المؤلفون: Meyer, Alayne

مصطلحات موضوعية: Genetics, Neurology, Neurosciences, myotonia, myotonic, myotonia congenita, paramyotonia, myotonic dystrophy, genotype-phenotype

الاتاحة: http://rave.ohiolink.edu/etdc/view?acc_num=osu155506792600104

المؤلفون: Lowes, Linda P., Reash, Natalie F., Iammarino, Megan A., Connolly, Anne M., Pietruszewski, Lindsay, Smith, Melissa A., Peng, Jing, Steiner, Christopher L., Tsao, Chang-Yong, Waldrop, Megan A., Flanigan, Kevin M., Chagat, Shannon, Meyer, Alayne P., Mendell, Jerry R., Alfano, Lindsay N.

المصدر: Journal of Neuromuscular Diseases ; ISSN 2214-3599 2214-3602

الاتاحة: https://doi.org/10.1177/22143602241289223
https://journals.sagepub.com/doi/pdf/10.1177/22143602241289223
https://journals.sagepub.com/doi/full-xml/10.1177/22143602241289223

المؤلفون: Meyer, Alayne P, Barnett, Cara L, Myers, Katherine, Siskind, Carly E, Moscarello, Tia, Logan, Rachel, Roggenbuck, Jennifer, Rich, Kelly A

مصطلحات موضوعية: Genotype-phenotype correlations

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/61/4/356; http://dx.doi.org/10.1136/jmg-2023-109513

الاتاحة: http://jmg.bmj.com/cgi/content/short/61/4/356
https://doi.org/10.1136/jmg-2023-109513

المؤلفون: Meyer, Alayne P, Connolly, Anne M, Vannatta, Kathryn, Hacker, Natasha, Hatfield, Andrea, Decipeda, Abigail, Parker, Patricia, Willoughby, Ava, Waldrop, Megan A

المصدر: J Neuromuscul Dis ; ISSN:2214-3602 ; Volume:11 ; Issue:1

مصطلحات موضوعية: Onasemnogene abeparvovec-xioi, Spinal muscular atrophy, genetic therapy, neonatal screening

Relation: https://doi.org/10.3233/JND-230082; https://pubmed.ncbi.nlm.nih.gov/38160362; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10789343/

الاتاحة: https://doi.org/10.3233/JND-230082
https://pubmed.ncbi.nlm.nih.gov/38160362
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10789343/

المؤلفون: Waldrop, Megan A, Chagat, Shannon, Storey, Michael, Meyer, Alayne, Iammarino, Megan, Reash, Natalie, Alfano, Lindsay, Lowes, Linda, Noritz, Garey, Prochoroff, Andre, Rossman, Ian, Ginsberg, Matthew, Mosher, Kathryn, Broomall, Eileen, Bass, Nancy, Gushue, Courtney, Kotha, Kavitha, Paul, Grace, Shell, Richard, Tsao, Chang-Yong, Mendell, Jerry R, Connolly, Anne M

المصدر: Neuromuscul Disord ; ISSN:1873-2364 ; Volume:34

مصطلحات موضوعية: Gene therapy, Onasemnogene abeparvovec, Spinal muscular atrophy

Relation: https://doi.org/10.1016/j.nmd.2023.11.010; https://pubmed.ncbi.nlm.nih.gov/38142474

الاتاحة: https://doi.org/10.1016/j.nmd.2023.11.010
https://pubmed.ncbi.nlm.nih.gov/38142474

المؤلفون: Meyer, Alayne P., Barnett, Cara L., Myers, Katherine, Siskind, Carly E., Moscarello, Tia, Logan, Rachel, Roggenbuck, Jennifer, Rich, Kelly A.

المصدر: Journal of Medical Genetics; Apr2024, Vol. 61 Issue 4, p356-362, 18p

المؤلفون: Winter, Jonathan De, Vondel, Liedewei van De, Bonne, Gisèle, Stojkovic, Tanya, Elouej, Sahar, Grandi, F., Smeriglio, P., Palmio, Johanna, Johari, Mridul, Hackman, P., Savarese, M., Udd, Bjarne, Meyer, Alayne P., Kevin, S. Nicolau, Flanigan, Kevin M., Waldrop, Megan, Lognman, C., Diaz-Manera, J., Töpf, Ana, Baets, Jonathan

المساهمون: Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Tampere University Hospital, Folkhälsan Research Center, Faculty of Medecine Helsinki, Helsingin yliopisto = Helsingfors universitet = University of Helsinki-Helsingin yliopisto = Helsingfors universitet = University of Helsinki, Helsingin yliopisto = Helsingfors universitet = University of Helsinki, Neuromuscular Research Center, Department of Neurology, University Hospital and University of Tampe, Nationwide Children's Hospital, The Ohio State University Press, Newcastle University Newcastle, Flanders Institute for Biotechnology, Antwerp University Hospital Edegem (UZA)

المصدر: Solve-RD, Solving the unsolved Rare Diseases, Final Meeting 2023 ; https://hal.science/hal-04086227 ; Solve-RD, Solving the unsolved Rare Diseases, Final Meeting 2023, Apr 2023, Prague, Czech Republic

مصطلحات موضوعية: errance diagnotique, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

جغرافية الموضوع: Prague, Czech Republic

Relation: hal-04086227; https://hal.science/hal-04086227

الاتاحة: https://hal.science/hal-04086227

المؤلفون: Meyer, Alayne P., Roggenbuck, Jennifer, LoRusso, Samantha, Kissel, John, Smith, Rachel M., Kline, David, Arnold, W. David

المصدر: Frontiers in Neurology ; volume 11 ; ISSN 1664-2295

الاتاحة: http://dx.doi.org/10.3389/fneur.2020.00593
https://www.frontiersin.org/article/10.3389/fneur.2020.00593/full

المؤلفون: Meyer, Alayne P.^1,2 (AUTHOR) alayne.meyer@nationwidechildrens.org, Ma, Jianing³ (AUTHOR), Brock, Guy³ (AUTHOR), Hashimoto, Sayaka⁴ (AUTHOR), Cottrell, Catherine E.^2,4,5 (AUTHOR), Mathew, Mariam^2,4,5 (AUTHOR), Hunter, Jesse M.^2,4,5 (AUTHOR), Leung, Marco L.^2,4,5 (AUTHOR), Corsmeier, Don⁴ (AUTHOR), Jayaraman, Vijayakumar⁴ (AUTHOR), Waldrop, Megan A.^2,6,7 (AUTHOR), Flanigan, Kevin M.^2,6,7 (AUTHOR)

المصدر: Muscle & Nerve. Dec2023, Vol. 68 Issue 6, p833-840. 8p.

المؤلفون: Forrest, Megan E., Meyer, Alayne P., Figueroa, Stephanie M. Laureano, Antonellis, Anthony

المصدر: Cold Spring Harbor Molecular Case Studies; Dec2022, Vol. 8 Issue 7, p1-11, 11p

مصطلحات موضوعية: MOTOR neuron diseases, AMINOACYL-tRNA synthetases, PROTEIN synthesis, HETEROZYGOSITY, MUSCLE weakness

المؤلفون: Meyer, Alayne P., Forrest, Megan E., Nicolau, Stefan, Wiszniewski, Wojciech, Bland, Mary Pat, Tsao, Chang‐Yong, Antonellis, Anthony, Abreu, Nicolas J.

المصدر: Human Mutation; Jul2022, Vol. 43 Issue 7, p869-876, 8p

المؤلفون: Meyer, Alayne, LoRusso, Samantha, Roggenbuck, Jennifer, Arnold, William

المصدر: Neurology ; volume 92, issue 15_supplement ; ISSN 0028-3878 1526-632X

الاتاحة: http://dx.doi.org/10.1212/wnl.92.15_supplement.s23.007