Hartley L - Search Results

1

A congenital myopathy with diaphragmatic weakness not linked to the SMARD1 locus.

Hartley L, Kinali M, Knight R, Mercuri E, Hubner C, Bertini E, Manzur AY, Jimenez-Mallebrera C, Sewry CA, Muntoni F. Hartley L, et al. Neuromuscul Disord. 2007 Feb;17(2):174-9. doi: 10.1016/j.nmd.2006.11.002. Epub 2007 Jan 22. Neuromuscul Disord. 2007. PMID: 17236770

2

A case of severe congenital chronic inflammatory demyelinating polyneuropathy with complete spontaneous remission.

Majumdar A, Hartley L, Manzur AY, King RH, Orrell RW, Muntoni F. Majumdar A, et al. Among authors: hartley l. Neuromuscul Disord. 2004 Dec;14(12):818-21. doi: 10.1016/j.nmd.2004.09.003. Neuromuscul Disord. 2004. PMID: 15564039

3

Occipito-temporal polymicrogyria and subclinical muscular dystrophy.

Zolkipli Z, Hartley L, Brown S, Rutherford M, Cowan F, Mercuri E, Muntoni F. Zolkipli Z, et al. Among authors: hartley l. Neuropediatrics. 2003 Apr;34(2):92-5. doi: 10.1055/s-2003-39600. Neuropediatrics. 2003. PMID: 12776231

4

Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene.

Jungbluth H, Zhou H, Hartley L, Halliger-Keller B, Messina S, Longman C, Brockington M, Robb SA, Straub V, Voit T, Swash M, Ferreiro A, Bydder G, Sewry CA, Müller C, Muntoni F. Jungbluth H, et al. Among authors: hartley l. Neurology. 2005 Dec 27;65(12):1930-5. doi: 10.1212/01.wnl.0000188870.37076.f2. Neurology. 2005. PMID: 16380615

5

UK physicians' attitudes and practices in long-term non-invasive ventilation of Duchenne Muscular Dystrophy.

Kinali M, Manzur AY, Mercuri E, Gibson BE, Hartley L, Simonds AK, Muntoni F. Kinali M, et al. Among authors: hartley l. Pediatr Rehabil. 2006 Oct-Dec;9(4):351-64. doi: 10.1080/13638490600622613. Pediatr Rehabil. 2006. PMID: 17111551

6

Pilot trial of salbutamol in central core and multi-minicore diseases.

Messina S, Hartley L, Main M, Kinali M, Jungbluth H, Muntoni F, Mercuri E. Messina S, et al. Among authors: hartley l. Neuropediatrics. 2004 Oct;35(5):262-6. doi: 10.1055/s-2004-821173. Neuropediatrics. 2004. PMID: 15534757 Clinical Trial.

7

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.

Zaharieva IT, Thor MG, Oates EC, van Karnebeek C, Hendson G, Blom E, Witting N, Rasmussen M, Gabbett MT, Ravenscroft G, Sframeli M, Suetterlin K, Sarkozy A, D'Argenzio L, Hartley L, Matthews E, Pitt M, Vissing J, Ballegaard M, Krarup C, Slørdahl A, Halvorsen H, Ye XC, Zhang LH, Løkken N, Werlauff U, Abdelsayed M, Davis MR, Feng L, Phadke R, Sewry CA, Morgan JE, Laing NG, Vallance H, Ruben P, Hanna MG, Lewis S, Kamsteeg EJ, Männikkö R, Muntoni F. Zaharieva IT, et al. Among authors: hartley l. Brain. 2016 Mar;139(Pt 3):674-91. doi: 10.1093/brain/awv352. Epub 2015 Dec 22. Brain. 2016. PMID: 26700687 Free PMC article.

8

Acetazolamide can improve symptoms and signs in ion channel-related congenital myopathy.

Matthews E, Hartley L, Sud R, Hanna MG, Muntoni F, Munot P. Matthews E, et al. Among authors: hartley l. J Neurol Neurosurg Psychiatry. 2019 Feb;90(2):243-245. doi: 10.1136/jnnp-2017-317849. Epub 2018 May 16. J Neurol Neurosurg Psychiatry. 2019. PMID: 29769250 No abstract available.

9

Early neurodevelopmental assessment in Duchenne muscular dystrophy.

Pane M, Scalise R, Berardinelli A, D'Angelo G, Ricotti V, Alfieri P, Moroni I, Hartley L, Pera MC, Baranello G, Catteruccia M, Casalino T, Romeo DM, Graziano A, Gandioli C, Bianco F, Mazzone ES, Lombardo ME, Scoto M, Sivo S, Palermo C, Gualandi F, Sormani MP, Ferlini A, Bertini E, Muntoni F, Mercuri E. Pane M, et al. Among authors: hartley l. Neuromuscul Disord. 2013 Jun;23(6):451-5. doi: 10.1016/j.nmd.2013.02.012. Epub 2013 Mar 25. Neuromuscul Disord. 2013. PMID: 23535446

10

Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy.

Ricotti V, Ridout DA, Scott E, Quinlivan R, Robb SA, Manzur AY, Muntoni F; NorthStar Clinical Network. Ricotti V, et al. J Neurol Neurosurg Psychiatry. 2013 Jun;84(6):698-705. doi: 10.1136/jnnp-2012-303902. Epub 2012 Dec 18. J Neurol Neurosurg Psychiatry. 2013. PMID: 23250964 Clinical Trial.

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