المؤلفون: R. K. J. Olsen, E. KoåˆaåTMã­kovã¡, T. A. Giancaspero, S. Mosegaard, V. Boczonadi, L. Matakoviä‡, A. Veauville Merllié, C. Terrile, T. Schwarzmayr, T. B. Haack, M. Auranen, P. Leone, M. Galluccio, A. Imbard, P. Gutierrez Rios, J. Palmfeldt, E. Graf, C. Vianey Saban, M. Oppenheim, M. Schiff, S. Pichard, O. Rigal, A. Pyle, P. F. Chinnery, V. Konstantopoulou, D. Mã¶slinger, R. G. Feichtinger, B. Talim, H. Topaloglu, T. Coskun, S. Gucer, A. Botta, E. Pegoraro, A. Malena, L. Vergani, D. Mazzã, M. Zollino, D. Ghezzi, C. Acquaviva, T. Tyni, A. Boneh, T. Meitinger, T. M. Strom, N. Gregersen, J. A. Mayr, R. Horvath, M. Barile, H. Prokisch

المساهمون: R.K.J. Olsen, E. KoåˆaåTMã­kovã¡, T.A. Giancaspero, S. Mosegaard, V. Boczonadi, L. Matakoviä‡, A. Veauville Merllié, C. Terrile, T. Schwarzmayr, T.B. Haack, M. Auranen, P. Leone, M. Galluccio, A. Imbard, P. Gutierrez Rio, J. Palmfeldt, E. Graf, C. Vianey Saban, M. Oppenheim, M. Schiff, S. Pichard, O. Rigal, A. Pyle, P.F. Chinnery, V. Konstantopoulou, D. Mã¶slinger, R.G. Feichtinger, B. Talim, H. Topaloglu, T. Coskun, S. Gucer, A. Botta, E. Pegoraro, A. Malena, L. Vergani, D. Mazzã, M. Zollino, D. Ghezzi, C. Acquaviva, T. Tyni, A. Boneh, T. Meitinger, T.M. Strom, N. Gregersen, J.A. Mayr, R. Horvath, M. Barile, H. Prokisch

مصطلحات موضوعية: adult, blotting, western, case-control studie, cells, cultured, electron transport, female, fibroblast, flavin-adenine dinucleotide, frameshift mutation, gene expression profiling, human, infant, newborn, liver, male, mitochondrial disease, multiple acyl coenzyme a dehydrogenase deficiency, muscle, skeletal, mutagenesis, site-directed, nucleotidyltransferase, protein binding, rna, messenger, real-time polymerase chain reaction, reverse transcriptase polymerase chain reaction, riboflavin

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27259049; info:eu-repo/semantics/altIdentifier/wos/WOS:000377286000008; volume:98; issue:6; firstpage:1130; lastpage:1145; numberofpages:16; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/2434/523684Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84971568098

الإتاحة: https://doi.org/10.1016/j.ajhg.2016.04.006Test
http://hdl.handle.net/2434/523684Test

المؤلفون: J. Morko, J. Vaaraniemi, A. Luostarinen, J. Lehtimaki, L. Honkanen, M. Auranen, Y. Konkol, H. Toyonaga, J.P. Rissanen

المصدر: Osteoarthritis and Cartilage. 30:S437-S438

مصطلحات موضوعية: Rheumatology, Biomedical Engineering, Orthopedics and Sports Medicine

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f69522b4e582a39863d5d33f1f89bc6cTest
https://doi.org/10.1016/j.joca.2022.02.600Test

المؤلفون: S. Mosegaard, T. A. Giancaspero, M. Galluccio, P. Leone, A. Boneh, M. Auranen, T. Tyni, L. Vergani, A. Malena, E. Pegoraro, A. Botta, E. Holzerová, h. Prokish, N. Gregersen, R. K. J. Olsen, Barile M.

المساهمون: S. Mosegaard, T.A. Giancaspero, M. Galluccio, P. Leone, A. Boneh, M. Auranen, T. Tyni, L. Vergani, A. Malena, E. Pegoraro, A. Botta, E. Holzerová, h. Prokish, N. Gregersen, R.K.J. Olsen, Barile M., Mosegaard, S., Giancaspero, T. A., Galluccio, M., Leone, P., Boneh, A., Auranen, M., Tyni, T., Vergani, L., Malena, A., Pegoraro, E., Botta, A., Holzerová, E., Prokish, H., Gregersen, N., Olsen, R. K. J., Barile, M.

العلاقة: ispartofbook:19th European Bioenergetics Conference (EBEC 2016, July 2 - 7, 2016, Riva del Garda (TN), Italy); 19th European Bioenergetics Conference (EBEC 2016); http://hdl.handle.net/11586/210620Test

الإتاحة: http://hdl.handle.net/11586/210620Test

المؤلفون: Brenda Banwell, Vern C. Juel, J. W. Mandell, M. Auranen, M. Fardeau, Berge A. Minassian, M. Rafii, Raeka S. Aiyar, M. Villanova, S. Alic, H. Kalimo

المصدر: Neurology. 59:596-601

مصطلحات موضوعية: Genetic Markers, Male, Candidate gene, X Chromosome, Adolescent, Genetic Linkage, DNA Mutational Analysis, Locus (genetics), Complement Membrane Attack Complex, Biology, Complete sequence, X-linked myopathy with excessive autophagy, Muscular Diseases, Autophagy, Humans, Child, Muscle, Skeletal, Gene, Finland, X chromosome, Genetics, Expressed sequence tag, Haplotype, Physical Chromosome Mapping, United States, Calcium, France, Neurology (clinical), Microsatellite Repeats

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d472a3553f54ce8c090a32ac36fe53faTest
https://doi.org/10.1212/wnl.59.4.596Test

المؤلفون: P, Hackman, V, Juvonen, J, Sarparanta, M, Penttinen, T, Aärimaa, M, Uusitalo, M, Auranen, H, Pihko, R, Alén, M, Junes, T, Lönnqvist, H, Kalimo, B, Udd

المصدر: Musclenerve. 31(2)

مصطلحات موضوعية: Adult, Male, Adolescent, Haplotypes, Muscular Dystrophies, Limb-Girdle, Sarcoglycans, Mutation, Confidence Intervals, Humans, Female, Child, Alleles, Finland

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::ca73ded4482c7b6e583dd889c8c07cedTest
https://pubmed.ncbi.nlm.nih.gov/15736300Test

المؤلفون: M, Auranen, R, Vanhala, I, Järvelä

المصدر: Duodecim; laaketieteellinen aikakauskirja. 116(20)

مصطلحات موضوعية: DNA-Binding Proteins, Repressor Proteins, X Chromosome, Chromosomal Proteins, Non-Histone, Genetic Linkage, Methyl-CpG-Binding Protein 2, Mutation, Rett Syndrome, Animals, Humans

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::98aeda1b807cef643bebb5ec927db6c8Test
https://pubmed.ncbi.nlm.nih.gov/12017623Test

المؤلفون: M, Auranen, M, Villanova, F, Muntoni, M, Fardeau, S W, Scherer, H, Kalino, B A, Minassian

المصدر: Annals of neurology. 47(5)

مصطلحات موضوعية: Adult, Male, X Chromosome, Adolescent, Haplotypes, Genetic Linkage, Vacuoles, Chromosome Mapping, Humans, Female, Microsatellite Repeats, Myopathies, Structural, Congenital, Pedigree

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::a363fd52a758bac40c34e848acc2353dTest
https://pubmed.ncbi.nlm.nih.gov/10805342Test

المؤلفون: H, Somer, M, Auranen

المصدر: Duodecim; laaketieteellinen aikakauskirja. 113(18)

مصطلحات موضوعية: Male, X Chromosome, Muscular Diseases, Mutation, Humans, Myotonic Dystrophy, Female, Muscular Dystrophies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::6a39fcc3d0342fa577e5e666061ef2faTest
https://pubmed.ncbi.nlm.nih.gov/10892072Test

المؤلفون: Mielke O., Bril V., Cornblath D. R., Lawo J. -P., van Geloven N., Hartung H. -P., Lewis R. A., Merkies I. S. J., Sobue G., Durn B., Shebl A., van Schaik I. N., Sabet A., George K., Roberts L., Carne R., Blum S., Henderson R., Van Damme P., Demeestere J., Larue S., D'Amour C., Kunc P., Valis M., Sussova J., Kalous T., Talab R., Bednar M., Toomsoo T., Rubanovits I., Gross-Paju K., Sorro U., Saarela M., Auranen M., Pouget J., Attarian S., Le Masson G., Wielanek-Bachelet A., Desnuelle C., Delmont E., Clavelou P., Aufauvre D., Schmidt J., Zschuentzsch J., Sommer C., Kramer D., Hoffmann O., Goerlitz C., Haas J., Chatzopoulos M., Yoon R., Gold R., Berlit P., Jaspert-Grehl A., Liebetanz D., Kutschenko A., Stangel M., Trebst C., Baum P., Bergh F., Klehmet J., Meisel A., Klostermann F., Oechtering J., Lehmann H., Schroeter M., Hagenacker T., Mueller D., Sperfeld A., Bethke F., Drory V., Algom A., Yarnitsky D., Murinson B., Di Muzio A., Ciccocioppo F., Sorbi S., Mata S., Schenone A., Grandis M., Lauria G., Cazzato D., Antonini G., Morino S., Cocito D., Zibetti M., Yokota T., Ohkubo T., Kanda T., Kawai M., Kaida K., Onoue H., Kuwabara S., Mori M., Iijima M., Ohyama K., Baba M., Tomiyama M., Nishiyama K., Akutsu T., Yokoyama K., Kanai K., Eftimov F., Notermans N. C., Visser N., Faber C., Hoeijmakers J., Rejdak K., Chyrchel-Paszkiewicz U., Casanovas Pons C., Antonia M., Gamez J., Salvado M., Infante C. M., Benitez S., Lunn M., Morrow J., Gosal D., Lavin T., Melamed I., Testori A., Ajroud-Driss S., Menichella D., Simpson E., Lai E. C. -H., Dimachkie M., Barohn R. J., Beydoun S., Johl H., Lange D., Shtilbans A., Muley S., Ladha S., Freimer M., Kissel J., Latov N., Chin R., Ubogu E., Mumfrey S., Rao T., MacDonald P., Sharma K., Gonzalez G., Allen J., Walk D., Hobson-Webb L., Gable K.

المساهمون: O. Mielke, V. Bril, D.R. Cornblath, J.-. Lawo, N. van Geloven, H.-. Hartung, R.A. Lewi, I.S.J. Merkie, G. Sobue, B. Durn, A. Shebl, I.N. van Schaik, A. Sabet, K. George, L. Robert, R. Carne, S. Blum, R. Henderson, P. Van Damme, J. Demeestere, S. Larue, C. D'Amour, P. Kunc, M. Vali, J. Sussova, T. Kalou, R. Talab, M. Bednar, T. Toomsoo, I. Rubanovit, K. Gross-Paju, U. Sorro, M. Saarela, M. Auranen, J. Pouget, S. Attarian, G. Le Masson, A. Wielanek-Bachelet, C. Desnuelle, E. Delmont, P. Clavelou, D. Aufauvre, J. Schmidt, J. Zschuentzsch, C. Sommer, D. Kramer, O. Hoffmann, C. Goerlitz, J. Haa, M. Chatzopoulo, R. Yoon, R. Gold, P. Berlit, A. Jaspert-Grehl, D. Liebetanz, A. Kutschenko, M. Stangel, C. Trebst, P. Baum, F. Bergh, J. Klehmet, A. Meisel, F. Klostermann, J. Oechtering, H. Lehmann, M. Schroeter, T. Hagenacker, D. Mueller, A. Sperfeld, F. Bethke, V. Drory, A. Algom, D. Yarnitsky, B. Murinson, A. Di Muzio, F. Ciccocioppo, S. Sorbi, S. Mata, A. Schenone, M. Grandi, G. Lauria, D. Cazzato, G. Antonini, S. Morino, D. Cocito, M. Zibetti, T. Yokota, T. Ohkubo, T. Kanda, M. Kawai, K. Kaida, H. Onoue, S. Kuwabara, M. Mori, M. Iijima, K. Ohyama, M. Baba, M. Tomiyama, K. Nishiyama, T. Akutsu

مصطلحات موضوعية: chronic inflammatory demyelinating polyneuropathy (CIDP), inflammatory neuropathy cause and treatment (INCAT), intravenous immunoglobulin (IVIG), polyneuropathy and treatment with Hizentra (PATH), Privigen, Settore MED/26 - Neurologia

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30672067; info:eu-repo/semantics/altIdentifier/wos/WOS:000461226700008; volume:24; issue:1; firstpage:72; lastpage:79; numberofpages:8; journal:JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM; http://hdl.handle.net/2434/728320Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85062531892

الإتاحة: https://doi.org/10.1111/jns.12303Test
http://hdl.handle.net/2434/728320Test

المؤلفون: van Schaik I. N., Mielke O., Sabet A., George K., Roberts L., Carne R., Blum S., Henderson R., Van Damme P., Demeestere J., Larue S., Pinard D'Amour C. A., Bril V., Breiner A., Kunc P., Valis M., Sussova J., Kalous T., Talab R., Bednar M., Toomsoo T., Rubanovits I., Gross-Paju K., Sorro U., Saarela M., Auranen M., Pouget J., Attarian S., Le Masson G., Wielanek-Bachelet A. -C., Desnuelle C., Delmont E., Clavelou P., Aufauvre D., Schmidt J., Zschuentssch J., Sommer C., Kramer D., Hoffmann O., Goerlitz C., Haas J., Chatzopoulos M., Yoon M. S., Gold R., Berlit P., Jaspert-Grehl A., Liebetanz D., Kutschenko A., Stangel M., Trebst C., Baum P., Then Bergh F., Klehmet J., Meisel A., Klostermann F., Oechtering J., Lehmann H., Schroeter M., Hagenacker T., Mueller D., Sperfeld A. D., Bethke F., Hartung H. P., Drory V., Algom A., Yarnitsky D., Murinson B. B., Di Muzio A., Ciccocioppo F., Sorbi S., Mata S., Schenone A., Grandis M., Lauria G., Cazzato D., Antonini G., Morino S., Cocito D., Zibetti M., Yokota T., Ohkubo T., Kanda T., Kawai M., Kaida K., Onoue H., Kuwabara S., Mori M., Iijima M., Ohyama K., Sobue G., Baba M., Tomiyama M., Nishiyama K., Akutsu T., Yokoyama K., Kanai K., Eftimov F., Notermans N. C., Visser N. A., Faber C., Hoeijmakers J. G. J., Merkies I. S. J., van Geloven N., Rejdak K., Chyrchel-Paszkiewicz U., Casanovas Pons C., Alberti Aguilo M. A., Gamez J., Figueras M., Marquez Infante C., Benitez Rivero S., Lunn M., Morrow J., Gosal D., Lavin T. M., Melamed I., Testori A., Ajroud-Driss S., Menichella D., Simpson E., Chi-Ho Lai E., Dimachkie M., Barohn R. J., Beydoun S., Johl H., Lange D., Shtilbans A., Muley S., Ladha S., Freimer M., Kissel J., Latov N., Chin R., Ubogu E., Mumfrey S., Rao T. H. P., MacDonald P., Sharma K., Gonzalez G., Allen J., Walk D., Hobson-Webb L., Gable K., Lewis R. A., Cornblath D. R., Lawo J. P., Praus M., Durn B. L.

المساهمون: I.N. van Schaik, O. Mielke, A. Sabet, K. George, L. Robert, R. Carne, S. Blum, R. Henderson, P. Van Damme, J. Demeestere, S. Larue, C.A. Pinard D'Amour, V. Bril, A. Breiner, P. Kunc, M. Vali, J. Sussova, T. Kalou, R. Talab, M. Bednar, T. Toomsoo, I. Rubanovit, K. Gross-Paju, U. Sorro, M. Saarela, M. Auranen, J. Pouget, S. Attarian, G. Le Masson, A.-. Wielanek-Bachelet, C. Desnuelle, E. Delmont, P. Clavelou, D. Aufauvre, J. Schmidt, J. Zschuentssch, C. Sommer, D. Kramer, O. Hoffmann, C. Goerlitz, J. Haa, M. Chatzopoulo, M.S. Yoon, R. Gold, P. Berlit, A. Jaspert-Grehl, D. Liebetanz, A. Kutschenko, M. Stangel, C. Trebst, P. Baum, F. Then Bergh, J. Klehmet, A. Meisel, F. Klostermann, J. Oechtering, H. Lehmann, M. Schroeter, T. Hagenacker, D. Mueller, A.D. Sperfeld, F. Bethke, H.P. Hartung, V. Drory, A. Algom, D. Yarnitsky, B.B. Murinson, A. Di Muzio, F. Ciccocioppo, S. Sorbi, S. Mata, A. Schenone, M. Grandi, G. Lauria, D. Cazzato, G. Antonini, S. Morino, D. Cocito, M. Zibetti, T. Yokota, T. Ohkubo, T. Kanda, M. Kawai, K. Kaida, H. Onoue, S. Kuwabara, M. Mori, M. Iijima, K. Ohyama, G. Sobue, M. Baba, M. Tomiyama, K. Nishiyama, T. Akutsu, K. Yokoyama, K. Kanai, F. Eftimov, N.C. Noterman, N.A. Visser

مصطلحات موضوعية: Settore MED/26 - Neurologia

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29656738; info:eu-repo/semantics/altIdentifier/wos/WOS:000429968100011; volume:17; issue:5; firstpage:393; lastpage:394; numberofpages:2; journal:LANCET NEUROLOGY; http://hdl.handle.net/2434/685082Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85045288528

الإتاحة: https://doi.org/10.1016/S1474-4422Test(18)30109-1
http://hdl.handle.net/2434/685082Test