Auer-Grumbach M - Search Results

1

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

2

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

3

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.

4

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.

5

DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4).

Chen YZ, Bennett CL, Huynh HM, Blair IP, Puls I, Irobi J, Dierick I, Abel A, Kennerson ML, Rabin BA, Nicholson GA, Auer-Grumbach M, Wagner K, De Jonghe P, Griffin JW, Fischbeck KH, Timmerman V, Cornblath DR, Chance PF. Chen YZ, et al. Am J Hum Genet. 2004 Jun;74(6):1128-35. doi: 10.1086/421054. Epub 2004 Apr 21. Am J Hum Genet. 2004. PMID: 15106121 Free PMC article.

6

MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs.

Albulym OM, Kennerson ML, Harms MB, Drew AP, Siddell AH, Auer-Grumbach M, Pestronk A, Connolly A, Baloh RH, Zuchner S, Reddel SW, Nicholson GA. Albulym OM, et al. Ann Neurol. 2016 Mar;79(3):419-27. doi: 10.1002/ana.24575. Epub 2016 Jan 13. Ann Neurol. 2016. PMID: 26659848 Free PMC article.

7

Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family.

Tey S, Shahrizaila N, Drew AP, Samulong S, Goh KJ, Battaloglu E, Atkinson D, Parman Y, Jordanova A, Chung KW, Choi BO, Li YC, Auer-Grumbach M, Nicholson GA, Kennerson ML, Ahmad-Annuar A. Tey S, et al. Neurogenetics. 2019 Aug;20(3):117-127. doi: 10.1007/s10048-019-00576-3. Epub 2019 Apr 22. Neurogenetics. 2019. PMID: 31011849

8

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

9

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.

10

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. Nat Genet. 2004 Mar;36(3):271-6. doi: 10.1038/ng1313. Epub 2004 Feb 22. Nat Genet. 2004. PMID: 14981520

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