Del-Favero J - Search Results

1

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. Neurology. 2004 Dec 14;63(11):2155-8. doi: 10.1212/01.wnl.0000145629.94338.89. Neurology. 2004. PMID: 15596769

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. 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

Familial occipitotemporal lobe epilepsy and migraine with visual aura: linkage to chromosome 9q.

Deprez L, Peeters K, Van Paesschen W, Claeys KG, Claes LR, Suls A, Audenaert D, Van Dyck T, Goossens D, Del-Favero J, De Jonghe P. Deprez L, et al. Neurology. 2007 Jun 5;68(23):1995-2002. doi: 10.1212/01.wnl.0000262764.78511.17. Epub 2007 Apr 25. Neurology. 2007. PMID: 17460155

4

Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations.

Deprez L, Weckhuysen S, Holmgren P, Suls A, Van Dyck T, Goossens D, Del-Favero J, Jansen A, Verhaert K, Lagae L, Jordanova A, Van Coster R, Yendle S, Berkovic SF, Scheffer I, Ceulemans B, De Jonghe P. Deprez L, et al. Neurology. 2010 Sep 28;75(13):1159-65. doi: 10.1212/WNL.0b013e3181f4d7bf. Neurology. 2010. PMID: 20876469

5

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. 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

6

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. 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.

7

Mutations in SACS cause atypical and late-onset forms of ARSACS.

Baets J, Deconinck T, Smets K, Goossens D, Van den Bergh P, Dahan K, Schmedding E, Santens P, Rasic VM, Van Damme P, Robberecht W, De Meirleir L, Michielsens B, Del-Favero J, Jordanova A, De Jonghe P. Baets J, et al. Neurology. 2010 Sep 28;75(13):1181-8. doi: 10.1212/WNL.0b013e3181f4d86c. Neurology. 2010. PMID: 20876471

8

Trinucleotide repeat expansions: do they contribute to bipolar disorder?

Goossens D, Del-Favero J, Van Broeckhoven C. Goossens D, et al. 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.

9

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. Hum Genet. 1999 Nov;105(5):410-7. doi: 10.1007/s004390051123. Hum Genet. 1999. PMID: 10598805

10

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

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