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Results: 1 to 20 of 189

Similar articles for PubMed (Select 7496169)

1.

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
2.

Novel F45S SOD1 Mutation in Amyotrophic Lateral Sclerosis Coexisting with Bullous Pemphigoid.

Oh SI, Hong JH, Choi BW, Oh KW, Park CK, Kwon MJ, Ki CS, Ko JY, Kim SH.

J Clin Neurol. 2014 Dec 15. [Epub ahead of print]

3.
4.

[SOD1 gene mutations in patients with amyotrophic lateral sclerosis: potential for the method of molecular].

Lysogorskaia EV, Rossokhin AV, Abramycheva NIu, Zakharova MN, Illarioshkin SN.

Mol Biol (Mosk). 2013 Sep-Oct;47(5):861-7. Russian.

PMID:
25509359
5.

A novel p.E121G SOD1 mutation in slowly progressive form of amyotrophic lateral sclerosis induces cytoplasmic aggregates in cultured motor neurons and reduces cell viability.

Dangoumau A, Deschamps R, Veyrat-Durebex C, Pettmann B, Corcia P, Andres CR, Vourc'h P.

Amyotroph Lateral Scler Frontotemporal Degener. 2015 Mar;16(1-2):131-4. doi: 10.3109/21678421.2014.965179. Epub 2014 Oct 22.

PMID:
25336041
6.

Slowly progressing lower motor neuron disease caused by a novel duplication mutation in exon 1 of the SOD1 gene.

Nakamura A, Kuru S, Hineno A, Kobayashi C, Kinoshita T, Miyazaki D, Ikeda S.

Neurobiol Aging. 2014 Oct;35(10):2420.e7-2420.e12. doi: 10.1016/j.neurobiolaging.2014.04.012. Epub 2014 Apr 19.

PMID:
24838187
7.

A familial ALS case carrying a novel p.G147C SOD1 heterozygous missense mutation with non-executive cognitive impairment.

Canosa A, Calvo A, Moglia C, Iazzolino B, Brunetti M, Restagno G, Cistaro A, Fania P, Carrara G, Valentini MC, Tanel R, Chiò A.

J Neurol Neurosurg Psychiatry. 2014 Dec;85(12):1437-9. doi: 10.1136/jnnp-2013-307552. Epub 2014 Apr 25. No abstract available.

PMID:
24769475
8.

Multiple system involvement in a Japanese patient with a V31A mutation in the SOD1 gene.

Sakamoto H, Akamatsu M, Hirano M, Saigoh K, Ueno S, Isono C, Kusunoki S, Nakamura Y.

Amyotroph Lateral Scler Frontotemporal Degener. 2014 Jun;15(3-4):312-4. doi: 10.3109/21678421.2013.873051. Epub 2014 Mar 10.

PMID:
24611504
9.

Genetic analysis of SS18L1 in French amyotrophic lateral sclerosis.

Teyssou E, Vandenberghe N, Moigneu C, Boillée S, Couratier P, Meininger V, Pradat PF, Salachas F, Leguern E, Millecamps S.

Neurobiol Aging. 2014 May;35(5):1213.e9-1213.e12. doi: 10.1016/j.neurobiolaging.2013.11.023. Epub 2013 Dec 3.

PMID:
24360741
10.

A novel mutation of SOD-1 (Gly 108 Val) in familial amyotrophic lateral sclerosis.

Orrell RW, Habgood JJ, Shepherd DI, Donnai D, de Belleroche J.

Eur J Neurol. 1997 Jan;4(1):48-51. doi: 10.1111/j.1468-1331.1997.tb00298.x.

PMID:
24283821
11.

Identification of a novel missense (C7W) mutation of SOD1 in a large familial amyotrophic lateral sclerosis pedigree.

Wang Z, Cai W, Cui F, Cai T, Chen Z, Mao F, Teng H, Chen L, Wang J, Sun Z, Huang X, Yu P.

Neurobiol Aging. 2014 Mar;35(3):725.e11-5. doi: 10.1016/j.neurobiolaging.2013.08.024. Epub 2013 Oct 1.

PMID:
24094577
12.

New mutation in the SOD1 (copper/zinc superoxide dismutase-1) gene in a Chinese amyotrophic lateral sclerosis (ALS) patient.

Cui F, Cai W, Wang Z, Ren Y, Li M, Sun Z, Huang X.

Amyotroph Lateral Scler Frontotemporal Degener. 2013 Dec;14(7-8):635-7. doi: 10.3109/21678421.2013.817589. Epub 2013 Jul 29.

PMID:
23889606
13.

An antisense oligonucleotide against SOD1 delivered intrathecally for patients with SOD1 familial amyotrophic lateral sclerosis: a phase 1, randomised, first-in-man study.

Miller TM, Pestronk A, David W, Rothstein J, Simpson E, Appel SH, Andres PL, Mahoney K, Allred P, Alexander K, Ostrow LW, Schoenfeld D, Macklin EA, Norris DA, Manousakis G, Crisp M, Smith R, Bennett CF, Bishop KM, Cudkowicz ME.

Lancet Neurol. 2013 May;12(5):435-42. doi: 10.1016/S1474-4422(13)70061-9. Epub 2013 Mar 29. Erratum in: Lancet Neurol. 2013 May;12(5):423.

14.

α-Synuclein coaggregation in familial amyotrophic lateral sclerosis with SOD1 gene mutation.

Takei Y, Oguchi K, Koshihara H, Hineno A, Nakamura A, Ohara S.

Hum Pathol. 2013 Jun;44(6):1171-6. doi: 10.1016/j.humpath.2012.10.024. Epub 2013 Jan 24.

PMID:
23352207
15.

Pathological roles of wild-type cu, zn-superoxide dismutase in amyotrophic lateral sclerosis.

Furukawa Y.

Neurol Res Int. 2012;2012:323261. doi: 10.1155/2012/323261. Epub 2012 Jul 1.

16.

Novel G37V mutation of SOD1 gene in autopsied patient with familial amyotrophic lateral sclerosis.

Kobayashi J, Kuroda M, Kawata A, Mochizuki Y, Mizutani T, Komori T, Ikeuchi T, Koide R.

Amyotroph Lateral Scler. 2012 Oct;13(6):570-2. doi: 10.3109/17482968.2012.686512. Epub 2012 Jun 7.

PMID:
22670881
17.

REM behavior disorder associated with familial amyotrophic lateral sclerosis.

Ebben MR, Shahbazi M, Lange DJ, Krieger AC.

Amyotroph Lateral Scler. 2012 Sep;13(5):473-4. doi: 10.3109/17482968.2012.673172. Epub 2012 Jun 7.

PMID:
22670878
18.

Combined fulminant frontotemporal dementia and amyotrophic lateral sclerosis associated with an I113T SOD1 mutation.

Katz JS, Katzberg HD, Woolley SC, Marklund SL, Andersen PM.

Amyotroph Lateral Scler. 2012 Oct;13(6):567-9. doi: 10.3109/17482968.2012.678365. Epub 2012 Jun 7.

PMID:
22670877
19.

Identification of a novel Cys146X mutation of SOD1 in familial amyotrophic lateral sclerosis by whole-exome sequencing.

Wu J, Shen E, Shi D, Sun Z, Cai T.

Genet Med. 2012 Sep;14(9):823-6. doi: 10.1038/gim.2012.50. Epub 2012 May 17.

PMID:
22595939
20.

A novel exon 3 mutation (P66S) in the SOD1 gene in familial ALS.

Baek W, Koh SH, Kim YS, Kim HY, Kwon MJ, Ki CS, Kim SH.

Can J Neurol Sci. 2012 Mar;39(2):245-6. No abstract available.

PMID:
22343163
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