De Jonghe P - Search Results

1

Ulcero-mutilating neuropathy in an Austrian kinship without linkage to hereditary motor and sensory neuropathy IIB and hereditary sensory neuropathy I loci.

Auer-Grumbach M, Wagner K, Timmerman V, De Jonghe P, Hartung HP. Auer-Grumbach M, et al. Among authors: de jonghe p. Neurology. 2000 Jan 11;54(1):45-52. doi: 10.1212/wnl.54.1.45. Neurology. 2000. PMID: 10636124

2

Autosomal dominant inherited neuropathies with prominent sensory loss and mutilations: a review.

Auer-Grumbach M, De Jonghe P, Verhoeven K, Timmerman V, Wagner K, Hartung HP, Nicholson GA. Auer-Grumbach M, et al. Among authors: de jonghe p. Arch Neurol. 2003 Mar;60(3):329-34. doi: 10.1001/archneur.60.3.329. Arch Neurol. 2003. PMID: 12633143 Review.

3

A novel type of hereditary motor and sensory neuropathy characterized by a mild phenotype.

De Jonghe P, Timmerman V, Nelis E, De Vriendt E, Löfgren A, Ceuterick C, Martin JJ, Van Broeckhoven C. De Jonghe P, et al. Among authors: de vriendt e. Arch Neurol. 1999 Oct;56(10):1283-8. doi: 10.1001/archneur.56.10.1283. Arch Neurol. 1999. PMID: 10520946

4

Phenotype-genotype correlations in a CMT2B family with refined 3q13-q22 locus.

Auer-Grumbach M, De Jonghe P, Wagner K, Verhoeven K, Hartung HP, Timmerman V. Auer-Grumbach M, et al. Among authors: de jonghe p. Neurology. 2000 Nov 28;55(10):1552-7. doi: 10.1212/wnl.55.10.1552. Neurology. 2000. PMID: 11094113

5

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

6

Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II.

Coen K, Pareyson D, Auer-Grumbach M, Buyse G, Goemans N, Claeys KG, Verpoorten N, Laurà M, Scaioli V, Salmhofer W, Pieber TR, Nelis E, De Jonghe P, Timmerman V. Coen K, et al. Among authors: de jonghe p. Neurology. 2006 Mar 14;66(5):748-51. doi: 10.1212/01.wnl.0000201191.57519.47. Neurology. 2006. PMID: 16534117

7

Exclusion of serine palmitoyltransferase long chain base subunit 2 (SPTLC2) as a common cause for hereditary sensory neuropathy.

Dawkins JL, Brahmbhatt S, Auer-Grumbach M, Wagner K, Hartung HP, Verhoeven K, Timmerman V, De Jonghe P, Kennerson M, LeGuern E, Nicholson GA. Dawkins JL, et al. Among authors: de jonghe p. Neuromuscul Disord. 2002 Oct;12(7-8):656-8. doi: 10.1016/s0960-8966(02)00015-9. Neuromuscul Disord. 2002. PMID: 12207934

8

Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.

Windpassinger C, Auer-Grumbach M, Irobi J, Patel H, Petek E, Hörl G, Malli R, Reed JA, Dierick I, Verpoorten N, Warner TT, Proukakis C, Van den Bergh P, Verellen C, Van Maldergem L, Merlini L, De Jonghe P, Timmerman V, Crosby AH, Wagner K. Windpassinger C, et al. Among authors: de jonghe p. Nat Genet. 2004 Mar;36(3):271-6. doi: 10.1038/ng1313. Epub 2004 Feb 22. Nat Genet. 2004. PMID: 14981520

9

Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.

Evgrafov OV, Mersiyanova I, Irobi J, Van Den Bosch L, Dierick I, Leung CL, Schagina O, Verpoorten N, Van Impe K, Fedotov V, Dadali E, Auer-Grumbach M, Windpassinger C, Wagner K, Mitrovic Z, Hilton-Jones D, Talbot K, Martin JJ, Vasserman N, Tverskaya S, Polyakov A, Liem RK, Gettemans J, Robberecht W, De Jonghe P, Timmerman V. Evgrafov OV, et al. Among authors: de jonghe p. Nat Genet. 2004 Jun;36(6):602-6. doi: 10.1038/ng1354. Epub 2004 May 2. Nat Genet. 2004. PMID: 15122254

10

SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve.

Bennett CL, Shirk AJ, Huynh HM, Street VA, Nelis E, Van Maldergem L, De Jonghe P, Jordanova A, Guergueltcheva V, Tournev I, Van Den Bergh P, Seeman P, Mazanec R, Prochazka T, Kremensky I, Haberlova J, Weiss MD, Timmerman V, Bird TD, Chance PF. Bennett CL, et al. Among authors: de jonghe p. Ann Neurol. 2004 May;55(5):713-20. doi: 10.1002/ana.20094. Ann Neurol. 2004. PMID: 15122712

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