Wagner K - Search Results

1

The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V.

Irobi J, Van den Bergh P, Merlini L, Verellen C, Van Maldergem L, Dierick I, Verpoorten N, Jordanova A, Windpassinger C, De Vriendt E, Van Gerwen V, Auer-Grumbach M, Wagner K, Timmerman V, De Jonghe P. Irobi J, et al. Among authors: wagner k. Brain. 2004 Sep;127(Pt 9):2124-30. doi: 10.1093/brain/awh232. Epub 2004 Jul 8. Brain. 2004. PMID: 15242882

2

Roussy-Lévy syndrome is a phenotypic variant of Charcot-Marie-Tooth syndrome IA associated with a duplication on chromosome 17p11.2.

Auer-Grumbach M, Strasser-Fuchs S, Wagner K, Körner E, Fazekas F. Auer-Grumbach M, et al. Among authors: wagner k. J Neurol Sci. 1998 Jan 21;154(1):72-5. doi: 10.1016/s0022-510x(97)00218-9. J Neurol Sci. 1998. PMID: 9543325

3

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: wagner k. Neurology. 2000 Jan 11;54(1):45-52. doi: 10.1212/wnl.54.1.45. Neurology. 2000. PMID: 10636124

4

[Hereditary motor-sensory neuropathies (Charcot-Marie-Tooth syndrome) and related neuropathies. Current classification and genotype-phenotype correlation].

Auer-Grumbach M, Wagner K, Fazekas F, Löscher WN, Strasser-Fuchs S, Hartung HP. Auer-Grumbach M, et al. Among authors: wagner k. Nervenarzt. 1999 Dec;70(12):1052-61. doi: 10.1007/s001150050539. Nervenarzt. 1999. PMID: 10637810 Review. German.

5

Phenotypic and genotypic heterogeneity in hereditary motor neuronopathy type V: a clinical, electrophysiological and genetic study.

Auer-Grumbach M, Löscher WN, Wagner K, Petek E, Körner E, Offenbacher H, Hartung HP. Auer-Grumbach M, et al. Among authors: wagner k. Brain. 2000 Aug;123 ( Pt 8):1612-23. doi: 10.1093/brain/123.8.1612. Brain. 2000. PMID: 10908191

6

Assignment of the human GABAA receptor delta-subunit gene (GABRD) to chromosome band 1p36.3 distal to marker NIB1364 by radiation hybrid mapping.

Emberger W, Windpassinger C, Petek E, Kroisel PM, Wagner K. Emberger W, et al. Among authors: wagner k. Cytogenet Cell Genet. 2000;89(3-4):281-2. doi: 10.1159/000015636. Cytogenet Cell Genet. 2000. PMID: 10965146 No abstract available.

7

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: wagner k. Neurology. 2000 Nov 28;55(10):1552-7. doi: 10.1212/wnl.55.10.1552. Neurology. 2000. PMID: 11094113

8

Disruption of a novel gene (IMMP2L) by a breakpoint in 7q31 associated with Tourette syndrome.

Petek E, Windpassinger C, Vincent JB, Cheung J, Boright AP, Scherer SW, Kroisel PM, Wagner K. Petek E, et al. Among authors: wagner k. Am J Hum Genet. 2001 Apr;68(4):848-58. doi: 10.1086/319523. Epub 2001 Mar 9. Am J Hum Genet. 2001. PMID: 11254443 Free PMC article.

9

Candidate region for Gilles de la Tourette syndrome at 7q31.

Kroisel PM, Petek E, Emberger W, Windpassinger C, Wladika W, Wagner K. Kroisel PM, et al. Among authors: wagner k. Am J Med Genet. 2001 Jul 1;101(3):259-61. doi: 10.1002/1096-8628(20010701)101:3<259::aid-ajmg1374>3.0.co;2-#. Am J Med Genet. 2001. PMID: 11424142

10

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: wagner k. Brain. 2002 Jun;125(Pt 6):1320-5. doi: 10.1093/brain/awf127. Brain. 2002. PMID: 12023320

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