Feigenbaum A - Search Results

1

A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate.

van der Knaap MS, van der Voorn P, Barkhof F, Van Coster R, Krägeloh-Mann I, Feigenbaum A, Blaser S, Vles JS, Rieckmann P, Pouwels PJ. van der Knaap MS, et al. Among authors: feigenbaum a. Ann Neurol. 2003 Feb;53(2):252-8. doi: 10.1002/ana.10456. Ann Neurol. 2003. PMID: 12557294

2

A neuroimaging approach to inborn errors of metabolism.

Blaser S, Feigenbaum A. Blaser S, et al. Among authors: feigenbaum a. Neuroimaging Clin N Am. 2004 May;14(2):307-29, ix. doi: 10.1016/j.nic.2004.03.013. Neuroimaging Clin N Am. 2004. PMID: 15182821 Review.

3

Late-onset cobalamin-C disorder: a challenging diagnosis.

Ben-Omran TI, Wong H, Blaser S, Feigenbaum A. Ben-Omran TI, et al. Among authors: feigenbaum a. Am J Med Genet A. 2007 May 1;143A(9):979-84. doi: 10.1002/ajmg.a.31671. Am J Med Genet A. 2007. PMID: 17431913

4

Rolandic mitochondrial encephalomyelopathy and MT-ND3 mutations.

Werner KG, Morel CF, Kirton A, Benseler SM, Shoffner JM, Addis JB, Robinson BH, Burrowes DM, Blaser SI, Epstein LG, Feigenbaum AS. Werner KG, et al. Among authors: feigenbaum as. Pediatr Neurol. 2009 Jul;41(1):27-33. doi: 10.1016/j.pediatrneurol.2009.02.010. Pediatr Neurol. 2009. PMID: 19520270

5

A homozygous deletion of 8q24.3 including the NIBP gene associated with severe developmental delay, dysgenesis of the corpus callosum, and dysmorphic facial features.

Koifman A, Feigenbaum A, Bi W, Shaffer LG, Rosenfeld J, Blaser S, Chitayat D. Koifman A, et al. Among authors: feigenbaum a. Am J Med Genet A. 2010 May;152A(5):1268-72. doi: 10.1002/ajmg.a.33319. Am J Med Genet A. 2010. PMID: 20425834

6

IDH2 mutations in patients with D-2-hydroxyglutaric aciduria.

Kranendijk M, Struys EA, van Schaftingen E, Gibson KM, Kanhai WA, van der Knaap MS, Amiel J, Buist NR, Das AM, de Klerk JB, Feigenbaum AS, Grange DK, Hofstede FC, Holme E, Kirk EP, Korman SH, Morava E, Morris A, Smeitink J, Sukhai RN, Vallance H, Jakobs C, Salomons GS. Kranendijk M, et al. Among authors: feigenbaum as. Science. 2010 Oct 15;330(6002):336. doi: 10.1126/science.1192632. Epub 2010 Sep 16. Science. 2010. PMID: 20847235

7

Arginase I deficiency: severe infantile presentation with hyperammonemia: more common than reported?

Jain-Ghai S, Nagamani SC, Blaser S, Siriwardena K, Feigenbaum A. Jain-Ghai S, et al. Among authors: feigenbaum a. Mol Genet Metab. 2011 Sep-Oct;104(1-2):107-11. doi: 10.1016/j.ymgme.2011.06.025. Epub 2011 Jul 13. Mol Genet Metab. 2011. PMID: 21802329 Free PMC article.

8

Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy.

Kevelam SH, Bugiani M, Salomons GS, Feigenbaum A, Blaser S, Prasad C, Häberle J, Baric I, Bakker IM, Postma NL, Kanhai WA, Wolf NI, Abbink TE, Waisfisz Q, Heutink P, van der Knaap MS. Kevelam SH, et al. Among authors: feigenbaum a. Brain. 2013 May;136(Pt 5):1534-43. doi: 10.1093/brain/awt054. Epub 2013 Mar 12. Brain. 2013. PMID: 23482991 Free article.

9

Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome.

Cameron JM, MacKay N, Feigenbaum A, Tarnopolsky M, Blaser S, Robinson BH, Schulze A. Cameron JM, et al. Among authors: feigenbaum a. Eur J Paediatr Neurol. 2015 Sep;19(5):525-32. doi: 10.1016/j.ejpn.2015.05.002. Epub 2015 May 14. Eur J Paediatr Neurol. 2015. PMID: 26008862

10

Validation of the finding of hypertrophy of the clava in infantile neuroaxonal dystrophy/PLA2G6 by biometric analysis.

Al-Maawali A, Yoon G, Feigenbaum AS, Halliday WC, Clarke JT, Branson HM, Banwell BL, Chitayat D, Blaser SI. Al-Maawali A, et al. Among authors: feigenbaum as. Neuroradiology. 2016 Oct;58(10):1035-1042. doi: 10.1007/s00234-016-1726-6. Epub 2016 Aug 11. Neuroradiology. 2016. PMID: 27516098

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