Auer-Grumbach M - Search Results

1

Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I.

Rotthier A, Auer-Grumbach M, Janssens K, Baets J, Penno A, Almeida-Souza L, Van Hoof K, Jacobs A, De Vriendt E, Schlotter-Weigel B, Löscher W, Vondráček P, Seeman P, De Jonghe P, Van Dijck P, Jordanova A, Hornemann T, Timmerman V. Rotthier A, et al. Am J Hum Genet. 2010 Oct 8;87(4):513-22. doi: 10.1016/j.ajhg.2010.09.010. Am J Hum Genet. 2010. PMID: 20920666 Free PMC article.

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

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

5

Hereditary sensory neuropathy type I: haplotype analysis shows founders in southern England and Europe.

Nicholson GA, Dawkins JL, Blair IP, Auer-Grumbach M, Brahmbhatt SB, Hulme DJ. Nicholson GA, et al. Am J Hum Genet. 2001 Sep;69(3):655-9. doi: 10.1086/323252. Epub 2001 Jul 27. Am J Hum Genet. 2001. PMID: 11479835 Free PMC article.

6

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

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

8

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.

9

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.

10

Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) gene.

Lee MJ, Stephenson DA, Groves MJ, Sweeney MG, Davis MB, An SF, Houlden H, Salih MA, Timmerman V, de Jonghe P, Auer-Grumbach M, Di Maria E, Scaravilli F, Wood NW, Reilly MM. Lee MJ, et al. Hum Mol Genet. 2003 Aug 1;12(15):1917-25. doi: 10.1093/hmg/ddg198. Hum Mol Genet. 2003. PMID: 12874111

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