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Items: 1 to 20 of 99

1.

TDP-43 M311V mutation in familial amyotrophic lateral sclerosis.

Lemmens R, Race V, Hersmus N, Matthijs G, Van Den Bosch L, Van Damme P, Dubois B, Boonen S, Goris A, Robberecht W.

J Neurol Neurosurg Psychiatry. 2009 Mar;80(3):354-5. doi: 10.1136/jnnp.2008.157677. No abstract available.

PMID:
19228676
2.

TDP-43 M337V mutation in familial amyotrophic lateral sclerosis in Japan.

Tamaoka A, Arai M, Itokawa M, Arai T, Hasegawa M, Tsuchiya K, Takuma H, Tsuji H, Ishii A, Watanabe M, Takahashi Y, Goto J, Tsuji S, Akiyama H.

Intern Med. 2010;49(4):331-4. Epub 2010 Feb 15.

3.

A rare Cu/Zn superoxide dismutase mutation causing familial amyotrophic lateral sclerosis with variable age of onset, incomplete penetrance and a sensory neuropathy.

Rezania K, Yan J, Dellefave L, Deng HX, Siddique N, Pascuzzi RT, Siddique T, Roos RP.

Amyotroph Lateral Scler Other Motor Neuron Disord. 2003 Sep;4(3):162-6.

PMID:
13129803
4.

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
5.

Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis.

Kamada M, Maruyama H, Tanaka E, Morino H, Wate R, Ito H, Kusaka H, Kawano Y, Miki T, Nodera H, Izumi Y, Kaji R, Kawakami H.

J Neurol Sci. 2009 Sep 15;284(1-2):69-71. doi: 10.1016/j.jns.2009.04.017. Epub 2009 May 2.

PMID:
19411082
6.

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
7.

Mutations of optineurin in amyotrophic lateral sclerosis.

Maruyama H, Morino H, Ito H, Izumi Y, Kato H, Watanabe Y, Kinoshita Y, Kamada M, Nodera H, Suzuki H, Komure O, Matsuura S, Kobatake K, Morimoto N, Abe K, Suzuki N, Aoki M, Kawata A, Hirai T, Kato T, Ogasawara K, Hirano A, Takumi T, Kusaka H, Hagiwara K, Kaji R, Kawakami H.

Nature. 2010 May 13;465(7295):223-6. doi: 10.1038/nature08971. Epub 2010 Apr 28.

PMID:
20428114
8.

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, Müller-Myhsok B, Toyka KV, Sendtner M.

Am J Hum Genet. 2002 May;70(5):1277-86. Epub 2002 Apr 9.

9.

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
10.

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
11.

Familial ALS in Germany: origin of the R115G SOD1 mutation by a founder effect.

Niemann S, Joos H, Meyer T, Vielhaber S, Reuner U, Gleichmann M, Dengler R, Müller U.

J Neurol Neurosurg Psychiatry. 2004 Aug;75(8):1186-8.

12.

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
13.

TARDBP (TDP-43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations.

Del Bo R, Ghezzi S, Corti S, Pandolfo M, Ranieri M, Santoro D, Ghione I, Prelle A, Orsetti V, Mancuso M, Sorarù G, Briani C, Angelini C, Siciliano G, Bresolin N, Comi GP.

Eur J Neurol. 2009 Jun;16(6):727-32. doi: 10.1111/j.1468-1331.2009.02574.x. Epub 2009 Feb 19.

PMID:
19236453
14.

Marked reduction of the Cu/Zn superoxide dismutase polypeptide in a case of familial amyotrophic lateral sclerosis with the homozygous mutation.

Kato M, Aoki M, Ohta M, Nagai M, Ishizaki F, Nakamura S, Itoyama Y.

Neurosci Lett. 2001 Oct 26;312(3):165-8.

PMID:
11602336
15.

Coexistence of dominant and recessive familial amyotrophic lateral sclerosis with the D90A Cu,Zn superoxide dismutase mutation within the same country.

Khoris J, Moulard B, Briolotti V, Hayer M, Durieux A, Clavelou P, Malafosse A, Rouleau GA, Camu W.

Eur J Neurol. 2000 Mar;7(2):207-11.

PMID:
10809943
16.

Large-scale SOD1 mutation screening provides evidence for genetic heterogeneity in amyotrophic lateral sclerosis.

van Es MA, Dahlberg C, Birve A, Veldink JH, van den Berg LH, Andersen PM.

J Neurol Neurosurg Psychiatry. 2010 May;81(5):562-6. doi: 10.1136/jnnp.2009.181453. Epub 2009 Dec 3.

PMID:
19965850
17.

Familial amyotrophic lateral sclerosis with a point mutation (G37R) of the superoxide dismutase 1 gene: a clinicopathological study.

Inoue K, Fujimura H, Ogawa Y, Satoh T, Shimada K, Sakoda S.

Amyotroph Lateral Scler Other Motor Neuron Disord. 2002 Dec;3(4):244-7.

PMID:
12710516
18.

Variance of age at onset in a Japanese family with amyotrophic lateral sclerosis associated with a novel Cu/Zn superoxide dismutase mutation.

Aoki M, Abe K, Houi K, Ogasawara M, Matsubara Y, Kobayashi T, Mochio S, Narisawa K, Itoyama Y.

Ann Neurol. 1995 May;37(5):676-9.

PMID:
7755363
19.

A novel codon4 mutation (A4F) in the SOD1gene in familial amyotrophic lateral sclerosis.

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

J Neurol Sci. 2011 Jul 15;306(1-2):157-9. doi: 10.1016/j.jns.2011.03.041. Epub 2011 Apr 14.

PMID:
21496827
20.

FUS, TARDBP, and SOD1 mutations in a Taiwanese cohort with familial ALS.

Tsai CP, Soong BW, Lin KP, Tu PH, Lin JL, Lee YC.

Neurobiol Aging. 2011 Mar;32(3):553.e13-21. doi: 10.1016/j.neurobiolaging.2010.04.009. Epub 2010 May 15.

PMID:
20472325

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