Pysden K - Search Results

1

Variable phenotype including Leigh syndrome with a 9185T>C mutation in the MTATP6 gene.

Childs AM, Hutchin T, Pysden K, Highet L, Bamford J, Livingston J, Crow YJ. Childs AM, et al. Among authors: pysden k. Neuropediatrics. 2007 Dec;38(6):313-6. doi: 10.1055/s-2008-1065355. Neuropediatrics. 2007. PMID: 18461509

2

Intracranial calcification in early infantile Krabbe disease: nothing new under the sun.

Livingston JH, Graziano C, Pysden K, Crow YJ, Mordekar SR, Moroni I, Uziel G. Livingston JH, et al. Among authors: pysden k. Dev Med Child Neurol. 2012 Apr;54(4):376-9. doi: 10.1111/j.1469-8749.2011.04167.x. Epub 2011 Dec 8. Dev Med Child Neurol. 2012. PMID: 22150413 Free article.

3

Endocrine and Bone Monitoring in Boys with Duchenne Muscular Dystrophy; Do we adhere to the standards of care?

Henderson A, Harley G, Horrocks I, Joseph S, Dunne J, Pysden K, Mushtaq T, Wong SC, Childs AM. Henderson A, et al. Among authors: pysden k. J Neuromuscul Dis. 2023;10(6):1143-1144. doi: 10.3233/JND-230144. J Neuromuscul Dis. 2023. PMID: 37927273 Free PMC article. No abstract available.

4

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.

5

Presumed perinatal stroke in a child with Down syndrome and moyamoya disease.

Pysden K, Fallon P, Moorthy B, Ganesan V. Pysden K, et al. Dev Med Child Neurol. 2010 Feb;52(2):212-4. doi: 10.1111/j.1469-8749.2009.03377.x. Epub 2009 Jul 3. Dev Med Child Neurol. 2010. PMID: 19583743 Free article.

6

Spontaneous Dissecting Lenticulostriate Artery Aneurysm in Children: Radiologic Findings and Clinical Management.

Yap L, Patankar T, Pysden K, Tyagi A, Goddard T. Yap L, et al. Among authors: pysden k. J Child Neurol. 2015 Jul;30(8):1060-4. doi: 10.1177/0883073814541477. Epub 2014 Jul 29. J Child Neurol. 2015. PMID: 25080469

7

The prevalence of neuromuscular disease in the paediatric population in Yorkshire, UK; variation by ethnicity and deprivation status.

Woodcock IR, Fraser L, Norman P, Pysden K, Manning S, Childs AM. Woodcock IR, et al. Among authors: pysden k. Dev Med Child Neurol. 2016 Aug;58(8):877-83. doi: 10.1111/dmcn.13096. Epub 2016 Mar 9. Dev Med Child Neurol. 2016. PMID: 26968877 Free article.

8

Homozygous intronic variants in TPM2 cause recessively inherited Escobar variant of multiple pterygium syndrome and congenital myopathy.

Schirwani S, Sarkozy A, Phadke R, Childs AM, Mein R, Ismail A, Smith A, Muntoni F, Hobson E, Pysden K. Schirwani S, et al. Among authors: pysden k. Neuromuscul Disord. 2021 Apr;31(4):359-366. doi: 10.1016/j.nmd.2020.09.033. Epub 2020 Oct 3. Neuromuscul Disord. 2021. PMID: 33558124

9

Ulrick N, Goldstein A, Simons C, Taft RJ, Helman G, Pizzino A, Bloom M, Vogt J, Pysden K, Diodato D, Martinelli D, Monavari A, Buhas D, van Karnebeek CD, Dorboz I, Boespflug-Tanguy O, Rodriguez D, Tétreault M, Majewski J, Bernard G, Ng YS; Care4Rare Canada Consortium; McFarland R, Vanderver A. Ulrick N, et al. Among authors: pysden k. Pediatr Neurol. 2017 Jan;66:59-62. doi: 10.1016/j.pediatrneurol.2016.09.003. Epub 2016 Sep 13. Pediatr Neurol. 2017. PMID: 27843092

10

Carbamazepine Improves Apneic Episodes in Congenital Central Hypoventilation Syndrome (CCHS) With a Novel PHOX2B Exon 1 Missense Mutation.

Schirwani S, Pysden K, Chetcuti P, Blyth M. Schirwani S, et al. Among authors: pysden k. J Clin Sleep Med. 2017 Nov 15;13(11):1359-1362. doi: 10.5664/jcsm.6818. J Clin Sleep Med. 2017. PMID: 28992836 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

28 results

Search Page

Filters