de Sousa C - Search Results

1

Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2.

Glamuzina E, Brown R, Hogarth K, Saunders D, Russell-Eggitt I, Pitt M, de Sousa C, Rahman S, Brown G, Grunewald S. Glamuzina E, et al. Among authors: de sousa c. J Inherit Metab Dis. 2012 May;35(3):459-67. doi: 10.1007/s10545-011-9413-6. Epub 2011 Nov 16. J Inherit Metab Dis. 2012. PMID: 22086604

2

Brown-Vialetto-van Laere syndrome: a riboflavin responsive neuronopathy of infancy with singular features.

Spagnoli C, Pitt MC, Rahman S, de Sousa C. Spagnoli C, et al. Among authors: de sousa c. Eur J Paediatr Neurol. 2014 Mar;18(2):231-4. doi: 10.1016/j.ejpn.2013.09.006. Epub 2013 Oct 16. Eur J Paediatr Neurol. 2014. PMID: 24206674

3

Clinical and neurophysiological characteristics of congenital myasthenic syndromes presenting in early infancy.

Zafeiriou DI, Pitt M, de Sousa C. Zafeiriou DI, et al. Among authors: de sousa c. Brain Dev. 2004 Jan;26(1):47-52. doi: 10.1016/s0387-7604(03)00096-2. Brain Dev. 2004. PMID: 14729415

4

Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration.

Loupatty FJ, Clayton PT, Ruiter JP, Ofman R, Ijlst L, Brown GK, Thorburn DR, Harris RA, Duran M, Desousa C, Krywawych S, Heales SJ, Wanders RJ. Loupatty FJ, et al. Am J Hum Genet. 2007 Jan;80(1):195-9. doi: 10.1086/510725. Epub 2006 Nov 30. Am J Hum Genet. 2007. PMID: 17160907 Free PMC article.

5

Immune mediated chorea encephalopathy syndrome in childhood.

Hartley LM, Ng SY, Dale RC, Church AJ, Martinez A, de Sousa C. Hartley LM, et al. Among authors: de sousa c. Dev Med Child Neurol. 2002 Apr;44(4):273-7. doi: 10.1017/s0012162201002055. Dev Med Child Neurol. 2002. PMID: 11995896 Free article.

6

Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene.

Ebberink MS, Csanyi B, Chong WK, Denis S, Sharp P, Mooijer PA, Dekker CJ, Spooner C, Ngu LH, De Sousa C, Wanders RJ, Fietz MJ, Clayton PT, Waterham HR, Ferdinandusse S. Ebberink MS, et al. Among authors: de sousa c. J Med Genet. 2010 Sep;47(9):608-15. doi: 10.1136/jmg.2009.074302. Epub 2010 Jul 20. J Med Genet. 2010. PMID: 20647552 Free article.

7

Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease - treatable motor neuron diseases of childhood.

Spagnoli C, De Sousa C. Spagnoli C, et al. Among authors: de sousa c. Dev Med Child Neurol. 2012 Apr;54(4):292-3. doi: 10.1111/j.1469-8749.2011.04179.x. Epub 2011 Dec 29. Dev Med Child Neurol. 2012. PMID: 22211384 Free article. Review. No abstract available.

8

Retrospective study of the investigations of children presenting with lower limbs spasticity in a single institution.

Spagnoli C, de Sousa C. Spagnoli C, et al. Among authors: de sousa c. Neuropediatrics. 2014 Apr;45(2):109-16. doi: 10.1055/s-0033-1363297. Epub 2013 Dec 21. Neuropediatrics. 2014. PMID: 24363206

9

A prospective study of the presentation and management of dancing eye syndrome/opsoclonus-myoclonus syndrome in the United Kingdom.

Pang KK, de Sousa C, Lang B, Pike MG. Pang KK, et al. Among authors: de sousa c. Eur J Paediatr Neurol. 2010 Mar;14(2):156-61. doi: 10.1016/j.ejpn.2009.03.002. Epub 2009 May 6. Eur J Paediatr Neurol. 2010. PMID: 19423368

10

Acute disseminated encephalomyelitis, multiphasic disseminated encephalomyelitis and multiple sclerosis in children.

Dale RC, de Sousa C, Chong WK, Cox TC, Harding B, Neville BG. Dale RC, et al. Among authors: de sousa c. Brain. 2000 Dec;123 Pt 12:2407-22. doi: 10.1093/brain/123.12.2407. Brain. 2000. PMID: 11099444 Clinical Trial.

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