Spendiff S - Search Results

1

260th ENMC International Workshop: Congenital myasthenic syndromes 11-13 March 2022, Hoofddorp, The Netherlands.

Spendiff S, Dong Y, Maggi L, Rodríguez Cruz PM, Beeson D, Lochmüller H; ENMC 260th workshop study group. Spendiff S, et al. Neuromuscul Disord. 2023 Sep;33(9):111-118. doi: 10.1016/j.nmd.2022.12.006. Epub 2022 Dec 14. Neuromuscul Disord. 2023. PMID: 36609117 No abstract available.

2

Fidelity of muscle fibre reinnervation modulates ageing muscle impact in elderly women.

Sonjak V, Jacob K, Morais JA, Rivera-Zengotita M, Spendiff S, Spake C, Taivassalo T, Chevalier S, Hepple RT. Sonjak V, et al. Among authors: spendiff s. J Physiol. 2019 Oct;597(19):5009-5023. doi: 10.1113/JP278261. Epub 2019 Aug 21. J Physiol. 2019. PMID: 31368533 Free article.

3

Failed reinnervation in aging skeletal muscle.

Aare S, Spendiff S, Vuda M, Elkrief D, Perez A, Wu Q, Mayaki D, Hussain SN, Hettwer S, Hepple RT. Aare S, et al. Among authors: spendiff s. Skelet Muscle. 2016 Sep 1;6(1):29. doi: 10.1186/s13395-016-0101-y. eCollection 2016. Skelet Muscle. 2016. PMID: 27588166 Free PMC article.

4

Denervation drives mitochondrial dysfunction in skeletal muscle of octogenarians.

Spendiff S, Vuda M, Gouspillou G, Aare S, Perez A, Morais JA, Jagoe RT, Filion ME, Glicksman R, Kapchinsky S, MacMillan NJ, Pion CH, Aubertin-Leheudre M, Hettwer S, Correa JA, Taivassalo T, Hepple RT. Spendiff S, et al. J Physiol. 2016 Dec 15;594(24):7361-7379. doi: 10.1113/JP272487. Epub 2016 Oct 23. J Physiol. 2016. PMID: 27619626 Free PMC article.

5

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.

6

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.

7

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.

8

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

9

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.

10

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.

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