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Development of an International Standard Set of Outcomes and Measurement Methods for Routine Practice for Adults with Epilepsy: The International Consortium for Health Outcomes Measurement Consensus Recommendations.
Mitchell JW, Sossi F, Miller I, Jaber PB, Das-Gupta Z, Fialho LS, Amos A, Austin JK, Badzik S, Baker G, Zeev BB, Bolton J, Chaplin JE, Cross JH, Chan D, Gericke CA, Husain AM, Lally L, Mbugua S, Megan C, Mesa T, Nuñez L, von Oertzen TJ, Perucca E, Pullen A, Ronen GM, Sajatovic M, Singh MB, Wilmshurst JM, Wollscheid L, Berg AT. Mitchell JW, et al. Among authors: bolton j. Epilepsia. 2024 May 13. doi: 10.1111/epi.17971. Online ahead of print. Epilepsia. 2024. PMID: 38738754
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Perne C, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Le Pichon JB, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Denommé-Pichon AS, Koh HY, Poduri A, Bolton J, Knopp C, Julia Suh DS, Maier A, Toosi MB, Karimiani EG, Maroofian R, Schaefer GB, Ramakumaran V, Vasudevan P, Banos-Pinero B, Pagnamenta AT, Prasad C, Osmond M, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H; Undiagnosed Diseases Network; Bacino CA, Lee BH, Chao 趙孝端 HT. Paul MS, et al. Among authors: bolton j. Am J Hum Genet. 2024 May 8:S0002-9297(24)00163-0. doi: 10.1016/j.ajhg.2024.04.022. Online ahead of print. Am J Hum Genet. 2024. PMID: 38723631 No abstract available.
Polygenic liability for anxiety in association with comorbid anxiety in multiple sclerosis.
Kowalec K, Harder A, Dolovich C, Fitzgerald KC, Salter A, Lu Y, Bernstein CN, Bolton JM, Cutter G, Fisk JD, Gelernter J, Graff LA, Hägg S, Hitchon CA, Levey DF, Lublin FD, McKay KA, Patten S, Patki A, Stein MB, Tiwari HK, Wolinsky JS, Marrie RA. Kowalec K, et al. Among authors: bolton jm. Ann Clin Transl Neurol. 2024 May 7. doi: 10.1002/acn3.52025. Online ahead of print. Ann Clin Transl Neurol. 2024. PMID: 38715244 Free article.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Perne C, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Le Pichon JB, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Denommé-Pichon AS, Koh HY, Poduri A, Bolton J, Knopp C, Julia Suh DS, Maier A, Toosi MB, Karimiani EG, Maroofian R, Schaefer GB, Ramakumaran V, Vasudevan P, Banos-Pinero B, Pagnamenta AT, Prasad C, Osmond M, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H; Undiagnosed Diseases Network; Bacino CA, Lee BH, Chao HT. Paul MS, et al. Among authors: bolton j. Am J Hum Genet. 2024 Apr 4;111(4):805. doi: 10.1016/j.ajhg.2024.03.009. Epub 2024 Mar 20. Am J Hum Genet. 2024. PMID: 38508193 Free article. No abstract available.
1,171 results