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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1981 1
1983 1
1984 1
1985 2
1987 1
1988 1
1989 1
1990 1
1992 3
1993 4
1994 1
1995 1
1996 5
1997 2
1998 3
1999 2
2000 6
2001 2
2002 2
2003 1
2005 3
2006 3
2007 3
2008 3
2009 1
2010 3
2011 3
2012 2
2013 1
2014 1
2015 5
2016 2
2017 3
2018 2
2019 2
2020 2
2021 4
2022 2
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81 results
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Page 1
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.
van Woerden GM, Bos M, de Konink C, Distel B, Avagliano Trezza R, Shur NE, Barañano K, Mahida S, Chassevent A, Schreiber A, Erwin AL, Gripp KW, Rehman F, Brulleman S, McCormack R, de Geus G, Kalsner L, Sorlin A, Bruel AL, Koolen DA, Gabriel MK, Rossi M, Fitzpatrick DR, Wilkie AOM, Calpena E, Johnson D, Brooks A, van Slegtenhorst M, Fleischer J, Groepper D, Lindstrom K, Innes AM, Goodwin A, Humberson J, Noyes A, Langley KG, Telegrafi A, Blevins A, Hoffman J, Guillen Sacoto MJ, Juusola J, Monaghan KG, Punj S, Simon M, Pfundt R, Elgersma Y, Kleefstra T. van Woerden GM, et al. Among authors: distel b. Hum Mutat. 2021 Apr;42(4):445-459. doi: 10.1002/humu.24176. Epub 2021 Mar 1. Hum Mutat. 2021. PMID: 33565190 Free PMC article.
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
Küry S, van Woerden GM, Besnard T, Proietti Onori M, Latypova X, Towne MC, Cho MT, Prescott TE, Ploeg MA, Sanders S, Stessman HAF, Pujol A, Distel B, Robak LA, Bernstein JA, Denommé-Pichon AS, Lesca G, Sellars EA, Berg J, Carré W, Busk ØL, van Bon BWM, Waugh JL, Deardorff M, Hoganson GE, Bosanko KB, Johnson DS, Dabir T, Holla ØL, Sarkar A, Tveten K, de Bellescize J, Braathen GJ, Terhal PA, Grange DK, van Haeringen A, Lam C, Mirzaa G, Burton J, Bhoj EJ, Douglas J, Santani AB, Nesbitt AI, Helbig KL, Andrews MV, Begtrup A, Tang S, van Gassen KLI, Juusola J, Foss K, Enns GM, Moog U, Hinderhofer K, Paramasivam N, Lincoln S, Kusako BH, Lindenbaum P, Charpentier E, Nowak CB, Cherot E, Simonet T, Ruivenkamp CAL, Hahn S, Brownstein CA, Xia F, Schmitt S, Deb W, Bonneau D, Nizon M, Quinquis D, Chelly J, Rudolf G, Sanlaville D, Parent P, Gilbert-Dussardier B, Toutain A, Sutton VR, Thies J, Peart-Vissers LELM, Boisseau P, Vincent M, Grabrucker AM, Dubourg C; Undiagnosed Diseases Network, Tan WH, Verbeek NE, Granzow M, Santen GWE, Shendure J, Isidor B, Pasquier L, Redon R, Yang Y, State MW, Kleefstra T, Cogné B; GEM HUGO; Deciphering Developmental Disorders Study, Petrovski S, Retterer K, Eichler EE, Rosenfeld JA, Agrawal PB, Bézieau S, Odent S, Elgersma Y, Mercier S. Küry S, et al. Among authors: distel b. Am J Hum Genet. 2017 Nov 2;101(5):768-788. doi: 10.1016/j.ajhg.2017.10.003. Am J Hum Genet. 2017. PMID: 29100089 Free PMC article.
Peroxisome isolation.
Distel B, van der Leij I, Kos W. Distel B, et al. Methods Mol Biol. 1996;53:133-8. doi: 10.1385/0-89603-319-8:133. Methods Mol Biol. 1996. PMID: 8924975 Review. No abstract available.
Regulating the human HECT E3 ligases.
Sluimer J, Distel B. Sluimer J, et al. Among authors: distel b. Cell Mol Life Sci. 2018 Sep;75(17):3121-3141. doi: 10.1007/s00018-018-2848-2. Epub 2018 Jun 1. Cell Mol Life Sci. 2018. PMID: 29858610 Free PMC article. Review.
Mono-ubiquitination of Rabphilin 3A by UBE3A serves a non-degradative function.
Avagliano Trezza R, Punt AM, Mientjes E, van den Berg M, Zampeta FI, de Graaf IJ, van der Weegen Y, Demmers JAA, Elgersma Y, Distel B. Avagliano Trezza R, et al. Among authors: distel b. Sci Rep. 2021 Feb 4;11(1):3007. doi: 10.1038/s41598-021-82319-9. Sci Rep. 2021. PMID: 33542309 Free PMC article.
Enzymology of the carnitine biosynthesis pathway.
Strijbis K, Vaz FM, Distel B. Strijbis K, et al. Among authors: distel b. IUBMB Life. 2010 May;62(5):357-62. doi: 10.1002/iub.323. IUBMB Life. 2010. PMID: 20306513 Free article. Review.
Pex13p: docking or cargo handling protein?
Williams C, Distel B. Williams C, et al. Among authors: distel b. Biochim Biophys Acta. 2006 Dec;1763(12):1585-91. doi: 10.1016/j.bbamcr.2006.09.007. Epub 2006 Sep 14. Biochim Biophys Acta. 2006. PMID: 17056133 Free article. Review.
Import of proteins into peroxisomes.
Hettema EH, Distel B, Tabak HF. Hettema EH, et al. Among authors: distel b. Biochim Biophys Acta. 1999 Aug 12;1451(1):17-34. doi: 10.1016/s0167-4889(99)00087-7. Biochim Biophys Acta. 1999. PMID: 10446385 Free article. Review.
Secreted retrovirus-like GAG-domain-containing protein PEG10 is regulated by UBE3A and is involved in Angelman syndrome pathophysiology.
Pandya NJ, Wang C, Costa V, Lopatta P, Meier S, Zampeta FI, Punt AM, Mientjes E, Grossen P, Distler T, Tzouros M, Martí Y, Banfai B, Patsch C, Rasmussen S, Hoener M, Berrera M, Kremer T, Dunkley T, Ebeling M, Distel B, Elgersma Y, Jagasia R. Pandya NJ, et al. Among authors: distel b. Cell Rep Med. 2021 Aug 17;2(8):100360. doi: 10.1016/j.xcrm.2021.100360. eCollection 2021 Aug 17. Cell Rep Med. 2021. PMID: 34467244 Free PMC article.
81 results