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Items: 1 to 20 of 174

1.

Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis.

Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati A, Donaldson D, Goto J, O'Regan JP, Deng HX, et al.

Nature. 1993 Mar 4;362(6415):59-62. Erratum in: Nature. 1993 Jul 22;364(6435):362.

PMID:
8446170
2.

A frequent ala 4 to val superoxide dismutase-1 mutation is associated with a rapidly progressive familial amyotrophic lateral sclerosis.

Rosen DR, Bowling AC, Patterson D, Usdin TB, Sapp P, Mezey E, McKenna-Yasek D, O'Regan J, Rahmani Z, Ferrante RJ, et al.

Hum Mol Genet. 1994 Jun;3(6):981-7.

PMID:
7951249
3.

Cu/Zn superoxide dismutase activity in familial and sporadic amyotrophic lateral sclerosis.

Robberecht W, Sapp P, Viaene MK, Rosen D, McKenna-Yasek D, Haines J, Horvitz R, Theys P, Brown R Jr.

J Neurochem. 1994 Jan;62(1):384-7.

PMID:
8263541
4.

Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis.

Pramatarova A, Figlewicz DA, Krizus A, Han FY, Ceballos-Picot I, Nicole A, Dib M, Meininger V, Brown RH, Rouleau GA.

Am J Hum Genet. 1995 Mar;56(3):592-6.

5.

Identification of six novel SOD1 gene mutations in familial amyotrophic lateral sclerosis.

Boukaftane Y, Khoris J, Moulard B, Salachas F, Meininger V, Malafosse A, Camu W, Rouleau GA.

Can J Neurol Sci. 1998 Aug;25(3):192-6.

PMID:
9706719
6.

Absence of mutations in the Mn superoxide dismutase or catalase genes in familial amyotrophic lateral sclerosis.

Parboosingh JS, Rouleau GA, Meninger V, McKenna-Yasek D, Brown RH Jr, Figlewicz DA.

Neuromuscul Disord. 1995 Jan;5(1):7-10.

PMID:
7719145
7.

Genetic linkage analysis of familial amyotrophic lateral sclerosis using human chromosome 21 microsatellite DNA markers.

Rosen DR, Sapp P, O'Regan J, McKenna-Yasek D, Schlumpf KS, Haines JL, Gusella JF, Horvitz HR, Brown RH Jr.

Am J Med Genet. 1994 May 15;51(1):61-9.

PMID:
7913294
8.

Three novel mutations and two variants in the gene for Cu/Zn superoxide dismutase in familial amyotrophic lateral sclerosis.

Hosler BA, Nicholson GA, Sapp PC, Chin W, Orrell RW, de Belleroche JS, Esteban J, Hayward LJ, Mckenna-Yasek D, Yeung L, Cherryson AK, Dench JE, Wilton SD, Laing NG, Horvitz HR, Brown RH Jr.

Neuromuscul Disord. 1996 Oct;6(5):361-6.

PMID:
8938700
9.

A novel mutation in Cu/Zn superoxide dismutase gene in Japanese familial amyotrophic lateral sclerosis.

Nakano R, Sato S, Inuzuka T, Sakimura K, Mishina M, Takahashi H, Ikuta F, Honma Y, Fujii J, Taniguchi N, et al.

Biochem Biophys Res Commun. 1994 Apr 29;200(2):695-703.

PMID:
8179602
10.

Identification of three novel mutations in the gene for Cu/Zn superoxide dismutase in patients with familial amyotrophic lateral sclerosis.

Sapp PC, Rosen DR, Hosler BA, Esteban J, McKenna-Yasek D, O'Regan JP, Horvitz HR, Brown RH Jr.

Neuromuscul Disord. 1995 Sep;5(5):353-7.

PMID:
7496169
11.

Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations.

Gellera C, Castellotti B, Riggio MC, Silani V, Morandi L, Testa D, Casali C, Taroni F, Di Donato S, Zeviani M, Mariotti C.

Neuromuscul Disord. 2001 May;11(4):404-10.

PMID:
11369193
12.

Mutational analysis of the Cu/Zn superoxide dismutase gene in 23 familial and 69 sporadic cases of amyotrophic lateral sclerosis in Belgium.

Aguirre T, Matthijs G, Robberecht W, Tilkin P, Cassiman JJ.

Eur J Hum Genet. 1999 Jul;7(5):599-602.

13.

Familial amyotrophic lateral sclerosis.

Siddique T, Nijhawan D, Hentati A.

J Neural Transm Suppl. 1997;49:219-33. Review.

PMID:
9266431
14.

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, Ogasawara M, Matsubara Y, Narisawa K, Nakamura S, Itoyama Y, Abe K.

J Neurol Sci. 1994 Oct;126(1):77-83.

PMID:
7836951
15.

[Familial amyotrophic lateral sclerosis and mutations in the Cu/Zn superoxide dismutase gene].

Nakano R.

Rinsho Shinkeigaku. 1995 Dec;35(12):1546-8. Review. Japanese.

PMID:
8752459
16.
17.

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. 1999 Dec 3;276(2):135-7.

PMID:
10624810
18.

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. 1997 Nov;42(5):803-7.

PMID:
9392581
19.

A rare Cu/Zn superoxide dismutase mutation causing familial amyotrophic lateral sclerosis with variable age of onset and incomplete penetrance in China.

Zhang H, Zhao H, Lu M, Zhang Y, Wang L, Zhang J, Ma D, Fan D.

Amyotroph Lateral Scler Other Motor Neuron Disord. 2005 Dec;6(4):234-8.

PMID:
16319027
20.

Analysis of the functional effects of a mutation in SOD1 associated with familial amyotrophic lateral sclerosis.

Tsuda T, Munthasser S, Fraser PE, Percy ME, Rainero I, Vaula G, Pinessi L, Bergamini L, Vignocchi G, McLachlan DR, et al.

Neuron. 1994 Sep;13(3):727-36.

PMID:
7917302

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