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1Academic Journal
المؤلفون: Galli, Ricardo, A, Borsboom, Tamara, C, Gineste, Charlotte, Brocca, Lorenza, Rossi, Maira, Hwee, Darren, T, Malik, Fady, I, Bottinelli, Roberto, Gondin, Julien, Pellegrino, Maria-Antonietta, de Winter, Josine, M, Ottenheijm, Coen A.C.
المساهمون: Vrije Universiteit Amsterdam Amsterdam (VU), Centre de résonance magnétique biologique et médicale (CRMBM), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS), Università degli Studi di Pavia Italia = University of Pavia Italy = Université de Pavie Italie (UNIPV), Cytokinetics Inc (CI), Physiopathologie et génétique du neurone et du muscle (PGNM), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), University of Arizona
المصدر: ISSN: 0022-1295.
مصطلحات موضوعية: [SDV.MHEP.PHY]Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO], [SDV.SP.PHARMA]Life Sciences [q-bio]/Pharmaceutical sciences/Pharmacology
Relation: info:eu-repo/semantics/altIdentifier/pmid/38376469; PUBMED: 38376469; PUBMEDCENTRAL: PMC10876480
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2Academic Journal
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 -
3Academic Journal
المؤلفون: Claassen, Wout J., Ottenheijm, Coen A.C.
المساهمون: National Heart, Lung, and Blood Institute
المصدر: Journal of General Physiology ; volume 155, issue 7 ; ISSN 0022-1295 1540-7748
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4Academic Journal
المؤلفون: van den Berg, Marloes, Peters, Eva L., van der Pijl, Robbert J., Shen, Shengyi, Heunks, Leo M.A., Granzier, Henk L., Ottenheijm, Coen A.C.
المصدر: van den Berg , M , Peters , E L , van der Pijl , R J , Shen , S , Heunks , L M A , Granzier , H L & Ottenheijm , C A C 2022 , ' Rbm20 ΔRRM Mice, Expressing a Titin Isoform with Lower Stiffness, Are Protected from Mechanical Ventilation-Induced Diaphragm Weakness ' , International Journal of Molecular Sciences , vol. 23 , no. 24 , 15689 . https://doi.org/10.3390/ijms232415689
وصف الملف: application/pdf
الاتاحة: https://pure.eur.nl/en/publications/60d174d6-2e59-44e4-ab34-24928ef631be
https://doi.org/10.3390/ijms232415689
https://pure.eur.nl/ws/files/76775696/Rbm20_RRM_Mice_Expressing_a_Titin_Isoform_with_Lower_Stiffness_Are_Protected_from_Mechanical_Ventilation_Induced_Diaphragm_Weakness.pdf
http://www.scopus.com/inward/record.url?scp=85144565054&partnerID=8YFLogxK -
5Academic Journal
المؤلفون: van Kleef, Esmee S.B., van Doorn, Jeroen L.M., Gaytant, Michael A., de Weerd, Willemien, Vosse, Bettine A.H., Wallgren-Pettersson, Carina, van Engelen, Baziel G.M., Ottenheijm, Coen A.C., Voermans, Nicol C., Doorduin, Jonne
المساهمون: University Management, Department of Medical and Clinical Genetics, University of Helsinki
مصطلحات موضوعية: Diaphragm, Nemaline myopathy, Respiratory muscles, Spirometry, Ultrasound, General medicine, internal medicine and other clinical medicine
وصف الملف: application/pdf
Relation: This work was supported by the Princess Beatrix Fund [Grant number W.OR17-08] and A Foundation Building Strength.; van Kleef , E S B , van Doorn , J L M , Gaytant , M A , de Weerd , W , Vosse , B A H , Wallgren-Pettersson , C , van Engelen , B G M , Ottenheijm , C A C , Voermans , N C & Doorduin , J 2022 , ' Respiratory muscle function in patients with nemaline myopathy ' , Neuromuscular Disorders , vol. 32 , no. 8 , pp. 654-663 . https://doi.org/10.1016/j.nmd.2022.06.009; http://hdl.handle.net/10138/348049; fd9d03d4-a250-4ada-a927-6ff06397e0d0; 85133882365; 000931982300006
الاتاحة: http://hdl.handle.net/10138/348049
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6Academic Journal
المؤلفون: de Winter, Josine M., Bouman, Karlijn, Strom, Joshua, Methawasin, Mei, Jongbloed, Jan D.H., van der Roest, Wilma, van Wijngaarden, Jan, Timmermans, Janneke, Nijveldt, Robin, van den Heuvel, Frederik, Kamsteeg, Erik Jan, van Engelen, Baziel G., Galli, Ricardo, Bogaards, Sylvia J.P., Boon, Reinier A., van der Pijl, Robbert J., Granzier, Henk, Koeleman, Bobby, Amin, Ahmad S., van der Velden, Jolanda, van Tintelen, J. Peter, van den Berg, Maarten P., van Spaendonck-Zwarts, Karin Y., Voermans, Nicol C., Ottenheijm, Coen A.C.
المصدر: de Winter , J M , Bouman , K , Strom , J , Methawasin , M , Jongbloed , J D H , van der Roest , W , van Wijngaarden , J , Timmermans , J , Nijveldt , R , van den Heuvel , F , Kamsteeg , E J , van Engelen , B G , Galli , R , Bogaards , S J P , Boon , R A , van der Pijl , R J , Granzier , H , Koeleman , B , Amin , A S , van der Velden , ....
مصطلحات موضوعية: cardiomyopathy, congenital myopathy, KBTBD13, NEM6
وصف الملف: application/pdf
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7Academic Journal
المؤلفون: van der Pijl, Robbert J., Domenighetti, Andrea A., Sheikh, Farah, Ehler, Elisabeth, Ottenheijm, Coen A.C., Lange, Stephan
المصدر: van der Pijl , R J , Domenighetti , A A , Sheikh , F , Ehler , E , Ottenheijm , C A C & Lange , S 2021 , ' The titin N2B and N2A regions : biomechanical and metabolic signaling hubs in cross-striated muscles ' , Biophysical Reviews , vol. 13 , no. 5 , pp. 653-677 . https://doi.org/10.1007/s12551-021-00836-3
مصطلحات موضوعية: Mechanosensor, Muscle, Muscle mechanics, Sarcomere, Signaling, Titin
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8Academic Journal
المؤلفون: van der Pijl, Robbert J., van den Berg, Marloes, van de Locht, Martijn, Shen, Shengyi, Bogaards, Sylvia J.P., Conijn, Stefan, Langlais, Paul, Hooijman, Pleuni E., Labeit, Siegfried, Heunks, Leo M.A., Granzier, Henk, Ottenheijm, Coen A.C.
المساهمون: National Institutes of Health, National Heart, Lung, and Blood Institute, Marie Skłodowska-Curie Research and Innovation Staff Exchange 2014, National Institute of Arthritis and Musculoskeletal and Skin Diseases
المصدر: Journal of General Physiology ; volume 153, issue 7 ; ISSN 0022-1295 1540-7748
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9Academic Journal
المؤلفون: van der Pijl, Robbert J., Ottenheijm, Coen A.C.
المساهمون: National Institutes of Health, National Heart, Lung, and Blood Institute
المصدر: Journal of General Physiology ; volume 153, issue 7 ; ISSN 0022-1295 1540-7748
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10Academic Journal
المؤلفون: Mangner, Norman, Garbade, Jens, Heyne, Estelle, van den Berg, Marloes, Winzer, Ephraim B., Hommel, Jennifer, Sandri, Marcus, Jozwiak-Nozdrzykowska, Joanna, Meyer, Anna L., Lehmann, Sven, Schmitz, Clara, Malfatti, Edoardo, Schwarzer, Michael, Ottenheijm, Coen A.C., Bowen, T. Scott, Linke, Axel, Adams, Volker
المساهمون: Leipzig Heart Institute
المصدر: Circulation Research ; volume 128, issue 6, page 706-719 ; ISSN 0009-7330 1524-4571
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11Academic Journal
المؤلفون: Yuen, Michaela, Ottenheijm, Coen A.C.
المصدر: Yuen , M & Ottenheijm , C A C 2020 , ' Nebulin : big protein with big responsibilities ' , Journal of Muscle Research and Cell Motility , vol. 41 , no. 1 , pp. 103-124 . https://doi.org/10.1007/s10974-019-09565-3
الاتاحة: https://research.vumc.nl/en/publications/37b8dbfb-6106-4a8e-a2ca-7e2c928841d8
https://doi.org/10.1007/s10974-019-09565-3
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85078340325&origin=inward
https://www.ncbi.nlm.nih.gov/pubmed/31982973
http://www.scopus.com/inward/record.url?scp=85078340325&partnerID=8YFLogxK -
12Academic Journal
المؤلفون: van der Pijl, Robbert J., Hudson, Brian, Granzier-Nakajima, Tomotaroh, Li, Frank, Knottnerus, Anne M., Smith, John, Chung, Charles S., Gotthardt, Michael, Granzier, Henk L., Ottenheijm, Coen A.C.
المصدر: van der Pijl , R J , Hudson , B , Granzier-Nakajima , T , Li , F , Knottnerus , A M , Smith , J , Chung , C S , Gotthardt , M , Granzier , H L & Ottenheijm , C A C 2020 , ' Deleting Titin’s C-Terminal PEVK Exons Increases Passive Stiffness, Alters Splicing, and Induces Cross-Sectional and Longitudinal Hypertrophy in Skeletal Muscle ' , Frontiers in Physiology , vol. 11 , 494 . https://doi.org/10.3389/fphys.2020.00494
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13Academic Journal
المؤلفون: Kiss, Balázs, Gohlke, Jochen, Tonino, Paola, Hourani, Zaynab, Kolb, Justin, Strom, Joshua, Alekhina, Olga, Smith, John E., Ottenheijm, Coen A.C., Gregorio, Carol, Granzier, Henk
المصدر: Kiss , B , Gohlke , J , Tonino , P , Hourani , Z , Kolb , J , Strom , J , Alekhina , O , Smith , J E , Ottenheijm , C A C , Gregorio , C & Granzier , H 2020 , ' Nebulin and Lmod2 are critical for specifying thin-filament length in skeletal muscle ' , Science Advances , vol. 6 , no. 46 , eabc1992 . https://doi.org/10.1126/sciadv.abc1992
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14Academic Journal
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 J.P., 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 G.M., Voermans, Nicol C, Ottenheijm, Coen A.C.
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 P , 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 ....
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15Academic Journal
المؤلفون: Lindqvist, Johan, Ma, Weikang, Li, Frank, Hernandez, Yaeren, Kolb, Justin, Kiss, Balazs, Tonino, Paola, van der Pijl, Robbert, Karimi, Esmat, Gong, Henry, Strom, Josh, Hourani, Zaynab, Smith, John E., Ottenheijm, Coen A.C., Irving, Thomas, Granzier, Henk
المصدر: Lindqvist , J , Ma , W , Li , F , Hernandez , Y , Kolb , J , Kiss , B , Tonino , P , van der Pijl , R , Karimi , E , Gong , H , Strom , J , Hourani , Z , Smith , J E , Ottenheijm , C A C , Irving , T & Granzier , H 2020 , ' Triggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes as pathomechanism ' , Nature Communications , vol. 11 , no. 1 , 2699 . ....
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16Academic Journal
المؤلفون: Clayton, Joshua S., McNamara, Elyshia L., Goullee, Hayley, Conijn, Stefan, Muthsam, Keren, Musk, Gabrielle C., Coote, David, Kijas, James, Testa, Alison C., Taylor, Rhonda L., O'Hara, Amanda J., Groth, David, Ottenheijm, Coen A.C., Ravenscroft, Gianina, Laing, Nigel G., Nowak, Kristen J.
المصدر: Clayton , J S , McNamara , E L , Goullee , H , Conijn , S , Muthsam , K , Musk , G C , Coote , D , Kijas , J , Testa , A C , Taylor , R L , O'Hara , A J , Groth , D , Ottenheijm , C A C , Ravenscroft , G , Laing , N G & Nowak , K J 2020 , ' Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy ' , Acta neuropathologica communications , vol. 8 , no. ....
الاتاحة: https://research.vumc.nl/en/publications/0b321e4e-2c3a-4696-8c29-65820a916d08
https://doi.org/10.1186/s40478-020-01017-1
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85089769093&origin=inward
https://www.ncbi.nlm.nih.gov/pubmed/32819427
http://www.scopus.com/inward/record.url?scp=85089769093&partnerID=8YFLogxK -
17Academic Journal
المؤلفون: Lassche, Saskia, Küsters, Benno, Heerschap, Arend, Schyns, Maxime V.P., Ottenheijm, Coen A.C., Voermans, Nicol C., Van Engelen, Baziel G.M.
المصدر: Lassche , S , Küsters , B , Heerschap , A , Schyns , M V P , Ottenheijm , C A C , Voermans , N C & Van Engelen , B G M 2020 , ' Correlation between Quantitative MRI and Muscle Histopathology in Muscle Biopsies from Healthy Controls and Patients with IBM, FSHD and OPMD ' , Journal of Neuromuscular Diseases , vol. 7 , no. 4 , pp. 495-504 . https://doi.org/10.3233/JND-200543
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18Academic Journal
المؤلفون: Governali, Serena, Caremani, Marco, Gallart, Cristina, Pertici, Irene, Stienen, Ger, Piazzesi, Gabriella, Ottenheijm, Coen A.C., Lombardi, Vincenzo, Linari, Marco
المصدر: Governali , S , Caremani , M , Gallart , C , Pertici , I , Stienen , G , Piazzesi , G , Ottenheijm , C A C , Lombardi , V & Linari , M 2020 , ' Orthophosphate increases the efficiency of slow muscle-myosin isoform in the presence of omecamtiv mecarbil ' , Nature Communications , vol. 11 , no. 1 , 3405 . https://doi.org/10.1038/s41467-020-17143-2
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19Academic Journal
المؤلفون: Goligher, Ewan, C, Dres, Martin, Patel, Bhakti, Sahetya, Sarina, Beitler, Jeremy, Telias, Irene, Yoshida, Takeshi, Vaporidi, Katerina, Grieco, Domenico Luca, Schepens, Tom, Grasselli, Giacomo, Spadaro, Savino, Dianti, Jose, Amato, Marcelo, Bellani, Giacomo, Demoule, Alexandre, Fan, Eddy, Ferguson, Niall, Georgopoulos, Dimitrios, Guerin, Claude, Khemani, Robinder, Laghi, Franco, Mercat, Alain, Mojoli, Francesco, Ottenheijm, Coen A.C., Jaber, Samir, Heunks, Leo, Mancebo, Jordi, Mauri, Tommaso, Pesenti, Antonio, Brochard, Laurent
المساهمون: University of Toronto, Toronto General Hospital Research Institute Canada (TGHRI), University Health Network Toronto, ON, Canada, Interdepartmental Division of Critical Care Medicine, Sorbonne Université - Faculté de médecine CHU Pitié Salpétrière, CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Neurophysiologie Respiratoire Expérimentale et Clinique (UMRS 1158), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), The University of Chicago Medicine Chicago, Johns Hopkins University School of Medicine Baltimore, Columbia University College of Physicians and Surgeons, Keenan Research Centre of the Li Ka Shing Knowledge Institute Toronto, Graduate School of Medicine Osaka, Osaka University Osaka, University of Crete Heraklion (UOC), Università cattolica del Sacro Cuore = Catholic University of the Sacred Heart Roma (Unicatt), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Antwerp University Hospital Edegem (UZA), Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico, Department of Physiopatology and Transplantation, University of Milan (DEPT), Università degli Studi di Milano = University of Milan (UNIMI), Università degli Studi di Ferrara = University of Ferrara (UniFE), Italian Hospital of Buenos Aires, Universidade de São Paulo Medical School (FMUSP), Università degli Studi di Milano-Bicocca = University of Milano-Bicocca (UNIMIB), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Biomécanique cellulaire et respiratoire (BCR), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-Centre National de la Recherche Scientifique (CNRS), Hôpital Edouard Herriot CHU - HCL, Hospices Civils de Lyon (HCL), IMRB - "Biomechanics and Respiratory Apparatus" Créteil (U955 Inserm - UPEC), Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Children’s Hospital Los Angeles Los Angeles, University of Southern California (USC), Stritch School of Medicine, Edward Hines, Jr. VA Hospital, Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Fondazione IRCCS Policlinico San Matteo Pavia, Università degli Studi di Pavia Italia = University of Pavia Italy = Université de Pavie Italie (UNIPV), Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Physiologie & médecine expérimentale du Cœur et des Muscles U 1046 (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), VU University Medical Center Amsterdam, Hospital de la Santa Creu i Sant Pau
المصدر: ISSN: 1073-449X.
مصطلحات موضوعية: Mechanical ventilation, Artificial respiration, Lung injury, Myotrauma, [SDV.MHEP.PHY]Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO], [SDV.MHEP.PSR]Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract
Relation: info:eu-repo/semantics/altIdentifier/pmid/32516052; PUBMED: 32516052; PUBMEDCENTRAL: PMC7710325
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20Academic Journal
المؤلفون: Laitila, Jenni M., McNamara, Elyshia L., Wingate, Catherine D., Goullee, Hayley, Ross, Jacob A., Taylor, Rhonda L., Van Der Pijl, Robbert, Griffiths, Lisa M., Harries, Rachel, Ravenscroft, Gianina, Clayton, Joshua S., Sewry, Caroline, Lawlor, Michael W., Ottenheijm, Coen A.C., Bakker, Anthony J., Ochala, Julien, Laing, Nigel G., Wallgren-Pettersson, Carina, Pelin, Katarina, Nowak, Kristen J.
المصدر: Laitila , J M , McNamara , E L , Wingate , C D , Goullee , H , Ross , J A , Taylor , R L , Van Der Pijl , R , Griffiths , L M , Harries , R , Ravenscroft , G , Clayton , J S , Sewry , C , Lawlor , M W , Ottenheijm , C A C , Bakker , A J , Ochala , J , Laing , N G , Wallgren-Pettersson , C , Pelin , K & Nowak , K J 2020 , ' Nebulin nemaline ....
مصطلحات موضوعية: Congenital myopathy, Murine model, Nebulin, Nemaline myopathy, Neuromuscular disease, Skeletal muscle