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

Year Number of Results
1948 1
1953 1
1987 1
1988 1
1992 1
1993 5
1994 6
1995 7
1996 4
1997 3
1998 6
1999 3
2000 9
2001 8
2002 13
2003 15
2004 14
2005 6
2006 10
2007 4
2008 5
2009 6
2010 6
2011 12
2012 11
2013 12
2014 12
2015 22
2016 19
2017 24
2018 28
2019 27
2020 26
2021 22
2022 18
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Article type
Publication date

Search Results

320 results
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Page 1
Nonketotic Hyperglycinemia.
Van Hove JLK, Coughlin C II, Swanson M, Hennermann JB. Van Hove JLK, et al. 2002 Nov 14 [updated 2019 May 23]. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. 2002 Nov 14 [updated 2019 May 23]. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. PMID: 20301531 Free Books & Documents. Review.
Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.
Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R, Anselm I, Cohen BH, Falk MJ, Greene C, Gropman AL, Haas R, Hirano M, Morgan P, Sims K, Tarnopolsky M, Van Hove JL, Wolfe L, DiMauro S. Parikh S, et al. Among authors: van hove jl. Genet Med. 2015 Sep;17(9):689-701. doi: 10.1038/gim.2014.177. Epub 2014 Dec 11. Genet Med. 2015. PMID: 25503498 Free PMC article. Review.
Case definition and classification of leukodystrophies and leukoencephalopathies.
Vanderver A, Prust M, Tonduti D, Mochel F, Hussey HM, Helman G, Garbern J, Eichler F, Labauge P, Aubourg P, Rodriguez D, Patterson MC, Van Hove JL, Schmidt J, Wolf NI, Boespflug-Tanguy O, Schiffmann R, van der Knaap MS; GLIA Consortium. Vanderver A, et al. Among authors: van hove jl. Mol Genet Metab. 2015 Apr;114(4):494-500. doi: 10.1016/j.ymgme.2015.01.006. Epub 2015 Jan 29. Mol Genet Metab. 2015. PMID: 25649058 Free PMC article. Review.
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.
Coughlin CR 2nd, Tseng LA, Abdenur JE, Ashmore C, Boemer F, Bok LA, Boyer M, Buhas D, Clayton PT, Das A, Dekker H, Evangeliou A, Feillet F, Footitt EJ, Gospe SM Jr, Hartmann H, Kara M, Kristensen E, Lee J, Lilje R, Longo N, Lunsing RJ, Mills P, Papadopoulou MT, Pearl PL, Piazzon F, Plecko B, Saini AG, Santra S, Sjarif DR, Stockler-Ipsiroglu S, Striano P, Van Hove JLK, Verhoeven-Duif NM, Wijburg FA, Zuberi SM, van Karnebeek CDM. Coughlin CR 2nd, et al. Among authors: van hove jlk. J Inherit Metab Dis. 2021 Jan;44(1):178-192. doi: 10.1002/jimd.12332. Epub 2020 Dec 1. J Inherit Metab Dis. 2021. PMID: 33200442
The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy.
Coughlin CR 2nd, Swanson MA, Spector E, Meeks NJL, Kronquist KE, Aslamy M, Wempe MF, van Karnebeek CDM, Gospe SM Jr, Aziz VG, Tsai BP, Gao H, Nagy PL, Hyland K, van Dooren SJM, Salomons GS, Van Hove JLK. Coughlin CR 2nd, et al. Among authors: van hove jlk. J Inherit Metab Dis. 2019 Mar;42(2):353-361. doi: 10.1002/jimd.12045. Epub 2019 Feb 22. J Inherit Metab Dis. 2019. PMID: 30043187 Free PMC article. Review.
Coronary CT Angiography in Patients With Non-ST-Segment Elevation Acute Coronary Syndrome.
Linde JJ, Kelbæk H, Hansen TF, Sigvardsen PE, Torp-Pedersen C, Bech J, Heitmann M, Nielsen OW, Høfsten D, Kühl JT, Raymond IE, Kristiansen OP, Svendsen IH, Vall-Lamora MHD, Kragelund C, de Knegt M, Hove JD, Jørgensen T, Fornitz GG, Steffensen R, Jurlander B, Abdulla J, Lyngbæk S, Elming H, Therkelsen SK, Jørgensen E, Kløvgaard L, Bang LE, Hansen PR, Helqvist S, Galatius S, Pedersen F, Abildgaard U, Clemmensen P, Saunamäki K, Holmvang L, Engstrøm T, Gislason G, Køber LV, Kofoed KF. Linde JJ, et al. Among authors: hove jd. J Am Coll Cardiol. 2020 Feb 11;75(5):453-463. doi: 10.1016/j.jacc.2019.12.012. J Am Coll Cardiol. 2020. PMID: 32029126 Free article. Clinical Trial.
Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia.
Swanson MA, Coughlin CR Jr, Scharer GH, Szerlong HJ, Bjoraker KJ, Spector EB, Creadon-Swindell G, Mahieu V, Matthijs G, Hennermann JB, Applegarth DA, Toone JR, Tong S, Williams K, Van Hove JL. Swanson MA, et al. Among authors: van hove jl. Ann Neurol. 2015 Oct;78(4):606-18. doi: 10.1002/ana.24485. Epub 2015 Aug 10. Ann Neurol. 2015. PMID: 26179960 Free PMC article.
An update on cirrhotic cardiomyopathy.
Møller S, Danielsen KV, Wiese S, Hove JD, Bendtsen F. Møller S, et al. Among authors: hove jd. Expert Rev Gastroenterol Hepatol. 2019 May;13(5):497-505. doi: 10.1080/17474124.2019.1587293. Epub 2019 Mar 8. Expert Rev Gastroenterol Hepatol. 2019. PMID: 30802157 Review.
The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.
Coughlin CR 2nd, Swanson MA, Kronquist K, Acquaviva C, Hutchin T, Rodríguez-Pombo P, Väisänen ML, Spector E, Creadon-Swindell G, Brás-Goldberg AM, Rahikkala E, Moilanen JS, Mahieu V, Matthijs G, Bravo-Alonso I, Pérez-Cerdá C, Ugarte M, Vianey-Saban C, Scharer GH, Van Hove JL. Coughlin CR 2nd, et al. Among authors: van hove jl. Genet Med. 2017 Jan;19(1):104-111. doi: 10.1038/gim.2016.74. Epub 2016 Jun 30. Genet Med. 2017. PMID: 27362913 Free article.
320 results