Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Christopher D. Rittey"'
Publikováno v:
European Journal of Medical Case Reports. :36-39
Autor:
Timothy Jaspan, Santosh R. Mordekar, William P Whitehouse, Christopher D. Rittey, Daniel J.A. Connolly
Publikováno v:
Journal of Pediatric Neurology. :053-056
Acute disseminated encephalomyelitis is an acute demyelinating disorder of the central nervous system, characterized by an encephalopathy, multifocal grey matter and white matter involvement. Pediatric high-grade gliomas represent a heterogeneous gro
Publikováno v:
Journal of Pediatric Neurology. :483-487
We describe four children with an apparently unique form of easily treatable early onset epilepsy. All had an un- remarkable family history, pregnancy and delivery. One child presented with neonatal seizures. None of them had neonatal jaundice. They
Publikováno v:
Developmental Medicine & Child Neurology. 57:600-610
In comparison to hypotonia, hypertonia is less commonly expressed in the neonatal period. The scientific literature on the causes of neonatal hypertonia is scant, with no suggested diagnostic algorithm easily available to clinicians. Aetiologies incl
Autor:
David McCormick, Alexis Arzimanoglou, Lieven Lagae, Sophia Varadkar, Roger Griens, Christopher D. Rittey, Mark Bunker, Dominique Parain, Martha Feucht, Amara K. Jayewardene, Iren Orosz, Paul Boon, Nelia Zamponi, Louis Vallée
Publikováno v:
Epilepsia. 55:1576-1584
SummaryObjective To gain insight into the long-term impact of vagus nerve stimulation (with VNS Therapy) in children with drug-resistant epilepsy, we conducted the largest retrospective multicenter study to date over an extended follow-up period of u
Publikováno v:
Journal of Pediatric Neurosciences
Introduction: Mononeuropathies, in general, are very uncommon in childhood. Sciatic neuropathy (SN) is probably underappreciated in childhood and likely to represent nearly one quarter of childhood mononeuropathies. Materials and Methods: We present
Publikováno v:
Developmental Medicine & Child Neurology. 51:557-562
The aim of the present study was to review the history, clinical course, treatment, and outcome of movement disorders in children and young people with complex regional pain syndrome (CRPS). Case notes were reviewed retrospectively of children and yo
Autor:
Andrew P. Jackson, J.H.L.M. van Bokhoven, Aad Verrips, Colin D. Ferrie, R. Kalmanchey, Ben C.J. Hamel, A. Kelemen, C. G. Woods, J. B P Stephenson, Mary D. King, Robert McWilliam, Emma Roberts, R. Jayatunga, A. Meager, E. van Beusekom, J. Livingstone, G. Karbani, Roger F. Massey, Peter Corry, John Tolmie, Christopher D. Rittey, Peter G. Barth, Yanick J. Crow, Han G. Brunner, Ram L. Kumar, Thomas Voit
Publikováno v:
American Journal of Human Genetics, 67, 213-221
American Journal of Human Genetics, 67, pp. 213-221
American Journal of Human Genetics, 67, 213-221. Cell Press
American Journal of Human Genetics, 67, pp. 213-221
American Journal of Human Genetics, 67, 213-221. Cell Press
We have studied 23 children from 13 families with a clinical diagnosis of Aicardi-Goutières syndrome. Affected individuals had developed an early-onset progressive encephalopathy that was characterized by a normal head circumference at birth, basal
Autor:
Alexander St John Edward Barker, Santosh R. Mordekar, Christopher D. Rittey, R.H. Kandler, Joanne Ng
Publikováno v:
Developmental medicine and child neurology. 54(11)
Hyperventilation-induced high-amplitude rhythmic slow activity with altered awareness (HIHARS) is increasingly being identified in children and is thought to be an age-related non-epileptic electrographic phenomenon. We retrospectively investigated t
A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations
Autor:
Timothy C. Cox, Klaske D. Lichtenbelt, Vijeya Ganesan, Thomas S. Jacques, Pinki Munot, Dianna M. Milewicz, Ellen S. Regalado, Dawn E. Saunders, Kees P.J. Braun, Timothy Kerr, Sunny Philip, John R. Østergaard, Christopher D. Rittey
Publikováno v:
Munot, P, Saunders, D E, Milewicz, D M, Regalado, E S, Østergaard, J R, Braun, K P, Kerr, T, Lichtenbelt, K D, Philip, S, Rittey, C, Jacques, T S, Cox, T C & Ganesan, V 2012, ' A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations ', Brain, vol. 135, no. Pt 8, pp. 2506-14 . https://doi.org/10.1093/brain/aws172
Mutations in the ACTA2 gene lead to diffuse and diverse vascular diseases; the Arg179His mutation is associated with an early onset severe phenotype due to global smooth muscle dysfunction. Cerebrovascular disease associated with ACTA2 mutations has
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54c7a879948ffd382229f372ef979d27
https://pure.au.dk/portal/da/publications/a-novel-distinctive-cerebrovascular-phenotype-is-associated-with-heterozygous-arg179-acta2-mutations(d843ee30-ad89-4c27-986b-576ee7401bbe).html
https://pure.au.dk/portal/da/publications/a-novel-distinctive-cerebrovascular-phenotype-is-associated-with-heterozygous-arg179-acta2-mutations(d843ee30-ad89-4c27-986b-576ee7401bbe).html