Kornblum C - Search Results

1

Towards Central Nervous System Involvement in Adults with Hereditary Myopathies.

Reimann J, Kornblum C. Reimann J, et al. Among authors: kornblum c. J Neuromuscul Dis. 2020;7(4):367-393. doi: 10.3233/JND-200507. J Neuromuscul Dis. 2020. PMID: 32773394 Free PMC article. Review.

2

Pattern of skeletal muscle involvement in primary dysferlinopathies: a whole-body 3.0-T magnetic resonance imaging study.

Kesper K, Kornblum C, Reimann J, Lutterbey G, Schröder R, Wattjes MP. Kesper K, et al. Among authors: kornblum c. Acta Neurol Scand. 2009 Aug;120(2):111-8. doi: 10.1111/j.1600-0404.2008.01129.x. Epub 2008 Dec 22. Acta Neurol Scand. 2009. PMID: 19154541

3

Endplate destruction due to maternal antibodies in arthrogryposis multiplex congenita.

Reimann J, Jacobson L, Vincent A, Kornblum C. Reimann J, et al. Among authors: kornblum c. Neurology. 2009 Nov 24;73(21):1806-8. doi: 10.1212/WNL.0b013e3181c34a65. Neurology. 2009. PMID: 19933984 No abstract available.

4

Whole-body high-field MRI shows no skeletal muscle degeneration in young patients with recessive myotonia congenita.

Kornblum C, Lutterbey GG, Czermin B, Reimann J, von Kleist-Retzow JC, Jurkat-Rott K, Wattjes MP. Kornblum C, et al. Acta Neurol Scand. 2010 Feb;121(2):131-5. doi: 10.1111/j.1600-0404.2009.01228.x. Epub 2009 Dec 28. Acta Neurol Scand. 2010. PMID: 20047568

5

Myopathy and neuropathy with pipestem capillaries and vascular activated complement deposition.

Reimann J, Kornblum C, Tolksdorf K, Brück W, van Landeghem FK. Reimann J, et al. Among authors: kornblum c. Neurology. 2011 Jul 26;77(4):401-3. doi: 10.1212/WNL.0b013e3182267bb1. Epub 2011 Jul 13. Neurology. 2011. PMID: 21753180 No abstract available.

6

ZASPopathy with childhood-onset distal myopathy.

Strach K, Reimann J, Thomas D, Naehle CP, Kress W, Kornblum C. Strach K, et al. Among authors: kornblum c. J Neurol. 2012 Jul;259(7):1494-6. doi: 10.1007/s00415-012-6543-1. Epub 2012 May 23. J Neurol. 2012. PMID: 22619057

7

Diagnostic challenge and therapeutic dilemma in necrotizing myopathy.

Claeys KG, Gorodinskaya O, Handt S, Reimann J, Kress W, Kornblum C, Kuhl C, Schulz JB, Weis J. Claeys KG, et al. Among authors: kornblum c. Neurology. 2013 Sep 3;81(10):932-5. doi: 10.1212/WNL.0b013e3182a35285. Epub 2013 Aug 6. Neurology. 2013. PMID: 23921885 No abstract available.

8

Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy.

Hallmann K, Kudin AP, Zsurka G, Kornblum C, Reimann J, Stüve B, Waltz S, Hattingen E, Thiele H, Nürnberg P, Rüb C, Voos W, Kopatz J, Neumann H, Kunz WS. Hallmann K, et al. Among authors: kornblum c. Brain. 2016 Feb;139(Pt 2):338-45. doi: 10.1093/brain/awv357. Epub 2015 Dec 17. Brain. 2016. PMID: 26685157

9

Camptocormia and shuffling gait due to a novel MT-TV mutation: Diagnostic pitfalls.

Reimann J, Lehmann D, Hardy SA, Falkous G, Knowles CV, Jones RL, Kunz WS, Taylor RW, Kornblum C. Reimann J, et al. Among authors: kornblum c. Neurol Genet. 2017 Apr 5;3(3):e147. doi: 10.1212/NXG.0000000000000147. eCollection 2017 Jun. Neurol Genet. 2017. PMID: 28396884 Free PMC article. No abstract available.

10

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations.

Lee Y, Jonson PH, Sarparanta J, Palmio J, Sarkar M, Vihola A, Evilä A, Suominen T, Penttilä S, Savarese M, Johari M, Minot MC, Hilton-Jones D, Maddison P, Chinnery P, Reimann J, Kornblum C, Kraya T, Zierz S, Sue C, Goebel H, Azfer A, Ralston SH, Hackman P, Bucelli RC, Taylor JP, Weihl CC, Udd B. Lee Y, et al. Among authors: kornblum c. J Clin Invest. 2018 Mar 1;128(3):1164-1177. doi: 10.1172/JCI97103. Epub 2018 Feb 19. J Clin Invest. 2018. PMID: 29457785 Free PMC article.

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