Salomons GS - Search Results

1

Novel mutations in pyridoxine-dependent epilepsy.

Millet A, Salomons GS, Cneude F, Corne C, Debillon T, Jakobs C, Struys E, Hamelin S. Millet A, et al. Among authors: salomons gs. Eur J Paediatr Neurol. 2011 Jan;15(1):74-7. doi: 10.1016/j.ejpn.2010.03.011. Epub 2010 Apr 28. Eur J Paediatr Neurol. 2011. PMID: 20427214

2

Two novel ALDH7A1 (antiquitin) splicing mutations associated with pyridoxine-dependent seizures.

Striano P, Battaglia S, Giordano L, Capovilla G, Beccaria F, Struys EA, Salomons GS, Jakobs C. Striano P, et al. Among authors: salomons gs. Epilepsia. 2009 Apr;50(4):933-6. doi: 10.1111/j.1528-1167.2008.01741.x. Epilepsia. 2009. PMID: 18717709 Free article.

3

Pyridoxine-dependent seizures caused by alpha amino adipic semialdehyde dehydrogenase deficiency: the first polish case with confirmed biochemical and molecular pathology.

Kaczorowska M, Kmiec T, Jakobs C, Kacinski M, Kroczka S, Salomons GS, Struys EA, Jozwiak S. Kaczorowska M, et al. Among authors: salomons gs. J Child Neurol. 2008 Dec;23(12):1455-9. doi: 10.1177/0883073808318543. Epub 2008 Oct 14. J Child Neurol. 2008. PMID: 18854520

4

Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy.

Gallagher RC, Van Hove JL, Scharer G, Hyland K, Plecko B, Waters PJ, Mercimek-Mahmutoglu S, Stockler-Ipsiroglu S, Salomons GS, Rosenberg EH, Struys EA, Jakobs C. Gallagher RC, et al. Among authors: salomons gs. Ann Neurol. 2009 May;65(5):550-6. doi: 10.1002/ana.21568. Ann Neurol. 2009. PMID: 19142996

5

Atypical pyridoxine-dependent epilepsy due to a pseudoexon in ALDH7A1.

Milh M, Pop A, Kanhai W, Villeneuve N, Cano A, Struys EA, Salomons GS, Chabrol B, Jakobs C. Milh M, et al. Among authors: salomons gs. Mol Genet Metab. 2012 Apr;105(4):684-6. doi: 10.1016/j.ymgme.2012.01.011. Epub 2012 Jan 20. Mol Genet Metab. 2012. PMID: 22305855

6

Pyridoxine-dependent epilepsy due to antiquitin deficiency: achieving a favourable outcome.

Oliveira R, Pereira C, Rodrigues F, Alfaite C, Garcia P, Robalo C, Fineza I, Gonçalves O, Struys E, Salomons G, Jakobs C, Diogo L. Oliveira R, et al. Epileptic Disord. 2013 Dec;15(4):400-6. doi: 10.1684/epd.2013.0610. Epileptic Disord. 2013. PMID: 24184718 Free article.

7

An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1).

Salomons GS, Bok LA, Struys EA, Pope LL, Darmin PS, Mills PB, Clayton PT, Willemsen MA, Jakobs C. Salomons GS, et al. Ann Neurol. 2007 Oct;62(4):414-8. doi: 10.1002/ana.21206. Ann Neurol. 2007. PMID: 17721876

8

Pyridoxine-dependent epilepsy with elevated urinary α-amino adipic semialdehyde in molybdenum cofactor deficiency.

Struys EA, Nota B, Bakkali A, Al Shahwan S, Salomons GS, Tabarki B. Struys EA, et al. Among authors: salomons gs. Pediatrics. 2012 Dec;130(6):e1716-9. doi: 10.1542/peds.2012-1094. Epub 2012 Nov 12. Pediatrics. 2012. PMID: 23147983

9

Mutations in phenotypically mild D-2-hydroxyglutaric aciduria.

Struys EA, Korman SH, Salomons GS, Darmin PS, Achouri Y, van Schaftingen E, Verhoeven NM, Jakobs C. Struys EA, et al. Among authors: salomons gs. Ann Neurol. 2005 Oct;58(4):626-30. doi: 10.1002/ana.20559. Ann Neurol. 2005. PMID: 16037974

10

Glutaric aciduria type 1: clinical, biochemical and molecular findings in patients from Israel.

Korman SH, Jakobs C, Darmin PS, Gutman A, van der Knaap MS, Ben-Neriah Z, Dweikat I, Wexler ID, Salomons GS. Korman SH, et al. Among authors: salomons gs. Eur J Paediatr Neurol. 2007 Mar;11(2):81-9. doi: 10.1016/j.ejpn.2006.11.006. Epub 2006 Dec 26. Eur J Paediatr Neurol. 2007. PMID: 17188916

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