Stockler S - Search Results

1

Clinical, Biochemical, and Molecular Characterization of Novel Mutations in ABCA1 in Families with Tangier Disease.

Brunham LR, Kang MH, Van Karnebeek C, Sadananda SN, Collins JA, Zhang LH, Sayson B, Miao F, Stockler S, Frohlich J, Cassiman D, Rabkin SW, Hayden MR. Brunham LR, et al. Among authors: stockler s. JIMD Rep. 2015;18:51-62. doi: 10.1007/8904_2014_348. Epub 2014 Oct 12. JIMD Rep. 2015. PMID: 25308558 Free PMC article.

2

Deep brain stimulation and dantrolene for secondary dystonia in x-linked adrenoleukodystrophy.

van Karnebeek C, Horvath G, Murphy T, Purtzki J, Bowden K, Sirrs S, Honey CR, Stockler S. van Karnebeek C, et al. Among authors: stockler s. JIMD Rep. 2015;15:113-6. doi: 10.1007/8904_2014_305. Epub 2014 Apr 10. JIMD Rep. 2015. PMID: 24718842 Free PMC article.

3

Treatable inborn errors of metabolism causing intellectual disability: a systematic literature review.

van Karnebeek CD, Stockler S. van Karnebeek CD, et al. Among authors: stockler s. Mol Genet Metab. 2012 Mar;105(3):368-81. doi: 10.1016/j.ymgme.2011.11.191. Epub 2011 Nov 30. Mol Genet Metab. 2012. PMID: 22212131 Free article. Review.

4

Overexpression of recombinant human antiquitin in E. coli: partial enzyme activity in selected ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy.

Coulter-Mackie MB, Tiebout S, van Karnebeek C, Stockler S. Coulter-Mackie MB, et al. Among authors: stockler s. Mol Genet Metab. 2014 Apr;111(4):462-6. doi: 10.1016/j.ymgme.2014.02.010. Epub 2014 Feb 24. Mol Genet Metab. 2014. PMID: 24613284

5

Metabolic Clinic Atlas: Organization of Care for Children with Inherited Metabolic Disease in Canada.

Lamoureux MF, Tingley K, Kronick JB, Potter BK, Chan AK, Coyle D, Dodds L, Dyack S, Feigenbaum A, Geraghty M, Gillis J, Rockman-Greenberg C, Khan A, Little J, MacKenzie J, Maranda B, Mhanni A, Mitchell JJ, Mitchell G, Laberge AM, Potter M, Prasad C, Siriwardena K, Speechley KN, Stockler S, Trakadis Y, Turner L, Van Karnebeek C, Wilson K, Chakraborty P; Canadian Inherited Metabolic Diseases Research Network. Lamoureux MF, et al. Among authors: stockler s. JIMD Rep. 2015;21:15-22. doi: 10.1007/8904_2014_347. Epub 2015 Feb 26. JIMD Rep. 2015. PMID: 25716610 Free PMC article.

6

Treatable inborn errors of metabolism causing neurological symptoms in adults.

Sirrs SM, Lehman A, Stockler S, van Karnebeek CD. Sirrs SM, et al. Among authors: stockler s. Mol Genet Metab. 2013 Dec;110(4):431-8. doi: 10.1016/j.ymgme.2013.10.002. Mol Genet Metab. 2013. PMID: 24427801 Review.

7

The metabolic evaluation of the child with an intellectual developmental disorder: diagnostic algorithm for identification of treatable causes and new digital resource.

van Karnebeek CD, Shevell M, Zschocke J, Moeschler JB, Stockler S. van Karnebeek CD, et al. Among authors: stockler s. Mol Genet Metab. 2014 Apr;111(4):428-38. doi: 10.1016/j.ymgme.2014.01.011. Epub 2014 Jan 24. Mol Genet Metab. 2014. PMID: 24518794 Free article. Review.

8

The treatable intellectual disability APP www.treatable-id.org: a digital tool to enhance diagnosis & care for rare diseases.

van Karnebeek CD, Houben RF, Lafek M, Giannasi W, Stockler S. van Karnebeek CD, et al. Among authors: stockler s. Orphanet J Rare Dis. 2012 Jul 23;7:47. doi: 10.1186/1750-1172-7-47. Orphanet J Rare Dis. 2012. PMID: 22824307 Free PMC article.

9

Health economic evaluation of plasma oxysterol screening in the diagnosis of Niemann-Pick Type C disease among intellectually disabled using discrete event simulation.

van Karnebeek CD, Mohammadi T, Tsao N, Sinclair G, Sirrs S, Stockler S, Marra C. van Karnebeek CD, et al. Among authors: stockler s. Mol Genet Metab. 2015 Feb;114(2):226-32. doi: 10.1016/j.ymgme.2014.07.004. Epub 2014 Jul 15. Mol Genet Metab. 2015. PMID: 25095726

10

De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy.

Riedhammer KM, Stockler S, Ploski R, Wenzel M, Adis-Dutschmann B, Ahting U, Alhaddad B, Blaschek A, Haack TB, Kopajtich R, Lee J, Murcia Pienkowski V, Pollak A, Szymanska K, Tarailo-Graovac M, van der Lee R, van Karnebeek CD, Meitinger T, Krägeloh-Mann I, Vill K. Riedhammer KM, et al. Among authors: stockler s. Brain. 2021 Mar 3;144(2):411-419. doi: 10.1093/brain/awaa410. Brain. 2021. PMID: 33313762 Free PMC article.

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