Citations for
1ALS1, 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
2ALS1, 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
3ALS1, 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
4ALS1, 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
5ALS1, 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
6ALS1, 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
7ALS1, 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
8ALS1, 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
9ALS1, 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
10ALS1, 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
11ALS1, 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
12ALS1, 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
13ALS1, 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
14ALS1, 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
15ALS1, 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
16ALS1, 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
17ALS1, 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
18ALS1, 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
19ALS1, 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
20ALS1,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
21ALS1,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
22SOD1, 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
23SOD1, 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
24ALS1, 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
25ALS1, 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
26SOD1, 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
27SOD1, 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
28ALS1, 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
29ALS1, 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
30ALS1, 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
31ALS1, 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
32SOD1, 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
33ALS1, 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
34ALS1, 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
35ALS1, SOD1
A SOD1 gene mutation in a patient with slowly progressing familial ALS.
Penco S, et al.
Neurology 53(2):404-6 1999
36ALS1, 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
37ALS1, 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
38ALS1, 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
39ALS1, 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
40ALS1, 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
41ALS1, 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
42ALS1, 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
43ALS1, SOD1
Mutations in SOD1 associated with amyotrophic lateral sclerosis cause novel protein interactions.
Kunst CB, et al.
Nat Genet 15 : 91-94. 1997
44ALS1, 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
45ALS1, 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
46ALS1, 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
47ALS1, 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
48ALS1, 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
49ALS1, 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
50ALS1, 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
51SOD1, 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
52ALS1, 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
53ALS1, 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
54ALS1, 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
55ALS1, 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
56SOD1, 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
57SOD1, 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
58ALS1, 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
59ALS1, 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
60ALS1, 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
61ALS1, SOD1
Two novel SOD1 mutations in patients with familial amyotrophic lateral sclerosis.
Deng HX, et al.
Hum Mol Genet 4 : 1113-1116. 1995
62SOD1, 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
63ALS1, 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
64ALS1, 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
65ALS1
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
66ALS1, 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
67SOD1, 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
68ALS1
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
69SOD1, 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
70ALS1, 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
71SOD1, 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
72ALS1, 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
73ALS1
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
74ALS1, 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
75ALS1, 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
76ALS1, SOD1
Sporadic motoneuron disease due to familial SOD1 mutation with low penetrance.
Suthers G, et al.
Lancet 344 : 1773. 1994
77ALS1, 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
78SOD1, 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
79SOD1, 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
80SOD1, ALS1
Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis.
Rosen DR, et al.
Nature 362 : 59-62. 1993
81ALS1, SOD1
Mild ALS in Japan associated with novel SOD mutation.
Ogasawara M, et al.
Nat Genet 5 : 323-324. 1993
82ALS1
Absence of linkage between chromosome 21 loci and familial amyotropic lateral sclerosis.
King A, et al.
J Med Genet 30 : 318. 1993
83ALS1
Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase.
Deng HX, et al.
Science 261 : 1047-1051. 1993
84SOD1, 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
85ALS1
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
86ALS1
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
87ALS1
Molecular genetics of familial amyotrophic lateral sclerosis.
Siddique T.
Adv Neurol 56 : 227-231. 1991
88ALS1, D19S11, D19S19
Linkage in familial amyotrophic lateral sclerosis (ALS).
Siddique T, et al.
(HGM9) Cytogenet Cell Genet 46 : 692. 1987