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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: van de warrenburg b, van spaendonk rml, van der knaap ms. 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: van der merwe w, van der knaap ms. 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.
AGC1 deficiency and cerebral hypomyelination.
Wolf NI, van der Knaap MS. Wolf NI, et al. Among authors: van der knaap ms. N Engl J Med. 2009 Nov 12;361(20):1997-8; author reply 1998. doi: 10.1056/NEJMc091723. N Engl J Med. 2009. PMID: 19907050 No abstract available.
Hypomyelination versus delayed myelination.
van der Knaap MS, Wolf NI. van der Knaap MS, et al. Ann Neurol. 2010 Jul;68(1):115. doi: 10.1002/ana.21751. Ann Neurol. 2010. PMID: 20582949 No abstract available.
Magnetic resonance imaging pattern recognition in hypomyelinating disorders.
Steenweg ME, Vanderver A, Blaser S, Bizzi A, de Koning TJ, Mancini GM, van Wieringen WN, Barkhof F, Wolf NI, van der Knaap MS. Steenweg ME, et al. Among authors: van wieringen wn, van der knaap ms. Brain. 2010 Oct;133(10):2971-82. doi: 10.1093/brain/awq257. Brain. 2010. PMID: 20881161 Free PMC article.
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.
Namavar Y, Barth PG, Kasher PR, van Ruissen F, Brockmann K, Bernert G, Writzl K, Ventura K, Cheng EY, Ferriero DM, Basel-Vanagaite L, Eggens VR, Krägeloh-Mann I, De Meirleir L, King M, Graham JM Jr, von Moers A, Knoers N, Sztriha L, Korinthenberg R; PCH Consortium; Dobyns WB, Baas F, Poll-The BT. Namavar Y, et al. Brain. 2011 Jan;134(Pt 1):143-56. doi: 10.1093/brain/awq287. Epub 2010 Oct 15. Brain. 2011. PMID: 20952379 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: van wieringen wn, van berkel cg, van der knaap ms. Neurology. 2010 Oct 26;75(17):1555-9. doi: 10.1212/WNL.0b013e3181f962ae. Neurology. 2010. PMID: 20975056
461 results