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X-linked infantile spinal muscular atrophy: clinical definition and molecular mapping.
Dressman D, Ahearn ME, Yariz KO, Basterrecha H, Martínez F, Palau F, Barmada MM, Clark RD, Meindl A, Wirth B, Hoffman EP, Baumbach-Reardon L. Dressman D, et al. Among authors: baumbach reardon l. Genet Med. 2007 Jan;9(1):52-60. doi: 10.1097/gim.0b013e31802d8353. Genet Med. 2007. PMID: 17224690 Free article.
Novel pathogenic variants and genes for myopathies identified by whole exome sequencing.
Hunter JM, Ahearn ME, Balak CD, Liang WS, Kurdoglu A, Corneveaux JJ, Russell M, Huentelman MJ, Craig DW, Carpten J, Coons SW, DeMello DE, Hall JG, Bernes SM, Baumbach-Reardon L. Hunter JM, et al. Among authors: baumbach reardon l. Mol Genet Genomic Med. 2015 Jul;3(4):283-301. doi: 10.1002/mgg3.142. Epub 2015 Apr 8. Mol Genet Genomic Med. 2015. PMID: 26247046 Free PMC article.
Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12.
Montenegro G, Rebelo AP, Connell J, Allison R, Babalini C, D'Aloia M, Montieri P, Schüle R, Ishiura H, Price J, Strickland A, Gonzalez MA, Baumbach-Reardon L, Deconinck T, Huang J, Bernardi G, Vance JM, Rogers MT, Tsuji S, De Jonghe P, Pericak-Vance MA, Schöls L, Orlacchio A, Reid E, Züchner S. Montenegro G, et al. Among authors: baumbach reardon l. J Clin Invest. 2012 Feb;122(2):538-44. doi: 10.1172/JCI60560. Epub 2012 Jan 9. J Clin Invest. 2012. PMID: 22232211 Free PMC article.
Spinal Muscular Atrophy, X-Linked Infantile.
Baumbach-Reardon L, Hunter JM, Ahearn ME, Pfautsch M. Baumbach-Reardon L, et al. 2008 Oct 30 [updated 2024 May 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2008 Oct 30 [updated 2024 May 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301739 Free Books & Documents. Review.