Cargando…
Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BMJ Publishing Group
2019
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6581110/ https://www.ncbi.nlm.nih.gov/pubmed/29921608 http://dx.doi.org/10.1136/jnnp-2018-318288 |
| _version_ | 1783428136680030208 |
|---|---|
| author | Johnson, Katherine De Ridder, Willem Töpf, Ana Bertoli, Marta Phillips, Lauren De Jonghe, Peter Baets, Jonathan Deconinck, Tine Rakocevic Stojanovic, Vidosava Perić, Stojan Durmus, Hacer Jamal-Omidi, Shirin Nafissi, Shahriar Mongini, Tiziana Łusakowska, Anna Busby, Mark Miller, James Norwood, Fiona Hudson, Judith Barresi, Rita Lek, Monkol MacArthur, Daniel G Straub, Volker |
| author_facet | Johnson, Katherine De Ridder, Willem Töpf, Ana Bertoli, Marta Phillips, Lauren De Jonghe, Peter Baets, Jonathan Deconinck, Tine Rakocevic Stojanovic, Vidosava Perić, Stojan Durmus, Hacer Jamal-Omidi, Shirin Nafissi, Shahriar Mongini, Tiziana Łusakowska, Anna Busby, Mark Miller, James Norwood, Fiona Hudson, Judith Barresi, Rita Lek, Monkol MacArthur, Daniel G Straub, Volker |
| author_sort | Johnson, Katherine |
| collection | PubMed |
| description | |
| format | Online Article Text |
| id | pubmed-6581110 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2019 |
| publisher | BMJ Publishing Group |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-65811102019-07-05 Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population Johnson, Katherine De Ridder, Willem Töpf, Ana Bertoli, Marta Phillips, Lauren De Jonghe, Peter Baets, Jonathan Deconinck, Tine Rakocevic Stojanovic, Vidosava Perić, Stojan Durmus, Hacer Jamal-Omidi, Shirin Nafissi, Shahriar Mongini, Tiziana Łusakowska, Anna Busby, Mark Miller, James Norwood, Fiona Hudson, Judith Barresi, Rita Lek, Monkol MacArthur, Daniel G Straub, Volker J Neurol Neurosurg Psychiatry PostScript BMJ Publishing Group 2019-04 2018-06-19 /pmc/articles/PMC6581110/ /pubmed/29921608 http://dx.doi.org/10.1136/jnnp-2018-318288 Text en © Author(s) (or their employer(s)) 2019. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/. |
| spellingShingle | PostScript Johnson, Katherine De Ridder, Willem Töpf, Ana Bertoli, Marta Phillips, Lauren De Jonghe, Peter Baets, Jonathan Deconinck, Tine Rakocevic Stojanovic, Vidosava Perić, Stojan Durmus, Hacer Jamal-Omidi, Shirin Nafissi, Shahriar Mongini, Tiziana Łusakowska, Anna Busby, Mark Miller, James Norwood, Fiona Hudson, Judith Barresi, Rita Lek, Monkol MacArthur, Daniel G Straub, Volker Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population |
| title | Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population |
| title_full | Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population |
| title_fullStr | Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population |
| title_full_unstemmed | Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population |
| title_short | Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population |
| title_sort | extending the clinical and mutational spectrum of trim32-related myopathies in a non-hutterite population |
| topic | PostScript |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6581110/ https://www.ncbi.nlm.nih.gov/pubmed/29921608 http://dx.doi.org/10.1136/jnnp-2018-318288 |
| work_keys_str_mv | AT johnsonkatherine extendingtheclinicalandmutationalspectrumoftrim32relatedmyopathiesinanonhutteritepopulation AT deridderwillem extendingtheclinicalandmutationalspectrumoftrim32relatedmyopathiesinanonhutteritepopulation AT topfana extendingtheclinicalandmutationalspectrumoftrim32relatedmyopathiesinanonhutteritepopulation AT bertolimarta extendingtheclinicalandmutationalspectrumoftrim32relatedmyopathiesinanonhutteritepopulation AT phillipslauren extendingtheclinicalandmutationalspectrumoftrim32relatedmyopathiesinanonhutteritepopulation AT dejonghepeter extendingtheclinicalandmutationalspectrumoftrim32relatedmyopathiesinanonhutteritepopulation AT baetsjonathan extendingtheclinicalandmutationalspectrumoftrim32relatedmyopathiesinanonhutteritepopulation AT deconincktine extendingtheclinicalandmutationalspectrumoftrim32relatedmyopathiesinanonhutteritepopulation AT rakocevicstojanovicvidosava extendingtheclinicalandmutationalspectrumoftrim32relatedmyopathiesinanonhutteritepopulation AT pericstojan extendingtheclinicalandmutationalspectrumoftrim32relatedmyopathiesinanonhutteritepopulation AT durmushacer extendingtheclinicalandmutationalspectrumoftrim32relatedmyopathiesinanonhutteritepopulation AT jamalomidishirin extendingtheclinicalandmutationalspectrumoftrim32relatedmyopathiesinanonhutteritepopulation AT nafissishahriar extendingtheclinicalandmutationalspectrumoftrim32relatedmyopathiesinanonhutteritepopulation AT monginitiziana extendingtheclinicalandmutationalspectrumoftrim32relatedmyopathiesinanonhutteritepopulation AT łusakowskaanna extendingtheclinicalandmutationalspectrumoftrim32relatedmyopathiesinanonhutteritepopulation AT busbymark extendingtheclinicalandmutationalspectrumoftrim32relatedmyopathiesinanonhutteritepopulation AT millerjames extendingtheclinicalandmutationalspectrumoftrim32relatedmyopathiesinanonhutteritepopulation AT norwoodfiona extendingtheclinicalandmutationalspectrumoftrim32relatedmyopathiesinanonhutteritepopulation AT hudsonjudith extendingtheclinicalandmutationalspectrumoftrim32relatedmyopathiesinanonhutteritepopulation AT barresirita extendingtheclinicalandmutationalspectrumoftrim32relatedmyopathiesinanonhutteritepopulation AT lekmonkol extendingtheclinicalandmutationalspectrumoftrim32relatedmyopathiesinanonhutteritepopulation AT macarthurdanielg extendingtheclinicalandmutationalspectrumoftrim32relatedmyopathiesinanonhutteritepopulation AT straubvolker extendingtheclinicalandmutationalspectrumoftrim32relatedmyopathiesinanonhutteritepopulation |