Spendiff S - Search Results

1

Salbutamol modifies the neuromuscular junction in a mouse model of ColQ myasthenic syndrome.

McMacken GM, Spendiff S, Whittaker RG, O'Connor E, Howarth RM, Boczonadi V, Horvath R, Slater CR, Lochmüller H. McMacken GM, et al. Among authors: spendiff s. Hum Mol Genet. 2019 Jul 15;28(14):2339-2351. doi: 10.1093/hmg/ddz059. Hum Mol Genet. 2019. PMID: 31220253 Free PMC article.

2

Mitochondrial DNA deletions in muscle satellite cells: implications for therapies.

Spendiff S, Reza M, Murphy JL, Gorman G, Blakely EL, Taylor RW, Horvath R, Campbell G, Newman J, Lochmüller H, Turnbull DM. Spendiff S, et al. Hum Mol Genet. 2013 Dec 1;22(23):4739-47. doi: 10.1093/hmg/ddt327. Epub 2013 Jul 11. Hum Mol Genet. 2013. PMID: 23847047 Free PMC article.

3

The Increasing Genetic and Phenotypical Diversity of Congenital Myasthenic Syndromes.

McMacken G, Abicht A, Evangelista T, Spendiff S, Lochmüller H. McMacken G, et al. Among authors: spendiff s. Neuropediatrics. 2017 Aug;48(4):294-308. doi: 10.1055/s-0037-1602832. Epub 2017 May 15. Neuropediatrics. 2017. PMID: 28505670 Review. No abstract available.

4

Clinical and research strategies for limb-girdle congenital myasthenic syndromes.

O'Connor E, Töpf A, Zahedi RP, Spendiff S, Cox D, Roos A, Lochmüller H. O'Connor E, et al. Among authors: spendiff s. Ann N Y Acad Sci. 2018 Jan;1412(1):102-112. doi: 10.1111/nyas.13520. Epub 2018 Jan 5. Ann N Y Acad Sci. 2018. PMID: 29315608 Review.

5

GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice.

Issop Y, Hathazi D, Khan MM, Rudolf R, Weis J, Spendiff S, Slater CR, Roos A, Lochmüller H. Issop Y, et al. Among authors: spendiff s. Hum Mol Genet. 2018 Sep 15;27(18):3218-3232. doi: 10.1093/hmg/ddy225. Hum Mol Genet. 2018. PMID: 29905857 Free PMC article.

6

SIL1 deficiency causes degenerative changes of peripheral nerves and neuromuscular junctions in fish, mice and human.

Phan V, Cox D, Cipriani S, Spendiff S, Buchkremer S, O'Connor E, Horvath R, Goebel HH, Hathazi D, Lochmüller H, Straka T, Rudolf R, Weis J, Roos A. Phan V, et al. Among authors: spendiff s. Neurobiol Dis. 2019 Apr;124:218-229. doi: 10.1016/j.nbd.2018.11.019. Epub 2018 Nov 20. Neurobiol Dis. 2019. PMID: 30468864

7

Neuromuscular Junction Changes in a Mouse Model of Charcot-Marie-Tooth Disease Type 4C.

Cipriani S, Phan V, Médard JJ, Horvath R, Lochmüller H, Chrast R, Roos A, Spendiff S. Cipriani S, et al. Among authors: spendiff s. Int J Mol Sci. 2018 Dec 17;19(12):4072. doi: 10.3390/ijms19124072. Int J Mol Sci. 2018. PMID: 30562927 Free PMC article.

8

Modulation of Agrin and RhoA Pathways Ameliorates Movement Defects and Synapse Morphology in MYO9A-Depleted Zebrafish.

O'Connor E, Cairns G, Spendiff S, Burns D, Hettwer S, Mäder A, Müller J, Horvath R, Slater C, Roos A, Lochmüller H. O'Connor E, et al. Among authors: spendiff s. Cells. 2019 Aug 7;8(8):848. doi: 10.3390/cells8080848. Cells. 2019. PMID: 31394789 Free PMC article.

9

Advances in the diagnosis of inherited neuromuscular diseases and implications for therapy development.

Thompson R, Spendiff S, Roos A, Bourque PR, Warman Chardon J, Kirschner J, Horvath R, Lochmüller H. Thompson R, et al. Among authors: spendiff s. Lancet Neurol. 2020 Jun;19(6):522-532. doi: 10.1016/S1474-4422(20)30028-4. Epub 2020 May 26. Lancet Neurol. 2020. PMID: 32470424 Review.

10

Modulation of the Acetylcholine Receptor Clustering Pathway Improves Neuromuscular Junction Structure and Muscle Strength in a Mouse Model of Congenital Myasthenic Syndrome.

Spendiff S, Howarth R, McMacken G, Davey T, Quinlan K, O'Connor E, Slater C, Hettwer S, Mäder A, Roos A, Horvath R, Lochmüller H. Spendiff S, et al. Front Mol Neurosci. 2020 Dec 17;13:594220. doi: 10.3389/fnmol.2020.594220. eCollection 2020. Front Mol Neurosci. 2020. PMID: 33390901 Free PMC article.

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