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Items: 1 to 20 of 302

1.

Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis.

Sapp PC, Hosler BA, McKenna-Yasek D, Chin W, Gann A, Genise H, Gorenstein J, Huang M, Sailer W, Scheffler M, Valesky M, Haines JL, Pericak-Vance M, Siddique T, Horvitz HR, Brown RH Jr.

Am J Hum Genet. 2003 Aug;73(2):397-403. Epub 2003 Jul 9.

2.

Two families with familial amyotrophic lateral sclerosis are linked to a novel locus on chromosome 16q.

Ruddy DM, Parton MJ, Al-Chalabi A, Lewis CM, Vance C, Smith BN, Leigh PN, Powell JF, Siddique T, Meyjes EP, Baas F, de Jong V, Shaw CE.

Am J Hum Genet. 2003 Aug;73(2):390-6. Epub 2003 Jul 1.

3.

A new familial amyotrophic lateral sclerosis locus on chromosome 16q12.1-16q12.2.

Abalkhail H, Mitchell J, Habgood J, Orrell R, de Belleroche J.

Am J Hum Genet. 2003 Aug;73(2):383-9. Epub 2003 Jun 26.

4.

A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q.

Hand CK, Khoris J, Salachas F, Gros-Louis F, Lopes AA, Mayeux-Portas V, Brewer CG, Brown RH Jr, Meininger V, Camu W, Rouleau GA.

Am J Hum Genet. 2002 Jan;70(1):251-6. Epub 2001 Nov 9. Erratum in: Am J Hum Genet 2002 Oct;71(4):1007.

5.

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
6.

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
7.

Lack of SOD1 gene mutations and activity alterations in two Italian families with amyotrophic lateral sclerosis.

Gestri D, Cecchi C, Tedde A, Latorraca S, Orlacchio A, Grassi E, Massaro AM, Liguri G, St George-Hyslop PH, Sorbi S.

Neurosci Lett. 2000 Aug 11;289(3):157-60.

PMID:
10961653
8.

SOD1 mutations in amyotrophic lateral sclerosis. Results from a multicenter Italian study.

Battistini S, Giannini F, Greco G, Bibbò G, Ferrera L, Marini V, Causarano R, Casula M, Lando G, Patrosso MC, Caponnetto C, Origone P, Marocchi A, Del Corona A, Siciliano G, Carrera P, Mascia V, Giagheddu M, Carcassi C, Orrù S, Garrè C, Penco S.

J Neurol. 2005 Jul;252(7):782-8. Epub 2005 Mar 29.

PMID:
15789135
9.

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
10.

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
11.

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
12.

Familial amyotrophic lateral sclerosis.

Siddique T, Nijhawan D, Hentati A.

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

PMID:
9266431
13.

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.

14.

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
15.

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
16.

Further evidence that D90A-SOD1 mutation is recessively inherited in ALS patients in Italy.

Luisa Conforti F, Sprovieri T, Mazzei R, Patitucci A, Ungaro C, Zoccolella S, Magariello A, Bella VL, Tessitore A, Tedeschi G, Simone IL, Majorana G, Valentino P, Citrigno L, Gabriele A, Bono F, Monsurrò MR, Muglia M, Quattrone A.

Amyotroph Lateral Scler. 2009 Feb;10(1):58-60. doi: 10.1080/17482960802163853.

PMID:
18608106
17.

Mutational analysis of the Cu/Zn superoxide dismutase gene in a Catalan ALS population: should all sporadic ALS cases also be screened for SOD1?

Gamez J, Corbera-Bellalta M, Nogales G, Raguer N, García-Arumí E, Badia-Canto M, Lladó-Carbó E, Alvarez-Sabín J.

J Neurol Sci. 2006 Aug 15;247(1):21-8. Epub 2006 May 3.

PMID:
16674979
18.

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
19.

Familial amyotrophic lateral sclerosis with a mutation in the Cu/Zn superoxide dismutase gene.

Takahashi H, Makifuchi T, Nakano R, Sato S, Inuzuka T, Sakimura K, Mishina M, Honma Y, Tsuji S, Ikuta F.

Acta Neuropathol. 1994;88(2):185-8.

PMID:
7985500
20.

Molecular analysis of the superoxide dismutase 1 gene in Spanish patients with sporadic or familial amyotrophic lateral sclerosis.

García-Redondo A, Bustos F, Juan Y Seva B, Del Hoyo P, Jiménez S, Campos Y, Martín MA, Rubio JC, Cañadillas F, Arenas J, Esteban J.

Muscle Nerve. 2002 Aug;26(2):274-8.

PMID:
12210393
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