المؤلفون: Todd, Joshua J., Lawal, Tokunbor A., Chrismer, Irene C., Kokkinis, Angela, Grunseich, Christopher, Jain, Minal S., Waite, Melissa R., Biancavilla, Victoria, Pocock, Shavonne, Brooks, Kia, Mendoza, Christopher J., Norato, Gina, Cheung, Ken, Riekhof, Willa, Varma, Pooja, Colina-Prisco, Claudia, Emile-Backer, Magalie, Meilleur, Katherine G., Marks, Andrew R., Webb, Yael, Marcantonio, Eugene E., Foley, A. Reghan, Bönnemann, Carsten G., Mohassel, Payam

المصدر: eClinicalMedicine ; volume 68, page 102433 ; ISSN 2589-5370

الاتاحة: http://dx.doi.org/10.1016/j.eclinm.2024.102433
https://api.elsevier.com/content/article/PII:S2589537024000129?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2589537024000129?httpAccept=text/plain

المؤلفون: Foley, A. Reghan, Pomi Yun, Leach, Meganne E., Neuhaus, Sarah B., Averion, Gilberto V., Ying Hu, Hayes, Leslie H., Donkervoort, Sandra, Jain, Minal S., Waite, Melissa, Parks, Rebecca, Bharucha-Goebel, Diana X., Mayer, Oscar H., Yaqun Zou, Fink, Margaret, DeCoster, Jameice, Mendoza, Christopher, Arévalo, Cynthia, Hausmann, Rudolf, Petraki, Diana

المصدر: Neurology: Genetics; Jun2024, Vol. 10 Issue 3, p1-12, 12p

المؤلفون: Amburgey, Kimberly, Acker, Meryl, Saeed, Samia, Amin, Reshma, Beggs, Alan H., Bönnemann, Carsten G., Brudno, Michael, Constantinescu, Andrei, Dastgir, Jahannaz, Diallo, Mamadou, Genetti, Casie A., Glueck, Michael, Hewson, Stacy, Hum, Courtney, Jain, Minal S., Lawlor, Michael W., Meyer, Oscar H., Nelson, Leslie, Sultanum, Nicole, Syed, Faiza, Tran, Tuyen, Wang, Ching H., Dowling, James J.

المصدر: Neurology ; volume 96, issue 10 ; ISSN 0028-3878 1526-632X

الاتاحة: https://doi.org/10.1212/wnl.0000000000011458
https://www.neurology.org/doi/pdfdirect/10.1212/WNL.0000000000011458

المؤلفون: Donkervoort, Sandra, Mohassel, Payam, Laugwitz, Lucia, Zaki, Maha S., Kamsteeg, Erik-Jan, Maroofian, Reza, Chao, Katherine R., Verschuuren-Bemelmans, Corien C., Horber, Veronka, Fock, Annemarie J. M., McCarty, Riley M., Jain, Minal S., Biancavilla, Victoria, McMacken, Grace, Nalls, Matthew, Voermans, Nicol C., Elbendary, Hasnaa M., Snyder, Molly, Cai, Chunyu, Lehky, Tanya J., Stanley, Valentina, Iannaccone, Susan T., Foley, A. Reghan, Lochmueller, Hanns, Gleeson, Joseph, Houlden, Henry, Haack, Tobias B., Horvath, Rita, Bonnemann, Carsten G.

المصدر: Donkervoort , S , Mohassel , P , Laugwitz , L , Zaki , M S , Kamsteeg , E-J , Maroofian , R , Chao , K R , Verschuuren-Bemelmans , C C , Horber , V , Fock , A J M , McCarty , R M , Jain , M S , Biancavilla , V , McMacken , G , Nalls , M , Voermans , N C , Elbendary , H M , Snyder , M , Cai , C , Lehky , T J , Stanley , V , Iannaccone , S T , ....

مصطلحات موضوعية: congenital myasthenic syndrome, neuromuscular junction, presynaptic CMS, synaptotagmins, SYT2, NEUROTRANSMITTER RELEASE, SYNAPTOTAGMIN-I, MESSENGER-RNAS, MUTATIONS, GENE

وصف الملف: application/pdf

Relation: https://research.rug.nl/en/publications/07cd146d-a8e3-4f3c-9772-2e9d8d57907c

الاتاحة: https://hdl.handle.net/11370/07cd146d-a8e3-4f3c-9772-2e9d8d57907c
https://research.rug.nl/en/publications/07cd146d-a8e3-4f3c-9772-2e9d8d57907c
https://doi.org/10.1002/ajmg.a.61765
https://pure.rug.nl/ws/files/132904593/Biallelic_loss_of_function_variants_in_SYT2_cause_a_treatable_congenital_onset_presynaptic_myasthenic_syndrome.pdf

المؤلفون: Todd, Joshua J., Lawal, Tokunbor A., Witherspoon, Jessica W., Chrismer, Irene C., Razaqyar, Muslima S., Punjabi, Monal, Elliott, Jeffrey S., Tounkara, Fatoumata, Kuo, Anna, Shelton, Monique O., Allen, Carolyn, Cosgrove, Mary M., Linton, Melody, Michael, Darren, Jain, Minal S., Waite, Melissa, Drinkard, Bart, Wakim, Paul G., Dowling, James J., Bönnemann, Carsten G., Emile-Backer, Magalie, Meilleur, Katherine G.

المصدر: Neurology ; volume 94, issue 13 ; ISSN 0028-3878 1526-632X

الاتاحة: http://dx.doi.org/10.1212/wnl.0000000000008872
https://www.neurology.org/doi/pdfdirect/10.1212/WNL.0000000000008872

المؤلفون: Witherspoon, Jessica W., Vuillerot, Carole, Vasavada, Ruhi P., Waite, Melissa R., Shelton, Monique, Chrismer, Irene C., Jain, Minal S., Meilleur, Katherine G.

المصدر: Muscle & Nerve ; volume 60, issue 1, page 80-87 ; ISSN 0148-639X 1097-4598

الاتاحة: http://dx.doi.org/10.1002/mus.26491
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mus.26491
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/mus.26491

المؤلفون: Witherspoon, Jessica W., Rekant, Julie S., Wakim, Paul G., Vasavada, Ruhi, Waite, Melissa, Chrismer, Irene, Shelton, Monique O., Jain, Minal S., Meilleur, Katherine G.

المصدر: Frontiers in Neurology ; volume 10 ; ISSN 1664-2295

الاتاحة: http://dx.doi.org/10.3389/fneur.2019.01234
https://www.frontiersin.org/article/10.3389/fneur.2019.01234/full

المؤلفون: Todd, Joshua J., Sagar, Vatsala, Lawal, Tokunbor A., Allen, Carolyn, Razaqyar, Muslima S., Shelton, Monique S., Chrismer, Irene C., Zhang, Xuemin, Cosgrove, Mary M., Kuo, Anna, Vasavada, Ruhi, Jain, Minal S., Waite, Melissa, Rajapakse, Dinusha, Witherspoon, Jessica W., Wistow, Graeme, Meilleur, Katherine G.

المساهمون: National Institute of Nursing Research, NIH Clinical Center

المصدر: Journal of Neurology ; volume 265, issue 11, page 2506-2524 ; ISSN 0340-5354 1432-1459

الاتاحة: http://dx.doi.org/10.1007/s00415-018-9033-2
http://link.springer.com/article/10.1007/s00415-018-9033-2/fulltext.html
http://link.springer.com/content/pdf/10.1007/s00415-018-9033-2.pdf

المؤلفون: Witherspoon, Jessica W., Vasavada, Ruhi P., Waite, Melissa R., Shelton, Monique, Chrismer, Irene C., Wakim, Paul G., Jain, Minal S., Bönnemann, Carsten G., Meilleur, Katherine G.

المساهمون: National Institutes of Health (US) Bench-to-Bedside Award

المصدر: Orphanet Journal of Rare Diseases ; volume 13, issue 1 ; ISSN 1750-1172

الاتاحة: http://dx.doi.org/10.1186/s13023-018-0848-9
http://link.springer.com/content/pdf/10.1186/s13023-018-0848-9.pdf
http://link.springer.com/article/10.1186/s13023-018-0848-9/fulltext.html

المؤلفون: Amburgey, Kimberly, Acker, Meryl, Saeed, Samia, Amin, Reshma, Beggs, Alan H., Bönneman, Carsten G., Brudno, Michael, Constantinescu, Andrei, Dastgir, Johannaz, Diallo, Mamadou, Genetti, Casie A., Glueck, Michael, Hewson, Stacy, Hum, Courtney, Jain, Minal S., Lawlor, Michael W., Mayer, Oscar H., Nelson, Leslie, Sultanum, Nicole, Syed, Faiza, Tran, Tuyen, Wang, Ching H., Dowling, James J.

Relation: https://zenodo.org/communities/dryad; https://doi.org/10.5061/dryad.z08kprrb9; oai:zenodo.org:5774224

الاتاحة: https://doi.org/10.5061/dryad.z08kprrb9

المؤلفون: Lawal, Tokunbor A., Todd, Joshua J., Elliott, Jeffrey S., Linton, Melody M., Andres, Megan, Witherspoon, Jessica W., Collins, John P., Chrismer, Irene C., Tounkara, Fatoumata, Waite, Melissa R., Nichols, Carmel, Bönnemann, Carsten G., Vuillerot, Carole, Bendixen, Roxanna, Jain, Minal S., Meilleur, Katherine G.

المصدر: Journal of Neuroscience Nursing ; volume 52, issue 4, page 172-178 ; ISSN 1945-2810 0888-0395

الاتاحة: http://dx.doi.org/10.1097/jnn.0000000000000519
https://journals.lww.com/10.1097/JNN.0000000000000519

المؤلفون: Jain, Minal S., Meilleur, Katherine, Kim, Eunhee, Norato, Gina, Waite, Melissa, Nelson, Leslie, McGuire, Michelle, Duong, Tina, Keller, Katherine, Lott, Donovan J., Glanzman, Allan, Rose, Kristy, Main, Marion, Fiorini, Courtney, Chrismer, Irene, Linton, Melody, Punjabi, Monal, Elliott, Jeffrey, Tounkara, Fatoumata, Vasavada, Ruhi, Logaraj, Ranjani, Winkert, Jocelyn, Donkervoort, Sandra, Leach, Meganne, Dastgir, Jahannaz, Hynan, Linda, Nichols, Carmel, Hartnett, Elizabeth, Averion, Gilberto M., Collins, James C., Kim, Eunice S., Kokkinis, Angela, Schindler, Alice, Zukosky, Kristen, Fee, Robert, Hinton, Veronica, Mohassel, Payam, Bharucha-Goebel, Diana, Vuillerot, Carole, McGraw, Peter, Barton, Mark, Fontana, Joseph, Rutkowski, Anne, Foley, A. Reghan, Bönnemann, Carsten G.

المصدر: Neurology ; volume 93, issue 21 ; ISSN 0028-3878 1526-632X

الاتاحة: http://dx.doi.org/10.1212/wnl.0000000000008517
https://www.neurology.org/doi/pdfdirect/10.1212/WNL.0000000000008517

المؤلفون: Lawal, Tokunbor A., Patankar, Aneesh, Todd, Joshua J., Razaqyar, Muslima S., Chrismer, Irene C., Xuemin Zhang, Waite, Melissa R., Jain, Minal S., Emile-Backer, Magalie, Witherspoon, Jessica W., Chia-Ying Liu, Grunseich, Christopher, Meilleur, Katherine G.

المصدر: Journal of Neuromuscular Diseases; 2021, Vol. 8 Issue 4, p657-668, 12p

المؤلفون: Todd, Joshua J., Lawal, Tokunbor A., Witherspoon, Jessica W., Chrismer, Irene C., Razaqyar, Muslima S., Punjabi, Monal, Elliott, Jeffrey S., Tounkara, Fatoumata, Kuo, Anna, Shelton, Monique O., Allen, Carolyn, Cosgrove, Mary M., Linton, Melody, Michael, Darren, Jain, Minal S., Waite, Melissa, Drinkard, Bart, Wakim, Paul G., Dowling, James J., Bönnemann, Carsten G.

المصدر: Neurology; 3/31/2020, Vol. 94 Issue 13, pe1434-e1444, 11p

المؤلفون: Nichols, Carmel, Jain, Minal S., Meilleur, Katherine G., Wu, Tianxia, Collins, James, Waite, Melissa R., Dastgir, Jahannaz, Salman, Anam, Donkervoort, Sandra, Duong, Tina, Keller, Katherine, Leach, Meganne E., Lott, Donovan J., McGuire, Michelle N., Nelson, Leslie, Rutkowski, Anne, Vuillerot, Carole, Bönnemann, Carsten G., Lehky, Tanya J.

المساهمون: National Institute of Nursing Research

المصدر: Muscle & Nerve ; volume 57, issue 1, page 54-60 ; ISSN 0148-639X 1097-4598

الاتاحة: http://dx.doi.org/10.1002/mus.25629
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fmus.25629
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mus.25629
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/mus.25629

المؤلفون: Meilleur, Katherine G., Jain, Minal S., Hynan, Linda S., Shieh, Ching-Yi, Kim, Eunice, Waite, Melissa, McGuire, Michelle, Fiorini, Courtney, Glanzman, Allan M., Main, Marion, Rose, Kristy, Duong, Tina, Bendixen, Roxanna, Linton, Melody M., Arveson, Irene C., Nichols, Carmel, Yang, Kelly, Fischbeck, Kenneth H., Wagner, Kathryn R., North, Kathryn, Mankodi, Ami, Grunseich, Christopher, Hartnett, Elizabeth J., Smith, Michaele, Donkervoort, Sandra, Schindler, Alice, Kokkinis, Angela, Leach, Meganne, Foley, A. Reghan, Collins, James, Muntoni, Francesco, Rutkowski, Anne, Bönnemann, Carsten G.

المساهمون: Cure CMD, NIH

المصدر: Neuromuscular Disorders ; volume 25, issue 1, page 43-54 ; ISSN 0960-8966

الاتاحة: http://dx.doi.org/10.1016/j.nmd.2014.09.010
https://api.elsevier.com/content/article/PII:S0960896614006555?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0960896614006555?httpAccept=text/plain

المؤلفون: Meilleur, Katherine G., Jain, Minal S., Bendixen, Roxanna

المصدر: The American Journal of Occupational Therapy ; volume 69, issue Supplement_1, page 6911500182p1-6911500182p1 ; ISSN 0272-9490 1943-7676

الاتاحة: http://dx.doi.org/10.5014/ajot.2015.69s1-rp301b
https://research.aota.org/ajot/article/69/Supplement_1/6911500182p1/8782/Results-From-a-Three-Year-Pilot-Study-of-Clinical

المؤلفون: Kuo, Anna, Todd, Joshua J., Witherspoon, Jessica W., Lawal, Tokunbor A., Elliott, Jeffery, Chrismer, Irene C., Shelton, Monique O., Razaqyar, Muslima S., Jain, Minal S., Vasavada, Ruhi, Waite, Melissa, Drinkard, Bart, Michael, Darren, Richarte, Alicia, Bönnemann, Carsten G., Meilleur, Katherine G.

المصدر: Journal of Neuromuscular Diseases; March 2019, Vol. 6 Issue: 1 p133-141, 9p

المؤلفون: Rider, Lisa G., Koziol, Deloris, Giannini, Edward H., Jain, Minal S., Smith, Michaele R., Whitney‐Mahoney, Kristi, Feldman, Brian M., Wright, Susan J., Lindsley, Carol B., Pachman, Lauren M., Villalba, Maria L., Lovell, Daniel J., Bowyer, Suzanne L., Plotz, Paul H., Miller, Frederick W., Hicks, Jeanne E.

المصدر: Arthritis Care & Research ; volume 62, issue 4, page 465-472 ; ISSN 2151-464X 2151-4658

الاتاحة: http://dx.doi.org/10.1002/acr.20035
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Facr.20035
https://onlinelibrary.wiley.com/doi/full/10.1002/acr.20035

المؤلفون: Rider, Lisa G., Koziol, Deloris, Giannini, Edward H., Jain, Minal S., Smith, Michaele R., Whitney-Mahoney, Kristi, Feldman, Brian M., Wright, Susan J., Lindsley, Carol B., Pachman, Lauren M., Villalba, Maria L., Lovell, Daniel J., Bowyer, Suzanne L., Plotz, Paul H., Miller, Frederick W., Hicks, Jeanne E.

مصطلحات موضوعية: Adult, Male, Observer Variation, Muscle Weakness, Adolescent, Myositis, Reproducibility of Results, Middle Aged, Severity of Illness Index, Article, Dermatomyositis, Polymyositis, Child, Preschool, Humans, Female, Child, Physical Examination

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::bbd7a7554afd81ed9ea0f8b10356d5c6
https://europepmc.org/articles/PMC2924143/