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Page 1
Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants.
Gauquelin L, Cayami FK, Sztriha L, Yoon G, Tran LT, Guerrero K, Hocke F, van Spaendonk RML, Fung EL, D'Arrigo S, Vasco G, Thiffault I, Niyazov DM, Person R, Lewis KS, Wassmer E, Prescott T, Fallon P, McEntagart M, Rankin J, Webster R, Philippi H, van de Warrenburg B, Timmann D, Dixit A, Searle C; DDD Study,; Thakur N, Kruer MC, Sharma S, Vanderver A, Tonduti D, van der Knaap MS, Bertini E, Goizet C, Fribourg S, Wolf NI, Bernard G. Gauquelin L, et al. Among authors: wassmer e. Neurol Genet. 2019 Oct 30;5(6):e369. doi: 10.1212/NXG.0000000000000369. eCollection 2019 Dec. Neurol Genet. 2019. PMID: 32042905 Free PMC article.
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.
Rice GI, Bond J, Asipu A, Brunette RL, Manfield IW, Carr IM, Fuller JC, Jackson RM, Lamb T, Briggs TA, Ali M, Gornall H, Couthard LR, Aeby A, Attard-Montalto SP, Bertini E, Bodemer C, Brockmann K, Brueton LA, Corry PC, Desguerre I, Fazzi E, Cazorla AG, Gener B, Hamel BC, Heiberg A, Hunter M, van der Knaap MS, Kumar R, Lagae L, Landrieu PG, Lourenco CM, Marom D, McDermott MF, van der Merwe W, Orcesi S, Prendiville JS, Rasmussen M, Shalev SA, Soler DM, Shinawi M, Spiegel R, Tan TY, Vanderver A, Wakeling EL, Wassmer E, Whittaker E, Lebon P, Stetson DB, Bonthron DT, Crow YJ. Rice GI, et al. Among authors: wassmer e. Nat Genet. 2009 Jul;41(7):829-32. doi: 10.1038/ng.373. Epub 2009 Jun 14. Nat Genet. 2009. PMID: 19525956 Free PMC article.
Genotype-phenotype correlation in vanishing white matter disease.
van der Lei HD, van Berkel CG, van Wieringen WN, Brenner C, Feigenbaum A, Mercimek-Mahmutoglu S, Philippart M, Tatli B, Wassmer E, Scheper GC, van der Knaap MS. van der Lei HD, et al. Among authors: wassmer e. Neurology. 2010 Oct 26;75(17):1555-9. doi: 10.1212/WNL.0b013e3181f962ae. Neurology. 2010. PMID: 20975056
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. van der Knaap MS, et al. Among authors: wassmer e. Neurology. 2012 Apr 24;78(17):1304-8. doi: 10.1212/WNL.0b013e31825182dc. Epub 2012 Mar 28. Neurology. 2012. PMID: 22459681 Free article.
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. Rice GI, et al. Among authors: wassmer e. Nat Genet. 2012 Nov;44(11):1243-8. doi: 10.1038/ng.2414. Epub 2012 Sep 23. Nat Genet. 2012. PMID: 23001123 Free PMC article.
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.
Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G; 4H Research Group. Wolf NI, et al. Neurology. 2014 Nov 18;83(21):1898-905. doi: 10.1212/WNL.0000000000001002. Epub 2014 Oct 22. Neurology. 2014. PMID: 25339210 Free PMC article.
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. Mallick AA, et al. Among authors: wassmer e. J Neurol Neurosurg Psychiatry. 2015 Aug;86(8):917-21. doi: 10.1136/jnnp-2014-309188. Epub 2014 Oct 23. J Neurol Neurosurg Psychiatry. 2015. PMID: 25342203
145 results