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Isolated bulbar palsy and dysphagia in children with respiratory symptoms.
Zimmels S, Balfour-Lynn IM, Christodoulou L, Pantazi M, Pavlidou E, Pitt M, Kinali M, Ismayilova N. Zimmels S, et al. Among authors: pitt m. Dev Med Child Neurol. 2022 Apr;64(4):518-522. doi: 10.1111/dmcn.15074. Epub 2021 Oct 2. Dev Med Child Neurol. 2022. PMID: 34601721 Free article.
Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency.
Pavlidou E, Salpietro V, Phadke R, Hargreaves IP, Batten L, McElreavy K, Pitt M, Mankad K, Wilson C, Cutrupi MC, Ruggieri M, McCormick D, Saggar A, Kinali M. Pavlidou E, et al. Among authors: pitt m. Eur J Paediatr Neurol. 2016 May;20(3):483-8. doi: 10.1016/j.ejpn.2015.12.016. Epub 2016 Jan 11. Eur J Paediatr Neurol. 2016. PMID: 26805434
Whole exome sequencing reveals a MLL de novo mutation associated with mild developmental delay and without 'hairy elbows': expanding the phenotype of Wiedemann-Steiner syndrome.
Steel D, Salpietro V, Phadke R, Pitt M, Gentile G, Massoud A, Batten L, Bashamboo A, Mcelreavey K, Saggar A, Kinali M. Steel D, et al. Among authors: pitt m. J Genet. 2015 Dec;94(4):755-8. doi: 10.1007/s12041-015-0578-x. J Genet. 2015. PMID: 26690532 Free article. No abstract available.
Congenital lower brachial plexus palsy due to cervical ribs.
Desurkar A, Mills K, Pitt M, Jan W, Sinisi M, Male I, Wraige E. Desurkar A, et al. Among authors: pitt m. Dev Med Child Neurol. 2011 Feb;53(2):188-90. doi: 10.1111/j.1469-8749.2010.03841.x. Dev Med Child Neurol. 2011. PMID: 21244414 Free article.
Acquired neuromyotonia in children with CASPR2 and LGI1 antibodies.
Surana S, Kumar R, Pitt M, Hafner P, Mclellan A, Davidson J, Prabakhar P, Vincent A, Hacohen Y, Wright S. Surana S, et al. Among authors: pitt m. Dev Med Child Neurol. 2019 Nov;61(11):1344-1347. doi: 10.1111/dmcn.14179. Epub 2019 Feb 6. Dev Med Child Neurol. 2019. PMID: 30724344 Free article.
825 results