Auer-Grumbach M - Search Results

1

Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy.

Verhoeven K, De Jonghe P, Coen K, Verpoorten N, Auer-Grumbach M, Kwon JM, FitzPatrick D, Schmedding E, De Vriendt E, Jacobs A, Van Gerwen V, Wagner K, Hartung HP, Timmerman V. Verhoeven K, et al. Am J Hum Genet. 2003 Mar;72(3):722-7. doi: 10.1086/367847. Epub 2003 Jan 21. Am J Hum Genet. 2003. PMID: 12545426 Free PMC article.

2

[Charcot-Marie-Tooth syndrome. Clinico-genetic correlation in an affected family].

Auer-Grumbach M, Wagner K, Strasser-Fuchs S, Millner M, Fazekas F. Auer-Grumbach M, et al. Nervenarzt. 1996 Feb;67(2):155-9. Nervenarzt. 1996. PMID: 8851297 German.

3

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. J Neurol Sci. 1998 Jan 21;154(1):72-5. doi: 10.1016/s0022-510x(97)00218-9. J Neurol Sci. 1998. PMID: 9543325

4

Proximal Charcot-Marie-Tooth syndrome with duplication on chromosome 17p11.2.

Auer-Grumbach M, Wagner K, Payer F, Hartung HP. Auer-Grumbach M, et al. Ann N Y Acad Sci. 1999 Sep 14;883:469-71. Ann N Y Acad Sci. 1999. PMID: 10586276 No abstract available.

5

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

6

[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. Nervenarzt. 1999 Dec;70(12):1052-61. doi: 10.1007/s001150050539. Nervenarzt. 1999. PMID: 10637810 Review. German.

7

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. Brain. 2000 Aug;123 ( Pt 8):1612-23. doi: 10.1093/brain/123.8.1612. Brain. 2000. PMID: 10908191

8

Clinical predominance of proximal upper limb weakness in CMT1A syndrome.

Auer-Grumbach M, Wagner K, Strasser-Fuchs S, Löscher WN, Fazekas F, Millner M, Hartung HP. Auer-Grumbach M, et al. Muscle Nerve. 2000 Aug;23(8):1243-9. doi: 10.1002/1097-4598(200008)23:8<1243::aid-mus13>3.0.co;2-z. Muscle Nerve. 2000. PMID: 10918262

9

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

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

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