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.
23. 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]
24. 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]
25. 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]
26. [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]
27. 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]
28. 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]
29. 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]
30. 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]
31. 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]
33. 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]
34. 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]
35. 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]
36. 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]
37. 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]
38. 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]
39. 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]
40. 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] [Previous] [Next] [New Search]