المؤلفون: Jeffries, L., Mis, E. K., McWalter, K., Donkervoort, S., Brodsky, N. N., Carpier, J. M., Ji, W., Ionita, C., Roy, B., Morrow, J. S., Darbinyan, A., Iyer, K., Aul, R. B., Banka, S., Chao, K. R., Cobbold, L., Cohen, S., Custodio, H. M., Drummond-Borg, M., Elmslie, F., Finanger, E., Hainline, B. E., Helbig, I., Hewson, S., Hu, Y., Jackson, A., Josifova, D., Konstantino, M., Leach, M. E., Mak, B., McCormick, D., McGee, E., Nelson, S., Nguyen, J., Nugent, K., Ortega, L., Goodkin, H. P., Roeder, E., Roy, S., Sapp, K., Saade, D., Sisodiya, S. M., Stals, K., Towner, S., Wilson, W., Khokha, M. K., Bönnemann, C. G., Lucas, C. L., Lakhani, S. A.

مصطلحات موضوعية: Creld1, developmental delay, epilepsy, hypotonia

Relation: https://linkinghub.elsevier.com/retrieve/pii/S1098-3600(23)01039-0; Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, et al. Biallelic CRELD1 variants cause a multisystem syndrome including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections. Genetics in medicine : official journal of the American College of Medical Genetics. 2023:101023.; Genetics in medicine; https://hdl.handle.net/11287/623073

الاتاحة: https://hdl.handle.net/11287/623073
https://doi.org/10.1016/j.gim.2023.101023

المؤلفون: Bryen, S. J., Ewans, L. J., Pinner, J., MacLennan, S. C., Donkervoort, S., Castro, D., Töpf, A., O'Grady, G., Cummings, B., Chao, K. R., Weisburd, B., Francioli, L., Faiz, F., Bournazos, A. M., Hu, Y., Grosmann, C., Malicki, D. M., Doyle, H., Witting, N., Vissing, J., Claeys, K. G., Urankar, K., Beleza-Meireles, A., Baptista, J., Ellard, S., Savarese, M., Johari, M., Vihola, A., Udd, B., Majumdar, A., Straub, V., Bönnemann, C. G., MacArthur, D. G., Davis, M. R., Cooper, S. T.

مصطلحات موضوعية: Alternative Splicing, Arthrogryposis/*diagnosis/*genetics, Child, Preschool, Connectin/*genetics, Female, Genes, Recessive, Genetic Association Studies, Genetic Predisposition to Disease, Humans, Infant, Male, Muscular Diseases/*diagnosis/*genetics, Mutation, Pedigree, Phenotype, Radiography, TTN metatranscript-only, arthrogryposis, congenital titinopathies, intronic splice variant

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/31660661/; Bryen, S. J., Ewans, L. J., Pinner, J., MacLennan, S. C., Donkervoort, S., Castro, D., Töpf, A., O'Grady, G., Cummings, B., Chao, K. R., Weisburd, B., Francioli, L., Faiz, F., Bournazos, A. M., Hu, Y., Grosmann, C., Malicki, D. M., Doyle, H., Witting, N., Vissing, J., Claeys, K. G., Urankar, K., Beleza-Meireles, A., Baptista, J., Ellard, S., Savarese, M., Johari, M., Vihola, A., Udd, B., Majumdar, A., Straub, V., Bönnemann, C. G., MacArthur, D. G., Davis, M. R. and Cooper, S. T. (2020) 'Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy', Human Mutation, 41(2), pp. 403-411.; Human Mutation; PMC7306402; https://hdl.handle.net/11287/621948

الاتاحة: https://hdl.handle.net/11287/621948
https://doi.org/10.1002/humu.23938

المؤلفون: Bullivant, J., Porter, B., Murphy, L., Render, L., Bellgard, M., Lennox, A., Spring, M., Hollander, A., Bönnemann, C., Jungbluth, H., Buj-Bello, A., Dowling, J., Marini-Bettolo, C.

المصدر: Neuromuscular Disorders ; volume 31, page S57 ; ISSN 0960-8966

الاتاحة: http://dx.doi.org/10.1016/j.nmd.2021.07.050
https://api.elsevier.com/content/article/PII:S0960896621002376?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0960896621002376?httpAccept=text/plain

المؤلفون: Syeda, S., Mohammed, M., Foley, A., Donkervoort, S., Saade, D., Neuhaus, S., Mohassel, P., Bharucha-Goebel, D., Leach, M., Fink, M., Dastgir, J., Bönnemann, C.

المصدر: Neuromuscular Disorders ; volume 31, page S67 ; ISSN 0960-8966

الاتاحة: http://dx.doi.org/10.1016/j.nmd.2021.07.085
https://api.elsevier.com/content/article/PII:S0960896621002728?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0960896621002728?httpAccept=text/plain

المؤلفون: Servián-Morilla, E, Cabrera-Serrano, M, Johnson, K, Pandey, A, Ito, A, Rivas, E, Chamova, T, Muelas, N, Mongini, T, Nafissi, S, Claeys, K G, Grewal, R P, Takeuchi, M, Hao, H, Bönnemann, C, Lopes Abath Neto, O, Medne, L, Brandsema, J, Töpf, A, Taneva, A, Vilchez, J J, Tournev, I, Haltiwanger, R S, Takeuchi, H, Jafar-Nejad, H, Straub, V, Paradas, Carmen

مصطلحات موضوعية: Muscle dystrophy, Notch, POGLUT1, Satellite cells, α-Dystroglycan, Animals, Genetically Modified, Drosophila melanogaster, Dystroglycans, Female, Genetic Association Studies, Glucosyltransferases, Glycosylation, Humans, Male, Muscle, Skeletal, Muscular Dystrophies, Limb-Girdle, Mutation, Pedigree, Skeletal Muscle

Relation: http://hdl.handle.net/10668/14912; PMC7196238; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7196238; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7196238/pdf

الاتاحة: http://hdl.handle.net/10668/14912
https://doi.org/10.1007/s00401-019-02117-6
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7196238
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7196238/pdf

المؤلفون: Estañ, M., Fernández-Núñez, E., Zaki, M., Esteban, M., Donkervoort, S., Hawkins, C., Caparros-Martin, Jose, Saade, D., Hu, Y., Bolduc, V., Chao, K., Nevado, J., Lamuedra, A., Largo, R., Herrero-Beaumont, G., Regadera, J., Hernandez-Chico, C., Tizzano, E., Martinez-Glez, V., Carvajal, J., Zong, R., Nelson, D., Otaify, G., Temtamy, S., Aglan, M., Issa, M., Bönnemann, C., Lapunzina, P., Yoon, G., Ruiz-Perez, V.

وصف الملف: fulltext

Relation: http://hdl.handle.net/20.500.11937/74797

الاتاحة: https://hdl.handle.net/20.500.11937/74797
https://doi.org/10.1038/s41467-019-08548-9

المؤلفون: Donkervoort, S., Sabouny, R., Yun, P., Gauquelin, L., Chao, K. R., Hu, Y., Al Khatib, I., Töpf, A., Mohassel, P., Cummings, B. B., Kaur, R., Saade, D., Moore, S. A., Waddell, L. B., Farrar, M. A., Goodrich, J. K., Uapinyoying, P., Chan, S.H. S., Javed, A., Leach, M. E., Karachunski, P., Dalton, J., Medne, L., Harper, A., Thompson, C., Thiffault, I., Specht, S., Lamont, R. E., Saunders, C., Racher, H., Bernier, F. P., Mowat, D., Witting, N., Vissing, J., Hanson, R., Coffman, K. A., Hainlen, M., Parboosingh, J. S., Carnevale, A., Yoon, G., Schnur, R. E., Boycott, K. M., Mah, J. K., Straub, V., Foley, A. Reghan, Innes, A. M., Bönnemann, C. G., Shutt, T. E.

المساهمون: Alberta Children's Hospital Research Institute, Alberta Children’s Hospital Foundation, NINDS, NHGRI, NIH Deputy Director for Intramural Research, NIH Clinical Center, Broad Center for Mendelian Genomics, National Heart, Lung and Blood Institute, National Eye Institute, Genome Canada, Ontario Genomics Institute, Canadian Institutes of Health Research, Ontario Research Fund, Genome Alberta, Genome British Columbia, Genome Quebec, owa Wellstone Muscular Dystrophy Cooperative Research Center, Children's Hospital of Eastern Ontario Foundation, Queen Elizabeth II Graduate Scholarship, Alberta Children’s Hospital Research Institute Graduate Studentship, Natural Sciences and Engineering Research Council of Canada

المصدر: Acta Neuropathologica ; volume 138, issue 6, page 1013-1031 ; ISSN 0001-6322 1432-0533

الاتاحة: http://dx.doi.org/10.1007/s00401-019-02059-z
http://link.springer.com/content/pdf/10.1007/s00401-019-02059-z.pdf
http://link.springer.com/article/10.1007/s00401-019-02059-z/fulltext.html

المؤلفون: Mohassel, P., Hearn, H., Zou, Y., Rooney, J., Bönnemann, C.

المصدر: Neuromuscular Disorders ; volume 33, page S158-S159 ; ISSN 0960-8966

الاتاحة: http://dx.doi.org/10.1016/j.nmd.2023.07.366
https://api.elsevier.com/content/article/PII:S0960896623005461?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0960896623005461?httpAccept=text/plain

المؤلفون: Bach, R Or, Syeda, S., Mohassel, P., Dohrn, M., Lone, M., Donkervoort, S., Foley, A., Beijer, D., Bayraktar, E., Oflazer, P., Munot, P., Rose, A., Lyons, M., Muntoni, F., Başak, A., Dunn, T., Tornemann, H., Süchner, Z., Bönnemann, C.

المصدر: Neuromuscular Disorders ; volume 33, page S107 ; ISSN 0960-8966

الاتاحة: http://dx.doi.org/10.1016/j.nmd.2023.07.169
https://api.elsevier.com/content/article/PII:S0960896623003498?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0960896623003498?httpAccept=text/plain

المؤلفون: Haliloğlu, G., Donkervoort, S., Öz Yıldız, S., Hu, Y., Pais, L., Koşukcu, C., Aydıngöz, Ü, Bönnemann, C.

المصدر: Neuromuscular Disorders ; volume 33, page S76 ; ISSN 0960-8966

الاتاحة: http://dx.doi.org/10.1016/j.nmd.2023.07.051
https://api.elsevier.com/content/article/PII:S0960896623002316?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0960896623002316?httpAccept=text/plain

المؤلفون: Foley, A., Maio, N., Todd, J., Huryn, L., Saade, D., Neuhaus, S., Donkervoort, S., Hufnagel, R., Stasheff, S., Orbach, R., Gurgel-Giannetti, J., Gropman, A., Rouault, T., Bönnemann, C.

المصدر: Neuromuscular Disorders ; volume 33, page S133 ; ISSN 0960-8966

الاتاحة: http://dx.doi.org/10.1016/j.nmd.2023.07.268
https://api.elsevier.com/content/article/PII:S0960896623004480?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0960896623004480?httpAccept=text/plain

المؤلفون: Bharucha-Goebel, D., Saade, D., Todd, J., Lehky, T., Norato, G., Armao, D., Bouldin, T., Averion, G., Hu, Y., Mohassel, P., Donkervoort, S., Corse, A., Foley, A., DeLong, T., Acquaye, N., Hinkley, L., Mendoza, C., Hoke, A., Gray, S., Bönnemann, C.

المصدر: Neuromuscular Disorders ; volume 33, page S189-S190 ; ISSN 0960-8966

الاتاحة: http://dx.doi.org/10.1016/j.nmd.2023.07.483
https://api.elsevier.com/content/article/PII:S0960896623006636?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0960896623006636?httpAccept=text/plain

المؤلفون: Gorokhova, S., Schessl, J., Zou, Y., Yang, M., Heydemann, P., Sufit, R., Meilleur, K., Donkervoort, S., Medne, L., Finkel, R., Bönnemann, C.

المصدر: Neuromuscular Disorders ; volume 33, page S173-S174 ; ISSN 0960-8966

الاتاحة: http://dx.doi.org/10.1016/j.nmd.2023.07.422
https://api.elsevier.com/content/article/PII:S0960896623006028?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0960896623006028?httpAccept=text/plain

المؤلفون: Foley, A., Donkervoort, S., Bharucha-Goebel, D., Saade, D., Flynn, L., Grunseich, C., Hu, Y., Bruels, C., Littel, H., Estrella, E., Krishnamoorthy, K., Chao, K., Pais, L., Kunkel, L., Kang, P., Bönnemann, C.

المصدر: Neuromuscular Disorders ; volume 33, page S114 ; ISSN 0960-8966

الاتاحة: http://dx.doi.org/10.1016/j.nmd.2023.07.195
https://api.elsevier.com/content/article/PII:S0960896623003759?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0960896623003759?httpAccept=text/plain

المؤلفون: Bach, R Or, Bulea, T., Donkervoort, S., Foley, A., van de Locht, M., McLean, C., de Winter, J., Conijn, S., Gravunder, A., Hu, Y., DeLong, T., Laing, N., Davis, M., McModie, S., Ravenscroft, G., Ottenheijm, C., Bönnemann, C.

المصدر: Neuromuscular Disorders ; volume 33, page S124-S125 ; ISSN 0960-8966

الاتاحة: http://dx.doi.org/10.1016/j.nmd.2023.07.235
https://api.elsevier.com/content/article/PII:S0960896623004157?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0960896623004157?httpAccept=text/plain

المؤلفون: Donkervoort, S., Zaharieva, I., Essid, M., Longman, C., Foley, A., Horrocks, I., Benrhouma, H., Farrugia, M., Neuhaus, S., Younes, T., Youssef-Turki, I., Jamshidi, Y., Chao, K., Houlden, H., Maroofian, R., Bönnemann, C., Muntoni, F., Sarkozy, A.

المصدر: Neuromuscular Disorders ; volume 33, page S126-S127 ; ISSN 0960-8966

الاتاحة: http://dx.doi.org/10.1016/j.nmd.2023.07.243
https://api.elsevier.com/content/article/PII:S0960896623004236?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0960896623004236?httpAccept=text/plain

المؤلفون: Lawal, T., Riekhof, W., Groom, L., Varma, P., Chrismer, I., Kokkinis, A., Grunseich, C., Witherspoon, J., Razaqyar, M., Meilleur, K., Bönnemann, C., Xiang, L., Euro, L., Jansson, S., Mohassel, P., Dirksen, R., Todd, J.

المصدر: Neuromuscular Disorders ; volume 33, page S128 ; ISSN 0960-8966

الاتاحة: http://dx.doi.org/10.1016/j.nmd.2023.07.247
https://api.elsevier.com/content/article/PII:S0960896623004273?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0960896623004273?httpAccept=text/plain

المؤلفون: Meier, Thomas, Rummey, Christian, Leinonen, Mika, Spagnolo, Paolo, Mayer, Oscar H., Buyse, Gunnar M., Bernert, G., Knipp, F., Buyse, G.M., Goemans, N., Van den Hauwe, M., Voit, T., Doppler, V., Gidaro, T., Cuisset, J.-M., Coopman, S., Schara, U., Lutz, S., Kirschner, J., Borell, S., Will, M., D'Angelo, M.G., Brighina, E., Gandossini, S., Gorni, K., Falcier, E., Politano, L., D'Ambrosio, P., Taglia, A., Verschuuren, J.J.G.M., Straathof, C.S.M., Vílchez Padilla, J.J., Muelas Gómez, N., Sejersen, T., Hovmöller, M., Jeannet, P.-Y., Bloetzer, C., Iannaccone, S., Castro, D., Tennekoon, G., Finkel, R., Bönnemann, C., McDonald, C., Henricson, E., Joyce, N., Apkon, S., Richardson, R.C.

المساهمون: Santhera Pharmaceuticals

المصدر: Neuromuscular Disorders ; volume 27, issue 4, page 307-314 ; ISSN 0960-8966

الاتاحة: http://dx.doi.org/10.1016/j.nmd.2016.12.014
https://api.elsevier.com/content/article/PII:S0960896616309312?httpAccept=text/plain
https://api.elsevier.com/content/article/PII:S0960896616309312?httpAccept=text/xml

المؤلفون: Leach, M, Donkervoort, S, Chan, HSS, Bradley, N, Foley, A, Nguyen, D, Hu, Y, Bönnemann, C, Moore, S, Nance, J, Reyes, C, Thangarajh, M

Relation: Neuromuscular Disorders; The 20th International Annual Congress of the World Muscle Society (WMS 2015), Brighton, UK., 30 September-4 October 2015. In Neuromuscular Disorders, 2015, v. 25 suppl. 2, p. S286-S287, abstract no. G.P.336; S287; 269359; suppl. 2; S286, abstract no. G.P.336; http://hdl.handle.net/10722/235187; 25

الاتاحة: https://doi.org/10.1016/j.nmd.2015.06.360
http://hdl.handle.net/10722/235187

المؤلفون: Papadaki, M, Marston, S, Memo, M, Messer, A, Donkervoort, S, Boennemann, C, Nowak, K, Ong, R, McNamara, E

المساهمون: British Heart Foundation

المصدر: 20th International Congress of the World-Muscle-Society ; S286

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Clinical Neurology, Neurosciences, Neurosciences & Neurology, Neurology & Neurosurgery, 1103 Clinical Sciences, 1109 Neurosciences, 1116 Medical Physiology

جغرافية الموضوع: Brighton, England

Time: Brighton, England

Relation: Neuromuscular Disorders; http://hdl.handle.net/10044/1/33883; https://dx.doi.org/10.1016/j.nmd.2015.06.359; RG/11/20/29266; FS/12/24/29568

الاتاحة: http://hdl.handle.net/10044/1/33883
https://doi.org/10.1016/j.nmd.2015.06.359