المؤلفون: Bahout, M., Severa, G., Kamoun, E., Bouhour, F., Pegat, A., Toutain, A., Lagrange, E., Duval, F., Tard, Celine, De La Cruz, E., Féasson, L., Jacquin-Piques, A., Richard, P., Métay, C., Cavalli, M., Romero, N. B., Evangelista, T., Sole, G., Carlier, R. Y., Laforêt, P., Acket, B., Behin, A., Fernández-Eulate, G., Léonard-Louis, S., Quijano-Roy, S., Pereon, Y., Salort-Campana, E., Nadaj-Pakleza, A., Masingue, M., Malfatti, Edoardo, Stojkovic, T., Villar-Quiles, R. N.

المساهمون: Université de Lille, Inserm, CHU Lille, Lille Neurosciences & Cognition (LilNCog) - U 1172, Hôpital Henri Mondor

وصف الملف: application/rdf+xml; charset=utf-8; application/octet-stream

Relation: Journal of Neurology, Neurosurgery and Psychiatry; J Neurol Neurosurg Psychiatry; http://hdl.handle.net/20.500.12210/118892

الاتاحة: https://hdl.handle.net/20.500.12210/118892

المؤلفون: 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 B, Lassche, S, Persson, Malin, 1983, Rassier, D E, Sztal, T E, Ruparelia, A A, Oorschot, V, Ramm, G, Hall, T E, Xiong, Z, Johnson, C N, Li, F, Kiss, B, Lozano-Vidal, N, Boon, R A, Marabita, M, Nogara, L, Blaauw, B, Rodenburg, R J, Kusters, B, Doorduin, J, Beggs, A H, Granzier, H, Campbell, K, Ma, W, Irving, T, Malfatti, E, Romero, N B, Bryson-Richardson, R J, van Engelen, B G M, Voermans, N C, Ottenheijm, C A C

المصدر: Journal of Clinical Investigation. 130(2):754-767

وصف الملف: print

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-99344
https://doi.org/10.1172/JCI124000

المؤلفون: Perrin A., Metay C., Villanova M., Carlier R. -Y., Pegoraro E., Juntas Morales R., Stojkovic T., Richard I., Richard P., Romero N. B., Granzier H., Koenig M., Malfatti E., Cossee M.

المساهمون: Perrin, A., Metay, C., Villanova, M., Carlier, R. -Y., Pegoraro, E., Juntas Morales, R., Stojkovic, T., Richard, I., Richard, P., Romero, N. B., Granzier, H., Koenig, M., Malfatti, E., Cossee, M.

مصطلحات موضوعية: Adolescent, Child, Connectin, Deltoid Muscle, Female, Human, Male, Myosin Heavy Chain, Pedigree, Sibling, Muscular Diseases

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/32307885; info:eu-repo/semantics/altIdentifier/wos/WOS:000526579900001; volume:7; issue:5; firstpage:846; lastpage:854; numberofpages:9; journal:ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY; http://hdl.handle.net/11577/3395079; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85083682751

الاتاحة: http://hdl.handle.net/11577/3395079
https://doi.org/10.1002/acn3.51031

المؤلفون: Johari M., Sarparanta J., Vihola A., Jonson P. H., Savarese M., Jokela M., Torella A., Piluso G., Said E., Vella N., Cauchi M., Magot A., Magri F., Mauri E., Kornblum C., Reimann J., Stojkovic T., Romero N. B., Luque H., Huovinen S., Lahermo P., Donner K., Comi G. P., Nigro V., Hackman P., Udd B.

المساهمون: M. Johari, J. Sarparanta, A. Vihola, P.H. Jonson, M. Savarese, M. Jokela, A. Torella, G. Piluso, E. Said, N. Vella, M. Cauchi, A. Magot, F. Magri, E. Mauri, C. Kornblum, J. Reimann, T. Stojkovic, N.B. Romero, H. Luque, S. Huovinen, P. Lahermo, K. Donner, G.P. Comi, V. Nigro, P. Hackman, B. Udd

مصطلحات موضوعية: Amyloidogenesi, Distal myopathy, Proteinopathy, Stress granule, X-linked, Settore MED/26 - Neurologia

Relation: info:eu-repo/semantics/altIdentifier/pmid/33974137; info:eu-repo/semantics/altIdentifier/wos/WOS:000649212400001; volume:142; issue:2; firstpage:375; lastpage:393; numberofpages:19; journal:ACTA NEUROPATHOLOGICA; http://hdl.handle.net/2434/857385; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85105876006

الاتاحة: http://hdl.handle.net/2434/857385
https://doi.org/10.1007/s00401-021-02319-x

المؤلفون: Garibaldi M., Rendu J., Brocard J., Lacene E., Faure J., Brochier G., Beuvin M., Labasse C., Madelaine A., Malfatti E., Bevilacqua J. A., Lubieniecki F., Monges S., Taratuto A. L., Laporte J., Marty I., Antonini G., Romero N. B.

المساهمون: Garibaldi, M., Rendu, J., Brocard, J., Lacene, E., Faure, J., Brochier, G., Beuvin, M., Labasse, C., Madelaine, A., Malfatti, E., Bevilacqua, J. A., Lubieniecki, F., Monges, S., Taratuto, A. L., Laporte, J., Marty, I., Antonini, G., Romero, N. B.

مصطلحات موضوعية: entral core disease, centronuclear myopathy, congenital myopathy, dusty core disease, ryanodine receptor, RYR1 recessive, adolescent, adult, aged, biopsy, child, preschool, cohort studie, female, genes, recessive, human, infant, newborn, male, middle aged, muscle, skeletal, muscular disease, ryanodine receptor calcium release channel, young adult

Relation: info:eu-repo/semantics/altIdentifier/pmid/30611313; info:eu-repo/semantics/altIdentifier/wos/WOS:000454874500001; volume:7; issue:1; firstpage:3; journal:ACTA NEUROPATHOLOGICA COMMUNICATIONS; http://hdl.handle.net/11573/1410096; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85059499010

الاتاحة: http://hdl.handle.net/11573/1410096
https://doi.org/10.1186/s40478-018-0655-5

المؤلفون: Berling, E., Verebi, C., Venturelli, N., Vassilopoulos, S., Béhin, A., Tard, Celine, Michaud, M., Villar Quiles, R. N., Vicart, S., Masingue, M., Carlier, R. Y., Romero, N. B., Lacene, E., Leturcq, F., Eymard, B., Laforêt, P., Stojkovic, T.

المساهمون: Université de Lille, Inserm, CHU Lille, Lille Neurosciences & Cognition (LilNCog) - U 1172

مصطلحات موضوعية: CAV3, caveolin-3, muscle imaging, myopathy, rippling muscle disease

Relation: Eur J Neurol; http://hdl.handle.net/20.500.12210/101804

الاتاحة: https://hdl.handle.net/20.500.12210/101804

المؤلفون: Carrington, G., Hau, A., Kosta, S., Dugdale, H. F., Muntoni, F., D'Amico, A., van den Bergh, P., Romero, N. B., Malfatti, E., Vilchez, J. J., Oldfors, Anders, 1951, Pajusalu, S., Ounap, K., Giralt-Pujol, M., Zanoteli, E., Campbell, K. S., Iwamoto, H., Peckham, M., Ochala, J.

المصدر: JCI Insight. 8(21)

مصطلحات موضوعية: Biomedical Laboratory Science/Technology, Biomedicinsk laboratorievetenskap/teknologi

URL الوصول: https://gup.ub.gu.se/publication/332113

المؤلفون: Zorzato, Francesco, Treves, Susan Nella, Schartner, V., Romero, N. B., Donkervoort, S., Munot, P., Pierson, T. M., Dabaj, I., Malfatti, E., Zaharieva, I. T., Neto, O. A., Brochier, G., Lornage, X., Eymard, B., Taratuto, A. L., Böhm, J., Gonorazky, H., Ramos-Platt, L., Feng, L., Phadke, R., Bharucha-Goebel, D. X., Sumner, C. J., Bui, M. T., Lacene, E., Beuvin, M., Labasse, C., Dondaine, N., Schneider, R., Thompson, J., Boland, A., Deleuze, J. -F., Matthews, E., Pakleza, A. N., Sewry, C. A., Biancalana, V., Quijano-Roy, S., Muntoni, Francesco, Fardeau, M., Bönnemann C. G., Laporte, J.

المساهمون: Zorzato, Francesco, Treves, Susan Nella, Schartner, V., Romero, N. B., Donkervoort, S., Munot, P., Pierson, T. M., Dabaj, I., Malfatti, E., Zaharieva, I. T., Neto, O. A., Brochier, G., Lornage, X., Eymard, B., Taratuto, A. L., Böhm, J., Gonorazky, H., Ramos-Platt, L., Feng, L., Phadke, R., Bharucha-Goebel, D. X., Sumner, C. J., Bui, M. T., Lacene, E., Beuvin, M., Labasse, C., Dondaine, N., Schneider, R., Thompson, J., Boland, A., Deleuze, J. -F., Matthews, E., Pakleza, A. N., Sewry, C. A., Biancalana, V., Quijano-Roy, S., Muntoni, Francesco, Fardeau, M., Bönnemann, C. G., Laporte, J.

مصطلحات موضوعية: Centronuclear myopathy, Congenital myopathy, Core myopathy, DHPR, Excitation–contraction coupling, Myotubular myopathy, Triad

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/28012042; info:eu-repo/semantics/altIdentifier/wos/WOS:000397315500002; volume:133; issue:4; firstpage:517; lastpage:533; numberofpages:15; journal:ACTA NEUROPATHOLOGICA; http://hdl.handle.net/11392/2363523; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85007190235; https://link.springer.com/article/10.1007/s00401-016-1656-8; https://discovery.ucl.ac.uk/id/eprint/10051648/1/Matthews 161207DHPRmanuscript post revisions.pdf

الاتاحة: http://hdl.handle.net/11392/2363523
https://doi.org/10.1007/s00401-016-1656-8
https://link.springer.com/article/10.1007/s00401-016-1656-8
https://discovery.ucl.ac.uk/id/eprint/10051648/1/Matthews 161207DHPRmanuscript post revisions.pdf

المؤلفون: González Jamett, Arlek M., Báez Matus, Ximena, Bui, M., Guicheney, R., Romero, N. B., Caviedes Fernández, Pablo, Bitoun, M., Bevilacqua, Jorge, Cardenas, A.

المصدر: Neuromuscular Disorders

وصف الملف: application/pdf

Relation: Neuromuscular Disorders 27 (2017) S96–S249; https://repositorio.uchile.cl/handle/2250/148644

الاتاحة: https://doi.org/10.1016/j.nmd.2017.06.550
https://repositorio.uchile.cl/handle/2250/148644

المؤلفون: Bevilacqua, Jorge, Malfatti, E., Labasse, C., Brochier, G., Madelaine, A., Lacene, E., Rendu, J., Doray, B., de Monredon, J., Laforet, P., Eymard, B., Fardeau, M., Romero, N. B.

المصدر: Neuromuscular Disorders

وصف الملف: application/pdf

Relation: Neuromuscular Disorders 27 (2017) S96–S249; https://repositorio.uchile.cl/handle/2250/148700

الاتاحة: https://doi.org/10.1016/j.nmd.2017.06.326
https://repositorio.uchile.cl/handle/2250/148700

المؤلفون: Donkervoort, S., Kutzner, C. E., Hu, Y., Lornage, X., Rendu, J., Stojkovic, T., Baets, J., Neuhaus, S. B., Tanboon, J., Maroofian, R., Bolduc, V., Mroczek, M., Conijn, S., Kuntz, N. L., Topf, A., Monges, S., Lubieniecki, F., McCarty, R. M., Chao, K. R., Governali, S., Bohm, J., Boonyapisit, K., Malfatti, E., Sangruchi, T., Horkayne-Szakaly, I., Oldfors Hedberg, Carola, 1969, Efthymiou, S., Noguchi, S., Djeddi, S., Iida, A., di Rosa, G., Fiorillo, C., Salpietro, V., Darin, Niklas, 1964, Faure, J., Houlden, H., Oldfors, Anders, 1951, Nishino, I., de Ridder, W., Straub, V., Pokrzywa, W., Laporte, J., Foley, A. R., Romero, N. B., Ottenheijm, C., Hoppe, T., Bonnemann, C. G.

المصدر: American Journal of Human Genetics. 107(6):1078-1095

مصطلحات موضوعية: Microbiology in the Medical Area, Mikrobiologi inom det medicinska området, Genetics & Heredity

URL الوصول: https://gup.ub.gu.se/publication/301029

المؤلفون: Ochala, J., Gokhin, D. S., Penisson-Besnier, I., Quijano-Roy, S., Monnier, N., Lunardi, J., Romero, N. B., Fowler, V. M.

المصدر: Human Molecular Genetics ; volume 21, issue 20, page 4473-4485 ; ISSN 0964-6906 1460-2083

الاتاحة: https://doi.org/10.1093/hmg/dds289
http://academic.oup.com/hmg/article-pdf/21/20/4473/1854610/dds289.pdf

المؤلفون: Ávila-Polo, R., Malfatti, E., Lornage, X., Cheraud, C., Nelson, I., Nectoux, J., Böhm, J., Schneider, R., Oldfors Hedberg, Carola, 1969, Eymard, B., Monges, S., Lubieniecki, F., Brochier, G., Thao Bui, M., Madelaine, A., Labasse, C., Beuvin, M., Lacène, E., Boland, A., Deleuze, J. F., Thompson, J., Richard, I., Taratuto, A. L., Udd, B., Leturcq, F., Bonne, G., Oldfors, Anders, 1951, Laporte, J., Romero, N. B.

المصدر: Journal of Neuropathology and Experimental Neurology. 77(12):1101-1114

مصطلحات موضوعية: Cell and Molecular Biology, Cell- och molekylärbiologi

URL الوصول: https://gup.ub.gu.se/publication/273929

المؤلفون: Bitoun, M., Bevilacqua, Jorge, Eymard, B., Prudhon, B., Fardeau, M., Guicheney, P., Romero, N. B.

المصدر: Neurology

مصطلحات موضوعية: Neurology (clinical)

وصف الملف: application/pdf

Relation: Neurology, Volumen 72, Issue 1, 2018, Pages 93-95; https://repositorio.uchile.cl/handle/2250/162302

الاتاحة: https://doi.org/10.1212/01.wnl.0000338624.25852.12
https://repositorio.uchile.cl/handle/2250/162302

المؤلفون: Fischer, D., Romero, N. B.

المصدر: Brain ; volume 130, issue 2, page e64-e64 ; ISSN 0006-8950 1460-2156

مصطلحات موضوعية: Neurology (clinical)

الاتاحة: http://dx.doi.org/10.1093/brain/awl312
http://academic.oup.com/brain/article-pdf/130/2/e64/802219/awl312.pdf

المؤلفون: Guimarães‐Costa, R., Fernández‐Eulate, G., Wahbi, K., Leturcq, F., Malfatti, E., Behin, A., Leonard‐Louis, S., Desguerre, I., Barnerias, C., Nougues, M. C., Isapof, A., Estournet‐Mathiaud, B., Quijano‐Roy, S., Fayssoil, A., Orlikowski, D., Fauroux, B., Richard, I., Semplicini, C., Romero, N. B., Querin, G., Eymard, B., Laforêt, P., Stojkovic, T.

المصدر: European Journal of Neurology ; volume 28, issue 2, page 660-669 ; ISSN 1351-5101 1468-1331

الاتاحة: http://dx.doi.org/10.1111/ene.14592
https://onlinelibrary.wiley.com/doi/pdf/10.1111/ene.14592
https://onlinelibrary.wiley.com/doi/full-xml/10.1111/ene.14592

المؤلفون: Romero, N. B.

المصدر: Brain ; volume 126, issue 11, page 2341-2349 ; ISSN 1460-2156

الاتاحة: http://dx.doi.org/10.1093/brain/awg244
http://academic.oup.com/brain/article-pdf/126/11/2341/1127857/awg244.pdf

المؤلفون: Malfatti, E., Barnerias, C., Oldfors Hedberg, Carola, 1969, Gitiaux, C., Benezit, A., Oldfors, Anders, 1951, Carlier, R. Y., Quijano-Roy, S., Romero, N. B.

المصدر: Neuromuscular Disorders. 26(10):681-687

مصطلحات موضوعية: Clinical Medicine, Klinisk medicin, Branching enzyme deficiency, Glycogen storage disorders, Glycogenosis type IV, Metabolic myopathies, Polyglucosan

URL الوصول: https://gup.ub.gu.se/publication/247591

المؤلفون: Garibaldi, M, Fattori, F, RIVA, BEATRICE, Labasse, C, Brochier, G, Ottaviani, P, Sacconi, S, Vizzaccaro, E, Laschena, F, Romero, N. B, GENAZZANI, Armando, Bertini, E, Antonini, G.

المساهمون: Garibaldi, M, Fattori, F, Riva, Beatrice, Labasse, C, Brochier, G, Ottaviani, P, Sacconi, S, Vizzaccaro, E, Laschena, F, Romero, N. B, Genazzani, Armando, Bertini, E, Antonini, G.

مصطلحات موضوعية: CRAC channel, ORAI1, Stormorken syndrome, congenital miosi, muscle MRI, tubular aggregate myopathy

Relation: info:eu-repo/semantics/altIdentifier/pmid/27882542; info:eu-repo/semantics/altIdentifier/wos/WOS:000399353200016; volume:91; issue:5; firstpage:780; lastpage:786; numberofpages:7; journal:CLINICAL GENETICS; http://hdl.handle.net/11579/79373; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85005992199

الاتاحة: http://hdl.handle.net/11579/79373
https://doi.org/10.1111/cge.12888

المؤلفون: Witting, N, Laforêt, P, Voermans, N C, Roux-Buisson, N, Bompaire, F, Rendu, J, Duno, M, Feillet, F, Kamsteeg, E-J, Poulsen, N S, Dahlqvist, J R, Romero, N B, Fauré, J, Vissing, J, Behin, A

المصدر: Witting , N , Laforêt , P , Voermans , N C , Roux-Buisson , N , Bompaire , F , Rendu , J , Duno , M , Feillet , F , Kamsteeg , E-J , Poulsen , N S , Dahlqvist , J R , Romero , N B , Fauré , J , Vissing , J & Behin , A 2018 , ' Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis-myalgia syndrome ' , Acta Neurologica Scandinavica , vol. 137 , no. 5 , pp. 452-461 . https://doi.org/10.1111/ane.12885

مصطلحات موضوعية: Adolescent, Adult, Child, Denmark, Female, France, Genotype, Humans, Male, Middle Aged, Mutation, Myalgia/genetics, Netherlands, Phenotype, Rhabdomyolysis/genetics, Ryanodine Receptor Calcium Release Channel/genetics, Syndrome, Young Adult

الاتاحة: https://curis.ku.dk/portal/da/publications/phenotype-and-genotype-of-muscle-ryanodine-receptor-rhabdomyolysismyalgia-syndrome(23b18c84-136e-496e-97fb-e5416af8cb09).html
https://doi.org/10.1111/ane.12885