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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: wolf ni. Neurol Genet. 2019 Oct 30;5(6):e369. doi: 10.1212/NXG.0000000000000369. eCollection 2019 Dec. Neurol Genet. 2019. PMID: 32042905 Free PMC article.
AGC1 deficiency and cerebral hypomyelination.
Wolf NI, van der Knaap MS. Wolf NI, et al. 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. Among authors: wolf ni. 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: wolf ni. Brain. 2010 Oct;133(10):2971-82. doi: 10.1093/brain/awq257. Brain. 2010. PMID: 20881161 Free PMC article.
N-acetylaspartylglutamate in CNS hypomyelination.
Wamelink MM, Struys E, Holwerda U, Sistermans EA, van Spaendonk RM, Halley D, Willemsen MA, Jakobs C, van der Knaap MS, Wolf NI. Wamelink MM, et al. Among authors: wolf ni. Neuropediatrics. 2011 Feb;42(2):74-7. doi: 10.1055/s-0031-1277176. Epub 2011 May 3. Neuropediatrics. 2011. PMID: 21544765
Adult-onset autosomal dominant leukodystrophy due to LMNB1 gene duplication.
Dos Santos MM, Grond-Ginsbach C, Aksay SS, Chen B, Tchatchou S, Wolf NI, van der Knaap MS, Grau AJ. Dos Santos MM, et al. Among authors: wolf ni. J Neurol. 2012 Mar;259(3):579-81. doi: 10.1007/s00415-011-6225-4. Epub 2011 Sep 10. J Neurol. 2012. PMID: 21909802 No abstract available.
225 results