Ouvrier RA - Search Results

1

Confirmed enterovirus encephalitis with associated steroid-responsive acute disseminated encephalomyelitis: an overlapping infection and inflammation syndrome.

Pillai S, Tantsis E, Prelog K, Ramanathan S, Webster R, Ouvrier RA, Kesson A, Brilot F, Dale RC. Pillai S, et al. Among authors: ouvrier ra. Eur J Paediatr Neurol. 2015 Mar;19(2):266-70. doi: 10.1016/j.ejpn.2014.12.015. Epub 2014 Dec 24. Eur J Paediatr Neurol. 2015. PMID: 25576193

2

Infectious and autoantibody-associated encephalitis: clinical features and long-term outcome.

Pillai SC, Hacohen Y, Tantsis E, Prelog K, Merheb V, Kesson A, Barnes E, Gill D, Webster R, Menezes M, Ardern-Holmes S, Gupta S, Procopis P, Troedson C, Antony J, Ouvrier RA, Polfrit Y, Davies NW, Waters P, Lang B, Lim MJ, Brilot F, Vincent A, Dale RC. Pillai SC, et al. Among authors: ouvrier ra. Pediatrics. 2015 Apr;135(4):e974-84. doi: 10.1542/peds.2014-2702. Pediatrics. 2015. PMID: 25802349

3

Eye movement disorders are an early manifestation of CACNA1A mutations in children.

Tantsis EM, Gill D, Griffiths L, Gupta S, Lawson J, Maksemous N, Ouvrier R, Riant F, Smith R, Troedson C, Webster R, Menezes MP. Tantsis EM, et al. Dev Med Child Neurol. 2016 Jun;58(6):639-44. doi: 10.1111/dmcn.13033. Epub 2016 Jan 27. Dev Med Child Neurol. 2016. PMID: 26814174 Free article.

4

Auditory neuropathy in Brown-Vialetto-Van Laere syndrome due to riboflavin transporter RFVT2 deficiency.

Menezes MP, O'Brien K, Hill M, Webster R, Antony J, Ouvrier R, Birman C, Gardner-Berry K. Menezes MP, et al. Dev Med Child Neurol. 2016 Aug;58(8):848-54. doi: 10.1111/dmcn.13084. Epub 2016 Feb 25. Dev Med Child Neurol. 2016. PMID: 26918385 Free article.

5

Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease.

Nafisinia M, Sobreira N, Riley L, Gold W, Uhlenberg B, Weiß C, Boehm C, Prelog K, Ouvrier R, Christodoulou J. Nafisinia M, et al. Eur J Hum Genet. 2017 Oct;25(10):1134-1141. doi: 10.1038/ejhg.2017.119. Epub 2017 Jul 26. Eur J Hum Genet. 2017. PMID: 28905880 Free PMC article.

6

Pathophysiology of motor dysfunction in a childhood motor neuron disease caused by mutations in the riboflavin transporter.

Menezes MP, Farrar MA, Webster R, Antony J, O'Brien K, Ouvrier R, Kiernan MC, Burns J, Vucic S. Menezes MP, et al. Clin Neurophysiol. 2016 Jan;127(1):911-918. doi: 10.1016/j.clinph.2015.05.012. Epub 2015 Jun 3. Clin Neurophysiol. 2016. PMID: 26092362

7

NKX2-1 mutation in a family diagnosed with ataxic dyskinetic cerebral palsy.

McMichael G, Haan E, Gardner A, Yap TY, Thompson S, Ouvrier R, Dale RC, Gecz J, Maclennan AH. McMichael G, et al. Eur J Med Genet. 2013 Sep;56(9):506-9. doi: 10.1016/j.ejmg.2013.07.003. Epub 2013 Jul 30. Eur J Med Genet. 2013. PMID: 23911641

8

Phenotypic insights into ADCY5-associated disease.

Chang FC, Westenberger A, Dale RC, Smith M, Pall HS, Perez-Dueñas B, Grattan-Smith P, Ouvrier RA, Mahant N, Hanna BC, Hunter M, Lawson JA, Max C, Sachdev R, Meyer E, Crimmins D, Pryor D, Morris JG, Münchau A, Grozeva D, Carss KJ, Raymond L, Kurian MA, Klein C, Fung VS. Chang FC, et al. Among authors: ouvrier ra. Mov Disord. 2016 Jul;31(7):1033-40. doi: 10.1002/mds.26598. Epub 2016 Apr 8. Mov Disord. 2016. PMID: 27061943 Free PMC article.

9

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.

Foley AR, Menezes MP, Pandraud A, Gonzalez MA, Al-Odaib A, Abrams AJ, Sugano K, Yonezawa A, Manzur AY, Burns J, Hughes I, McCullagh BG, Jungbluth H, Lim MJ, Lin JP, Megarbane A, Urtizberea JA, Shah AH, Antony J, Webster R, Broomfield A, Ng J, Mathew AA, O'Byrne JJ, Forman E, Scoto M, Prasad M, O'Brien K, Olpin S, Oppenheim M, Hargreaves I, Land JM, Wang MX, Carpenter K, Horvath R, Straub V, Lek M, Gold W, Farrell MO, Brandner S, Phadke R, Matsubara K, McGarvey ML, Scherer SS, Baxter PS, King MD, Clayton P, Rahman S, Reilly MM, Ouvrier RA, Christodoulou J, Züchner S, Muntoni F, Houlden H. Foley AR, et al. Among authors: ouvrier ra. Brain. 2014 Jan;137(Pt 1):44-56. doi: 10.1093/brain/awt315. Epub 2013 Nov 19. Brain. 2014. PMID: 24253200 Free PMC article.

10

Influenza A encephalitis with movement disorder.

Ryan MM, Procopis PG, Ouvrier RA. Ryan MM, et al. Among authors: ouvrier ra. Pediatr Neurol. 1999 Sep;21(3):669-73. doi: 10.1016/s0887-8994(99)00062-4. Pediatr Neurol. 1999. PMID: 10513697

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