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: Pedro M. Rodríguez Cruz, Jacqueline Palace, David Beeson

المصدر: International Journal of Molecular Sciences; Volume 19; Issue 6; Pages: 1677

مصطلحات موضوعية: congenital myasthenic syndromes, neuromuscular junction, neuromuscular transmission, presynaptic CMS, COL13A1, SNARE complex, N -glycosylation pathway, GMPPB, β2-adrenergic agonists

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms19061677

الاتاحة: https://doi.org/10.3390/ijms19061677

المؤلفون: Rodríguez Cruz, P, Palace, J, Beeson, D

المصدر: International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 19, Iss 6, p 1677 (2018)

مصطلحات موضوعية: Myasthenic Syndromes, Congenital, neuromuscular transmission, COL13A1, neuromuscular junction, β2-adrenergic agonists, GMPPB, Review, Synaptic Transmission, Acetylcholine, lcsh:Chemistry, SNARE complex, Genetic Heterogeneity, Phenotype, lcsh:Biology (General), lcsh:QD1-999, health services administration, Mutation, presynaptic CMS, congenital myasthenic syndromes, N-glycosylation pathway, Humans, Receptors, Cholinergic, lcsh:QH301-705.5, health care economics and organizations

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::f626c6ced8964524d19dfd2ffb9c491e
https://ora.ox.ac.uk/objects/uuid:b3a2e10f-652e-4d36-b4e4-a584a652aa1e

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 JM, 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, Lochmüller, Hanns, Gleeson, Joseph, Houlden, Henry, Haack, Tobias B, Horvath, Rita, Bönnemann, Carsten G

مصطلحات موضوعية: neuromuscular junction, SYT2, congenital myasthenic syndrome, presynaptic CMS, synaptotagmins, 3. Good health

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f3416f44835fdeba3d89ab6f234e1f98