MEANS AND METHODS FOR TREATING FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY (FSHD)
Title: Means and methods for treating facioscapulohumeral muscular dystrophy (FSHD). The invention is related to facioscapulohumeral muscular dystrophy (FSHD) and in particular therapeutic means and methods for the treatment of the disease. In one aspect the invention provides a composition for use...
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| creator | LEMMERS, Richard Joannes Leonardus Franciscus BALOG, Judit TAPSCOTT, Stephen Justice VAN DER MAAREL, Silvere Maria TAWIL, Alrabi |
| description | Title: Means and methods for treating facioscapulohumeral muscular dystrophy (FSHD). The invention is related to facioscapulohumeral muscular dystrophy (FSHD) and in particular therapeutic means and methods for the treatment of the disease. In one aspect the invention provides a composition for use in the treatment of a subject that has FSHD which composition comprises a therapeutically effective amount of a substance which increases the level and/or activity of a protein encoded by a structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1) gene in cells of the subject. The invention also provides means and methods for typing FSHD.
Moyens et méthodes de traitement de la dystrophie musculaire facio-scapulo-humérale (FSHD) L'invention concerne la dystrophie musculaire facio-scapulo-humérale (FSHD), et en particulier des moyens et des méthodes thérapeutiques de traitement de la maladie. Selon un aspect, l'invention concerne une composition destinée à être utilisée pour traiter un patient souffrant d'une FSHD, laquelle composition comprend une quantité thérapeutiquement efficace d'une substance qui augmente le niveau et/ou l'activité d'une protéine codée par un gène SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1) dans des cellules du patient. L'invention concerne également des moyens et des méthodes de typage de la FSHD. |
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Moyens et méthodes de traitement de la dystrophie musculaire facio-scapulo-humérale (FSHD) L'invention concerne la dystrophie musculaire facio-scapulo-humérale (FSHD), et en particulier des moyens et des méthodes thérapeutiques de traitement de la maladie. Selon un aspect, l'invention concerne une composition destinée à être utilisée pour traiter un patient souffrant d'une FSHD, laquelle composition comprend une quantité thérapeutiquement efficace d'une substance qui augmente le niveau et/ou l'activité d'une protéine codée par un gène SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1) dans des cellules du patient. L'invention concerne également des moyens et des méthodes de typage de la FSHD.</description><language>eng ; fre</language><subject>HUMAN NECESSITIES ; HYGIENE ; MEDICAL OR VETERINARY SCIENCE ; PREPARATIONS FOR MEDICAL, DENTAL, OR TOILET PURPOSES ; SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS ORMEDICINAL PREPARATIONS</subject><creationdate>2016</creationdate><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://worldwide.espacenet.com/publicationDetails/biblio?FT=D&date=20161208&DB=EPODOC&CC=WO&NR=2016195493A1$$EHTML$$P50$$Gepo$$Hfree_for_read</linktohtml><link.rule.ids>230,308,776,881,25543,76293</link.rule.ids><linktorsrc>$$Uhttps://worldwide.espacenet.com/publicationDetails/biblio?FT=D&date=20161208&DB=EPODOC&CC=WO&NR=2016195493A1$$EView_record_in_European_Patent_Office$$FView_record_in_$$GEuropean_Patent_Office$$Hfree_for_read</linktorsrc></links><search><creatorcontrib>LEMMERS, Richard Joannes Leonardus Franciscus</creatorcontrib><creatorcontrib>BALOG, Judit</creatorcontrib><creatorcontrib>TAPSCOTT, Stephen Justice</creatorcontrib><creatorcontrib>VAN DER MAAREL, Silvere Maria</creatorcontrib><creatorcontrib>TAWIL, Alrabi</creatorcontrib><title>MEANS AND METHODS FOR TREATING FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY (FSHD)</title><description>Title: Means and methods for treating facioscapulohumeral muscular dystrophy (FSHD). The invention is related to facioscapulohumeral muscular dystrophy (FSHD) and in particular therapeutic means and methods for the treatment of the disease. In one aspect the invention provides a composition for use in the treatment of a subject that has FSHD which composition comprises a therapeutically effective amount of a substance which increases the level and/or activity of a protein encoded by a structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1) gene in cells of the subject. The invention also provides means and methods for typing FSHD.
Moyens et méthodes de traitement de la dystrophie musculaire facio-scapulo-humérale (FSHD) L'invention concerne la dystrophie musculaire facio-scapulo-humérale (FSHD), et en particulier des moyens et des méthodes thérapeutiques de traitement de la maladie. Selon un aspect, l'invention concerne une composition destinée à être utilisée pour traiter un patient souffrant d'une FSHD, laquelle composition comprend une quantité thérapeutiquement efficace d'une substance qui augmente le niveau et/ou l'activité d'une protéine codée par un gène SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1) dans des cellules du patient. L'invention concerne également des moyens et des méthodes de typage de la FSHD.</description><subject>HUMAN NECESSITIES</subject><subject>HYGIENE</subject><subject>MEDICAL OR VETERINARY SCIENCE</subject><subject>PREPARATIONS FOR MEDICAL, DENTAL, OR TOILET PURPOSES</subject><subject>SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS ORMEDICINAL PREPARATIONS</subject><fulltext>true</fulltext><rsrctype>patent</rsrctype><creationdate>2016</creationdate><recordtype>patent</recordtype><sourceid>EVB</sourceid><recordid>eNrjZPDxdXX0C1Zw9HNR8HUN8fB3CVZw8w9SCAlydQzx9HNXcHN09vQPdnYMCPXx9wj1dQ1y9FHwDQ12DvVxDFJwiQwOCfIP8IhU0HAL9nDR5GFgTUvMKU7lhdLcDMpuriHOHrqpBfnxqcUFicmpeakl8eH-RgaGZoaWpiaWxo6GxsSpAgCCCi8S</recordid><startdate>20161208</startdate><enddate>20161208</enddate><creator>LEMMERS, Richard Joannes Leonardus Franciscus</creator><creator>BALOG, Judit</creator><creator>TAPSCOTT, Stephen Justice</creator><creator>VAN DER MAAREL, Silvere Maria</creator><creator>TAWIL, Alrabi</creator><scope>EVB</scope></search><sort><creationdate>20161208</creationdate><title>MEANS AND METHODS FOR TREATING FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY (FSHD)</title><author>LEMMERS, Richard Joannes Leonardus Franciscus ; BALOG, Judit ; TAPSCOTT, Stephen Justice ; VAN DER MAAREL, Silvere Maria ; TAWIL, Alrabi</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-epo_espacenet_WO2016195493A13</frbrgroupid><rsrctype>patents</rsrctype><prefilter>patents</prefilter><language>eng ; fre</language><creationdate>2016</creationdate><topic>HUMAN NECESSITIES</topic><topic>HYGIENE</topic><topic>MEDICAL OR VETERINARY SCIENCE</topic><topic>PREPARATIONS FOR MEDICAL, DENTAL, OR TOILET PURPOSES</topic><topic>SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS ORMEDICINAL PREPARATIONS</topic><toplevel>online_resources</toplevel><creatorcontrib>LEMMERS, Richard Joannes Leonardus Franciscus</creatorcontrib><creatorcontrib>BALOG, Judit</creatorcontrib><creatorcontrib>TAPSCOTT, Stephen Justice</creatorcontrib><creatorcontrib>VAN DER MAAREL, Silvere Maria</creatorcontrib><creatorcontrib>TAWIL, Alrabi</creatorcontrib><collection>esp@cenet</collection></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext_linktorsrc</fulltext></delivery><addata><au>LEMMERS, Richard Joannes Leonardus Franciscus</au><au>BALOG, Judit</au><au>TAPSCOTT, Stephen Justice</au><au>VAN DER MAAREL, Silvere Maria</au><au>TAWIL, Alrabi</au><format>patent</format><genre>patent</genre><ristype>GEN</ristype><title>MEANS AND METHODS FOR TREATING FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY (FSHD)</title><date>2016-12-08</date><risdate>2016</risdate><abstract>Title: Means and methods for treating facioscapulohumeral muscular dystrophy (FSHD). The invention is related to facioscapulohumeral muscular dystrophy (FSHD) and in particular therapeutic means and methods for the treatment of the disease. In one aspect the invention provides a composition for use in the treatment of a subject that has FSHD which composition comprises a therapeutically effective amount of a substance which increases the level and/or activity of a protein encoded by a structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1) gene in cells of the subject. The invention also provides means and methods for typing FSHD.
Moyens et méthodes de traitement de la dystrophie musculaire facio-scapulo-humérale (FSHD) L'invention concerne la dystrophie musculaire facio-scapulo-humérale (FSHD), et en particulier des moyens et des méthodes thérapeutiques de traitement de la maladie. Selon un aspect, l'invention concerne une composition destinée à être utilisée pour traiter un patient souffrant d'une FSHD, laquelle composition comprend une quantité thérapeutiquement efficace d'une substance qui augmente le niveau et/ou l'activité d'une protéine codée par un gène SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1) dans des cellules du patient. L'invention concerne également des moyens et des méthodes de typage de la FSHD.</abstract><oa>free_for_read</oa></addata></record> |
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| title | MEANS AND METHODS FOR TREATING FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY (FSHD) |
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