Auer-Grumbach M - Search Results

1

Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia.

Zimoń M, Baets J, Almeida-Souza L, De Vriendt E, Nikodinovic J, Parman Y, Battaloğlu E, Matur Z, Guergueltcheva V, Tournev I, Auer-Grumbach M, De Rijk P, Petersen BS, Müller T, Fransen E, Van Damme P, Löscher WN, Barišić N, Mitrovic Z, Previtali SC, Topaloğlu H, Bernert G, Beleza-Meireles A, Todorovic S, Savic-Pavicevic D, Ishpekova B, Lechner S, Peeters K, Ooms T, Hahn AF, Züchner S, Timmerman V, Van Dijck P, Rasic VM, Janecke AR, De Jonghe P, Jordanova A. Zimoń M, et al. Nat Genet. 2012 Oct;44(10):1080-3. doi: 10.1038/ng.2406. Epub 2012 Sep 9. Nat Genet. 2012. PMID: 22961002

2

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

3

[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.

4

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

5

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

6

Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I.

Dawkins JL, Hulme DJ, Brahmbhatt SB, Auer-Grumbach M, Nicholson GA. Dawkins JL, et al. Nat Genet. 2001 Mar;27(3):309-12. doi: 10.1038/85879. Nat Genet. 2001. PMID: 11242114

7

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

8

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. Neuromuscul Disord. 2002 Oct;12(7-8):656-8. doi: 10.1016/s0960-8966(02)00015-9. Neuromuscul Disord. 2002. PMID: 12207934

9

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.

10

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. Arch Neurol. 2003 Mar;60(3):329-34. doi: 10.1001/archneur.60.3.329. Arch Neurol. 2003. PMID: 12633143 Review.

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