De Jonghe P - Search Results

1

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. Among authors: de meirleir l, de jonghe p. Neurology. 2010 Sep 28;75(13):1181-8. doi: 10.1212/WNL.0b013e3181f4d86c. Neurology. 2010. PMID: 20876471

2

Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2 families with chromosomes 1p35-p36 and Xq13.

Timmerman V, De Jonghe P, Spoelders P, Simokovic S, Löfgren A, Nelis E, Vance J, Martin JJ, Van Broeckhoven C. Timmerman V, et al. Among authors: de jonghe p. Neurology. 1996 May;46(5):1311-8. doi: 10.1212/wnl.46.5.1311. Neurology. 1996. PMID: 8628473

3

The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype.

De Jonghe P, Timmerman V, Ceuterick C, Nelis E, De Vriendt E, Löfgren A, Vercruyssen A, Verellen C, Van Maldergem L, Martin JJ, Van Broeckhoven C. De Jonghe P, et al. Among authors: de vriendt e. Brain. 1999 Feb;122 ( Pt 2):281-90. doi: 10.1093/brain/122.2.281. Brain. 1999. PMID: 10071056

4

Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype.

Timmerman V, De Jonghe P, Ceuterick C, De Vriendt E, Löfgren A, Nelis E, Warner LE, Lupski JR, Martin JJ, Van Broeckhoven C. Timmerman V, et al. Among authors: de jonghe p, de vriendt e. Neurology. 1999 Jun 10;52(9):1827-32. doi: 10.1212/wnl.52.9.1827. Neurology. 1999. PMID: 10371530

5

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

6

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

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: de jonghe p. 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

Autosomal dominant juvenile amyotrophic lateral sclerosis and distal hereditary motor neuronopathy with pyramidal tract signs: synonyms for the same disorder?

De Jonghe P, Auer-Grumbach M, Irobi J, Wagner K, Plecko B, Kennerson M, Zhu D, De Vriendt E, Van Gerwen V, Nicholson G, Hartung HP, Timmerman V. De Jonghe P, et al. Among authors: de vriendt e. Brain. 2002 Jun;125(Pt 6):1320-5. doi: 10.1093/brain/awf127. Brain. 2002. PMID: 12023320

9

Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy.

Nelis E, Erdem S, Van Den Bergh PY, Belpaire-Dethiou MC, Ceuterick C, Van Gerwen V, Cuesta A, Pedrola L, Palau F, Gabreëls-Festen AA, Verellen C, Tan E, Demirci M, Van Broeckhoven C, De Jonghe P, Topaloglu H, Timmerman V. Nelis E, et al. Among authors: de jonghe p. Neurology. 2002 Dec 24;59(12):1865-72. doi: 10.1212/01.wnl.0000036272.36047.54. Neurology. 2002. PMID: 12499475

10

Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.

Jordanova A, De Jonghe P, Boerkoel CF, Takashima H, De Vriendt E, Ceuterick C, Martin JJ, Butler IJ, Mancias P, Papasozomenos SCh, Terespolsky D, Potocki L, Brown CW, Shy M, Rita DA, Tournev I, Kremensky I, Lupski JR, Timmerman V. Jordanova A, et al. Among authors: de jonghe p, de vriendt e. Brain. 2003 Mar;126(Pt 3):590-7. doi: 10.1093/brain/awg059. Brain. 2003. PMID: 12566280

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