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Items: 1 to 20 of 176

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.

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
5.

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
6.

A novel TARDBP mutation in an Australian amyotrophic lateral sclerosis kindred.

Williams KL, Durnall JC, Thoeng AD, Warraich ST, Nicholson GA, Blair IP.

J Neurol Neurosurg Psychiatry. 2009 Nov;80(11):1286-8. doi: 10.1136/jnnp.2008.163261.

PMID:
19864664
7.

Recessively inherited amyotrophic lateral sclerosis: a Germany family with the D90A CuZn-SOD mutation.

Winter SM, Claus A, Oberwittler C, Völkel H, Wenzler S, Ludolph AC.

J Neurol. 2000 Oct;247(10):783-6.

PMID:
11127534
8.

Identification of a novel D109Y mutation in Cu/Zn superoxide dismutase (sod1) gene associated with amyotrophic lateral sclerosis.

Naini A, Mehrazin M, Lu J, Gordon P, Mitsumoto H.

J Neurol Sci. 2007 Mar 15;254(1-2):17-21. Epub 2007 Jan 25.

PMID:
17257622
9.

Two novel mutations in the gene for copper zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis.

Enayat ZE, Orrell RW, Claus A, Ludolph A, Bachus R, Brockmüller J, Ray-Chaudhuri K, Radunovic A, Shaw C, Wilkinson J, et al.

Hum Mol Genet. 1995 Jul;4(7):1239-40. No abstract available.

PMID:
8528216
10.

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.

11.

Mutations in all five exons of SOD-1 may cause ALS.

Shaw CE, Enayat ZE, Chioza BA, Al-Chalabi A, Radunovic A, Powell JF, Leigh PN.

Ann Neurol. 1998 Mar;43(3):390-4.

PMID:
9506558
12.

Autosomal dominant amyotrophic lateral sclerosis: a novel mutation in the Cu/Zn superoxide dismutase-1 gene.

Kostrzewa M, Burck-Lehmann U, Müller U.

Hum Mol Genet. 1994 Dec;3(12):2261-2. No abstract available.

PMID:
7881433
13.

Clinical phenotypes of a large Chinese multigenerational kindred with autosomal dominant familial ALS due to Ile149Thr SOD1 gene mutation.

Fong GC, Kwok KH, Song YQ, Cheng TS, Ho PW, Chu AC, Kung MH, Chan KH, Mak W, Cheung RT, Ramsden DB, Ho SL.

Amyotroph Lateral Scler. 2006 Sep;7(3):142-9.

PMID:
16963403
14.

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis.

Kabashi E, Valdmanis PN, Dion P, Spiegelman D, McConkey BJ, Vande Velde C, Bouchard JP, Lacomblez L, Pochigaeva K, Salachas F, Pradat PF, Camu W, Meininger V, Dupre N, Rouleau GA.

Nat Genet. 2008 May;40(5):572-4. doi: 10.1038/ng.132. Epub 2008 Mar 30.

PMID:
18372902
15.

TDP-43 mutation in familial amyotrophic lateral sclerosis.

Yokoseki A, Shiga A, Tan CF, Tagawa A, Kaneko H, Koyama A, Eguchi H, Tsujino A, Ikeuchi T, Kakita A, Okamoto K, Nishizawa M, Takahashi H, Onodera O.

Ann Neurol. 2008 Apr;63(4):538-42. doi: 10.1002/ana.21392.

PMID:
18438952
16.

CuZn-superoxide dismutase gene in sporadic amyotrophic lateral sclerosis patients from Russia: Asp90Ala (D90A) mutation and novel rare polymorphism IVS3+35 A>C.

Slominsky PA, Shadrina MI, Kondratyeva EA, Tupitsina TV, Levitsky GN, Skvortsova VI, Limborska SA.

Hum Mutat. 2000 Sep;16(3):277-8. No abstract available.

PMID:
10980551
17.

Amyotrophic lateral sclerosis with mutation of the Cu/Zn superoxide dismutase gene (SOD1) in a patient with Down syndrome.

Marucci G, Morandi L, Bartolomei I, Salvi F, Pession A, Righi A, Lauria G, Foschini MP.

Neuromuscul Disord. 2007 Oct;17(9-10):673-6. Epub 2007 Jul 10.

PMID:
17624778
18.

Familial ALS with G298S mutation in TARDBP: a comparison of CSF tau protein levels with those in sporadic ALS.

Nozaki I, Arai M, Takahashi K, Hamaguchi T, Yoshikawa H, Muroishi T, Noguchi-Shinohara M, Ito H, Itokawa M, Akiyama H, Kawata A, Yamada M.

Intern Med. 2010;49(12):1209-12. Epub 2010 Jun 15.

19.

Anticipation in familial amyotrophic lateral sclerosis with SOD1-G93S mutation.

Iwai K, Yamamoto M, Yoshihara T, Sobue G.

J Neurol Neurosurg Psychiatry. 2002 Jun;72(6):819-20. No abstract available.

20.

Clinical characteristics of familial amyotrophic lateral sclerosis with a Phe20Cys mutation in the SOD1 gene in a Korean family.

Kim HY, Ki CS, Koh SH, Park KH, Sunwoo IN, Kim SH.

Amyotroph Lateral Scler. 2007 Apr;8(2):73-8.

PMID:
17453632
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