Kornberg AJ - Search Results

1

Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia.

Wan J, Steffen J, Yourshaw M, Mamsa H, Andersen E, Rudnik-Schöneborn S, Pope K, Howell KB, McLean CA, Kornberg AJ, Joseph J, Lockhart PJ, Zerres K, Ryan MM, Nelson SF, Koehler CM, Jen JC. Wan J, et al. Among authors: kornberg aj. Brain. 2016 Nov 1;139(11):2877-2890. doi: 10.1093/brain/aww212. Brain. 2016. PMID: 27543974 Free PMC article.

2

Molecular consequences of dominant Bethlem myopathy collagen VI mutations.

Baker NL, Mörgelin M, Pace RA, Peat RA, Adams NE, Gardner RJ, Rowland LP, Miller G, De Jonghe P, Ceulemans B, Hannibal MC, Edwards M, Thompson EM, Jacobson R, Quinlivan RC, Aftimos S, Kornberg AJ, North KN, Bateman JF, Lamandé SR. Baker NL, et al. Among authors: kornberg aj. Ann Neurol. 2007 Oct;62(4):390-405. doi: 10.1002/ana.21213. Ann Neurol. 2007. PMID: 17886299

3

Dietary L-tyrosine supplementation in nemaline myopathy.

Ryan MM, Sy C, Rudge S, Ellaway C, Ketteridge D, Roddick LG, Iannaccone ST, Kornberg AJ, North KN. Ryan MM, et al. Among authors: kornberg aj. J Child Neurol. 2008 Jun;23(6):609-13. doi: 10.1177/0883073807309794. Epub 2007 Dec 13. J Child Neurol. 2008. PMID: 18079309

4

Central nervous system signs in X-linked Charcot-Marie-Tooth disease after hyperventilation.

Srinivasan J, Leventer RJ, Kornberg AJ, Dahl HH, Ryan MM. Srinivasan J, et al. Among authors: kornberg aj. Pediatr Neurol. 2008 Apr;38(4):293-5. doi: 10.1016/j.pediatrneurol.2007.12.003. Pediatr Neurol. 2008. PMID: 18358413

5

Adolescent spinal muscular atrophy with calf hypertrophy and a deletion in the SMN gene.

Yiu EM, Ravat S, Ryan MM, Shield LK, Smith LJ, Kornberg AJ. Yiu EM, et al. Among authors: kornberg aj. Muscle Nerve. 2008 Jul;38(1):930-2. doi: 10.1002/mus.21013. Muscle Nerve. 2008. PMID: 18508340

6

Acute transverse myelitis and acute disseminated encephalomyelitis in childhood: spectrum or separate entities?

Yiu EM, Kornberg AJ, Ryan MM, Coleman LT, Mackay MT. Yiu EM, et al. Among authors: kornberg aj. J Child Neurol. 2009 Mar;24(3):287-96. doi: 10.1177/0883073808323522. J Child Neurol. 2009. PMID: 19258287

7

Cap disease due to mutation of the beta-tropomyosin gene (TPM2).

Clarke NF, Domazetovska A, Waddell L, Kornberg A, McLean C, North KN. Clarke NF, et al. Neuromuscul Disord. 2009 May;19(5):348-51. doi: 10.1016/j.nmd.2009.03.003. Epub 2009 Apr 3. Neuromuscul Disord. 2009. PMID: 19345583

8

Ascorbic acid for Charcot-Marie-Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial.

Burns J, Ouvrier RA, Yiu EM, Joseph PD, Kornberg AJ, Fahey MC, Ryan MM. Burns J, et al. Among authors: kornberg aj. Lancet Neurol. 2009 Jun;8(6):537-44. doi: 10.1016/S1474-4422(09)70108-5. Epub 2009 May 6. Lancet Neurol. 2009. PMID: 19427269 Clinical Trial.

9

Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3.

Waddell LB, Kreissl M, Kornberg A, Kennedy P, McLean C, Labarre-Vila A, Monnier N, North KN, Clarke NF. Waddell LB, et al. Neuromuscul Disord. 2010 Jul;20(7):464-6. doi: 10.1016/j.nmd.2010.05.012. Epub 2010 Jun 15. Neuromuscul Disord. 2010. PMID: 20554445

10

Neurophysiologic findings in children presenting with pes cavus.

Mohamed AR, Rodriguez-Casero MV, Kornberg AJ, Ryan MM. Mohamed AR, et al. Among authors: kornberg aj. J Peripher Nerv Syst. 2010 Sep;15(3):238-40. doi: 10.1111/j.1529-8027.2010.00272.x. J Peripher Nerv Syst. 2010. PMID: 21040146 No abstract available.

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