المؤلفون: Worthy, Blythe, Turner, Felicity M., Liu, Wen, Johnson, Cedric, Rae, Nicol C., O’Connor, Brendon, Siu, Alice

المصدر: Australasian Journal of American Studies, 2024 Jul 01. 43(1), 88-118.

URL الوصول: https://www.jstor.org/stable/48787092

المؤلفون: E. C. M. de Laat, S.L.S. Houwen- van Opstal, K. Bouman, J. L. M. van Doorn, D. Cameron, N. van Alfen, A. T. M. Dittrich, E. J. Kamsteeg, H. J. M. Smeets, J. T. Groothuis, C. E. Erasmus, Nicol C. Voermans

المصدر: BMC Neurology, Vol 24, Iss 1, Pp 1-11 (2024)

مصطلحات موضوعية: SELENON, SEPN1, LAMA2, Merosin-deficient congenital muscular dystrophy type 1A (MDC1A), Natural history, Follow-up, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2377

URL الوصول: https://doaj.org/article/e37f4d0091164ff29b157e0a38585486

المؤلفون: Johanna C.W. Deenen, André L.M. Verbeek, Pieter A. van Doorn, Catharina G. Faber, Anneke J. van der Kooi, Nicolette C. Notermans, Jan J.G.M. Verschuuren, Baziel G.M. van Engelen, Nicol C. Voermans

المصدر: Rare, Vol 3, Iss , Pp 100059- (2025)

مصطلحات موضوعية: Neuromuscular disorder, Muscular disease, Epidemiology, Incidence, Geographical distribution, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S295000872500002X; https://doaj.org/toc/2950-0087

URL الوصول: https://doaj.org/article/bf54ff984600479f84c22c36bd357a0a

المؤلفون: Vincenten, Sanne C․C․, Teeselink, Sjan, Mul, Karlien, Heskamp, Linda, Kan, Hermien E․, Heerschap, Arend, Cameron, Donnie, Tasca, Giorgio, Leung, Doris G․, Voermans, Nicol C․, van Engelen, Baziel G․M․, van Alfen, Nens

المساهمون: Princess Beatrix Foundation for Neuromuscular Diseases

المصدر: Neuromuscular Disorders ; volume 47, page 105274 ; ISSN 0960-8966

الاتاحة: https://doi.org/10.1016/j.nmd.2025.105274
https://api.elsevier.com/content/article/PII:S096089662500001X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S096089662500001X?httpAccept=text/plain

المؤلفون: Sherry, L, Bahar, MW, Porta, C, Fox, H, Grehan, K, Nasta, V, Duyvesteyn, HME, De Colibus, L, Marsian, J, Murdoch, I, Ponndorf, D, Kim, S, Shah, S, Carlyle, S, Swanson, JJ, Matthews, S, Nicol, C, Lomonossoff, GP, Macadam, AJ, Fry, EE, Stuart, DI, Stonehouse, NJ, Rowlands, DJ

الاتاحة: https://doi.org/10.1038/s41467-025-56118-z
https://ora.ox.ac.uk/objects/uuid:01c408f7-c9ef-4695-85c1-54504f379dbf

المؤلفون: van Gurp, Jonneke E., Lechner, Rosan L., Micha, Dimitra, Maugeri, Alessandra, Dulfer, Eelco, van Dijk, Fleur S., Keszthelyi, Daniel, Malfatti, Edoardo, Kubo, Akiharu, Voermans, Nicol C., Demirdas, Serwet

المصدر: Clinical and Translational Gastroenterology ; ISSN 2155-384X

الاتاحة: https://doi.org/10.14309/ctg.0000000000000821
https://journals.lww.com/10.14309/ctg.0000000000000821

المؤلفون: Sherry, L., Bahar, M., Porta, C., Fox, H., Grehan, K., Nasta, V., Duyvesteyn, H.M.E., De Colibus, L., Marsian, J., Murdoch, I., Ponndorf, D., Kim, S.-R., Shah, S., Carlyle, S., Swanson, J., Matthews, S., Nicol, C., Lomonossoff, G.P., Macadam, A.J., Fry, E.E., Stuart, D.I., Stonehouse, N., Rowlands, D.

وصف الملف: text

Relation: https://eprints.whiterose.ac.uk/221972/9/s41467-025-56118-z.pdf; Sherry, L., Bahar, M., Porta, C. et al. (20 more authors) (2025) Recombinant expression systems for production of stabilised virus-like particles as next-generation polio vaccines. Nature Communications, 16. 831. ISSN 2041-1723

الاتاحة: https://eprints.whiterose.ac.uk/221972/

المؤلفون: E. C. M. de Laat, S.L.S. Houwen- van Opstal, K. Bouman, J. L. M. van Doorn, D. Cameron, N. van Alfen, A. T. M. Dittrich, E. J. Kamsteeg, H. J. M. Smeets, J. T. Groothuis, C. E. Erasmus, Nicol C. Voermans

المصدر: BMC Neurology, Vol 24, Iss 1, Pp 1-1 (2024)

مصطلحات موضوعية: Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2377

URL الوصول: https://doaj.org/article/d827863b23cd4e2db59507ff2d7da5de

المؤلفون: Riazi, Sheila, Bersselaar, Luuk R.van den, Islander, Gunilla, Heytens, Luc, Snoeck, Marc M.J., Bjorksten, Andrew, Gillies, Robyn, Dranitsaris, George, Hellblom, Anna, Treves, Susan, Kunst, Gudrun, Voermans, Nicol C., Jungbluth, Heinz

المصدر: Neuromuscular Disorders. 32(8):628-634

مصطلحات موضوعية: (Exertional) rhabdomyolysis, Malignant hyperthermia, RYR1, Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik, Medical and Health Sciences, Basic Medicine, Medical Genetics

URL الوصول: https://lup.lub.lu.se/record/a7a7e7ce-4fec-4bcb-9d60-3f034f7cb060
http://dx.doi.org/10.1016/j.nmd.2022.06.003

المؤلفون: Sanne C.C. Vincenten, Karlien Mul, Daniël vanAs, Julia J. Jansen, Linda Heskamp, Arend Heerschap, Baziel G.M. vanEngelen, Nicol C. Voermans

المصدر: Journal of Cachexia, Sarcopenia and Muscle, Vol 14, Iss 4, Pp 1695-1706 (2023)

مصطلحات موضوعية: FSHD, Muscle imaging, MRI, Biomarker, Clinical outcome, Diseases of the musculoskeletal system, RC925-935, Human anatomy, QM1-695

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2190-5991; https://doaj.org/toc/2190-6009

URL الوصول: https://doaj.org/article/9f75fa9bef2e4cbab604efb78a1219d3

المؤلفون: Walaa Karazi, Renata S. Scalco, Mads G. Stemmerik, Nicoline Løkken, Alejandro Lucia, Alfredo Santalla, Andrea Martinuzzi, Marinela Vavla, Gianluigi Reni, Antonio Toscano, Olimpia Musumeci, Carlyn V. Kouwenberg, Pascal Laforêt, Beatriz San Millán, Irene Vieitez, Gabriele Siciliano, Enrico Kühnle, Rebecca Trost, Sabrina Sacconi, Hacer Durmus, Biruta Kierdaszuk, Andrew Wakelin, Antoni L. Andreu, Tomàs Pinós, Ramon Marti, Ros Quinlivan, John Vissing, Nicol C. Voermans, EUROMAC Consortium

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)

مصطلحات موضوعية: McArdle disease, Glycogen storage disease V, Rare diseases, International registry, Health care, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/36d94750141a4f249b7874ba6c6e46e8

المؤلفون: Töpf, Ana, Cox, Dan, Zaharieva, Irina T., Di Leo, Valeria, Sarparanta, Jaakko, Jonson, Per Harald, Sealy, Ian M., Smolnikov, Andrei, White, Richard J., Vihola, Anna, Savarese, Marco, Merteroglu, Munise, Wali, Neha, Laricchia, Kristen M., Venturini, Cristina, Vroling, Bas, Stenton, Sarah L., Cummings, Beryl B., Harris, Elizabeth, Marini-Bettolo, Chiara, Diaz-Manera, Jordi, Henderson, Matt, Barresi, Rita, Duff, Jennifer, England, Eleina M., Patrick, Jane, Al-Husayni, Sundos, Biancalana, Valérie, Beggs, Alan H., Bodi, Istvan, Bommireddipalli, Shobhana, Bönnemann, Carsten G., Cairns, Anita, Chiew, Mei-Ting, Claeys, Kristl G., Cooper, Sandra T., Davis, Mark R., Donkervoort, Sandra, Erasmus, Corrie E., Fassad, Mahmoud R., Genetti, Casie A., Grosmann, Carla, Jungbluth, Heinz, Kamsteeg, Erik-Jan, Lornage, Xavière, Löscher, Wolfgang N., Malfatti, Edoardo, Manzur, Adnan, Martí, Pilar, Mongini, Tiziana E., Muelas, Nuria, Nishikawa, Atsuko, O’donnell-Luria, Anne, Ogonuki, Narumi, O’grady, Gina L., O’heir, Emily, Paquay, Stéphanie, Phadke, Rahul, Pletcher, Beth A., Romero, Norma B., Schouten, Meyke, Shah, Snehal, Smuts, Izelle, Sznajer, Yves, Tasca, Giorgio, Taylor, Robert W., Tuite, Allysa, van den Bergh, Peter, Vannoy, Grace, Voermans, Nicol C., Wanschitz, Julia V., Wraige, Elizabeth, Yoshimura, Kimihiko, Oates, Emily C., Nakagawa, Osamu, Nishino, Ichizo, Laporte, Jocelyn, Vilchez, Juan J., Macarthur, Daniel G., Sarkozy, Anna, Cordell, Heather J., Udd, Bjarne, Busch-Nentwich, Elisabeth M., Muntoni, Francesco, Straub, Volker

المساهمون: Newcastle University Newcastle, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), ANR-10-LABX-0030,INRT,Integrative Biology : Nuclear dynamics- Regenerative medicine - Translational medicine(2010), ANR-10-INBS-0009,France Génomique,Organisation et montée en puissance d'une Infrastructure Nationale de Génomique(2010), ANR-10-IDEX-0002,UNISTRA,Par-delà les frontières, l'Université de Strasbourg(2010), European Project: 305121,EC:FP7:HEALTH,FP7-HEALTH-2012-INNOVATION-1,NEUROMICS(2012), European Project: 779257,Solve-RD

المصدر: ISSN: 1061-4036.

مصطلحات موضوعية: [SDV.GEN]Life Sciences [q-bio]/Genetics

Relation: info:eu-repo/grantAgreement/EC/FP7/305121/EU/Integrated European –omics research project for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases/NEUROMICS; info:eu-repo/grantAgreement//779257/EU/European Union's Horizon 2020 research and innovation program/Solve-RD

الاتاحة: https://hal.science/hal-04699537
https://hal.science/hal-04699537v1/document
https://hal.science/hal-04699537v1/file/islandora_171817.pdf
https://doi.org/10.1038/s41588-023-01651-0

المؤلفون: Deenen, Johanna C.W., Horlings, Corinne G.C., Voermans, Nicol C., van Doorn, Pieter A., Faber, Catharina G., van der Kooi, Anneke J., Kuks, Jan B.M., Notermans, Nicolette C., Visser, Leo H., Broekgaarden, Ria H.A., Horemans, Anja M.C., Verschuuren, Jan J.G.M., Verbeek, André L.M., van Engelen, Baziel G.M.

المصدر: Deenen , J C W , Horlings , C G C , Voermans , N C , van Doorn , P A , Faber , C G , van der Kooi , A J , Kuks , J B M , Notermans , N C , Visser , L H , Broekgaarden , R H A , Horemans , A M C , Verschuuren , J J G M , Verbeek , A L M & van Engelen , B G M 2024 , ' Population-based incidence rates of 15 neuromuscular disorders : a nationwide capture-recapture study in the ....

مصطلحات موضوعية: Epidemiology, Incidence, Muscular disease, Myopathy, Neuromuscular disorder

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/1c7c8b98-0e58-4958-9406-b370424c0d30
https://research.rug.nl/en/publications/1c7c8b98-0e58-4958-9406-b370424c0d30
https://doi.org/10.1016/j.nmd.2024.07.006
https://pure.rug.nl/ws/files/1135460835/Population-based_incidence_rates_of_15_neuromuscular_disorders-_a_nationwide_capture-recapture_study_in_the_Netherlands.pdf
http://www.scopus.com/inward/record.url?scp=85200641514&partnerID=8YFLogxK

المؤلفون: van Kleef, Esmee S.B., van de Camp, Sanne A.J.H., Groothuis, Jan T., Erasmus, Corrie E., Gaytant, Michael A., Vosse, Bettine A.H., de Weerd, Willemien, Verschuuren-Bemelmans, Corien C., Medici-Van den Herik, Evita G., Wallgren-Pettersson, Carina, Küsters, Benno, Schouten, Meyke, van Engelen, Baziel G.M., Ottenheijm, Coen A.C., Doorduin, Jonne, Voermans, Nicol C.

المصدر: van Kleef , E S B , van de Camp , S A J H , Groothuis , J T , Erasmus , C E , Gaytant , M A , Vosse , B A H , de Weerd , W , Verschuuren-Bemelmans , C C , Medici-Van den Herik , E G , Wallgren-Pettersson , C , Küsters , B , Schouten , M , van Engelen , B G M , Ottenheijm , C A C , Doorduin , J & Voermans , N C 2024 , ' A cross-sectional study in 18 patients with typical and ....

مصطلحات موضوعية: Cohort, Mild form, Nemaline myopathy, Trial readiness, Typical form

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/05ee99a5-f7db-48c5-9bba-bd8c0290695c
https://research.rug.nl/en/publications/05ee99a5-f7db-48c5-9bba-bd8c0290695c
https://doi.org/10.1016/j.nmd.2024.08.001
https://pure.rug.nl/ws/files/1140546058/1-s2.0-S0960896624009118-main.pdf
http://www.scopus.com/inward/record.url?scp=85201773267&partnerID=8YFLogxK

المؤلفون: van Haaren - Pater, Ronne, Karazi, Walaa, Maas, Daphne, Bloemen, Bart, Voet, Nicoline, van Oorsouw, Roel, Quinlivan, Ros, Bhai, Salman, Wakelin, Andrew, Reason, Stacey, Groothuis, Jan T., Cup, Edith, Voermans, Nicol C.

المصدر: Disability and Rehabilitation ; page 1-8 ; ISSN 0963-8288 1464-5165

الاتاحة: http://dx.doi.org/10.1080/09638288.2024.2424439
https://www.tandfonline.com/doi/pdf/10.1080/09638288.2024.2424439

المؤلفون: Töpf, A. (Ana), Cox, D. (Dan), Zaharieva, Irina T., Di Leo, V. (Valeria), Sarparanta, J. (Jaakko), Jonson, P. (Per Harald), Sealy, Ian M., Smolnikov, A. (Andrei), White, Richard J., Vihola, A. (Anna), Savarese, M. (Marco), Merteroglu, M. (Munise), Wali, N. (Neha), Laricchia, Kristen M., Venturini, C. (Cristina), Vroling, B. (Bas), Stenton, Sarah L., Cummings, Beryl B., Harris, E. (Elizabeth), Marini-Bettolo, C. (Chiara), Diaz-Manera, J. (Jordi), Henderson, M. (Matt), Barresi, R. (Rita), Duff, J. (Jennifer), England, Eleina M., Patrick, J. (Jane), Al-Husayni, S. (Sundos), Biancalana, V. (Valérie), Beggs, Alan H., Bodi, I. (Istvan), Bommireddipalli, S. (Shobhana), Bönnemann, Carsten G., Cairns, A. (Anita), Chiew, M. (Mei-Ting), Claeys, Kristl G., Cooper, Sandra T., Davis, Mark R., Donkervoort, S. (Sandra), Erasmus, Corrie E., Fassad, Mahmoud R., Genetti, Casie A., Grosmann, C. (Carla), Jungbluth, H. (Heinz), Kamsteeg, E. (Erik-Jan), Lornage, X. (Xavière), Löscher, Wolfgang N., Malfatti, E. (Edoardo), Manzur, A. (Adnan), Martí, P. (Pilar), Mongini, Tiziana E., Muelas, N. (Nuria), Nishikawa, A. (Atsuko), O’Donnell-Luria, A. (Anne), Ogonuki, N. (Narumi), O’Grady, Gina L., O’Heir, E. (Emily), Paquay, S. (Stéphanie), Phadke, R. (Rahul), Pletcher, Beth A., Romero, Norma B., Schouten, M. (Meyke), Shah, S. (Snehal), Smuts, I. (Izelle), Sznajer, Y. (Yves), Tasca, G. (Giorgio), Taylor, Robert W., Tuite, A. (Allysa), Van den Bergh, P. (Peter), VanNoy, G. (Grace), Voermans, Nicol C., Wanschitz, Julia V., Wraige, E. (Elizabeth), Yoshimura, K. (Kimihiko), Oates, Emily C., Nakagawa, O. (Osamu), Nishino, I. (Ichizo), Laporte, J. (Jocelyn), Vilchez, Juan J., MacArthur, Daniel G., Sarkozy, A. (Anna), Cordell, Heather J., Udd, B. (Bjarne), Busch-Nentwich, Elisabeth M., Muntoni, F. (Francesco), Straub, V. (Volker)

مصطلحات موضوعية: Sciences du Vivant [q-bio]/Génétique

الاتاحة: https://www.nature.com/articles/s41588-023-01651-0

المؤلفون: van Kleef, Esmee S B, Poddighe, Diego, Caleffi Pereira, Mayra, Schuurbiers, Marit L, Groothuis, Jan T, Wijkstra, Peter J, Voermans, Nicol C, Gosselink, Rik, Langer, Daniel, Doorduin, Jonne

المصدر: van Kleef , E S B , Poddighe , D , Caleffi Pereira , M , Schuurbiers , M L , Groothuis , J T , Wijkstra , P J , Voermans , N C , Gosselink , R , Langer , D & Doorduin , J 2024 , ' Future directions for respiratory muscle training in neuromuscular disorders : a scoping review ' , Respiration , vol. 103 , no. 10 , pp. 601–621 . https://doi.org/10.1159/000539726

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/3472adb6-a2c1-48cc-9d1e-4c59d7eed76b
https://research.rug.nl/en/publications/3472adb6-a2c1-48cc-9d1e-4c59d7eed76b
https://doi.org/10.1159/000539726
https://pure.rug.nl/ws/files/1135246883/000539726.pdf

المؤلفون: Slipsager, Anna, Kahr Andersena, Linda, Voermans, Nicol C., Lucía Mulas, Alejandro, Karazi, Walaa, Santallaf, Alfredo, Vissinga, John, Lokken, Nicole

مصطلحات موضوعية: Efectos fisiológicos, Salud mental

Relation: https://doi.org/10.1016/j.nmd.2023.11.003; http://hdl.handle.net/11268/13116

الاتاحة: http://hdl.handle.net/11268/13116
https://doi.org/10.1016/j.nmd.2023.11.003

المؤلفون: Vincenten, Sanne C. C., van Doorn, Jeroen L. M., Teeselink, Sjan, Rasing, Nathaniel B., Padberg, George W., Voermans, Nicol C., van Engelen, Baziel G. M., van Alfen, Nens, Mul, Karlien

المساهمون: Prinses Beatrix Spierfonds

المصدر: Muscle & Nerve ; volume 70, issue 5, page 1062-1071 ; ISSN 0148-639X 1097-4598

الاتاحة: http://dx.doi.org/10.1002/mus.28254
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mus.28254

المؤلفون: de Winter, Josine M., Molenaar, Joery P., Yuen, Michaela, van der Pijl, Robbert, Shen, Shengyi, Conijn, Stefan, van de Locht, Martijn, Willigenburg, Menne, Bogaards, Sylvia Jp, van Kleef, Esmee Sb, Lassche, Saskia, Persson, Malin, Rassier, Dilson E., Sztal, Tamar E., Ruparelia, Avnika A., Oorschot, Viola, Ramm, Georg, Hall, Thomas E., Xiong, Zherui, Johnson, Christopher N., Li, Frank, Kiss, Balazs, Lozano-Vidal, Noelia, Boon, Reinier A., Marabita, Manuela, Nogara, Leonardo, Blaauw, Bert, Rodenburg, Richard J., Küsters, Benno, Doorduin, Jonne, Beggs, Alan H., Granzier, Henk, Campbell, Ken, Ma, Weikang, Irving, Thomas, Malfatti, Edoardo, Romero, Norma B., Bryson-Richardson, Robert J., van Engelen, Baziel Gm, Voermans, Nicol C., Ottenheijm, Coen Ac

المصدر: de Winter , J M , Molenaar , J P , Yuen , M , van der Pijl , R , Shen , S , Conijn , S , van de Locht , M , Willigenburg , M , Bogaards , S J , van Kleef , E S , Lassche , S , Persson , M , Rassier , D E , Sztal , T E , Ruparelia , A A , Oorschot , V , Ramm , G , Hall , T E , Xiong , Z , Johnson , C N , Li , F , ....

Relation: https://research.vumc.nl/en/publications/85cc5ed1-955c-4faa-aba5-a2c68c09fae3

الاتاحة: https://research.vumc.nl/en/publications/85cc5ed1-955c-4faa-aba5-a2c68c09fae3
https://doi.org/10.1172/JCI179111
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85184115254&origin=inward
https://www.ncbi.nlm.nih.gov/pubmed/38299595