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Precision therapy for a new disorder of AMPA receptor recycling due to mutations in ATAD1.
Ahrens-Nicklas RC, Umanah GK, Sondheimer N, Deardorff MA, Wilkens AB, Conlin LK, Santani AB, Nesbitt A, Juulsola J, Ma E, Dawson TM, Dawson VL, Marsh ED. Ahrens-Nicklas RC, et al. Among authors: sondheimer n. Neurol Genet. 2017 Feb 1;3(1):e130. doi: 10.1212/NXG.0000000000000130. eCollection 2017 Feb. Neurol Genet. 2017. PMID: 28180185 Free PMC article.
Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: a role for detailed molecular analysis in complex presentations of classical diseases.
Deardorff MA, Gaddipati H, Kaplan P, Sanchez-Lara PA, Sondheimer N, Spinner NB, Hakonarson H, Ficicioglu C, Ganesh J, Markello T, Loechelt B, Zand DJ, Yudkoff M, Lichter-Konecki U. Deardorff MA, et al. Among authors: sondheimer n. Mol Genet Metab. 2008 Aug;94(4):498-502. doi: 10.1016/j.ymgme.2008.04.011. Epub 2008 Jun 3. Mol Genet Metab. 2008. PMID: 18524659 Free PMC article.
Neutral mitochondrial heteroplasmy and the influence of aging.
Sondheimer N, Glatz CE, Tirone JE, Deardorff MA, Krieger AM, Hakonarson H. Sondheimer N, et al. Hum Mol Genet. 2011 Apr 15;20(8):1653-9. doi: 10.1093/hmg/ddr043. Epub 2011 Feb 4. Hum Mol Genet. 2011. PMID: 21296868 Free PMC article.
Improving surveillance for hyperammonemia in the newborn.
Vergano SA, Crossette JM, Cusick FC, Desai BR, Deardorff MA, Sondheimer N. Vergano SA, et al. Among authors: sondheimer n. Mol Genet Metab. 2013 Sep-Oct;110(1-2):102-5. doi: 10.1016/j.ymgme.2013.05.005. Epub 2013 May 18. Mol Genet Metab. 2013. PMID: 23746553 Free PMC article.
EGFR mutations cause a lethal syndrome of epithelial dysfunction with progeroid features.
Ganetzky R, Finn E, Bagchi A, Zollo O, Conlin L, Deardorff M, Harr M, Simpson MA, McGrath JA, Zackai E, Lemmon MA, Sondheimer N. Ganetzky R, et al. Among authors: sondheimer n. Mol Genet Genomic Med. 2015 Sep;3(5):452-8. doi: 10.1002/mgg3.156. Epub 2015 Jun 4. Mol Genet Genomic Med. 2015. PMID: 26436111 Free PMC article.
Pathologic Variants of the Mitochondrial Phosphate Carrier SLC25A3: Two New Patients and Expansion of the Cardiomyopathy/Skeletal Myopathy Phenotype With and Without Lactic Acidosis.
Bhoj EJ, Li M, Ahrens-Nicklas R, Pyle LC, Wang J, Zhang VW, Clarke C, Wong LJ, Sondheimer N, Ficicioglu C, Yudkoff M. Bhoj EJ, et al. Among authors: sondheimer n. JIMD Rep. 2015;19:59-66. doi: 10.1007/8904_2014_364. Epub 2015 Feb 15. JIMD Rep. 2015. PMID: 25681081 Free PMC article.
Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy.
Assoum M, Philippe C, Isidor B, Perrin L, Makrythanasis P, Sondheimer N, Paris C, Douglas J, Lesca G, Antonarakis S, Hamamy H, Jouan T, Duffourd Y, Auvin S, Saunier A, Begtrup A, Nowak C, Chatron N, Ville D, Mireskandari K, Milani P, Jonveaux P, Lemeur G, Milh M, Amamoto M, Kato M, Nakashima M, Miyake N, Matsumoto N, Masri A, Thauvin-Robinet C, Rivière JB, Faivre L, Thevenon J. Assoum M, et al. Among authors: sondheimer n. Am J Hum Genet. 2016 Dec 1;99(6):1368-1376. doi: 10.1016/j.ajhg.2016.10.009. Epub 2016 Nov 23. Am J Hum Genet. 2016. PMID: 27889060 Free PMC article.
85 results