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Items: 1 to 50 of 83

1.

A framework for measurement and harmonization of pediatric multiple sclerosis etiologic research studies: The Pediatric MS Tool-Kit.

Magalhaes S, Banwell B, Bar-Or A, Fortier I, Hanwell HE, Lim M, Matt GE, Neuteboom RF, O'Riordan DL, Schneider PK, Pugliatti M, Shatenstein B, Tansey CM, Wassmer E, Wolfson C.

Mult Scler. 2018 Jun 1:1352458518783345. doi: 10.1177/1352458518783345. [Epub ahead of print]

PMID:
29932341
2.

Retinal nerve fibre layer thinning is associated with worse visual outcome after optic neuritis in children with a relapsing demyelinating syndrome.

Eyre M, Hameed A, Wright S, Brownlee W, Ciccarelli O, Bowman R, Lim M, Wassmer E, Thompson D, Hemingway C, Hacohen Y.

Dev Med Child Neurol. 2018 Apr 11. doi: 10.1111/dmcn.13757. [Epub ahead of print]

PMID:
29637998
3.

Myelin oligodendrocyte glycoprotein and aquaporin-4 antibodies are highly specific in children with acquired demyelinating syndromes.

Duignan S, Wright S, Rossor T, Cazabon J, Gilmour K, Ciccarelli O, Wassmer E, Lim M, Hemingway C, Hacohen Y.

Dev Med Child Neurol. 2018 Feb 22. doi: 10.1111/dmcn.13703. [Epub ahead of print]

PMID:
29468668
4.

Paediatric acute disseminated encephalomyelitis followed by optic neuritis: disease course, treatment response and outcome.

Wong YYM, Hacohen Y, Armangue T, Wassmer E, Verhelst H, Hemingway C, van Pelt ED, Catsman-Berrevoets CE, Hintzen RQ, Deiva K, Lim MJ, Rostásy K, Neuteboom RF.

Eur J Neurol. 2018 May;25(5):782-786. doi: 10.1111/ene.13602. Epub 2018 Mar 9.

PMID:
29443442
5.

Disease Course and Treatment Responses in Children With Relapsing Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease.

Hacohen Y, Wong YY, Lechner C, Jurynczyk M, Wright S, Konuskan B, Kalser J, Poulat AL, Maurey H, Ganelin-Cohen E, Wassmer E, Hemingway C, Forsyth R, Hennes EM, Leite MI, Ciccarelli O, Anlar B, Hintzen R, Marignier R, Palace J, Baumann M, Rostásy K, Neuteboom R, Deiva K, Lim M.

JAMA Neurol. 2018 Apr 1;75(4):478-487. doi: 10.1001/jamaneurol.2017.4601.

PMID:
29305608
6.

'Leukodystrophy-like' phenotype in children with myelin oligodendrocyte glycoprotein antibody-associated disease.

Hacohen Y, Rossor T, Mankad K, Chong W', Lux A, Wassmer E, Lim M, Barkhof F, Ciccarelli O, Hemingway C.

Dev Med Child Neurol. 2018 Apr;60(4):417-423. doi: 10.1111/dmcn.13649. Epub 2017 Dec 30.

PMID:
29288492
7.

Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.

Maas RR, Iwanicka-Pronicka K, Kalkan Ucar S, Alhaddad B, AlSayed M, Al-Owain MA, Al-Zaidan HI, Balasubramaniam S, Barić I, Bubshait DK, Burlina A, Christodoulou J, Chung WK, Colombo R, Darin N, Freisinger P, Garcia Silva MT, Grunewald S, Haack TB, van Hasselt PM, Hikmat O, Hörster F, Isohanni P, Ramzan K, Kovacs-Nagy R, Krumina Z, Martin-Hernandez E, Mayr JA, McClean P, De Meirleir L, Naess K, Ngu LH, Pajdowska M, Rahman S, Riordan G, Riley L, Roeben B, Rutsch F, Santer R, Schiff M, Seders M, Sequeira S, Sperl W, Staufner C, Synofzik M, Taylor RW, Trubicka J, Tsiakas K, Unal O, Wassmer E, Wedatilake Y, Wolff T, Prokisch H, Morava E, Pronicka E, Wevers RA, de Brouwer AP, Wortmann SB.

Ann Neurol. 2017 Dec;82(6):1004-1015. doi: 10.1002/ana.25110.

8.

Radiologically isolated syndrome in children: Clinical and radiologic outcomes.

Makhani N, Lebrun C, Siva A, Brassat D, Carra Dallière C, de Seze J, Du W, Durand Dubief F, Kantarci O, Langille M, Narula S, Pelletier J, Rojas JI, Shapiro ED, Stone RT, Tintoré M, Uygunoglu U, Vermersch P, Wassmer E, Okuda DT, Pelletier D.

Neurol Neuroimmunol Neuroinflamm. 2017 Sep 25;4(6):e395. doi: 10.1212/NXI.0000000000000395. eCollection 2017 Nov.

9.

Endocrinopathies in paediatric-onset neuromyelitis optica spectrum disorder with aquaporin 4 (AQP4) antibody.

Hacohen Y, Messina S, Gan HW, Wright S, Chandratre S, Leite MI, Fallon P, Vincent A, Ciccarelli O, Wassmer E, Lim M, Palace J, Hemingway C.

Mult Scler. 2018 Apr;24(5):679-684. doi: 10.1177/1352458517726593. Epub 2017 Aug 14.

PMID:
28803524
10.

Diagnostic algorithm for relapsing acquired demyelinating syndromes in children.

Hacohen Y, Mankad K, Chong WK, Barkhof F, Vincent A, Lim M, Wassmer E, Ciccarelli O, Hemingway C.

Neurology. 2017 Jul 18;89(3):269-278. doi: 10.1212/WNL.0000000000004117. Epub 2017 Jun 14.

PMID:
28615429
11.

Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy.

Darin N, Reid E, Prunetti L, Samuelsson L, Husain RA, Wilson M, El Yacoubi B, Footitt E, Chong WK, Wilson LC, Prunty H, Pope S, Heales S, Lascelles K, Champion M, Wassmer E, Veggiotti P, de Crécy-Lagard V, Mills PB, Clayton PT.

Am J Hum Genet. 2016 Dec 1;99(6):1325-1337. doi: 10.1016/j.ajhg.2016.10.011.

12.

Pediatric optic neuritis.

Yeh EA, Graves JS, Benson LA, Wassmer E, Waldman A.

Neurology. 2016 Aug 30;87(9 Suppl 2):S53-8. doi: 10.1212/WNL.0000000000002822. Review.

PMID:
27572862
13.

Pediatric multiple sclerosis: Perspectives from adolescents and their families.

Krupp LB, Rintell D, Charvet LE, Milazzo M, Wassmer E.

Neurology. 2016 Aug 30;87(9 Suppl 2):S4-7. doi: 10.1212/WNL.0000000000002879.

PMID:
27572860
14.

International Pediatric MS Study Group Global Members Symposium report.

Wassmer E, Chitnis T, Pohl D, Amato MP, Banwell B, Ghezzi A, Hintzen RQ, Krupp LB, Makhani N, Rostásy K, Tardieu M, Tenembaum S, Waldman A, Waubant E, Kornberg AJ.

Neurology. 2016 Aug 30;87(9 Suppl 2):S110-6. doi: 10.1212/WNL.0000000000002880. Review.

PMID:
27572855
15.

N-methyl-d-aspartate (NMDA) receptor antibodies encephalitis mimicking an autistic regression.

Hacohen Y, Wright S, Gadian J, Vincent A, Lim M, Wassmer E, Lin JP.

Dev Med Child Neurol. 2016 Oct;58(10):1092-4. doi: 10.1111/dmcn.13169. Epub 2016 Jun 3.

16.

Neuromyelitis optica relapses: Race and rate, immunosuppression and impairment.

Tackley G, O'Brien F, Rocha J, Woodhall M, Waters P, Chandratre S, Halfpenny C, Hemingway C, Wassmer E, Wasiewski W, Leite MI, Palace J.

Mult Scler Relat Disord. 2016 May;7:21-5. doi: 10.1016/j.msard.2016.02.014. Epub 2016 Feb 16.

PMID:
27237752
17.

Diffuse hypomyelination is not obligate for POLR3-related disorders.

La Piana R, Cayami FK, Tran LT, Guerrero K, van Spaendonk R, Õunap K, Pajusalu S, Haack T, Wassmer E, Timmann D, Mierzewska H, Poll-Thé BT, Patel C, Cox H, Atik T, Onay H, Ozkınay F, Vanderver A, van der Knaap MS, Wolf NI, Bernard G.

Neurology. 2016 Apr 26;86(17):1622-6. doi: 10.1212/WNL.0000000000002612. Epub 2016 Mar 30.

18.

Outcome and recurrence one year after paediatric arterial ischaemic stroke in a population-based cohort.

Mallick AA, Ganesan V, Kirkham FJ, Fallon P, Hedderly T, McShane T, Parker AP, Wassmer E, Wraige E, Amin S, Edwards HB, Cortina-Borja M, O'Callaghan FJ.

Ann Neurol. 2016 Mar 1. doi: 10.1002/ana.24626. [Epub ahead of print]

PMID:
26928665
19.

Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study.

Schwahn BC, Van Spronsen FJ, Belaidi AA, Bowhay S, Christodoulou J, Derks TG, Hennermann JB, Jameson E, König K, McGregor TL, Font-Montgomery E, Santamaria-Araujo JA, Santra S, Vaidya M, Vierzig A, Wassmer E, Weis I, Wong FY, Veldman A, Schwarz G.

Lancet. 2015 Nov 14;386(10007):1955-63. doi: 10.1016/S0140-6736(15)00124-5. Epub 2015 Sep 3.

PMID:
26343839
20.

Myelin oligodendrocyte glycoprotein antibodies are associated with a non-MS course in children.

Hacohen Y, Absoud M, Deiva K, Hemingway C, Nytrova P, Woodhall M, Palace J, Wassmer E, Tardieu M, Vincent A, Lim M, Waters P.

Neurol Neuroimmunol Neuroinflamm. 2015 Mar 12;2(2):e81. doi: 10.1212/NXI.0000000000000081. eCollection 2015 Apr.

21.

Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome.

Wortmann SB, van Hasselt PM, Barić I, Burlina A, Darin N, Hörster F, Coker M, Ucar SK, Krumina Z, Naess K, Ngu LH, Pronicka E, Riordan G, Santer R, Wassmer E, Zschocke J, Schiff M, de Meirleir L, Alowain MA, Smeitink JA, Morava E, Kozicz T, Wevers RA, Wolf NI, Willemsen MA.

Neuropediatrics. 2015 Apr;46(2):98-103. doi: 10.1055/s-0034-1399755. Epub 2015 Feb 2.

PMID:
25642805
22.

N-methyl-D-aspartate receptor antibody-mediated neurological disease: results of a UK-based surveillance study in children.

Wright S, Hacohen Y, Jacobson L, Agrawal S, Gupta R, Philip S, Smith M, Lim M, Wassmer E, Vincent A.

Arch Dis Child. 2015 Jun;100(6):521-6. doi: 10.1136/archdischild-2014-306795. Epub 2015 Jan 30.

23.

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Crow YJ, Chase DS, Lowenstein Schmidt J, Szynkiewicz M, Forte GM, Gornall HL, Oojageer A, Anderson B, Pizzino A, Helman G, Abdel-Hamid MS, Abdel-Salam GM, Ackroyd S, Aeby A, Agosta G, Albin C, Allon-Shalev S, Arellano M, Ariaudo G, Aswani V, Babul-Hirji R, Baildam EM, Bahi-Buisson N, Bailey KM, Barnerias C, Barth M, Battini R, Beresford MW, Bernard G, Bianchi M, Billette de Villemeur T, Blair EM, Bloom M, Burlina AB, Carpanelli ML, Carvalho DR, Castro-Gago M, Cavallini A, Cereda C, Chandler KE, Chitayat DA, Collins AE, Sierra Corcoles C, Cordeiro NJ, Crichiutti G, Dabydeen L, Dale RC, D'Arrigo S, De Goede CG, De Laet C, De Waele LM, Denzler I, Desguerre I, Devriendt K, Di Rocco M, Fahey MC, Fazzi E, Ferrie CD, Figueiredo A, Gener B, Goizet C, Gowrinathan NR, Gowrishankar K, Hanrahan D, Isidor B, Kara B, Khan N, King MD, Kirk EP, Kumar R, Lagae L, Landrieu P, Lauffer H, Laugel V, La Piana R, Lim MJ, Lin JP, Linnankivi T, Mackay MT, Marom DR, Marques Lourenço C, McKee SA, Moroni I, Morton JE, Moutard ML, Murray K, Nabbout R, Nampoothiri S, Nunez-Enamorado N, Oades PJ, Olivieri I, Ostergaard JR, Pérez-Dueñas B, Prendiville JS, Ramesh V, Rasmussen M, Régal L, Ricci F, Rio M, Rodriguez D, Roubertie A, Salvatici E, Segers KA, Sinha GP, Soler D, Spiegel R, Stödberg TI, Straussberg R, Swoboda KJ, Suri M, Tacke U, Tan TY, te Water Naude J, Wee Teik K, Thomas MM, Till M, Tonduti D, Valente EM, Van Coster RN, van der Knaap MS, Vassallo G, Vijzelaar R, Vogt J, Wallace GB, Wassmer E, Webb HJ, Whitehouse WP, Whitney RN, Zaki MS, Zuberi SM, Livingston JH, Rozenberg F, Lebon P, Vanderver A, Orcesi S, Rice GI.

Am J Med Genet A. 2015 Feb;167A(2):296-312. doi: 10.1002/ajmg.a.36887. Epub 2015 Jan 16.

24.

Acute idiopathic transverse myelitis in children: early predictors of relapse and disability.

Deiva K, Absoud M, Hemingway C, Hernandez Y, Hussson B, Maurey H, Niotakis G, Wassmer E, Lim M, Tardieu M; United Kingdom Childhood Inflammatory Demyelination (UK-CID) Study and French Kidbiosep Study.

Neurology. 2015 Jan 27;84(4):341-9. doi: 10.1212/WNL.0000000000001179. Epub 2014 Dec 24.

PMID:
25540303
25.

RANBP2 mutation and acute necrotizing encephalopathy: 2 cases and a literature review of the expanding clinico-radiological phenotype.

Singh RR, Sedani S, Lim M, Wassmer E, Absoud M.

Eur J Paediatr Neurol. 2015 Mar;19(2):106-13. doi: 10.1016/j.ejpn.2014.11.010. Epub 2014 Dec 9. Review.

PMID:
25522933
26.

Diagnostic delays in paediatric stroke.

Mallick AA, Ganesan V, Kirkham FJ, Fallon P, Hedderly T, McShane T, Parker AP, Wassmer E, Wraige E, Amin S, Edwards HB, O'Callaghan FJ.

J Neurol Neurosurg Psychiatry. 2015 Aug;86(8):917-21. doi: 10.1136/jnnp-2014-309188. Epub 2014 Oct 23.

PMID:
25342203
27.

NMDA receptor antibodies associated with distinct white matter syndromes.

Hacohen Y, Absoud M, Hemingway C, Jacobson L, Lin JP, Pike M, Pullaperuma S, Siddiqui A, Wassmer E, Waters P, Irani SR, Buckley C, Vincent A, Lim M.

Neurol Neuroimmunol Neuroinflamm. 2014 Apr 24;1(1):e2. doi: 10.1212/NXI.0000000000000002. eCollection 2014 Jun.

28.

Mutations in CECR1 associated with a neutrophil signature in peripheral blood.

Belot A, Wassmer E, Twilt M, Lega JC, Zeef LA, Oojageer A, Kasher PR, Mathieu AL, Malcus C, Demaret J, Fabien N, Collardeau-Frachon S, Mechtouff L, Derex L, Walzer T, Rice GI, Durieu I, Crow YJ.

Pediatr Rheumatol Online J. 2014 Sep 24;12:44. doi: 10.1186/1546-0096-12-44. eCollection 2014.

29.

Paediatric neuromyelitis optica: clinical, MRI of the brain and prognostic features.

Absoud M, Lim MJ, Appleton R, Jacob A, Kitley J, Leite MI, Pike MG, Vincent A, Wassmer E, Waters P, Woodhall M, Hemingway C, Palace J.

J Neurol Neurosurg Psychiatry. 2015 Apr;86(4):470-2. doi: 10.1136/jnnp-2014-308550. Epub 2014 Aug 4.

PMID:
25091363
30.

Utility and safety of rituximab in pediatric autoimmune and inflammatory CNS disease.

Dale RC, Brilot F, Duffy LV, Twilt M, Waldman AT, Narula S, Muscal E, Deiva K, Andersen E, Eyre MR, Eleftheriou D, Brogan PA, Kneen R, Alper G, Anlar B, Wassmer E, Heineman K, Hemingway C, Riney CJ, Kornberg A, Tardieu M, Stocco A, Banwell B, Gorman MP, Benseler SM, Lim M.

Neurology. 2014 Jul 8;83(2):142-50. doi: 10.1212/WNL.0000000000000570. Epub 2014 Jun 11.

31.

Childhood arterial ischaemic stroke incidence, presenting features, and risk factors: a prospective population-based study.

Mallick AA, Ganesan V, Kirkham FJ, Fallon P, Hedderly T, McShane T, Parker AP, Wassmer E, Wraige E, Amin S, Edwards HB, Tilling K, O'Callaghan FJ.

Lancet Neurol. 2014 Jan;13(1):35-43. doi: 10.1016/S1474-4422(13)70290-4. Epub 2013 Dec 2.

PMID:
24304598
32.

Autoantibody biomarkers in childhood-acquired demyelinating syndromes: results from a national surveillance cohort.

Hacohen Y, Absoud M, Woodhall M, Cummins C, De Goede CG, Hemingway C, Jardine PE, Kneen R, Pike MG, Whitehouse WP, Wassmer E, Waters P, Vincent A, Lim M; UK & Ireland Childhood CNS Inflammatory Demyelination Working Group.

J Neurol Neurosurg Psychiatry. 2014 Apr;85(4):456-61. doi: 10.1136/jnnp-2013-306411. Epub 2013 Oct 16.

PMID:
24133290
33.

Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome.

Cross JH, Arora R, Heckemann RA, Gunny R, Chong K, Carr L, Baldeweg T, Differ AM, Lench N, Varadkar S, Sirimanna T, Wassmer E, Hulton SA, Ognjanovic M, Ramesh V, Feather S, Kleta R, Hammers A, Bockenhauer D.

Dev Med Child Neurol. 2013 Sep;55(9):846-56. doi: 10.1111/dmcn.12171.

34.

International Pediatric Multiple Sclerosis Study Group criteria for pediatric multiple sclerosis and immune-mediated central nervous system demyelinating disorders: revisions to the 2007 definitions.

Krupp LB, Tardieu M, Amato MP, Banwell B, Chitnis T, Dale RC, Ghezzi A, Hintzen R, Kornberg A, Pohl D, Rostasy K, Tenembaum S, Wassmer E; International Pediatric Multiple Sclerosis Study Group.

Mult Scler. 2013 Sep;19(10):1261-7. doi: 10.1177/1352458513484547. Epub 2013 Apr 9.

PMID:
23572237
35.

International Pediatric MS Study Group Clinical Trials Summit: meeting report.

Chitnis T, Tardieu M, Amato MP, Banwell B, Bar-Or A, Ghezzi A, Kornberg A, Krupp LB, Pohl D, Rostasy K, Tenembaum S, Waubant E, Wassmer E.

Neurology. 2013 Mar 19;80(12):1161-8. doi: 10.1212/WNL.0b013e318288694e.

36.

Paediatric autoimmune encephalopathies: clinical features, laboratory investigations and outcomes in patients with or without antibodies to known central nervous system autoantigens.

Hacohen Y, Wright S, Waters P, Agrawal S, Carr L, Cross H, De Sousa C, Devile C, Fallon P, Gupta R, Hedderly T, Hughes E, Kerr T, Lascelles K, Lin JP, Philip S, Pohl K, Prabahkar P, Smith M, Williams R, Clarke A, Hemingway C, Wassmer E, Vincent A, Lim MJ.

J Neurol Neurosurg Psychiatry. 2013 Jul;84(7):748-55. doi: 10.1136/jnnp-2012-303807. Epub 2012 Nov 22.

37.

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature.

Rice GI, Kasher PR, Forte GM, Mannion NM, Greenwood SM, Szynkiewicz M, Dickerson JE, Bhaskar SS, Zampini M, Briggs TA, Jenkinson EM, Bacino CA, Battini R, Bertini E, Brogan PA, Brueton LA, Carpanelli M, De Laet C, de Lonlay P, del Toro M, Desguerre I, Fazzi E, Garcia-Cazorla A, Heiberg A, Kawaguchi M, Kumar R, Lin JP, Lourenco CM, Male AM, Marques W Jr, Mignot C, Olivieri I, Orcesi S, Prabhakar P, Rasmussen M, Robinson RA, Rozenberg F, Schmidt JL, Steindl K, Tan TY, van der Merwe WG, Vanderver A, Vassallo G, Wakeling EL, Wassmer E, Whittaker E, Livingston JH, Lebon P, Suzuki T, McLaughlin PJ, Keegan LP, O'Connell MA, Lovell SC, Crow YJ.

Nat Genet. 2012 Nov;44(11):1243-8. doi: 10.1038/ng.2414. Epub 2012 Sep 23.

38.

Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency.

Alston CL, Davison JE, Meloni F, van der Westhuizen FH, He L, Hornig-Do HT, Peet AC, Gissen P, Goffrini P, Ferrero I, Wassmer E, McFarland R, Taylor RW.

J Med Genet. 2012 Sep;49(9):569-77. doi: 10.1136/jmedgenet-2012-101146.

39.

Paediatric acquired demyelinating syndromes: incidence, clinical and magnetic resonance imaging features.

Absoud M, Lim MJ, Chong WK, De Goede CG, Foster K, Gunny R, Hemingway C, Jardine PE, Kneen R, Likeman M, Nischal KK, Pike MG, Sibtain NA, Whitehouse WP, Cummins C, Wassmer E; UK and Ireland Childhood CNS Inflammatory Demyelination Working Group.

Mult Scler. 2013 Jan;19(1):76-86. doi: 10.1177/1352458512445944. Epub 2012 Apr 19.

40.

MRI as diagnostic tool in early-onset peroxisomal disorders.

van der Knaap MS, Wassmer E, Wolf NI, Ferreira P, Topçu M, Wanders RJ, Waterham HR, Ferdinandusse S.

Neurology. 2012 Apr 24;78(17):1304-8. doi: 10.1212/WNL.0b013e31825182dc. Epub 2012 Mar 28.

PMID:
22459681
41.

Consensus statement: evaluation of new and existing therapeutics for pediatric multiple sclerosis.

Chitnis T, Tenembaum S, Banwell B, Krupp L, Pohl D, Rostasy K, Yeh EA, Bykova O, Wassmer E, Tardieu M, Kornberg A, Ghezzi A; International Pediatric Multiple Sclerosis Study Group.

Mult Scler. 2012 Jan;18(1):116-27. doi: 10.1177/1352458511430704. Epub 2011 Dec 6.

PMID:
22146610
42.

Paediatric multiple sclerosis: examining utility of the McDonald 2010 criteria.

Sedani S, Lim MJ, Hemingway C, Wassmer E, Absoud M.

Mult Scler. 2012 May;18(5):679-82. doi: 10.1177/1352458511426815. Epub 2011 Oct 19.

PMID:
22013145
43.

Retention rate of Gabapentin in children with intractable epilepsies at 1 year.

Mills JK, Ruslan NE, Lewis TG, Mughal K, Ali I, Ugar A, Wassmer E, Siddiqua A, Gupta R, Mordekar SR, Sharma R, Sasidharan L, Whitehouse WP.

Seizure. 2012 Jan;21(1):28-31. doi: 10.1016/j.seizure.2011.08.013. Epub 2011 Oct 5.

44.

Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease.

Meyer E, Kurian MA, Morgan NV, McNeill A, Pasha S, Tee L, Younis R, Norman A, van der Knaap MS, Wassmer E, Trembath RC, Brueton L, Maher ER.

Mol Genet Metab. 2011 Dec;104(4):637-43. doi: 10.1016/j.ymgme.2011.08.032. Epub 2011 Sep 8.

PMID:
21959080
45.

KCNJ10 mutations disrupt function in patients with EAST syndrome.

Freudenthal B, Kulaveerasingam D, Lingappa L, Shah MA, Brueton L, Wassmer E, Ognjanovic M, Dorison N, Reichold M, Bockenhauer D, Kleta R, Zdebik AA.

Nephron Physiol. 2011;119(3):p40-8. doi: 10.1159/000330250. Epub 2011 Aug 18.

PMID:
21849804
46.

Prevalence and predictors of vitamin D insufficiency in children: a Great Britain population based study.

Absoud M, Cummins C, Lim MJ, Wassmer E, Shaw N.

PLoS One. 2011;6(7):e22179. doi: 10.1371/journal.pone.0022179. Epub 2011 Jul 22.

47.

Paediatric UK demyelinating disease longitudinal study (PUDDLS).

Absoud M, Cummins C, Chong WK, De Goede C, Foster K, Gunny R, Hemingway C, Jardine P, Kneen R, Likeman M, Lim MJ, Pike M, Sibtain N, Whitehouse WP, Wassmer E.

BMC Pediatr. 2011 Jul 28;11:68. doi: 10.1186/1471-2431-11-68.

48.

Hereditary motor sensory neuropathy (type 1) presenting with transient and persistent central nervous system manifestations: a novel genetic mutation.

Absoud M, Brueton L, Gupta R, Quinlivan R, Wassmer E.

Dev Med Child Neurol. 2011 Apr;53(4):381-2. doi: 10.1111/j.1469-8749.2010.03901.x. Epub 2011 Feb 11. No abstract available.

49.

Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome.

Thompson DA, Feather S, Stanescu HC, Freudenthal B, Zdebik AA, Warth R, Ognjanovic M, Hulton SA, Wassmer E, van't Hoff W, Russell-Eggitt I, Dobbie A, Sheridan E, Kleta R, Bockenhauer D.

J Physiol. 2011 Apr 1;589(Pt 7):1681-9. doi: 10.1113/jphysiol.2010.198531. Epub 2011 Feb 7.

50.

Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study.

Kurian MA, Li Y, Zhen J, Meyer E, Hai N, Christen HJ, Hoffmann GF, Jardine P, von Moers A, Mordekar SR, O'Callaghan F, Wassmer E, Wraige E, Dietrich C, Lewis T, Hyland K, Heales S Jr, Sanger T, Gissen P, Assmann BE, Reith ME, Maher ER.

Lancet Neurol. 2011 Jan;10(1):54-62. doi: 10.1016/S1474-4422(10)70269-6. Epub 2010 Nov 25.

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