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Results: 1 to 20 of 94

1.

T137A variant is a pathogenetic SOD1 mutation associated with a slowly progressive ALS phenotype.

Origone P, Caponnetto C, Verdiani S, Mantero V, Cichero E, Fossa P, Bellone E, Mancardi G, Mandich P.

Amyotroph Lateral Scler. 2012 Jun;13(4):398-9. doi: 10.3109/17482968.2012.684216. No abstract available.

PMID:
22632445
[PubMed - indexed for MEDLINE]
2.

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. doi: 10.3109/17482968.2011.582648. Epub 2011 May 16.

PMID:
21574856
[PubMed - indexed for MEDLINE]
3.

Amyotrophic lateral sclerosis: a new missense mutation in the SOD1 gene.

Tortelli R, Conforti FL, Cortese R, D'Errico E, Distaso E, Mazzei R, Ungaro C, Magariello A, Gambardella A, Logroscino G, Simone IL.

Neurobiol Aging. 2013 Jun;34(6):1709.e3-5. doi: 10.1016/j.neurobiolaging.2012.10.027. Epub 2012 Nov 22.

PMID:
23182243
[PubMed - indexed for MEDLINE]
4.

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
[PubMed - indexed for MEDLINE]
5.

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
[PubMed - indexed for MEDLINE]
6.

A novel exon 3 mutation (D76V) in the SOD1 gene associated with slowly progressive ALS.

Segovia-Silvestre T, Andreu AL, Vives-Bauza C, Garcia-Arumi E, Cervera C, Gamez J.

Amyotroph Lateral Scler Other Motor Neuron Disord. 2002 Jun;3(2):69-74.

PMID:
12215228
[PubMed - indexed for MEDLINE]
7.

A novel SOD1 mutation in a young amyotrophic lateral sclerosis patient with a very slowly progressive clinical course.

Georgoulopoulou E, Gellera C, Bragato C, Sola P, Chiari A, Bernabei C, Mandrioli J.

Muscle Nerve. 2010 Oct;42(4):596-7. doi: 10.1002/mus.21750.

PMID:
20740631
[PubMed - indexed for MEDLINE]
8.

Autonomic failure in ALS with a novel SOD1 gene mutation.

Shimizu T, Kawata A, Kato S, Hayashi M, Takamoto K, Hayashi H, Hirai S, Yamaguchi S, Komori T, Oda M.

Neurology. 2000 Apr 11;54(7):1534-7.

PMID:
10751275
[PubMed - indexed for MEDLINE]
9.

D11Y SOD1 mutation and benign ALS: a consistent genotype-phenotype correlation.

Del Grande A, Conte A, Lattante S, Luigetti M, Marangi G, Zollino M, Madia F, Bisogni G, Sabatelli M.

J Neurol Sci. 2011 Oct 15;309(1-2):31-3. doi: 10.1016/j.jns.2011.07.041. Epub 2011 Aug 11.

PMID:
21839474
[PubMed - indexed for MEDLINE]
10.

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 15;191(1-2):11-8.

PMID:
11676987
[PubMed - indexed for MEDLINE]
11.

A novel L67P SOD1 mutation in an Italian ALS patient.

del Grande A, Luigetti M, Conte A, Mancuso I, Lattante S, Marangi G, Stipa G, Zollino M, Sabatelli M.

Amyotroph Lateral Scler. 2011 Mar;12(2):150-2. doi: 10.3109/17482968.2011.551939. Epub 2011 Jan 19.

PMID:
21247266
[PubMed - indexed for MEDLINE]
12.

Clinical features and Cu/Zn superoxide dismutase gene mutations in two mainland Chinese families with amyotrophic lateral sclerosis.

Zhao G, Yin X, Wu D, Mao S, Yin H, Zhang B.

Int J Neurosci. 2011 Apr;121(4):191-5. doi: 10.3109/00207454.2010.542841.

PMID:
21329474
[PubMed - indexed for MEDLINE]
13.

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
[PubMed - indexed for MEDLINE]
14.

An ALS case with a novel D90N-SOD1 heterozygous missense mutation.

Calvo A, Ilardi A, Moglia C, Canosa A, Carrara G, Valentini C, Ossola I, Brunetti M, Restagno G, Chiò A.

Amyotroph Lateral Scler. 2012 Jun;13(4):393-5. doi: 10.3109/17482968.2012.673170.

PMID:
22632444
[PubMed - indexed for MEDLINE]
15.

SOD1 gene mutations in Italian patients with Sporadic Amyotrophic Lateral Sclerosis (ALS).

Corrado L, D'Alfonso S, Bergamaschi L, Testa L, Leone M, Nasuelli N, Momigliano-Richiardi P, Mazzini L.

Neuromuscul Disord. 2006 Nov;16(11):800-4. Epub 2006 Sep 6.

PMID:
16952453
[PubMed - indexed for MEDLINE]
16.

Heterozygous S44L missense change of the spastin gene in amyotrophic lateral sclerosis.

Münch C, Rolfs A, Meyer T.

Amyotroph Lateral Scler. 2008 Aug;9(4):251-3. doi: 10.1080/17482960801900172.

PMID:
18608088
[PubMed - indexed for MEDLINE]
17.

D90A-SOD1 ALS mimicking monoclonal gammopathy-associated ALS.

Synofzik M, Hagen JM, Biskup S, Schöls L.

Amyotroph Lateral Scler. 2012 May;13(3):326-7. doi: 10.3109/17482968.2012.656312. Epub 2012 Mar 13. No abstract available.

PMID:
22409356
[PubMed - indexed for MEDLINE]
18.

Novel SOD1 mutation discovered in atypical ALS by whole exome sequencing.

Klein CJ, Wu Y, Duan X, Middha S, Dawson BD, Kocher JP, Dyck PJ.

J Neurol Neurosurg Psychiatry. 2013 Aug;84(8):943-4. doi: 10.1136/jnnp-2013-305400. Epub 2013 Jun 6. No abstract available.

PMID:
23744890
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

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
[PubMed - indexed for MEDLINE]
20.

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.

PMID:
17299743
[PubMed - indexed for MEDLINE]

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