 Connection
Curtis Coughlin II to Aldehyde Dehydrogenase
This is a "connection" page, showing publications Curtis Coughlin II has written about Aldehyde Dehydrogenase.
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Connection Strength |
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1.352 |
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Coughlin CR, Swanson MA, Spector E, Meeks NJL, Kronquist KE, Aslamy M, Wempe MF, van Karnebeek CDM, Gospe SM, Aziz VG, Tsai BP, Gao H, Nagy PL, Hyland K, van Dooren SJM, Salomons GS, Van Hove JLK. The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy. J Inherit Metab Dis. 2019 03; 42(2):353-361.
Score: 0.607
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Coughlin CR, Tseng LA, Bok LA, Hartmann H, Footitt E, Striano P, Tabarki BM, Lunsing RJ, Stockler-Ipsiroglu S, Gordon S, Van Hove JLK, Abdenur JE, Boyer M, Longo N, Andrews A, Janssen MCH, van Wegberg A, Prasad C, Prasad AN, Lamb MM, Wijburg FA, Gospe SM, van Karnebeek C. Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy. Neurology. 2022 Dec 05; 99(23):e2627-e2636.
Score: 0.197
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Coughlin CR, Tseng LA, van Karnebeek CDM. A case for newborn screening for pyridoxine-dependent epilepsy. Cold Spring Harb Mol Case Stud. 2022 02; 8(2).
Score: 0.188
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Coughlin CR, 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, 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. Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to a-aminoadipic semialdehyde dehydrogenase deficiency. J Inherit Metab Dis. 2021 01; 44(1):178-192.
Score: 0.172
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van Karnebeek CD, Hartmann H, Jaggumantri S, Bok LA, Cheng B, Connolly M, Coughlin CR, Das AM, Gospe SM, Jakobs C, van der Lee JH, Mercimek-Mahmutoglu S, Meyer U, Struys E, Sinclair G, Van Hove J, Collet JP, Plecko BR, Stockler S. Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials. Mol Genet Metab. 2012 Nov; 107(3):335-44.
Score: 0.097
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Tseng LA, Hoytema van Konijnenburg EMM, Longo N, Andrews A, van Wegberg A, Coene KLM, Coughlin CR, van Karnebeek CDM. Clinical Reasoning: Pediatric Seizures of Unknown Cause. Neurology. 2022 06 14; 98(24):1023-1028.
Score: 0.047
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Strijker M, Tseng LA, van Avezaath LK, Oude Luttikhuis MAM, Ketelaar T, Coughlin CR, Coenen MA, van Spronsen FJ, Williams M, de Vries MC, Westerlaan HE, Bok LA, van Karnebeek CDM, Lunsing RJ. Cognitive and neurological outcome of patients in the Dutch pyridoxine-dependent epilepsy (PDE-ALDH7A1) cohort, a cross-sectional study. Eur J Paediatr Neurol. 2021 Jul; 33:112-120.
Score: 0.044
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Connection Strength
The connection strength for concepts is the sum of the scores for each matching publication.
Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.
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