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The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.
medRxiv [Preprint]. 2024 Mar 29:2024.03.29.24304673. doi: 10.1101/2024.03.29.24304673.
medRxiv. 2024.
PMID: 38585825
Free PMC article.
Preprint.
Insights on chronic-relapsing opsoclonus-myoclonus from a pilot study of mycophenolate mofetil.
Pranzatelli MR, Tate ED, Travelstead AL, Baumgardner CA, Gowda NV, Halthore SN, Kerstan P, Kossak BD, Mitchell WG, Taub JW.
Pranzatelli MR, et al. Among authors: kossak bd.
J Child Neurol. 2009 Mar;24(3):316-22. doi: 10.1177/0883073808324217.
J Child Neurol. 2009.
PMID: 19258290
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Impaired fatty acid oxidation in children on valproic acid and the effect of L-carnitine.
Kossak BD, Schmidt-Sommerfeld E, Schoeller DA, Rinaldo P, Penn D, Tonsgard JH.
Kossak BD, et al.
Neurology. 1993 Nov;43(11):2362-8. doi: 10.1212/wnl.43.11.2362.
Neurology. 1993.
PMID: 8232957
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