المؤلفون: Vincenten, S.C.C., Van der Stoep, N., Paulussen, A.D.C., Mul, K., Badrising, U.A., Kriek, M., Van der Heijden, O.W.H., Van Engelen, B.G.M., Voermans, N.C., De Die-Smulders, C.E.M., Lassche, S.

المصدر: Vincenten , S C C , Van der Stoep , N , Paulussen , A D C , Mul , K , Badrising , U A , Kriek , M , Van der Heijden , O W H , Van Engelen , B G M , Voermans , N C , De Die-Smulders , C E M & Lassche , S 2022 , ' Facioscapulohumeral muscular dystrophy-Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease ' , Clinical Genetics , vol. 101 , no. 2 , pp. 149-160 . https://doi.org/10.1111/cge.14031Test

مصطلحات موضوعية: delivery, facioscapulohumeral muscular dystrophy, genetics, pregnancy, preimplantation genetic testing, prenatal diagnosis, NEUROMUSCULAR DISORDERS, SOMATIC MOSAICISM, D4Z4 REPEAT, FSHD, DIAGNOSIS, WOMEN, REARRANGEMENTS, PHENOTYPE, SMCHD1, REGION

الإتاحة: https://doi.org/10.1111/cge.14031Test
https://cris.maastrichtuniversity.nl/en/publications/93b9ae54-e50c-4e6f-b5c8-a9bfd7202d8cTest

المؤلفون: Banerji, Christopher R.S., Zammit, Peter S.

المصدر: Banerji , C R S & Zammit , P S 2021 , ' Pathomechanisms and biomarkers in facioscapulohumeral muscular dystrophy : roles of DUX4 and PAX7 ' , EMBO Molecular Medicine , vol. 13 , no. 8 , e13695 . https://doi.org/10.15252/emmm.202013695Test

مصطلحات موضوعية: biomarker, DUX4, facioscapulohumeral muscular dystrophy (FSHD), pathology, PAX7

الإتاحة: https://doi.org/10.15252/emmm.202013695Test
https://kclpure.kcl.ac.uk/portal/en/publications/be2d0217-2783-4b85-a215-27e9880a82ddTest
http://www.scopus.com/inward/record.url?scp=85108299629&partnerID=8YFLogxKTest

المؤلفون: Banerji, Christopher R.S., Zammit, Peter S.

المصدر: Banerji , C R S & Zammit , P S 2021 , ' Pathomechanisms and biomarkers in facioscapulohumeral muscular dystrophy : roles of DUX4 and PAX7 ' , EMBO Molecular Medicine , vol. 13 , no. 8 , e13695 . https://doi.org/10.15252/emmm.202013695Test

مصطلحات موضوعية: biomarker, DUX4, facioscapulohumeral muscular dystrophy (FSHD), pathology, PAX7

الإتاحة: https://doi.org/10.15252/emmm.202013695Test
https://kclpure.kcl.ac.uk/portal/en/publications/pathomechanisms-and-biomarkers-in-facioscapulohumeral-muscular-dystrophyTest(be2d0217-2783-4b85-a215-27e9880a82dd).html
http://www.scopus.com/inward/record.url?scp=85108299629&partnerID=8YFLogxKTest

المؤلفون: Monforte, Mauro, Attarian, Shahram, Vissing, John, Diaz-Manera, Jordi, Tasca, Giorgio

المصدر: Monforte , M , Attarian , S , Vissing , J , Diaz-Manera , J , Tasca , G & 265th ENMC workshop participants 2023 , ' 265th ENMC International Workshop : Muscle imaging in Facioscapulohumeral Muscular Dystrophy (FSHD): relevance for clinical trials. 22–24 April 2022, Hoofddorp, The Netherlands ' , Neuromuscular Disorders , vol. 33 , no. 1 , pp. 65-75 . https://doi.org/10.1016/j.nmd.2022.10.005Test

مصطلحات موضوعية: Biomarkers, Facioscapulohumeral Muscular Dystrophy, FSHD, Muscle imaging, Muscle MRI

الإتاحة: https://doi.org/10.1016/j.nmd.2022.10.005Test
https://curis.ku.dk/portal/da/publications/265th-enmc-international-workshopTest(4b5cf683-7606-4ae3-8fd3-06c5ad10c7d6).html

المؤلفون: Essers, Johannes Maria Nicolaas, Peters, Anneliek, Meijer, Kenneth, Peters, Koen, Murgia, Alessio

المصدر: Essers , J M N , Peters , A , Meijer , K , Peters , K & Murgia , A 2019 , ' Superficial Shoulder Muscle Synergy Analysis in Facioscapulohumeral Dystrophy During Humeral Elevation Tasks ' , Ieee Transactions on Neural Systems and Rehabilitation Engineering , vol. 27 , no. 8 , pp. 1556-1565 . https://doi.org/10.1109/TNSRE.2019.2927765Test

مصطلحات موضوعية: FSHD, humeral elevation, motor control, muscular dystrophy, muscle synergies, scapula rotation, MUSCULAR-DYSTROPHY, REACHABLE WORKSPACE, PATTERNS, ACTIVATION, KINEMATICS, INDIVIDUALS, PERFORMANCE, DISORDERS, STRENGTH, PEOPLE

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1109/TNSRE.2019.2927765Test
https://cris.maastrichtuniversity.nl/en/publications/8539a8db-7ac8-4eca-9cb4-2fb8d49ee2b5Test
https://cris.maastrichtuniversity.nl/ws/files/53215109/Essers_2019_Superficial_Shoulder_Muscle_Synergy_Analysis.pdfTest

المؤلفون: Goselink, Rianne J. M., Voermans, Nicol C., Okkersen, Kees, Brouwer, Oebele F., Padberg, George W., Nikolic, Ana, Tupler, Rossella, Dorobek, Malgorzata, Mah, Jean K., van Engelen, Baziel G. M., Schreuder, Tim H. A., Erasmus, Corrie E.

المصدر: Goselink , R J M , Voermans , N C , Okkersen , K , Brouwer , O F , Padberg , G W , Nikolic , A , Tupler , R , Dorobek , M , Mah , J K , van Engelen , B G M , Schreuder , T H A & Erasmus , C E 2017 , ' Early onset facioscapulohumeral dystrophy - a systematic review using individual patient data ' , Neuromuscular disorders , vol. 27 , no. 12 , pp. 1077-1083 . https://doi.org/10.1016/j.nmd.2017.09.007Test

مصطلحات موضوعية: Facioscapulohumeral dystrophy, Early onset, Infantile FSHD, SENSORINEURAL HEARING-LOSS, MUSCULAR-DYSTROPHY, MENTAL-RETARDATION, COATS SYNDROME, ATYPICAL FEATURES, RETINAL-VESSELS, FACIAL DIPLEGIA, MOBIUS-SYNDROME, EPILEPSY, DISEASE

العلاقة: https://research.rug.nl/en/publications/bc6e522d-23d2-42ee-99ed-8d92df4512c4Test

الإتاحة: https://doi.org/10.1016/j.nmd.2017.09.007Test
https://hdl.handle.net/11370/bc6e522d-23d2-42ee-99ed-8d92df4512c4Test
https://research.rug.nl/en/publications/bc6e522d-23d2-42ee-99ed-8d92df4512c4Test
https://iris.unimore.it/bitstream/11380/1148396/1/EO%20FSHD.pdfTest

المؤلفون: Knopp, Paul, Krom, Yvonne D., Banerji, Christopher R S, Panamarova, Maryna, Moyle, Louise A., den Hamer, Bianca, van der Maarel, Silvére M., Zammit, Peter S.

المصدر: Knopp , P , Krom , Y D , Banerji , C R S , Panamarova , M , Moyle , L A , den Hamer , B , van der Maarel , S M & Zammit , P S 2016 , ' DUX4 induces a transcriptome more characteristic of a less-differentiated cell state and inhibits myogenesis ' , Journal of Cell Science , vol. 129 , no. 20 , pp. 3816-3831 . https://doi.org/10.1242/jcs.180372Test

مصطلحات موضوعية: DUX4, DUX4c, FSHD, Satellite cell, Skeletal muscle, Stem cells, Transcriptome

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1242/jcs.180372Test
https://kclpure.kcl.ac.uk/portal/en/publications/f9894d8f-2d56-47c4-8f65-ad58f759e430Test
https://kclpure.kcl.ac.uk/ws/files/61839203/DUX4_induces_a_transcript.pdfTest
http://www.scopus.com/inward/record.url?scp=84995387826&partnerID=8YFLogxKTest

المؤلفون: Knopp, Paul, Krom, Yvonne D., Banerji, Christopher R S, Panamarova, Maryna, Moyle, Louise A., den Hamer, Bianca, van der Maarel, Silvére M., Zammit, Peter S.

المصدر: Knopp , P , Krom , Y D , Banerji , C R S , Panamarova , M , Moyle , L A , den Hamer , B , van der Maarel , S M & Zammit , P S 2016 , ' DUX4 induces a transcriptome more characteristic of a less-differentiated cell state and inhibits myogenesis ' , Journal of Cell Science , vol. 129 , no. 20 , pp. 3816-3831 . https://doi.org/10.1242/jcs.180372Test

مصطلحات موضوعية: DUX4, DUX4c, FSHD, Satellite cell, Skeletal muscle, Stem cells, Transcriptome

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1242/jcs.180372Test
https://kclpure.kcl.ac.uk/portal/en/publications/dux4-induces-a-transcriptome-more-characteristic-of-a-lessdifferentiated-cell-state-and-inhibits-myogenesisTest(f9894d8f-2d56-47c4-8f65-ad58f759e430).html
https://kclpure.kcl.ac.uk/ws/files/61839203/DUX4_induces_a_transcript.pdfTest
http://www.scopus.com/inward/record.url?scp=84995387826&partnerID=8YFLogxKTest

المؤلفون: Banerji, Christopher R.S., Cammish, Phillip, Evangelista, Teresinha, Zammit, Peter S., Straub, Volker, Marini-Bettolo, Chiara

المصدر: Banerji , C R S , Cammish , P , Evangelista , T , Zammit , P S , Straub , V & Marini-Bettolo , C 2020 , ' Facioscapulohumeral muscular dystrophy 1 patients participating in the UK FSHD registry can be subdivided into 4 patterns of self-reported symptoms ' , Neuromuscular Disorders , vol. 30 , no. 4 , pp. 315-328 . https://doi.org/10.1016/j.nmd.2020.03.001Test

مصطلحات موضوعية: Clinical subgroup, Facioscapulohumeral muscular dystrophy, FSHD, FSHD1, Heterogeneity, Patient registry, Symptom onset

الإتاحة: https://doi.org/10.1016/j.nmd.2020.03.001Test
https://kclpure.kcl.ac.uk/portal/en/publications/d1860f14-0b33-447c-8686-1d45919ceb0dTest
http://www.scopus.com/inward/record.url?scp=85083435692&partnerID=8YFLogxKTest

المؤلفون: Banerji, Christopher R.S., Cammish, Phillip, Evangelista, Teresinha, Zammit, Peter S., Straub, Volker, Marini-Bettolo, Chiara

المصدر: Banerji , C R S , Cammish , P , Evangelista , T , Zammit , P S , Straub , V & Marini-Bettolo , C 2020 , ' Facioscapulohumeral muscular dystrophy 1 patients participating in the UK FSHD registry can be subdivided into 4 patterns of self-reported symptoms ' , Neuromuscular Disorders , vol. 30 , no. 4 , pp. 315-328 . https://doi.org/10.1016/j.nmd.2020.03.001Test

مصطلحات موضوعية: Clinical subgroup, Facioscapulohumeral muscular dystrophy, FSHD, FSHD1, Heterogeneity, Patient registry, Symptom onset

الإتاحة: https://doi.org/10.1016/j.nmd.2020.03.001Test
https://kclpure.kcl.ac.uk/portal/en/publications/facioscapulohumeral-muscular-dystrophy-1-patients-participating-in-the-ukTest-fshd-registry-can-be-subdivided-into-4-patterns-of-selfreported-symptoms(d1860f14-0b33-447c-8686-1d45919ceb0d).html
http://www.scopus.com/inward/record.url?scp=85083435692&partnerID=8YFLogxKTest