Van Broeckhoven C - Search Results

1

Genomic organisation of the spinocerebellar ataxia type 7 (SCA7) gene responsible for autosomal dominant cerebellar ataxia with retinal degeneration.

Michalík A, Del-Favero J, Mauger C, Löfgren A, Van Broeckhoven C. Michalík A, et al. Among authors: van broeckhoven c. Hum Genet. 1999 Nov;105(5):410-7. doi: 10.1007/s004390051123. Hum Genet. 1999. PMID: 10598805

2

Refinement of the locus for autosomal dominant cerebellar ataxia type II to chromosome 3p21.1-14.1.

Krols L, Martin JJ, David G, Van Regemorter N, Benomar A, Löfgren A, Stevanin G, Dürr A, Brice A, Van Broeckhoven C. Krols L, et al. Among authors: van regemorter n, van broeckhoven c. Hum Genet. 1997 Feb;99(2):225-32. doi: 10.1007/s004390050344. Hum Genet. 1997. PMID: 9048926

3

Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion.

Del-Favero J, Krols L, Michalik A, Theuns J, Löfgren A, Goossens D, Wehnert A, Van den Bossche D, Van Zand K, Backhovens H, van Regenmorter N, Martin JJ, Van Broeckhoven C. Del-Favero J, et al. Among authors: van regenmorter n, van den bossche d, van broeckhoven c, van zand k. Hum Mol Genet. 1998 Feb;7(2):177-86. doi: 10.1093/hmg/7.2.177. Hum Mol Genet. 1998. PMID: 9425224

4

Spinocerebellar ataxia type 7 (SCA7) - correlations between phenotype and genotype in one large Belgian family.

Martin J, Van Regemorter N, Del-Favero J, Löfgren A, Van Broeckhoven C. Martin J, et al. Among authors: van regemorter n, van broeckhoven c. J Neurol Sci. 1999 Sep 15;168(1):37-46. doi: 10.1016/s0022-510x(99)00176-8. J Neurol Sci. 1999. PMID: 10500272

5

No evidence for the involvement of CAG/CTG repeats from within 18q21.33-q23 in bipolar disorder.

Goossens D, Villafuerte S, Tissir F, Van Gestel S, Claes S, Souery D, Massat I, Van den Bossche D, Van Zand K, Mendlewicz J, Van Broeckhoven C, Del-Favero J. Goossens D, et al. Among authors: van gestel s, van den bossche d, van broeckhoven c, van zand k. Eur J Hum Genet. 2000 May;8(5):385-8. doi: 10.1038/sj.ejhg.5200469. Eur J Hum Genet. 2000. PMID: 10854100

6

Isolation of CAG/CTG repeats from within the chromosome 2p21-p24 locus for autosomal dominant spastic paraplegia (SPG4) by YAC fragmentation.

Del-Favero J, Goossens D, De Jonghe P, Benson K, Michalik A, Van den Bossche D, Horwitz M, Van Broeckhoven C. Del-Favero J, et al. Among authors: van den bossche d, van broeckhoven c. Hum Genet. 1999 Sep;105(3):217-25. doi: 10.1007/s004390051092. Hum Genet. 1999. PMID: 10987648

7

De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.

Claes L, Del-Favero J, Ceulemans B, Lagae L, Van Broeckhoven C, De Jonghe P. Claes L, et al. Among authors: van broeckhoven c. Am J Hum Genet. 2001 Jun;68(6):1327-32. doi: 10.1086/320609. Epub 2001 May 15. Am J Hum Genet. 2001. PMID: 11359211 Free PMC article.

8

Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy.

Michalik A, Martin JJ, Van Broeckhoven C. Michalik A, et al. Among authors: van broeckhoven c. Eur J Hum Genet. 2004 Jan;12(1):2-15. doi: 10.1038/sj.ejhg.5201108. Eur J Hum Genet. 2004. PMID: 14571264 Review.

9

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: van broeckhoven c. Hum Genet. 1996 Jan;97(1):26-34. doi: 10.1007/BF00218828. Hum Genet. 1996. PMID: 8557256

10

Distal hereditary motor neuropathy type II (distal HMN II): mapping of a locus to chromosome 12q24.

Timmerman V, De Jonghe P, Simokovic S, Löfgren A, Beuten J, Nelis E, Ceuterick C, Martin JJ, Van Broeckhoven C. Timmerman V, et al. Among authors: van broeckhoven c. Hum Mol Genet. 1996 Jul;5(7):1065-9. doi: 10.1093/hmg/5.7.1065. Hum Mol Genet. 1996. PMID: 8817349

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