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Page 1
SLCO5A1 and synaptic assembly genes contribute to impulsivity in juvenile myoclonic epilepsy.
Roshandel D, Sanders EJ, Shakeshaft A, Panjwani N, Lin F, Collingwood A, Hall A, Keenan K, Deneubourg C, Mirabella F, Topp S, Zarubova J, Thomas RH, Talvik I, Syvertsen M, Striano P, Smith AB, Selmer KK, Rubboli G, Orsini A, Ng CC, Møller RS, Lim KS, Hamandi K, Greenberg DA, Gesche J, Gardella E, Fong CY, Beier CP, Andrade DM, Jungbluth H, Richardson MP, Pastore A, Fanto M, Pal DK, Strug LJ; BIOJUME Consortium. Roshandel D, et al. Among authors: panjwani n. NPJ Genom Med. 2023 Sep 28;8(1):28. doi: 10.1038/s41525-023-00370-z. NPJ Genom Med. 2023. PMID: 37770509 Free PMC article.
Trait impulsivity in Juvenile Myoclonic Epilepsy.
Shakeshaft A, Panjwani N, McDowall R, Crudgington H, Peña Ceballos J, Andrade DM, Beier CP, Fong CY, Gesche J, Greenberg DA, Hamandi K, Koht J, Lim KS, Orsini A, Rees MI, Rubboli G, Selmer KK, Smith AB, Striano P, Syvertsen M, Talvik I, Thomas RH, Zarubova J, Richardson MP, Strug LJ, Pal DK; BIOJUME Consortium. Shakeshaft A, et al. Among authors: panjwani n. Ann Clin Transl Neurol. 2021 Jan;8(1):138-152. doi: 10.1002/acn3.51255. Epub 2020 Dec 2. Ann Clin Transl Neurol. 2021. PMID: 33264519 Free PMC article.
Sex-specific disease modifiers in juvenile myoclonic epilepsy.
Shakeshaft A, Panjwani N, Collingwood A, Crudgington H, Hall A, Andrade DM, Beier CP, Fong CY, Gardella E, Gesche J, Greenberg DA, Hamandi K, Koht J, Lim KS, Møller RS, Ng CC, Orsini A, Rees MI, Rubboli G, Selmer KK, Striano P, Syvertsen M, Thomas RH, Zarubova J, Richardson MP, Strug LJ, Pal DK. Shakeshaft A, et al. Among authors: panjwani n. Sci Rep. 2022 Feb 21;12(1):2785. doi: 10.1038/s41598-022-06324-2. Sci Rep. 2022. PMID: 35190554 Free PMC article.
Variation in prognosis and treatment outcome in juvenile myoclonic epilepsy: a Biology of Juvenile Myoclonic Epilepsy Consortium proposal for a practical definition and stratified medicine classifications.
Rubboli G, Beier CP, Selmer KK, Syvertsen M, Shakeshaft A, Collingwood A, Hall A, Andrade DM, Fong CY, Gesche J, Greenberg DA, Hamandi K, Lim KS, Ng CC, Orsini A; BIOJUME Consortium; Striano P, Thomas RH, Zarubova J, Richardson MP, Strug LJ, Pal DK. Rubboli G, et al. Brain Commun. 2023 Jun 9;5(3):fcad182. doi: 10.1093/braincomms/fcad182. eCollection 2023. Brain Commun. 2023. PMID: 37361715 Free PMC article. Review.
Improving imputation in disease-relevant regions: lessons from cystic fibrosis.
Panjwani N, Xiao B, Xu L, Gong J, Keenan K, Lin F, He G, Baskurt Z, Kim S, Zhang L, Esmaeili M, Blackman S, Scherer SW, Corvol H, Drumm M, Knowles M, Cutting G, Rommens JM, Sun L, Strug LJ. Panjwani N, et al. NPJ Genom Med. 2018 Mar 20;3:8. doi: 10.1038/s41525-018-0047-6. eCollection 2018. NPJ Genom Med. 2018. PMID: 29581887 Free PMC article.
Recent advances in developing therapeutics for cystic fibrosis.
Strug LJ, Stephenson AL, Panjwani N, Harris A. Strug LJ, et al. Among authors: panjwani n. Hum Mol Genet. 2018 Aug 1;27(R2):R173-R186. doi: 10.1093/hmg/ddy188. Hum Mol Genet. 2018. PMID: 30060192 Free PMC article. Review.
Genetic evidence supports the development of SLC26A9 targeting therapies for the treatment of lung disease.
Gong J, He G, Wang C, Bartlett C, Panjwani N, Mastromatteo S, Lin F, Keenan K, Avolio J, Halevy A, Shaw M, Esmaeili M, Côté-Maurais G, Adam D, Bégin S, Bjornson C, Chilvers M, Reisman J, Price A, Parkins M, van Wylick R, Berthiaume Y, Bilodeau L, Mateos-Corral D, Hughes D, Smith MJ, Morrison N, Brusky J, Tullis E, Stephenson AL, Quon BS, Wilcox P, Leung WM, Solomon M, Sun L, Brochiero E, Moraes TJ, Gonska T, Ratjen F, Rommens JM, Strug LJ. Gong J, et al. Among authors: panjwani n. NPJ Genom Med. 2022 Apr 8;7(1):28. doi: 10.1038/s41525-022-00299-9. NPJ Genom Med. 2022. PMID: 35396391 Free PMC article.
137 results