Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 177

1.

Four familial ALS pedigrees discordant for two SOD1 mutations: are all SOD1 mutations pathogenic?

Felbecker A, Camu W, Valdmanis PN, Sperfeld AD, Waibel S, Steinbach P, Rouleau GA, Ludolph AC, Andersen PM.

J Neurol Neurosurg Psychiatry. 2010 May;81(5):572-7. doi: 10.1136/jnnp.2009.192310.

PMID:
20460594
[PubMed - indexed for MEDLINE]
2.

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
[PubMed - indexed for MEDLINE]
3.

Compound heterozygous D90A and D96N SOD1 mutations in a recessive amyotrophic lateral sclerosis family.

Hand CK, Mayeux-Portas V, Khoris J, Briolotti V, Clavelou P, Camu W, Rouleau GA.

Ann Neurol. 2001 Feb;49(2):267-71.

PMID:
11220750
[PubMed - indexed for MEDLINE]
4.

DNA sequence analysis of the conserved region around the SOD1 gene locus in recessively inherited ALS.

Broom WJ, Johnson DV, Garber M, Andersen PM, Lennon N, Landers J, Nusbaum C, Russ C, Brown RH Jr.

Neurosci Lett. 2009 Sep 29;463(1):64-9. doi: 10.1016/j.neulet.2009.07.010. Epub 2009 Jul 9.

PMID:
19596401
[PubMed - indexed for MEDLINE]
5.

Mutational analysis of the Cu/Zn superoxide dismutase gene in a Catalan ALS population: should all sporadic ALS cases also be screened for SOD1?

Gamez J, Corbera-Bellalta M, Nogales G, Raguer N, García-Arumí E, Badia-Canto M, Lladó-Carbó E, Alvarez-Sabín J.

J Neurol Sci. 2006 Aug 15;247(1):21-8. Epub 2006 May 3.

PMID:
16674979
[PubMed - indexed for MEDLINE]
6.

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]
7.

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 15;285(1-2):46-53. doi: 10.1016/j.jns.2009.05.011. Epub 2009 Jun 13.

PMID:
19524271
[PubMed - indexed for MEDLINE]
8.

Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder: evidence for a linked protective factor.

Al-Chalabi A, Andersen PM, Chioza B, Shaw C, Sham PC, Robberecht W, Matthijs G, Camu W, Marklund SL, Forsgren L, Rouleau G, Laing NG, Hurse PV, Siddique T, Leigh PN, Powell JF.

Hum Mol Genet. 1998 Dec;7(13):2045-50.

PMID:
9817920
[PubMed - indexed for MEDLINE]
Free Article
9.

Further evidence that D90A-SOD1 mutation is recessively inherited in ALS patients in Italy.

Luisa Conforti F, Sprovieri T, Mazzei R, Patitucci A, Ungaro C, Zoccolella S, Magariello A, Bella VL, Tessitore A, Tedeschi G, Simone IL, Majorana G, Valentino P, Citrigno L, Gabriele A, Bono F, Monsurrò MR, Muglia M, Quattrone A.

Amyotroph Lateral Scler. 2009 Feb;10(1):58-60. doi: 10.1080/17482960802163853.

PMID:
18608106
[PubMed - indexed for MEDLINE]
10.

D90A-SOD1 mediated amyotrophic lateral sclerosis: a single founder for all cases with evidence for a Cis-acting disease modifier in the recessive haplotype.

Parton MJ, Broom W, Andersen PM, Al-Chalabi A, Nigel Leigh P, Powell JF, Shaw CE; D90A SOD1 ALS Consortium.

Hum Mutat. 2002 Dec;20(6):473.

PMID:
12442272
[PubMed - indexed for MEDLINE]
11.

Preserved slow conducting corticomotoneuronal projections in amyotrophic lateral sclerosis with autosomal recessive D90A CuZn-superoxide dismutase mutation.

Weber M, Eisen A, Stewart HG, Andersen PM.

Brain. 2000 Jul;123 ( Pt 7):1505-15.

PMID:
10869061
[PubMed - indexed for MEDLINE]
Free Article
12.

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]
13.

Variants in candidate ALS modifier genes linked to Cu/Zn superoxide dismutase do not explain divergent survival phenotypes.

Broom WJ, Russ C, Sapp PC, McKenna-Yasek D, Hosler BA, Andersen PM, Brown RH Jr.

Neurosci Lett. 2006 Jan 9;392(1-2):52-7. Epub 2005 Sep 19. Erratum in: Neurosci Lett. 2006 May 22;399(3):273.

PMID:
16174551
[PubMed - indexed for MEDLINE]
14.

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
[PubMed - indexed for MEDLINE]
15.

A mechanism for low penetrance in an ALS family with a novel SOD1 deletion.

Zinman L, Liu HN, Sato C, Wakutani Y, Marvelle AF, Moreno D, Morrison KE, Mohlke KL, Bilbao J, Robertson J, Rogaeva E.

Neurology. 2009 Mar 31;72(13):1153-9. doi: 10.1212/01.wnl.0000345363.65799.35.

PMID:
19332692
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

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
[PubMed - indexed for MEDLINE]
17.

The human G93A SOD1 phenotype closely resembles sporadic amyotrophic lateral sclerosis.

Synofzik M, Fernández-Santiago R, Maetzler W, Schöls L, Andersen PM.

J Neurol Neurosurg Psychiatry. 2010 Jul;81(7):764-7. doi: 10.1136/jnnp.2009.181719. Epub 2010 Feb 22.

PMID:
20176600
[PubMed - indexed for MEDLINE]
18.

Genetics of ALS in Italian families.

Gellera C.

Amyotroph Lateral Scler Other Motor Neuron Disord. 2001 Mar;2 Suppl 1:S43-6.

PMID:
11465924
[PubMed - indexed for MEDLINE]
19.

D90A-SOD1 mutation in ALS: The first report of heterozygous Italian patients and unusual findings.

Giannini F, Battistini S, Mancuso M, Greco G, Ricci C, Volpi N, Del Corona A, Piazza S, Siciliano G.

Amyotroph Lateral Scler. 2010;11(1-2):216-9. doi: 10.3109/17482960902721642.

PMID:
20184519
[PubMed - indexed for MEDLINE]
20.

ALS patients with mutations in the SOD1 gene have an unique metabolomic profile in the cerebrospinal fluid compared with ALS patients without mutations.

Wuolikainen A, Andersen PM, Moritz T, Marklund SL, Antti H.

Mol Genet Metab. 2012 Mar;105(3):472-8. doi: 10.1016/j.ymgme.2011.11.201. Epub 2011 Dec 10.

PMID:
22264771
[PubMed - indexed for MEDLINE]

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk