Robberecht W - Search Results

1

Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis.

Herdewyn S, Zhao H, Moisse M, Race V, Matthijs G, Reumers J, Kusters B, Schelhaas HJ, van den Berg LH, Goris A, Robberecht W, Lambrechts D, Van Damme P. Herdewyn S, et al. Among authors: robberecht w. Hum Mol Genet. 2012 Jun 1;21(11):2412-9. doi: 10.1093/hmg/dds055. Epub 2012 Feb 17. Hum Mol Genet. 2012. PMID: 22343411 Free PMC article.

2

Cu/Zn superoxide dismutase activity in familial and sporadic amyotrophic lateral sclerosis.

Robberecht W, Sapp P, Viaene MK, Rosen D, McKenna-Yasek D, Haines J, Horvitz R, Theys P, Brown R Jr. Robberecht W, et al. J Neurochem. 1994 Jan;62(1):384-7. doi: 10.1046/j.1471-4159.1994.62010384.x. J Neurochem. 1994. PMID: 8263541

3

Molecular genetic analysis of the 17p11.2 region in patients with hereditary neuropathy with liability to pressure palsies (HNPP).

Timmerman V, Löfgren A, Le Guern E, Liang P, De Jonghe P, Martin JJ, Verhalle D, Robberecht W, Gouider R, Brice A, Van Broeckhoven C. Timmerman V, et al. Among authors: robberecht w. Hum Genet. 1996 Jan;97(1):26-34. doi: 10.1007/BF00218828. Hum Genet. 1996. PMID: 8557256

4

D90A heterozygosity in the SOD1 gene is associated with familial and apparently sporadic amyotrophic lateral sclerosis.

Robberecht W, Aguirre T, Van den Bosch L, Tilkin P, Cassiman JJ, Matthijs G. Robberecht W, et al. Neurology. 1996 Nov;47(5):1336-9. doi: 10.1212/wnl.47.5.1336. Neurology. 1996. PMID: 8909456

5

Familial juvenile focal amyotrophy of the upper extremity (Hirayama disease). Superoxide dismutase 1 genotype and activity.

Robberecht W, Aguirre T, Van den Bosch L, Theys P, Nees H, Cassiman JJ, Matthijs G. Robberecht W, et al. Arch Neurol. 1997 Jan;54(1):46-50. doi: 10.1001/archneur.1997.00550130032012. Arch Neurol. 1997. PMID: 9006413

6

Increased sensitivity of fibroblasts from amyotrophic lateral sclerosis patients to oxidative stress.

Aguirre T, Van Den Bosch L, Goetschalckx K, Tilkin P, Mathijs G, Cassiman JJ, Robberecht W. Aguirre T, et al. Among authors: robberecht w. Ann Neurol. 1998 Apr;43(4):452-7. doi: 10.1002/ana.410430407. Ann Neurol. 1998. PMID: 9546325

7

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. Al-Chalabi A, et al. Among authors: robberecht w. Hum Mol Genet. 1998 Dec;7(13):2045-50. doi: 10.1093/hmg/7.13.2045. Hum Mol Genet. 1998. PMID: 9817920

8

Mutational analysis of the Cu/Zn superoxide dismutase gene in 23 familial and 69 sporadic cases of amyotrophic lateral sclerosis in Belgium.

Aguirre T, Matthijs G, Robberecht W, Tilkin P, Cassiman JJ. Aguirre T, et al. Among authors: robberecht w. Eur J Hum Genet. 1999 Jul;7(5):599-602. doi: 10.1038/sj.ejhg.5200337. Eur J Hum Genet. 1999. PMID: 10439968

9

A novel 7.4 kb mitochondrial deletion in a patient with congenital progressive external ophthalmoplegia, muscle weakness and mental retardation.

Tabaku M, Legius E, Robberecht W, Sciot R, Fryns JP, Cassiman JJ, Matthijs G. Tabaku M, et al. Among authors: robberecht w. Genet Couns. 1999;10(3):285-93. Genet Couns. 1999. PMID: 10546101

10

Oxidative stress in amyotrophic lateral sclerosis.

Robberecht W. Robberecht W. J Neurol. 2000 Mar;247 Suppl 1:I1-6. doi: 10.1007/s004150050551. J Neurol. 2000. PMID: 10795881 Review.

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