagh O; Sasaki T; Hirano M; Hung WY; Ouahchi K; Yan J; Azim AC; Cole N; Gascon G; Yagmour A; Ben-Hamida M; Pericak-Vance M; Hentati F; Siddique T
    Nat Genet; 2001 Oct; 29(2):160-5. PubMed ID: 11586297
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 27.