Surtees R - Search Results

1

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC).

Briggs TA, Abdel-Salam GM, Balicki M, Baxter P, Bertini E, Bishop N, Browne BH, Chitayat D, Chong WK, Eid MM, Halliday W, Hughes I, Klusmann-Koy A, Kurian M, Nischal KK, Rice GI, Stephenson JB, Surtees R, Talbot JF, Tehrani NN, Tolmie JL, Toomes C, van der Knaap MS, Crow YJ. Briggs TA, et al. Among authors: surtees r. Am J Med Genet A. 2008 Jan 15;146A(2):182-90. doi: 10.1002/ajmg.a.32080. Am J Med Genet A. 2008. PMID: 18076099

2

Virchow-Robin spaces on magnetic resonance images: normative data, their dilatation, and a review of the literature.

Groeschel S, Chong WK, Surtees R, Hanefeld F. Groeschel S, et al. Among authors: surtees r. Neuroradiology. 2006 Oct;48(10):745-54. doi: 10.1007/s00234-006-0112-1. Epub 2006 Aug 5. Neuroradiology. 2006. PMID: 16896908 Review.

3

Painful and painless ophthalmoplegia with cavernous sinus pseudotumour.

Ganesan V, Lin JP, Chong WK, Kirkham FJ, Surtees RA. Ganesan V, et al. Among authors: surtees ra. Arch Dis Child. 1996 Sep;75(3):239-41. doi: 10.1136/adc.75.3.239. Arch Dis Child. 1996. PMID: 8976666 Free PMC article.

4

Pantothenate kinase 2 mutation with classic pantothenate-kinase-associated neurodegeneration without 'eye-of-the-tiger' sign on MRI in a pair of siblings.

Zolkipli Z, Dahmoush H, Saunders DE, Chong WK, Surtees R. Zolkipli Z, et al. Among authors: surtees r. Pediatr Radiol. 2006 Aug;36(8):884-6. doi: 10.1007/s00247-006-0205-3. Epub 2006 Jun 7. Pediatr Radiol. 2006. PMID: 16758184

5

Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease.

Wolf NI, Sistermans EA, Cundall M, Hobson GM, Davis-Williams AP, Palmer R, Stubbs P, Davies S, Endziniene M, Wu Y, Chong WK, Malcolm S, Surtees R, Garbern JY, Woodward KJ. Wolf NI, et al. Among authors: surtees r. Brain. 2005 Apr;128(Pt 4):743-51. doi: 10.1093/brain/awh409. Epub 2005 Feb 2. Brain. 2005. PMID: 15689360

6

Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination.

Wolf NI, Cundall M, Rutland P, Rosser E, Surtees R, Benton S, Chong WK, Malcolm S, Ebinger F, Bitner-Glindzicz M, Woodward KJ. Wolf NI, et al. Among authors: surtees r. Neurogenetics. 2007 Jan;8(1):39-44. doi: 10.1007/s10048-006-0062-0. Epub 2006 Sep 13. Neurogenetics. 2007. PMID: 16969684

7

Idiopathic catastrophic epileptic encephalopathy presenting with acute onset intractable status.

Baxter P, Clarke A, Cross H, Harding B, Hicks E, Livingston J, Surtees R. Baxter P, et al. Among authors: surtees r. Seizure. 2003 Sep;12(6):379-87. doi: 10.1016/s1059-1311(02)00340-0. Seizure. 2003. PMID: 12915084 Free article.

8

Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation.

Rodriguez D, Gauthier F, Bertini E, Bugiani M, Brenner M, N'guyen S, Goizet C, Gelot A, Surtees R, Pedespan JM, Hernandorena X, Troncoso M, Uziel G, Messing A, Ponsot G, Pham-Dinh D, Dautigny A, Boespflug-Tanguy O. Rodriguez D, et al. Among authors: surtees r. Am J Hum Genet. 2001 Nov;69(5):1134-40. doi: 10.1086/323799. Epub 2001 Sep 20. Am J Hum Genet. 2001. PMID: 11567214 Free PMC article.

9

New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellum.

van der Knaap MS, Naidu S, Pouwels PJ, Bonavita S, van Coster R, Lagae L, Sperner J, Surtees R, Schiffmann R, Valk J. van der Knaap MS, et al. Among authors: surtees r. AJNR Am J Neuroradiol. 2002 Oct;23(9):1466-74. AJNR Am J Neuroradiol. 2002. PMID: 12372733 Free PMC article.

10

GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis.

Mercimek-Mahmutoglu S, Stoeckler-Ipsiroglu S, Adami A, Appleton R, Araújo HC, Duran M, Ensenauer R, Fernandez-Alvarez E, Garcia P, Grolik C, Item CB, Leuzzi V, Marquardt I, Mühl A, Saelke-Kellermann RA, Salomons GS, Schulze A, Surtees R, van der Knaap MS, Vasconcelos R, Verhoeven NM, Vilarinho L, Wilichowski E, Jakobs C. Mercimek-Mahmutoglu S, et al. Among authors: surtees r. Neurology. 2006 Aug 8;67(3):480-4. doi: 10.1212/01.wnl.0000234852.43688.bf. Epub 2006 Jul 19. Neurology. 2006. PMID: 16855203

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