المؤلفون: Marchesi E., Bovolenta M., Preti L., Capobianco M. L., Mamchaoui K., Bertoldo M., Perrone D.

المساهمون: Marchesi, E., Bovolenta, M., Preti, L., Capobianco, M. L., Mamchaoui, K., Bertoldo, M., Perrone, D.

مصطلحات موضوعية: antisense oligonucleotide, conjugation, bile acid, ursodeoxycholic acid, solid support, solid phase synthesi, exon-skipping, dystrophin

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/34946743; info:eu-repo/semantics/altIdentifier/wos/WOS:000736459100001; volume:26; issue:24; firstpage:7662; lastpage:7678; numberofpages:17; journal:MOLECULES; https://hdl.handle.net/11392/2470951; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85121553568; https://www.mdpi.com/1420-3049/26/24/7662

الاتاحة: https://hdl.handle.net/11392/2470951
https://doi.org/10.3390/molecules26247662
https://www.mdpi.com/1420-3049/26/24/7662

المؤلفون: Tone, Y, Mamchaoui, K, Tsoumpra, MK, Hashimoto, Y, Terada, R, Maruyama, R, Gait, MJ, Arzumanov, AA, McClorey, G, Imamura, M, Takeda, S, Yokota, T, Wood, MJA, Mouly, V, Aoki, Y

Relation: https://ora.ox.ac.uk/objects/uuid:0052aad1-fe0c-421d-ac26-9d0990db3db6; https://doi.org/10.1089/nat.2020.0907

الاتاحة: https://doi.org/10.1089/nat.2020.0907
https://ora.ox.ac.uk/objects/uuid:0052aad1-fe0c-421d-ac26-9d0990db3db6

المؤلفون: Moulay, G., Nelson, I., Lainé, J., Cohen, E., Lemaître, M., Mamchaoui, K., Julien, L., Brochier, G., Beuvin, M., Yaou, R. Ben, Malfatti, E., Fardeau, C., Fardeau, M., Romero, N., Bitoun, M., Stojkovic, T., Bonne, G., Vassilopoulos, S.

المصدر: Neuromuscular Disorders ; volume 31, page S141-S142 ; ISSN 0960-8966

الاتاحة: http://dx.doi.org/10.1016/j.nmd.2021.07.326
https://api.elsevier.com/content/article/PII:S0960896621005137?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0960896621005137?httpAccept=text/plain

المؤلفون: Saini J, Faroni A, Abd Al Samid M, Reid AJ, Lightfoot AP, Mamchaoui K, Mouly V, Butler-Browne G, McPhee JS, Degens H, Al-Shanti N

المصدر: Stem Cells and Cloning: Advances and Applications, Vol Volume 12, Pp 1-9 (2019)

مصطلحات موضوعية: Neuromuscular Junction (NMJ), Co-Culture, Myoblast, Myotube, Motor Neuron, Motoneuron, Cytology, QH573-671

وصف الملف: electronic resource

Relation: https://www.dovepress.com/simplified-in-vitro-engineering-of-neuromuscular-junctions-between-rat-peer-reviewed-article-SCCAA; https://doaj.org/toc/1178-6957

URL الوصول: https://doaj.org/article/b15e2d87a155441f8a08030513604d96

المؤلفون: Abd Al Samid M, McPhee JS, Saini J, McKay TR, Fitzpatrick LM, Mamchaoui K, Bigot A, Mouly V, Butler-Browne G, Al-Shanti N

المصدر: Stem Cells and Cloning: Advances and Applications, Vol Volume 11, Pp 85-93 (2018)

مصطلحات موضوعية: motor unit, neuromuscular junctions, human Embryonic Stem cells, Neuronal progenitor cells, human myoblasts, Cytology, QH573-671

وصف الملف: electronic resource

Relation: https://www.dovepress.com/a-functional-human-motor-unit-platform-engineered-from-human-embryonic-peer-reviewed-article-SCCAA; https://doaj.org/toc/1178-6957

URL الوصول: https://doaj.org/article/554da88af55441119672c7ea10ea2cf6

المؤلفون: Benarroch, L., Madsen-Østerbye, J., Abdelhalim, M., Mamchaoui, K., Ohana, J., Bigot, A., Mouly, V., Bertrand, A., Collas, P., Bonne, Gisèle

المساهمون: Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Oslo University Hospital Oslo, Fondation FondaMental Créteil

المصدر: Neuromuscular Disorders ; 28th International Annual Congress of the World Muscle Society ; https://hal.science/hal-04280205 ; 28th International Annual Congress of the World Muscle Society, Oct 2023, Charleston, United States. pp.S158, ⟨10.1016/j.nmd.2023.07.363⟩

مصطلحات موضوعية: LMNA, Lamin associated domain, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology

جغرافية الموضوع: Charleston, United States

Time: Charleston, United States

Relation: hal-04280205; https://hal.science/hal-04280205

الاتاحة: https://hal.science/hal-04280205
https://doi.org/10.1016/j.nmd.2023.07.363

المؤلفون: Timpani, Cara, Mamchaoui, K, Butler-Browne, Gillian, Rybalka, Emma

مصطلحات موضوعية: 0601 Biochemistry and Cell Biology, 1109 Neurosciences, Institute for Health and Sport, mitochondrial viability, functional indices, superoxide production, extracellular acidification rate

وصف الملف: text

Relation: https://vuir.vu.edu.au/42096/; https://doi.org/10.3390/antiox9121268; https://vuir.vu.edu.au/42096/3/antioxidants-09-01268.pdf; https://vuir.vu.edu.au/42096/1/manuscript.v5%20%28Timpani%20et%20al.%20Nitrite%20Commentary%20Proofread%20copy%29.docx; Timpani, Cara orcid:0000-0003-4567-4319 , Mamchaoui, K, Butler-Browne, Gillian and Rybalka, Emma orcid:0000-0002-4854-0036 (2020) Nitric oxide (NO) and duchenne muscular dystrophy: NO way to go? Antioxidants, 9 (12). pp. 1-8. ISSN 2076-3921

الاتاحة: https://vuir.vu.edu.au/42096/
https://www.mdpi.com/2076-3921/9/12/1268
https://doi.org/10.3390/antiox9121268
https://vuir.vu.edu.au/42096/3/antioxidants-09-01268.pdf
https://vuir.vu.edu.au/42096/1/manuscript.v5%20%28Timpani%20et%20al.%20Nitrite%20Commentary%20Proofread%20copy%29.docx

المؤلفون: Foley, A. Reghan, Zou, Y. (Yaqun), Dunford, James E., Rooney, J. (Jachinta), Chandra, G. (Goutam), Xiong, H. (Hui), Straub, V. (Volker), Voit, T. (Thomas), Romero, N. (Norma), Donkervoort, S. (Sandra), Hu, Y. (Ying), Markello, T. (Thomas), Horn, A. (Adam), Qebibo, L. (Leila), Dastgir, J. (Jahannaz), Meilleur, Katherine G., Finkel, Richard S., Fan, Y. (Yanbin), Mamchaoui, K. (Kamel), Duguez, S. (Stephanie), Nelson, I. (Isabelle), Laporte, J. (Jocelyn), Santi, M. (Mariarita), Malfatti, E. (Edoardo), Maisonobe, T. (Thierry), Touraine, P. (Philippe), Hirano, M. (Michio), Hughes, I. (Imelda), Bushby, K. (Kate), Oppermann, U. (Udo), Böhm, J. (Johann), Jaiswal, Jyoti K., Stojkovic, T. (Tanya), Bönnemann, Carsten G.

مصطلحات موضوعية: Sciences du Vivant [q-bio]/Neurosciences [q-bio.NC]

الاتاحة: https://onlinelibrary.wiley.com/doi/10.1002/ana.25772

المؤلفون: Timpani, CA, Mamchaoui, K, Butler-Browne, G, Rybalka, E

Relation: pii: antiox9121268; Timpani, C. A., Mamchaoui, K., Butler-Browne, G. & Rybalka, E. (2020). Nitric Oxide (NO) and Duchenne Muscular Dystrophy: NO Way to Go?. ANTIOXIDANTS, 9 (12), https://doi.org/10.3390/antiox9121268.; http://hdl.handle.net/11343/281270

الاتاحة: http://hdl.handle.net/11343/281270

المؤلفون: Foley, AR, Zou, Y, Dunford, JE, Rooney, J, Chandra, G, Xiong, H, Straub, V, Voit, T, Romero, N, Donkervoort, S, Hu, Y, Markello, T, Horn, A, Qebibo, L, Dastgir, J, Meilleur, KG, Finkel, RS, Fan, Y, Mamchaoui, K, Duguez, S, Nelson, I, Laporte, J, Santi, M, Malfatti, E, Maisonobe, T, Touraine, P, Hirano, M, Hughes, I, Bushby, K, Oppermann, U, Bohm, J, Jaiswal, JK, Stojkovic, T, Bonnemann, CG

المصدر: Annals of Neurology (2020) (In press).

مصطلحات موضوعية: GERANYLGERANYL PYROPHOSPHATE SYNTHASE, SENSORINEURAL HEARING-LOSS, VICI SYNDROME, PROTEIN PRENYLATION, DIPHOSPHATE SYNTHASE, CRYSTAL-STRUCTURE, MUTATION, BALANCE, GTPASES, CELLS

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10105171/1/ana.25772.pdf; https://discovery.ucl.ac.uk/id/eprint/10105171/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10105171/1/ana.25772.pdf
https://discovery.ucl.ac.uk/id/eprint/10105171/

المؤلفون: Timpani, CA, Goodman, CA, Stathis, CG, White, JD, Mamchaoui, K, Butler-Browne, G, Gueven, N, Hayes, A, Rybalka, E

Relation: pii: 10.1038/s41598-020-57610-w; Timpani, C. A., Goodman, C. A., Stathis, C. G., White, J. D., Mamchaoui, K., Butler-Browne, G., Gueven, N., Hayes, A. & Rybalka, E. (2020). Adenylosuccinic acid therapy ameliorates murine Duchenne Muscular Dystrophy. SCIENTIFIC REPORTS, 10 (1), https://doi.org/10.1038/s41598-020-57610-w.; http://hdl.handle.net/11343/247453

الاتاحة: http://hdl.handle.net/11343/247453

المؤلفون: Saini, J, Faroni, A, Reid, AJ, Mamchaoui, K, Mouly, V, Butler-Browne, G, Lightfoot, AP, McPhee, JS, Degens, H, Al-Shanti, N

مصطلحات موضوعية: RM Therapeutics. Pharmacology

وصف الملف: text

Relation: https://researchonline.ljmu.ac.uk/id/eprint/16836/1/A%20Novel%20Bioengineered%20Functional%20Motor%20Unit%20Platform%20to%20Study%20Neuromuscular%20Interaction.pdf; Saini, J, Faroni, A, Reid, AJ, Mamchaoui, K, Mouly, V, Butler-Browne, G, Lightfoot, AP, McPhee, JS, Degens, H and Al-Shanti, N (2020) A novel bioengineered functional motor unit platform to study neuromuscular interaction. Journal of Clinical Medicine, 9 (10). ISSN 2077-0383

الاتاحة: http://researchonline.ljmu.ac.uk/id/eprint/16836/
https://researchonline.ljmu.ac.uk/id/eprint/16836/1/A%20Novel%20Bioengineered%20Functional%20Motor%20Unit%20Platform%20to%20Study%20Neuromuscular%20Interaction.pdf
https://doi.org/10.3390/jcm9103238

المؤلفون: Owens, DJ, Messeant, J, Moog, S, Viggars, M, Ferry, A, Mamchaoui, K, Lacene, E, Romero, N, Brull, A, Bonne, G, Butler-Browne, G, Coirault, C

مصطلحات موضوعية: QH301 Biology, QH426 Genetics, QP Physiology, RA0421 Public health. Hygiene. Preventive Medicine, RC1200 Sports Medicine

وصف الملف: text

Relation: https://researchonline.ljmu.ac.uk/id/eprint/14443/1/Lamin-Related%20Congenital%20Muscular%20Dystrophy%20Alters%20Mechanical%20Signaling%20and%20Skeletal%20Muscle%20Growth.pdf; Owens, DJ, Messeant, J, Moog, S, Viggars, M, Ferry, A, Mamchaoui, K, Lacene, E, Romero, N, Brull, A, Bonne, G, Butler-Browne, G and Coirault, C (2020) Lamin-Related Congenital Muscular Dystrophy Alters Mechanical Signaling and Skeletal Muscle Growth. International Journal of Molecular Sciences, 22 (1). ISSN 1661-6596

الاتاحة: http://researchonline.ljmu.ac.uk/id/eprint/14443/
https://researchonline.ljmu.ac.uk/id/eprint/14443/1/Lamin-Related%20Congenital%20Muscular%20Dystrophy%20Alters%20Mechanical%20Signaling%20and%20Skeletal%20Muscle%20Growth.pdf
https://doi.org/10.3390/ijms22010306

المؤلفون: Hiller, M., Falzarano, M. S., Garcia-Jimenez, I., Sardone, V., Verheul, R. C., Popplewell, L., Anthony, K., Ruiz-Del-Yerro, E., Osman, H., Goeman, J. J., Mamchaoui, K., Dickson, G., Ferlini, A., Muntoni, F., Aartsma-Rus, A., Arechavala-Gomeza, V., Datson, N. A., Spitali, P.

المساهمون: Hiller, M., Falzarano, M. S., Garcia-Jimenez, I., Sardone, V., Verheul, R. C., Popplewell, L., Anthony, K., Ruiz-Del-Yerro, E., Osman, H., Goeman, J. J., Mamchaoui, K., Dickson, G., Ferlini, A., Muntoni, F., Aartsma-Rus, A., Arechavala-Gomeza, V., Datson, N. A., Spitali, P.

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/30278058; info:eu-repo/semantics/altIdentifier/wos/WOS:000446010200013; volume:13; issue:10; firstpage:e0204485-1; lastpage:e0204485-15; numberofpages:15; journal:PLOS ONE; http://hdl.handle.net/11392/2406538; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85054356248; https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0204485&type=printable; https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0204485

الاتاحة: http://hdl.handle.net/11392/2406538
https://doi.org/10.1371/journal.pone.0204485
https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0204485&type=printable
https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0204485

المؤلفون: Bolduc, V, Foley, AR, Solomon-Degefa, H, Sarathy, A, Donkervoort, S, Hu, Y, Chen, GS, Sizov, K, Nalls, M, Zhou, H, Aguti, S, Cummings, BB, Lek, M, Tukiainen, T, Marshall, JL, Regev, O, Marek-Yagel, D, Sarkozy, A, Butterfield, RJ, Jou, C, Jimenez-Mallebrera, C, Li, Y, Gartioux, C, Mamchaoui, K, Allamand, V, Gualandi, F, Ferlini, A, Hanssen, E, COL6A1 Intron 11 Study Group, Wilton, SD, Lamandé, SR, MacArthur, DG, Wagener, R, Muntoni, F, Bönnemann, CG

المصدر: JCI Insight , 4 (6) (2019)

مصطلحات موضوعية: Collagens, Extracellular matrix, Muscle Biology, Neuromuscular disease, Therapeutics

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10070901/7/Muntoni%20124403.1-20190307154508-covered-253bed37ca4c1ab43d105aefdf7b5536.pdf; https://discovery.ucl.ac.uk/id/eprint/10070901/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10070901/7/Muntoni%20124403.1-20190307154508-covered-253bed37ca4c1ab43d105aefdf7b5536.pdf
https://discovery.ucl.ac.uk/id/eprint/10070901/

المؤلفون: Saini, J, Faroni, A, Al Samid, MA, Reid, AJ, Lightfoot, AP, Mamchaoui, K, Mouly, V, Butler-Browne, G, McPhee, JS, Degens, H, Al-Shanti, N

مصطلحات موضوعية: RM Therapeutics. Pharmacology

وصف الملف: text

Relation: https://researchonline.ljmu.ac.uk/id/eprint/16839/1/Simplified%20in%20vitro%20engineering%20of%20neuromuscular%20junctions%20between%20rat%20embryonic%20motoneurons%20and%20immortalized%20human%20skeletal.pdf; Saini, J, Faroni, A, Al Samid, MA, Reid, AJ, Lightfoot, AP, Mamchaoui, K, Mouly, V, Butler-Browne, G, McPhee, JS, Degens, H and Al-Shanti, N (2019) Simplified in vitro engineering of neuromuscular junctions between rat embryonic motoneurons and immortalized human skeletal muscle cells. Stem Cells and Cloning: Advances and Applications, 12. pp. 1-9. ISSN 1178-6957

الاتاحة: http://researchonline.ljmu.ac.uk/id/eprint/16839/
https://researchonline.ljmu.ac.uk/id/eprint/16839/1/Simplified%20in%20vitro%20engineering%20of%20neuromuscular%20junctions%20between%20rat%20embryonic%20motoneurons%20and%20immortalized%20human%20skeletal.pdf
https://doi.org/10.2147/SCCAA.S187655

المؤلفون: Tasca, F., Brescia, M., Liu, J., Janssen, J.M., Mamchaoui, K., Gonçalves, M.A.F.V.

المصدر: Molecular Therapy: Nucleic Acids

وصف الملف: application/pdf

Relation: https://www.cell.com/molecular-therapy-family/nucleic-acids/fulltext/S2162-2531(23)00045-8?_returnURL=https%3A%2F%2Flinkinghub.elsevier.com%2Fretrieve%2Fpii%2FS2162253123000458%3Fshowall%3Dtrue; lumc-id: 184892681; https://hdl.handle.net/1887/3754696

الاتاحة: https://hdl.handle.net/1887/3754696
https://www.cell.com/molecular-therapy-family/nucleic-acids/fulltext/S2162-2531(23)00045-8?_returnURL=https%3A%2F%2Flinkinghub.elsevier.com%2Fretrieve%2Fpii%2FS2162253123000458%3Fshowall%3Dtrue
https://doi.org/10.1016/j.omtn.2023.02.025

المؤلفون: Benzi, A., Baratto, S., Astigiano, C., Sturla, L., Panicucci, C., Mamchaoui, K., Raffaghello, L., Bruzzone, S., Gazzerro, E., Bruno, C.

مصطلحات موضوعية: Function and Dysfunction of the Nervous System, Topic 3: Integrative Biomedicine

Relation: Aberrant adenosine triphosphate release and impairment of P2Y2-Mediated signaling in sarcoglycanopathies. Benzi, A. and Baratto, S. and Astigiano, C. and Sturla, L. and Panicucci, C. and Mamchaoui, K. and Raffaghello, L. and Bruzzone, S. and Gazzerro, E. and Bruno, C. Laboratory Investigation 103 (3): 100037. March 2023

الاتاحة: http://edoc.mdc-berlin.de/23210/
https://edoc.mdc-berlin.de/23210/
https://doi.org/10.1016/j.labinv.2022.100037

المؤلفون: Butler-Browne, G., Ohana, J., Mamchaoui, K., Bensalah, M., Negroni, E., Trollet, C., Bigot, A., Mouly, V.

المصدر: Neuromuscular Disorders ; volume 33, page S109 ; ISSN 0960-8966

الاتاحة: http://dx.doi.org/10.1016/j.nmd.2023.07.176
https://api.elsevier.com/content/article/PII:S0960896623003565?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0960896623003565?httpAccept=text/plain

المؤلفون: Gimpel, P., Lee, Y. L., Sobota, R. M., Calvi, A., Koullourou, Victoria, Patel, Rutti, Mamchaoui, K., Nédélec, F., Shackleton, Sue, Schmoranzer, J., Burke, B., Cadot, B., Gomes, E. R.

مصطلحات موضوعية: Akap450, Nesprin-1, Nesprin-1α, centrosome, cytosim computer simulation, microtubules, non-centrosomal MTOC, nuclear envelope, nuclear positioning, skeletal muscle

Relation: https://www.ncbi.nlm.nih.gov/pubmed/28966089; Current Biology, 2017, 27 (19), pp. 2999-3009.e9; https://www.sciencedirect.com/science/article/pii/S0960982217310692?via%3Dihub; http://hdl.handle.net/2381/41970; S0960-9822(17)31069-2

الاتاحة: https://www.sciencedirect.com/science/article/pii/S0960982217310692?via%3Dihub
http://hdl.handle.net/2381/41970
https://doi.org/10.1016/j.cub.2017.08.031