| 1 | ALS1, SOD1
|
| Altered SOD1 maturation and post-translational modification in amyotrophic lateral sclerosis spinal cord
|
| Trist BG, Genoud S, Roudeau S, Rookyard A, Abdeen A, Cottam V, Hare DJ, White M, Altvater J, Fifita JA, Hogan A, Grima N, Blair IP, Kysenius K, Crouch PJ, Carmona A, Rufin Y, Claverol S, Van Malderen S, Falkenberg G, Paterson DJ, Smith B, Troakes C, Vance C, Shaw CE, Al-Sarraj S, Cordwell S, Halliday G, Ortega R, Double KL.
|
| Brain. Sep 14;145(9):3108-3130. doi: 10.1093/brain/awac165 2022
|
| 2 | ALS1, SOD1
|
| Structural Properties and Interaction Partners of Familial ALS-Associated SOD1 Mutants
|
| Huai J, Zhang Z.
|
| Front Neurol. May 21;10:527. doi: 10.3389/fneur.2019.00527. 2019
|
| 3 | ALS1, SOD1
|
| Disease Mechanisms in ALS: Misfolded SOD1 Transferred Through Exosome-Dependent and Exosome-Independent Pathways
|
| Silverman JM, Fernando SM, Grad LI, Hill AF, Turner BJ, Yerbury JJ, Cashman NR.
|
| Cell Mol Neurobiol. Apr;36(3):377-81. doi: 10.1007/s10571-015-0294-3. Epub 2016 Feb 23 2016
|
| 4 | ALS1, SOD1
|
| SOD1 misplacing and mitochondrial dysfunction in amyotrophic lateral sclerosis pathogenesis
|
| Tafuri F, Ronchi D, Magri F, Comi GP, Corti S.
|
| Front Cell Neurosci. Aug 25;9:336. doi: 10.3389/fncel.2015.00336. 2015
|
| 5 | ALS1, SOD1
|
| Mitochondrial damage revealed by immunoselection for ALS-linked misfolded SOD1.
|
| Pickles S, Destroismaisons L, Peyrard SL, Cadot S, Rouleau GA, Brown RH Jr, Julien JP, Arbour N, Vande Velde C.
|
| Hum Mol Genet 22(19):3947-59. doi: 10.1093/hmg/ddt249. Epub 2013 Jun 4.
2013
|
| 6 | ALS1, SOD1
|
| Disulfide scrambling describes the oligomer formation of superoxide dismutase (SOD1) proteins in the familial form of amyotrophic lateral sclerosis.
|
| Toichi K, Yamanaka K, Furukawa Y.
|
| J Biol Chem 288(7):4970-80. doi: 10.1074/jbc.M112.414235. Epub 2012 Dec 21.
2013
|
| 7 | ALS1, CCS, SOD1
|
| Effect of CCS on the accumulation of FALS SOD1 mutant-containing aggregates and on mitochondrial translocation of SOD1 mutants: implication of a free radical hypothesis.
|
| Kim HK, Chung YW, Chock PB, Yim MB.
|
| Arch Biochem Biophys 509(2):177-85. doi: 10.1016/j.abb.2011.02.014. Epub 2011 Feb 24.
2011
|
| 8 | ALS1, SOD1
|
| Skeletal muscle-restricted expression of human SOD1 causes motor neuron degeneration in transgenic mice.
|
| Wong M, Martin LJ.
|
| Hum Mol Genet 19(11):2284-302. Epub 2010 Mar 10.PMID: 20223753 2010
|
| 9 | ALS1, SOD1
|
| Mutation-dependent polymorphism of Cu,Zn-superoxide dismutase aggregates in the familial form of amyotrophic lateral sclerosis.
|
| Furukawa Y, Kaneko K, Yamanaka K, Nukina N.
|
| J Biol Chem 285(29):22221-31. Epub 2010 Apr 19.PMID: 20404329 2010
|
| 10 | ALS1, ALS10, ALS6, ALS8, ALS9, ANG, FUS, SOD1, TARDBP, VAPB
|
| SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations.
|
| Millecamps S, Salachas F, Cazeneuve C, Gordon P, Bricka B, Camuzat A, Guillot-Noël L, Russaouen O, Bruneteau G, Pradat PF, Le Forestier N, Vandenberghe N, Danel-Brunaud V, Guy N, Thauvin-Robinet C, Lacomblez L, Couratier P, Hannequin D, Seilhean D, Le Ber I, Corcia P, Camu W, Brice A, Rouleau G, LeGuern E, Meininger V.
|
| J Med Genet 47(8):554-60. Epub 2010 Jun 24.PMID: 20577002 2010
|
| 11 | ALS1, BCL2, SOD1
|
| ALS-linked mutant SOD1 damages mitochondria by promoting conformational changes in Bcl-2.
|
| Pedrini S, Sau D, Guareschi S, Bogush M, Brown RH Jr, Naniche N, Kia A, Trotti D, Pasinelli P.
|
| Hum Mol Genet 19(15):2974-86. Epub 2010 May 11.PMID: 20460269 2010
|
| 12 | ALS1, SOD1
|
| A novel SOD1 splice site mutation associated with familial ALS revealed by SOD activity analysis.
|
| Birve A, Neuwirth C, Weber M, Marklund SL, Nilsson AC, Jonsson PA, Andersen PM.
|
| Hum Mol Genet 19(21):4201-6. Epub 2010 Aug 13.
2010
|
| 13 | ALS1, SOD1
|
| Deficits in axonal transport precede ALS symptoms in vivo.
|
| Bilsland LG, Sahai E, Kelly G, Golding M, Greensmith L, Schiavo G.
|
| Proc Natl Acad Sci U S A 107(47):20523-8. Epub 2010 Nov 8.
2010
|
| 14 | ALS1, SOD1
|
| ALS-linked mutant superoxide dismutase 1 (SOD1) alters mitochondrial protein composition and decreases protein import.
|
| Li Q, Vande Velde C, Israelson A, Xie J, Bailey AO, Dong MQ, Chun SJ, Roy T, Winer L, Yates JR, Capaldi RA, Cleveland DW, Miller TM.
|
| Proc Natl Acad Sci U S A 107(49):21146-51. Epub 2010 Nov 15.
2010
|
| 15 | ALS1, SOD1
|
| SOD1 and cognitive dysfunction in familial amyotrophic lateral sclerosis.
|
| Wicks P, Abrahams S, Papps B, Al-Chalabi A, Shaw CE, Leigh PN, Goldstein LH.
|
| J Neurol 256(2):234-41. Epub 2009 Mar 1.
2009
|
| 16 | ALS1, SOD1
|
| Functional features cause misfolding of the ALS-provoking enzyme SOD1.
|
| Nordlund A, Leinartaite L, Saraboji K, Aisenbrey C, Gröbner G, Zetterström P, Danielsson J, Logan DT, Oliveberg M.
|
| Proc Natl Acad Sci U S A 106(24):9667-72. Epub 2009 Jun 2.
2009
|
| 17 | ALS1, SOD1
|
| Familial amyotrophic lateral sclerosis-linked mutant SOD1 aberrantly interacts with tubulin.
|
| Kabuta T, Kinugawa A, Tsuchiya Y, Kabuta C, Setsuie R, Tateno M, Araki T, Wada K.
|
| Biochem Biophys Res Commun 387(1):121-6. Epub 2009 Jul 1.PMID: 19576169 2009
|
| 18 | ALS1, SOD1
|
| Variation in aggregation propensities among ALS-associated variants of SOD1: correlation to human disease.
|
| Prudencio M, Hart PJ, Borchelt DR, Andersen PM.
|
| Hum Mol Genet 18(17):3217-26. Epub 2009 May 30.PMID: 19483195 2009
|
| 19 | ALS1, SOD1
|
| Complete loss of post-translational modifications triggers fibrillar aggregation of SOD1 in the familial form of amyotrophic lateral sclerosis.
|
| Furukawa Y, Kaneko K, Yamanaka K, O'Halloran TV, Nukina N.
|
| J Biol Chem 283(35):24167-76. Epub 2008 Jun 13.
2008
|
| 20 | ALS1, ASK1, SOD1
|
| ALS-linked mutant SOD1 induces ER stress- and ASK1-dependent motor neuron death by targeting Derlin-1.
|
| Nishitoh H, Kadowaki H, Nagai A, Maruyama T, Yokota T, Fukutomi H, Noguchi T, Matsuzawa A, Takeda K, Ichijo H.
|
| Genes Dev 22(11):1451-64.
2008
|
| 21 | ALS1, SOD1
|
| ALS-causing SOD1 mutants generate vascular changes prior to motor neuron degeneration.
|
| Zhong Z, Deane R, Ali Z, Parisi M, Shapovalov Y, O'Banion MK, Stojanovic K, Sagare A, Boillee S, Cleveland DW, Zlokovic BV.
|
| Nat Neurosci 11(4):420-2. Epub 2008 Mar 16. 2008
|
| 22 | ALS1, SOD1
|
| SOD1 mutations disrupt redox-sensitive Rac regulation of NADPH oxidase in a familial ALS model.
|
| Harraz MM, Marden JJ, Zhou W, Zhang Y, Williams A, Sharov VS, Nelson K, Luo M, Paulson H, Schöneich C, Engelhardt JF.
|
| J Clin Invest 118(2):659-70.PMID: 1821939 2008
|
| 23 | ALS1, SOD1
|
| Familial amyotrophic lateral sclerosis with Gly93Ser mutation in Cu/Zn superoxide dismutase: a clinical and neuropathological study.
|
| Suzuki M, Irie T, Watanabe T, Mikami H, Yamazaki T, Oyanagi K, Ono S.
|
| J Neurol Sci 268(1-2):140-4. Epub 2008 Jan 14.PMID: 18191946 2008
|
| 24 | ALS1,SOD1
|
| Disease-associated mutations at copper ligand histidine residues of superoxide dismutase 1 diminish the binding of copper and compromise dimer stability.
|
| Wang J, Caruano-Yzermans A, Rodriguez A, Scheurmann JP, Slunt HH, Cao X, Gitlin J, Hart PJ, Borchelt DR.
|
| J Biol Chem 282(1):345-52. Epub 2006 Nov 8. 2007
|
| 25 | ALS1,SOD1
|
| Mutation of SOD1 in ALS: a gain of a loss of function.
|
| Sau D, De Biasi S, Vitellaro-Zuccarello L, Riso P, Guarnieri S, Porrini M, Simeoni S, Crippa V, Onesto E, Palazzolo I, Rusmini P, Bolzoni E, Bendotti C, Poletti A.
|
| Hum Mol Genet 16(13):1604-18. Epub 2007 May 15. 2007
|
| 26 | SOD1, ALS1
|
| Amyotrophic lateral sclerosis-associated copper/zinc superoxide dismutase mutations preferentially reduce the repulsive charge of the proteins.
|
| Sandelin E, Nordlund A, Andersen PM, Marklund SS, Oliveberg M.
|
| J Biol Chem 282(29):21230-6. Epub 2007 May 18. 2007
|
| 27 | SOD1, ALS1
|
| Familial amyotrophic lateral sclerosis-linked SOD1 mutants perturb fast axonal transport to reduce axonal mitochondria content.
|
| De Vos KJ, Chapman AL, Tennant ME, Manser C, Tudor EL, Lau KF, Brownlees J, Ackerley S, Shaw PJ, McLoughlin DM, Shaw CE, Leigh PN, Miller CC, Grierson AJ.
|
| Hum Mol Genet 16(22):2720-8. Epub 2007 Aug 28. 2007
|
| 28 | ALS1, SOD1
|
| Analysis of a genetic defect in the TATA box of the SOD1 gene in a patient with familial amyotrophic lateral sclerosis.
|
| Niemann S, Broom WJ, Brown RH Jr.
|
| Muscle Nerve 36(5):704-7.PMID: 17636481 2007
|
| 29 | ALS1, SOD1
|
| Spinal cord endoplasmic reticulum stress associated with a microsomal accumulation of mutant superoxide dismutase-1 in an ALS model.
|
| Kikuchi H, Almer G, Yamashita S, Guegan C, Nagai M, Xu Z, Sosunov AA, McKhann GM 2nd, Przedborski S.
|
| Proc Natl Acad Sci U S A 103(15):6025-30. Epub 2006 Apr 4. 2006
|
| 30 | SOD1, ALS1
|
| Onset and progression in inherited ALS determined by motor neurons and microglia.
|
| Boillee S, Yamanaka K, Lobsiger CS, Copeland NG, Jenkins NA, Kassiotis G, Kollias G, Cleveland DW.
|
| Science 312(5778):1389-92. 2006
|
| 31 | SOD1, ALS1
|
| Lentiviral-mediated silencing of SOD1 through RNA interference retards disease onset and progression in a mouse model of ALS.
|
| Raoul C, Abbas-Terki T, Bensadoun JC, Guillot S, Haase G, Szulc J, Henderson CE, Aebischer P.
|
| Nat Med 11(4):423-8. Epub 2005 Mar 13. 2005
|
| 32 | ALS1, SOD1
|
| Somatodendritic accumulation of misfolded SOD1-L126Z in motor neurons mediates degeneration: alphaB-crystallin modulates aggregation.
|
| Wang J, Xu G, Li H, Gonzales V, Fromholt D, Karch C, Copeland NG, Jenkins NA, Borchelt DR.
|
| Hum Mol Genet 14(16):2335-47. Epub 2005 Jul 6. 2005
|
| 33 | ALS1, ALS2, ALS3, ALS4, ALS5, ALS6, ALS7, ALS8, NEFH, VEGFA, SMN1, SMN2, SLC1A2, GRIA2
|
| Complex genetics of amyotrophic lateral sclerosis.
|
| Kunst CB.
|
| Am J Hum Genet 75(6):933-47. Epub 2004 Oct 11. No abstract available. 2004
|
| 34 | ALS1, ALS2, ALS3, ALS4 , ALS5, VEGFA
|
| VEGF is a modifier of amyotrophic lateral sclerosis in mice and humans and protects motoneurons against ischemic death.
|
| Lambrechts D, Storkebaum E, Morimoto M, Del-Favero J, Desmet F, Marklund SL, Wyns S, Thijs V, Andersson J, van Marion I, Al-Chalabi A, Bornes S, Musson R, Hansen V, Beckman L, Adolfsson R, Pall HS, Prats H, Vermeire S, Rutgeerts P, Katayama S, Awata T, Leigh N, Lang-Lazdunski L, Dewerchin M, Shaw C, Moons L, Vlietinck R, Morrison KE, Robberecht W, Van Broeckhoven C, Collen D, Andersen PM, Carmeliet P.
|
| Nat Genet 34(4):383-94. 2003
|
| 35 | ALS1, CNTF
|
| Early onset of severe familial amyotrophic lateral sclerosis with a SOD-1 mutation: potential impact of CNTF as a candidate modifier gene.
|
| Giess R, Holtmann B, Braga M, Grimm T, Muller-Myhsok B, Toyka KV, Sendtner M.
|
| Am J Hum Genet 70(5):1277-86. 2002
|
| 36 | SOD1, ALS1
|
| Selective loss of neurofilament expression in Cu/Zn superoxide dismutase (SOD1) linked amyotrophic lateral sclerosis.
|
| Menzies FM, Grierson AJ, Cookson MR, Heath PR, Tomkins J, Figlewicz DA, Ince PG, Shaw PJ.
|
| J Neurochem 82(5):1118-28. 2002
|
| 37 | ALS1, SOD1
|
| Mutational analysis of the Cu/Zn superoxide dismutase gene in 23 familial and 69 sporadic cases of amyotrophic lateral sclerosis in Belgium.
|
| Aguirre T, et al.
|
| Eur J Hum Genet 7(5):599-602. 1999
|
| 38 | ALS1, SF3B3, SOD1
|
| Variation in the biochemical/biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease progression in familial amyotrophic lateral sclerosis kindreds.
|
| Ratovitski T, et al.
|
| Hum Mol Genet 8(8):1451-60. 1999
|
| 39 | ALS1, SOD1
|
| A SOD1 gene mutation in a patient with slowly progressing familial ALS.
|
| Penco S, et al.
|
| Neurology 53(2):404-6 1999
|
| 40 | ALS1, SOD1
|
| A novel mutation (Cys6Gly) in the Cu/Zn superoxide dismutase gene associated with rapidly progressive familial amyotrophic lateral sclerosis.
|
| Kohno S, Takahashi Y, Miyajima H, Serizawa M, Mizoguchi K.
|
| Neurosci Lett 276(2):135-7. 1999
|
| 41 | ALS1, SOD1
|
| Chaperone-facilitated copper binding is a property common to several classes of familial amyotrophic lateral sclerosis-linked superoxide dismutase mutants.
|
| Corson LB, et al.
|
| Proc Natl Acad Sci U S A 95 : 6361-6366. 1998
|
| 42 | ALS1, SOD1
|
| Limited corticospinal tract involvement in amyotrophic lateral sclerosis subjects with the A4V mutation in the copper/zinc superoxide dismutase gene.
|
| Cudkowicz ME, et al.
|
| Ann Neurol 43 : 703-710. 1998
|
| 43 | ALS1, SOD1
|
| Amyotrophic lateral sclerosis associated with genetic abnormalities in the gene encoding Cu/Zn superoxide dismutase: molecular pathology of five new cases, and comparison with previous reports and 73 sporadic cases of ALS.
|
| Ince PG, Tomkins J, Slade JY, Thatcher NM, Shaw PJ.
|
| J Neuropathol Exp Neurol 57 : 895-904. 1998
|
| 44 | ALS1, SOD1
|
| Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder : evidence for a linked protective factor.
|
| Al-Chalabi A, Andersen PM, Chioza B, Shaw C, Sham PC, Robberecht W, Matthijs G, Camu W, Marklund SL, Forsgren L, Rouleau G, Laing NG, Hurse PV, Siddique T, Leigh PN, Powell JF.
|
| Hum Mol Genet 7 : 2045-2050. 1998
|
| 45 | ALS1, SOD1
|
| Molecular analyses of the Cu/Zn superoxide dismutase gene in patients with familial amyotrophic lateral sclerosis (ALS) in Japan.
|
| Aoki M, et al.
|
| Cell Mol Neurobiol 18(6):639-47. 1998
|
| 46 | ALS1, SOD1
|
| A novel missense point mutation (S134N) of the Cu/Zn superoxide dismutase gene in a patient with familal motor neuron disease.
|
| Watanabe M, et al.
|
| Hum Mutat 9 : 69-71. 1997
|
| 47 | ALS1, SOD1
|
| Mutations in SOD1 associated with amyotrophic lateral sclerosis cause novel protein interactions.
|
| Kunst CB, et al.
|
| Nat Genet 15 : 91-94. 1997
|
| 48 | ALS1, SOD1
|
| Novel G16S (GGC-AGC) mutation in the SOD-1 gene in a patient with apparently sporadic young-onset amyotrophic lateral sclerosis.
|
| Kawamata J, et al.
|
| Hum Mutat 9 : 356-358. 1997
|
| 49 | ALS1, SOD1
|
| Exon 5 encoded domain is not required for the toxic function of mutant SOD1 but essential for the dismutase activity : identification and characterization of two new SOD1 mutations associated with familial amyotrophic lateral sclerosis.
|
| Zu JS, et al.
|
| Neurogenetics 1 : 65-71. 1997
|
| 50 | ALS1, SOD1
|
| Clinical and functional investigation of 10 missense mutations and a novel frameshift insertion mutation of the gene for copper-zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis.
|
| Orrell RW, et al.
|
| Neurology 48 : 746-751. 1997
|
| 51 | ALS1, SOD1
|
| Mutant superoxide dismutase-1-linked familial amyotrophic lateral sclerosis : molecular mechanisms of neuronal death and protection.
|
| Ghadge GD, Lee JP, Bindokas VP, Jordan J, Ma L, Miller RJ, Roos RP.
|
| J Neurosci 17(22):8756-66. 1997
|
| 52 | ALS1, SOD1
|
| Copper/Zinc superoxide dismutase 1 and sporadic amyotrophic lateral sclerosis : analysis of 155 cases and identification of a novel insertion mutation.
|
| Jackson M, Al-Chalabi A, Enayat ZE, Chioza B, Leigh PN, Morrison KE.
|
| Ann Neurol 42(5):803-7. 1997
|
| 53 | ALS1, SOD1
|
| Superoxide dismutase 1 : identification of a novel mutation in a case of familial amyotrophic lateral sclerosis.
|
| Kostrzewa M, et al.
|
| Hum Genet 98 : 48-50. 1996
|
| 54 | ALS1, SOD1
|
| A gain-of-function of an amyotrophic lateral sclerosis-associated Cu,Zn-superoxide dismutase mutant : an enhancement of free radical formation due to a decrease in Km for hydrogen peroxide.
|
| Yim MB, et al.
|
| Proc Natl Acad Sci U S A 93 : 5709-5714. 1996
|
| 55 | SOD1, ALS1
|
| Mutations in copper-zinc superoxide dismutase that cause amyotrophic lateral sclerosis alter the zinc binding site and the redox behavior of the protein.
|
| Lyons TJ, et al.
|
| Proc Natl Acad Sci U S A 93 : 12240-12244. 1996
|
| 56 | ALS1, SOD1
|
| A specific superoxide dismutase mutation is on the same genetic background in sporadic and familial cases of amyotrophic lateral sclerosis.
|
| Hayward C, et al.
|
| Am J Hum Genet 59 : 1165-1167. 1996
|
| 57 | ALS1, SOD1
|
| Familial amyotrophic lateral sclerosis with a two base pair deletion in superoxide dismutase 1 gene : multisystem degeneration with intracytoplasmic hyaline inclusions in astrocytes.
|
| Kato S, et al.
|
| J Neuropathol Exp Neurol 55 : 1089-1101. 1996
|
| 58 | ALS1, SOD1
|
| D90A heterozygosity in the SOD1 gene is associated with familial and apparently sporadic amyotrophic lateral sclerosis.
|
| Robberecht W, et al.
|
| Neurology 47 : 1336-1339. 1996
|
| 59 | ALS1, SOD1
|
| Three novel mutations and two variants in the gene for Cu/Zn superoxide dismutase in familial amyotrophic lateral sclerosis.
|
| Hosler BA, et al.
|
| Neuromuscul Disord 6 : 361-366. 1996
|
| 60 | SOD1, ALS1
|
| Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis.
|
| Pramatarova A, et al.
|
| Am J Hum Genet 56 : 592-596. 1995
|
| 61 | SOD1, ALS1
|
| A novel mutation in the Cu/Zn superoxide dismutase gene in a patient with familial amyotrophic lateral sclerosis.
|
| Ikeda M, et al.
|
| Hum Mol Genet 4 : 491-492. 1995
|
| 62 | ALS1, SOD1
|
| Superoxide dismutase mutations in an unselected cohort of Scottish amyotrophic lateral sclerosis patients.
|
| Jones CT, et al.
|
| J Med Genet 32 : 290-292. 1995
|
| 63 | ALS1, SOD1
|
| Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase.
|
| Andersen PM, et al.
|
| Nat Genet 10 : 61-66. 1995
|
| 64 | ALS1, SOD1
|
| Mutations associated with amyotrophic lateral sclerosis convert superoxide dismutase from an antiapoptotic gene to a proapoptotic gene : studies in yeast and neural cells.
|
| Rabizadeh S, et al.
|
| Proc Natl Acad Sci U S A 92 : 3024-3028. 1995
|
| 65 | ALS1, SOD1
|
| Two novel SOD1 mutations in patients with familial amyotrophic lateral sclerosis.
|
| Deng HX, et al.
|
| Hum Mol Genet 4 : 1113-1116. 1995
|
| 66 | SOD1, ALS1
|
| Two novel mutations in the gene for copper zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis.
|
| Enayat ZE, et al.
|
| Hum Mol Genet 4 : 1239-1240. 1995
|
| 67 | ALS1, SOD1
|
| Identification of a new missense point mutation in exon 4 of the Cu/Zn superoxide dismutase (SOD-1) gene in a family with amyotrophic lateral sclerosis.
|
| Elshafey A, et al.
|
| Hum Mol Genet 3 : 363-364. 1994
|
| 68 | ALS1, SOD1
|
| Identification of a novel SOD1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of Ile113Thr in three others.
|
| Jones CT, et al.
|
| Hum Mol Genet 3 : 649-650. 1994
|
| 69 | ALS1
|
| Genetic linkage analysis of familial amyotrophic lateral sclerosis using human chromosome 21 microsatellite DNA markers.
|
| Rosen DR, et al.
|
| Am J Med Genet 51 : 61-69. 1994
|
| 70 | ALS1, SOD1
|
| Identification of two novel mutations and a new polymorphism in the gene for Cu/Zn superoxide dismutase in patients with amyotrophic lateral sclerosis.
|
| Esteban J, et al.
|
| Hum Mol Genet 3 : 997-998. 1994
|
| 71 | SOD1, ALS1
|
| A frequent ala 4 to val superoxide dismutase-1 mutation is associated with a rapidly progressive familial amyotrophic lateral sclerosis.
|
| Rosen DR, et al.
|
| Hum Mol Genet 3 : 981-987. 1994
|
| 72 | ALS1
|
| Leu106-Val (CTC-GTC) mutation of superoxide dismutase-1 gene in patient with familial amyotrophic lateral sclerosis in Japan.
|
| Kawamata J, et al.
|
| Lancet 343 : 1501-1502. 1994
|
| 73 | SOD1, ALS1
|
| Superoxide dismutase 1 with mutations linked to familial amyotrophic lateral sclerosis possesses significant activity.
|
| Borchelt DR, et al.
|
| Proc Natl Acad Sci U S A 91 : 8292-8296. 1994
|
| 74 | ALS1, SOD1
|
| A novel mutation in Cu/Zn superoxide dismutase gene in Japanese familial amyotrophic lateral sclerosis.
|
| Nakano R, et al.
|
| Biochem Biophys Res Commun 200 : 695-703. 1994
|
| 75 | SOD1, ALS1
|
| An inactivating mutation in the SOD 1 gene causes familial amyotrophic lateral sclerosis. (abstr)
|
| Pramatarova A, et al.
|
| Am J Hum Genet 55 : A236. 1994
|
| 76 | ALS1, SOD1
|
| A two basepair deletion in the SOD 1 gene causes familial amyotrophic lateral sclerosis.
|
| Pramatarova A, et al.
|
| Hum Mol Genet 3 : 2061-2062. 1994
|
| 77 | ALS1
|
| Identification of flanking markers for the familial amyotrophic lateral sclerosis gene ALS1 on chromosome 21.
|
| Figlewicz DA, et al.
|
| J Neurol Sci 124 : 90-95. 1994
|
| 78 | ALS1, SOD1
|
| Autosomal dominant amyotrophic lateral sclerosis : a novel mutation in the Cu/Zn superoxide dismutase-1 gene.
|
| Kostrzewa M, et al.
|
| Hum Mol Genet 3 : 2261-2262. 1994
|
| 79 | ALS1, SOD1
|
| Analysis of the functional effects of a mutation in SOD1 associated with familial amyotrophic lateral sclerosis.
|
| Tsuda T, et al.
|
| Neuron 13 : 727-736. 1994
|
| 80 | ALS1, SOD1
|
| Sporadic motoneuron disease due to familial SOD1 mutation with low penetrance.
|
| Suthers G, et al.
|
| Lancet 344 : 1773. 1994
|
| 81 | ALS1, SOD1
|
| Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient.
|
| Jones CT, et al.
|
| Mol Cell Probes 8 : 329-330. 1994
|
| 82 | SOD1, ALS1
|
| Familial amyotrophic lateral sclerosis (ALS) in Japan associated with H46R mutation in Cu/Zn superoxide dismutase gene : a possible new subtype of familial ALS.
|
| Aoki M, et al.
|
| J Neurol Sci 126 : 77-83. 1994
|
| 83 | SOD1, ALS1
|
| A new variant Cu/Zn superoxide dismutase (Val7-Glu) deduced from lymphocyte mRNA sequences from Japanese patients with familial amyotrophic lateral sclerosis.
|
| Hirano M, et al.
|
| Biochem Biophys Res Commun 204 : 572-577. 1994
|
| 84 | SOD1, ALS1
|
| Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis.
|
| Rosen DR, et al.
|
| Nature 362 : 59-62. 1993
|
| 85 | ALS1, SOD1
|
| Mild ALS in Japan associated with novel SOD mutation.
|
| Ogasawara M, et al.
|
| Nat Genet 5 : 323-324. 1993
|
| 86 | ALS1
|
| Absence of linkage between chromosome 21 loci and familial amyotropic lateral sclerosis.
|
| King A, et al.
|
| J Med Genet 30 : 318. 1993
|
| 87 | ALS1
|
| Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase.
|
| Deng HX, et al.
|
| Science 261 : 1047-1051. 1993
|
| 88 | SOD1, ALS1
|
| Ala4 mutation in SOD1 is the most frequent mutation in chromosome 21-linked familial ALS (FALS).
|
| Siddique T, et al.
|
| Am J Hum Genet 53 : 1229. 1993
|
| 89 | ALS1
|
| Cell culture evidence for neuronal degeneration in amyotrophic lateral sclerosis being linked to glutamate AMPA/kainate receptors.
|
| Couratier P, et al.
|
| Lancet 341 : 265-268. 1993
|
| 90 | ALS1
|
| Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity.
|
| Siddique T, et al.
|
| N Engl J Med 324 : 1381-1384. 1991
|
| 91 | ALS1
|
| Molecular genetics of familial amyotrophic lateral sclerosis.
|
| Siddique T.
|
| Adv Neurol 56 : 227-231. 1991
|
| 92 | ALS1, D19S11, D19S19
|
| Linkage in familial amyotrophic lateral sclerosis (ALS).
|
| Siddique T, et al.
|
| (HGM9) Cytogenet Cell Genet 46 : 692. 1987
|