المؤلفون: Stenton, Sarah L, Tesarova, Marketa, Sheremet, Natalia L, Catarino, Claudia, Carelli, Valerio, Ciara, Elżbieta, Curry, Kathryn, Engvall, Martin, Fleming, Leah R, Freisinger, Peter, Iwanicka-Pronicka, Katarzyna, Jurkiewicz, Elżbieta, Klopstock, Thomas, Koenig, Mary K, Kolářová, Hana, Kousal, Bohdan, Krylova, Tatiana, La Morgia, Chiara, Nosková, Lenka, Piekutowska-Abramczuk, Dorota, Russo, Sam N, Stránecký, Viktor, Tóthová, Iveta, Träisk, Frank, Prokisch, Holger

المساهمون: Stenton, Sarah L, Tesarova, Marketa, Sheremet, Natalia L, Catarino, Claudia, Carelli, Valerio, Ciara, Elżbieta, Curry, Kathryn, Engvall, Martin, Fleming, Leah R, Freisinger, Peter, Iwanicka-Pronicka, Katarzyna, Jurkiewicz, Elżbieta, Klopstock, Thoma, Koenig, Mary K, Kolářová, Hana, Kousal, Bohdan, Krylova, Tatiana, La Morgia, Chiara, Nosková, Lenka, Piekutowska-Abramczuk, Dorota, Russo, Sam N, Stránecký, Viktor, Tóthová, Iveta, Träisk, Frank, Prokisch, Holger

مصطلحات موضوعية: DNAJC30, LHON, Leigh syndrome, mitochondrial disease

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/35148383; info:eu-repo/semantics/altIdentifier/wos/WOS:000790918400001; volume:145; issue:5; firstpage:1624; lastpage:1631; numberofpages:8; journal:BRAIN; https://hdl.handle.net/11585/902719; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85131702062; https://academic.oup.com/brain/article/145/5/1624/6527177?login=true

الاتاحة: https://hdl.handle.net/11585/902719
https://doi.org/10.1093/brain/awac052
https://academic.oup.com/brain/article/145/5/1624/6527177?login=true

المؤلفون: Langley, Elizabeth, Farach, Laura S., Koenig, Mary K., Northrup, Hope, Rodriguez‐Buritica, David F., Mowrey, Kate

المصدر: American Journal of Medical Genetics Part A ; volume 188, issue 6, page 1688-1692 ; ISSN 1552-4825 1552-4833

الاتاحة: http://dx.doi.org/10.1002/ajmg.a.62686
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62686
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/ajmg.a.62686

المؤلفون: Mendes, Marisa I., Green, Lydia M.C., Bertini, Enrico, Tonduti, Davide, Aiello, Chiara, Smith, Desiree, Salsano, Ettore, Beerepoot, Shanice, Hertecant, Jozef, von Spiczak, Sarah, Livingston, John H., Emrick, Lisa, Fraser, Jamie, Russell, Laura, Bernard, Genevieve, Magri, Stefania, Di Bella, Daniela, Taroni, Franco, Koenig, Mary K., Moroni, Isabella, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Rhee, Jullie, Mendelsohn, Bryce A., Helbig, Ingo, Helbig, Katherine, Muhle, Hiltrud, Ismayl, Omar, Vanderver, Adeline L., Salomons, Gajja S., van der Knaap, Marjo S., Wolf, Nicole I.

المصدر: Mendes , M I , Green , L M C , Bertini , E , Tonduti , D , Aiello , C , Smith , D , Salsano , E , Beerepoot , S , Hertecant , J , von Spiczak , S , Livingston , J H , Emrick , L , Fraser , J , Russell , L , Bernard , G , Magri , S , Di Bella , D , Taroni , F , Koenig , M K , Moroni , I , Cappuccio , G , Brunetti-Pierri , N , Rhee , J , ....

مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being

الاتاحة: https://research.vu.nl/en/publications/dbfdd5d8-4938-4652-8b34-28964f565c58
https://doi.org/10.1002/acn3.50960
https://hdl.handle.net/1871.1/dbfdd5d8-4938-4652-8b34-28964f565c58
http://www.scopus.com/inward/record.url?scp=85076356830&partnerID=8YFLogxK
http://www.scopus.com/inward/citedby.url?scp=85076356830&partnerID=8YFLogxK

المؤلفون: Mao, Dongxue, Reuter, Chloe M., Ruzhnikov, Maura R.Z., Beck, Anita E., Farrow, Emily G., Emrick, Lisa T., Rosenfeld, Jill A., Mackenzie, Katherine M., Robak, Laurie, Wheeler, Matthew T., Burrage, Lindsay C., Jain, Mahim, Liu, Pengfei, Calame, Daniel, Küry, Sébastien, Sillesen, Martin, Schmitz-Abe, Klaus, Tonduti, Davide, Spaccini, Luigina, Iascone, Maria, Genetti, Casie A., Koenig, Mary K., Graf, Madeline, Tran, Alyssa, Alejandro, Mercedes, Lee, Brendan H., Thiffault, Isabelle, Agrawal, Pankaj B., Bernstein, Jonathan A., Bellen, Hugo J., Chao, Hsiao-Tuan, Acosta, Maria T., Adam, Margaret, Adams, David R., Alejandro, Mercedes E., Allard, Patrick, Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Azamian, Mahshid S., Bacino, Carlos A., Bademci, Guney, Baker, Eva, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah

المساهمون: NIH Common Fund, NIH, National Human Genome Research Institute, Common Fund, Office of the Director, NIH, American Academy of Neurology, Child Neurology Foundation, Burroughs Wellcome Fund, McNair Medical Institute at The Robert and Janice McNair Foundation, National Eye Institute, National Heart, Lung, and Blood Institute

المصدر: The American Journal of Human Genetics ; volume 106, issue 4, page 570-583 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2020.02.016
https://api.elsevier.com/content/article/PII:S0002929720300768?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929720300768?httpAccept=text/plain

المؤلفون: Rius, Rocio, Van Bergen, Nicole J., Compton, Alison G, Riley, Lisa G, Kava, Maina P., Balasubramaniam, Shanti, Amor, David J, Fanjul-Fernández, Miriam, Cowley, Mark J, Fahey, Michael C, Koenig , Mary K., Enns, Gregory M., Sadedin, Simon P., Wilson, Meredith J., Tan, Tiong Y, Thorburn, David Ross, Christodoulou, John

المصدر: Rius , R , Van Bergen , N J , Compton , A G , Riley , L G , Kava , M P , Balasubramaniam , S , Amor , D J , Fanjul-Fernández , M , Cowley , M J , Fahey , M C , Koenig , M K , Enns , G M , Sadedin , S P , Wilson , M J , Tan , T Y , Thorburn , D R & Christodoulou , J 2019 , ' Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants ' , Journal of ....

مصطلحات موضوعية: Interferon, Mitochondrial, mutation, NPPase, OXPHOS, PNPT1, Respiratory chain, Splice defect

وصف الملف: application/pdf

Relation: https://research.monash.edu/en/publications/e73facc1-476a-4ef6-a8fd-753e657c8657

الاتاحة: https://research.monash.edu/en/publications/e73facc1-476a-4ef6-a8fd-753e657c8657
https://doi.org/10.3390/jcm8112020
https://researchmgt.monash.edu/ws/files/319667896/290708517_oa.pdf
http://www.scopus.com/inward/record.url?scp=85087337396&partnerID=8YFLogxK

المؤلفون: Wangler, Michael F, Assia Batzir, Nurit, Robak, Laurie A, Koenig, Mary K, Bacino, Carlos A, Scaglia, Fernando, Bellen, Hugo J

المصدر: Brain ; volume 141, issue 4, page e28-e28 ; ISSN 0006-8950 1460-2156

مصطلحات موضوعية: Neurology (clinical)

الاتاحة: http://dx.doi.org/10.1093/brain/awy024
http://academic.oup.com/brain/article-pdf/141/4/e28/24497719/awy024.pdf

المؤلفون: Crowell, Eric L., Pfeiffer, Margaret L., Kamdar, Ankur A., Koenig, Mary K., Wittenberg, Susan E., Supsupin, Emilio P., Adesina, Ore-ofe O.

المساهمون: Hermann Eye Fund

المصدر: Ocular Immunology and Inflammation ; volume 27, issue 6, page 912-917 ; ISSN 0927-3948 1744-5078

الاتاحة: http://dx.doi.org/10.1080/09273948.2018.1449865
https://www.tandfonline.com/doi/pdf/10.1080/09273948.2018.1449865

المؤلفون: Krueger, Darcy A., Capal, Jamie K., Curatolo, Paolo, Devinsky, Orrin, Ess, Kevin, Tzadok, Michal, Koenig, Mary K., Narayanan, Vinodh, Ramos, Federico, Jozwiak, Sergiusz, de Vries, Petrus, Jansen, Anna C., Wong, Michael, Mowat, David, Lawson, John, Bruns, Stephanie, Franz, David Neal

المساهمون: National Institute of Neurological Disorders and Stroke, National Center for Translational Science, Department of Defense Congressionally Director Research Program, Department of Defense, European Community’s Seventh Framework Programme, EPISTOP, Polish National Center for Research and Development, National Institutes of Health

المصدر: European Journal of Paediatric Neurology ; volume 22, issue 6, page 1066-1073 ; ISSN 1090-3798

الاتاحة: http://dx.doi.org/10.1016/j.ejpn.2018.06.007
https://api.elsevier.com/content/article/PII:S1090379817319694?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1090379817319694?httpAccept=text/plain

المؤلفون: Chao, Yu-Hsin, Robak, Laurie A., Xia, Fan, Koenig, Mary K., Adesina, Adekunle, Bacino, Carlos A., Scaglia, Fernando, Bellen, Hugo J., Wangler, Michael F.

مصطلحات موضوعية: Articles

وصف الملف: text/html

Relation: http://hmg.oxfordjournals.org/cgi/content/short/25/9/1846; http://dx.doi.org/10.1093/hmg/ddw059

الاتاحة: http://hmg.oxfordjournals.org/cgi/content/short/25/9/1846
https://doi.org/10.1093/hmg/ddw059

المؤلفون: Rosenfeld, Jill A., Xiao, Rui, Bekheirnia, Mir Reza, Kanani, Farah, Parker, Michael J., Koenig, Mary K., van Haeringen, Arie, Ruivenkamp, Claudia, Rosmaninho‐Salgado, Joana, Almeida, Pedro M., Sá, Joaquim, Pinto Basto, Jorge, Palen, Emily, Oetjens, Kathryn F., Burrage, Lindsay C., Xia, Fan, Liu, Pengfei, Eng, Christine M., Yang, Yaping, Posey, Jennifer E., Lee, Brendan H.

المساهمون: Eunice Kennedy Shriver National Institute of Child Health and Human Development, Wellcome, NIH Office of the Director, Office of Strategic Coordination, NIH

المصدر: American Journal of Medical Genetics Part A ; volume 185, issue 7, page 2037-2045 ; ISSN 1552-4825 1552-4833

الاتاحة: http://dx.doi.org/10.1002/ajmg.a.62201
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62201
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/ajmg.a.62201

المؤلفون: Vahdat, Khashayar K., Ilias-Basha, Haseeb, Tung, Poyee P., Memon, Nada B., Hall, Andrea C., Koenig, Mary K., Meyers, Deborah E.

المصدر: Journal of Cardiology Cases ; volume 6, issue 2, page e35-e38 ; ISSN 1878-5409

الاتاحة: http://dx.doi.org/10.1016/j.jccase.2012.04.002
https://api.elsevier.com/content/article/PII:S1878540912000308?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1878540912000308?httpAccept=text/plain

المؤلفون: Madsen, Karen L., Buch, Astrid E., Cohen, Bruce H., Falk, Marni J., Goldsberry, Angela, Goldstein, Amy, Karaa, Amel, Koenig, Mary K., Muraresku, Colleen C., Meyer, Colin, O'Grady, Megan, Scaglia, Fernando, Shieh, Perry B., Vockley, Jerry, Zolkipli-Cunningham, Zarazuela, Haller, Ronald G., Vissing, John

المصدر: Madsen , K L , Buch , A E , Cohen , B H , Falk , M J , Goldsberry , A , Goldstein , A , Karaa , A , Koenig , M K , Muraresku , C C , Meyer , C , O'Grady , M , Scaglia , F , Shieh , P B , Vockley , J , Zolkipli-Cunningham , Z , Haller , R G & Vissing , J 2020 , ' Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy : MOTOR trial ' , Neurology , vol. 94 , no. ....

الاتاحة: https://researchprofiles.ku.dk/da/publications/safety-and-efficacy-of-omaveloxolone-in-patients-with-mitochondrial-myopathy(274dc787-36cb-4fc1-8c4d-8ad2d79383d0).html
https://doi.org/10.1212/WNL.0000000000008861

المؤلفون: Stenton, Sarah L., Tesarova, Marketa, Sheremet, Natalia L., Catarino, Claudia B., Carelli, Valerio, Ciara, Elżbieta, Curry, Kathryn, Engvall, Martin, Fleming, Leah R., Freisinger, Peter, Iwanicka-Pronicka, Katarzyna, Jurkiewicz, Elżbieta, Klopstock, Thomas, Koenig, Mary K., Kolářová, Hana, Kousal, Bohdan, Krylova, Tatiana, Morgia, Chiara La, Nosková, Lenka, Piekutowska-Abramczuk, Dorota

المصدر: Brain: A Journal of Neurology; May2022, Vol. 145 Issue 5, p1624-1631, 8p

مصطلحات موضوعية: RESEARCH, GENETIC mutation, DNA, OPTIC nerve diseases, RESEARCH methodology, GENETIC disorders, EVALUATION research, COMPARATIVE studies, LEIGH disease

المؤلفون: Scott, Tiana M., Guo, Hui, Eichler, Evan E., Rosenfeld, Jill A., Pang, Kaifang, Liu, Zhandong, Lalani, Seema, Bi, Weimin, Yang, Yaping, Bacino, Carlos A., Streff, Haley, Lewis, Andrea M., Koenig, Mary K., Thiffault, Isabelle, Bellomo, Allison, Everman, David B., Jones, Julie R., Stevenson, Roger E., Bernier, Raphael, Gilissen, Christian

المصدر: Human Mutation; May2020, Vol. 41 Issue 5, p921-925, 5p

المؤلفون: Parikh, Sumit, Karaa, Amel, Goldstein, Amy, Ng, Yi S., Gorman, Grainne, Feigenbaum, Annette, Christodoulou, John, Haas, Richard, Tarnopolsky, Mark, Cohen, Bruce K., Dimmock, David, Feyma, Tim, Koenig, Mary K., Mundy, Helen, Niyazov, Dmitriy, Saneto, Russell P., Wainwright, Mark S., Wusthoff, Courtney, McFarland, Robert, Scaglia, Fernando

المصدر: Molecular Genetics and Metabolism ; volume 118, issue 3, page 178-184 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2016.04.009
https://api.elsevier.com/content/article/PII:S109671921630052X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S109671921630052X?httpAccept=text/plain