Del Favero J - Search Results

1

Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E.

De Jonghe P, Mersivanova I, Nelis E, Del Favero J, Martin JJ, Van Broeckhoven C, Evgrafov O, Timmerman V. De Jonghe P, et al. Among authors: del favero j. Ann Neurol. 2001 Feb;49(2):245-9. doi: 10.1002/1531-8249(20010201)49:2<245::aid-ana45>3.0.co;2-a. Ann Neurol. 2001. PMID: 11220745

2

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: del favero j. 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.

3

De novo KCNQ2 mutations in patients with benign neonatal seizures.

Claes LR, Ceulemans B, Audenaert D, Deprez L, Jansen A, Hasaerts D, Weckx S, Claeys KG, Del-Favero J, Van Broeckhoven C, De Jonghe P. Claes LR, et al. Among authors: del favero j. Neurology. 2004 Dec 14;63(11):2155-8. doi: 10.1212/01.wnl.0000145629.94338.89. Neurology. 2004. PMID: 15596769

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: del favero j. J Neurol Sci. 1999 Sep 15;168(1):37-46. doi: 10.1016/s0022-510x(99)00176-8. J Neurol Sci. 1999. PMID: 10500272

Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat Genet 1997;17:65-70; Del-Favero J, Krols L, Michalik A, Theuns J, Lofgren A, Goossens D, et al. Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal …

Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat Genet 1997;17:65-70; Del-Favero J, Krols L …

5

A novel susceptibility locus at 2p24 for generalised epilepsy with febrile seizures plus.

Audenaert D, Claes L, Claeys KG, Deprez L, Van Dyck T, Goossens D, Del-Favero J, Van Paesschen W, Van Broeckhoven C, De Jonghe P. Audenaert D, et al. Among authors: del favero j. J Med Genet. 2005 Dec;42(12):947-52. doi: 10.1136/jmg.2005.031393. Epub 2005 Apr 12. J Med Genet. 2005. PMID: 15827091 Free PMC article.

6

Trinucleotide repeat expansions: do they contribute to bipolar disorder?

Goossens D, Del-Favero J, Van Broeckhoven C. Goossens D, et al. Among authors: del favero j. Brain Res Bull. 2001 Oct-Nov 1;56(3-4):243-57. doi: 10.1016/s0361-9230(01)00657-8. Brain Res Bull. 2001. PMID: 11719258 Review.

7

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. Hum Genet. 1999 Sep;105(3):217-25. doi: 10.1007/s004390051092. Hum Genet. 1999. PMID: 10987648

8

Mutations in SEPT9 cause hereditary neuralgic amyotrophy.

Kuhlenbäumer G, Hannibal MC, Nelis E, Schirmacher A, Verpoorten N, Meuleman J, Watts GD, De Vriendt E, Young P, Stögbauer F, Halfter H, Irobi J, Goossens D, Del-Favero J, Betz BG, Hor H, Kurlemann G, Bird TD, Airaksinen E, Mononen T, Serradell AP, Prats JM, Van Broeckhoven C, De Jonghe P, Timmerman V, Ringelstein EB, Chance PF. Kuhlenbäumer G, et al. Among authors: del favero j. Nat Genet. 2005 Oct;37(10):1044-6. doi: 10.1038/ng1649. Epub 2005 Sep 25. Nat Genet. 2005. PMID: 16186812

9

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. Hum Mol Genet. 1998 Feb;7(2):177-86. doi: 10.1093/hmg/7.2.177. Hum Mol Genet. 1998. PMID: 9425224

10

YAC fragmentation with repetitive and single-copy sequences: detailed physical mapping of the presenilin 1 gene on chromosome 14.

Del-Favero J, Goossens D, Van den Bossche D, Van Broeckhoven C. Del-Favero J, et al. Gene. 1999 Mar 18;229(1-2):193-201. doi: 10.1016/s0378-1119(99)00023-2. Gene. 1999. PMID: 10095119

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