115 related articles for article (PubMed ID: 21755517)
1. Confirmation of the severe phenotypic effect of serine at codon 41 of the superoxide dismutase 1 gene.
Subramony SH; Ashizawa T; Langford L; McKenna R; Avvaru B; Siddique T; Vedanarayanan V
Muscle Nerve; 2011 Oct; 44(4):499-502. PubMed ID: 21755517
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 15789135
[TBL] [Abstract][Full Text] [Related]
3. Familial amyotrophic lateral sclerosis with a novel G85S mutation of superoxide dismutase 1 gene: clinical features of lower motor neuron disease.
Takazawa T; Ikeda K; Hirayama T; Kawabe K; Nakamura Y; Ito H; Kano O; Yoshii Y; Tanaka F; Sobue G; Iwasaki Y
Intern Med; 2010; 49(2):183-6. PubMed ID: 20075587
[TBL] [Abstract][Full Text] [Related]
4. Recurrent G41S mutation in Cu/Zn superoxide dismutase gene (SOD1) causing familial amyotrophic lateral sclerosis in a large Polish family.
Berdyński M; Kuźma-Kozakiewicz M; Ricci C; Kubiszewska J; Millecamps S; Salachas F; Łusakowska A; Carrera P; Meininger V; Battistini S; Kwieciński H; Zekanowski C
Amyotroph Lateral Scler; 2012 Jan; 13(1):132-6. PubMed ID: 21877919
[TBL] [Abstract][Full Text] [Related]
5. Severe familial ALS with a novel exon 4 mutation (L106F) in the SOD1 gene.
Battistini S; Ricci C; Lotti EM; Benigni M; Gagliardi S; Zucco R; Bondavalli M; Marcello N; Ceroni M; Cereda C
J Neurol Sci; 2010 Jun; 293(1-2):112-5. PubMed ID: 20385392
[TBL] [Abstract][Full Text] [Related]
6. Fast course ALS presenting with vocal cord paralysis: clinical features, bioinformatic and modelling analysis of the novel SOD1 Gly147Ser mutation.
Origone P; Caponnetto C; Mantero V; Cichero E; Fossa P; Geroldi A; Verdiani S; Bellone E; Mancardi G; Mandich P
Amyotroph Lateral Scler; 2012 Jan; 13(1):144-8. PubMed ID: 21929355
[TBL] [Abstract][Full Text] [Related]
7. A novel p.E121G heterozygous missense mutation of SOD1 in an apparently sporadic ALS case with a 14-year course.
Canosa A; Calvo A; Moglia C; Barberis M; Brunetti M; Cammarosano S; Manera U; Ilardi A; Restagno G; Chiò A
Amyotroph Lateral Scler Frontotemporal Degener; 2015 Mar; 16(1-2):127-8. PubMed ID: 25299943
[TBL] [Abstract][Full Text] [Related]
8. A novel T137A SOD1 mutation in an Italian family with two subjects affected by amyotrophic lateral sclerosis.
Visani M; de Biase D; Bartolomei I; Plasmati R; Morandi L; Cenacchi G; Salvi F; Pession A
Amyotroph Lateral Scler; 2011 Sep; 12(5):385-8. PubMed ID: 21574856
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 17624778
[TBL] [Abstract][Full Text] [Related]
10. A novel SOD1 mutation in amyotrophic lateral sclerosis with a distinct clinical phenotype.
Hu J; Chen K; Ni B; Li L; Chen G; Shi S
Amyotroph Lateral Scler; 2012 Jan; 13(1):149-54. PubMed ID: 22185396
[TBL] [Abstract][Full Text] [Related]
11. The p.E22G mutation in the Cu/Zn superoxide-dismutase gene predicts a long survival time: clinical and genetic characterization of a seven-generation ALS1 Spanish pedigree.
Syriani E; Morales M; Gamez J
J Neurol Sci; 2009 Oct; 285(1-2):46-53. PubMed ID: 19524271
[TBL] [Abstract][Full Text] [Related]
12. A novel ALS SOD1 C6S mutation with implications for aggregation related toxicity and genetic counseling.
Brotherton T; Polak M; Kelly C; Birve A; Andersen P; Marklund SL; Glass JD
Amyotroph Lateral Scler; 2011 May; 12(3):215-9. PubMed ID: 21073275
[TBL] [Abstract][Full Text] [Related]
13. SOD1 missense mutation in an Italian family with ALS.
Rainero I; Pinessi L; Tsuda T; Vignocchi MG; Vaula G; Calvi L; Cerrato P; Rossi B; Bergamini L; McLachlan DR
Neurology; 1994 Feb; 44(2):347-9. PubMed ID: 8309590
[TBL] [Abstract][Full Text] [Related]
14. Novel SOD1 N86K mutation is associated with a severe phenotype in familial ALS.
Beck M; Sendtner M; Toyka KV
Muscle Nerve; 2007 Jul; 36(1):111-4. PubMed ID: 17299743
[TBL] [Abstract][Full Text] [Related]
15. ALS with variable phenotypes in a six-generation family caused by leu144phe mutation in the SOD1 gene.
Masè G; Ros S; Gemma A; Bonfigli L; Carraro N; Cazzato G; Rolfo M; Zanconati F; Sepcic J; Jurjevic A; Pirulli D; Boniotto M; Zezlina S; Crovella S; Amoroso A
J Neurol Sci; 2001 Oct; 191(1-2):11-8. PubMed ID: 11676987
[TBL] [Abstract][Full Text] [Related]
16. [Identification of the mutation of SOD1 gene in a familial amyotrophic lateral sclerosis].
Shi SG; Li LS; Chen KN; Liu X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2004 Apr; 21(2):149-52. PubMed ID: 15079798
[TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 12210393
[TBL] [Abstract][Full Text] [Related]
18. A novel exon 1 mutation (G10R) in the SOD1 gene in a patient with familial ALS.
Ricci C; Benigni M; Battistini S; Greco G; Torzini A; Giannini F
Amyotroph Lateral Scler; 2010 Oct; 11(5):481-5. PubMed ID: 20331403
[TBL] [Abstract][Full Text] [Related]
19. Clinicopathological phenotype of ALS with a novel G72C SOD1 gene mutation mimicking a myopathy.
Stewart HG; Mackenzie IR; Eisen A; Brännström T; Marklund SL; Andersen PM
Muscle Nerve; 2006 May; 33(5):701-6. PubMed ID: 16435343
[TBL] [Abstract][Full Text] [Related]
20. G41S SOD1 mutation: A common ancestor for six ALS Italian families with an aggressive phenotype.
Battistini S; Ricci C; Giannini F; Calzavara S; Greco G; Del Corona A; Mancuso M; Battistini N; Siciliano G; Carrera P
Amyotroph Lateral Scler; 2010; 11(1-2):210-5. PubMed ID: 19488901
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]