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Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophies.
Neurology. 2019 Nov 19;93(21):e1932-e1943. doi: 10.1212/WNL.0000000000008517. Epub 2019 Oct 25.
Neurology. 2019.
PMID: 31653707
Free PMC article.
Giant axonal neuropathy: cross-sectional analysis of a large natural history cohort.
Bharucha-Goebel DX, Norato G, Saade D, Paredes E, Biancavilla V, Donkervoort S, Kaur R, Lehky T, Fink M, Armao D, Gray SJ, Waite M, Debs S, Averion G, Hu Y, Zein WM, Foley AR, Jain M, Bönnemann CG.
Bharucha-Goebel DX, et al.
Brain. 2021 Nov 29;144(10):3239-3250. doi: 10.1093/brain/awab179.
Brain. 2021.
PMID: 34114613
Free PMC article.
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Anesthetic Management of Children and Adolescents With Giant Axonal Neuropathy: A Large Case Series.
Yousef M, Bharucha-Goebel D, Saade D, Averion G, Bönnemann CG, Quezado ZMN.
Yousef M, et al.
A A Pract. 2021 Oct 25;15(10):e01539. doi: 10.1213/XAA.0000000000001539.
A A Pract. 2021.
PMID: 34695041
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Ethical challenges for a new generation of early-phase pediatric gene therapy trials.
Iyer AA, Saade D, Bharucha-Goebel D, Foley AR, Averion G', Paredes E, Gray S, Bönnemann CG, Grady C, Hendriks S, Rid A.
Iyer AA, et al.
Genet Med. 2021 Nov;23(11):2057-2066. doi: 10.1038/s41436-021-01245-3. Epub 2021 Jul 7.
Genet Med. 2021.
PMID: 34234300
Free article.
Review.
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