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1.发明公开METHOD FOR DIAGNOSING OR PREDICTING A NON SYNDROMIC AUTOSOMAL RECESSIVE OPTIC ATROPHY, OR A RISK OF A NON SYNDROMIC AUTOSOMAL RECESSIVE OPTIC ATROPHY. 有权方法进行诊断和预测非综合征性常染色体隐性遗传OPTICAL萎缩或风险的非综合征性常染色体隐性遗传光萎缩的
公开(公告)号：EP2411534A1
公开(公告)日：2012-02-01
申请号：EP10710320.2
申请日：2010-03-23
发明人： ROZET, Jean-Michel , KAPLAN, Josseline , PERRAULT, Isabelle , GERBER, Sylvie , HANEIN, Sylvain , MUNNICH, Arnold
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6883 , A61K48/00 , C07K14/46 , C12Q2600/156 , C12Q2600/172
摘要： The present invention relates to a method for diagnosing or predicting a non syndromic autosomal recessive optic atrophy, or a risk of a non syndromic autosomal recessive optic atrophy.
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2.发明公开DIAGNOSIS OF HEREDITARY SPASTIC PARAPLEGIAS (HSP) BY IDENTIFICATION OF A MUTATION IN THE ZFYVE26 GENE OR PROTEIN 有权遗传性痉挛性麻痹（HSP）是识别中的突变ZFYVE26基因或蛋白质的诊断
公开(公告)号：EP2268837A1
公开(公告)日：2011-01-05
申请号：EP09728253.7
申请日：2009-03-31
发明人： STEVANIN, Giovanni , HANEIN, Sylvain , BOUKHRIS, Amir , GOIZET, Cyril , MARTIN, Elodie , BRICE, Alexis
CPC分类号： C12Q1/6883 , C07H21/04 , C07K14/47 , C12Q2600/156 , G01N33/6893 , G01N2800/385
摘要： The Invention relates to an ex vivo method of diagnosing or predicting a hereditary spastic paraplegias (HSP), in a subject, which method comprises detecting a mutation in the ZFYVE26 gene or protein (spastizin), wherein said mutation is indicative of a hereditary spastic paraplegias (HSP).
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3.发明授权DIAGNOSIS OF HEREDITARY SPASTIC PARAPLEGIAS (HSP) BY IDENTIFICATION OF A MUTATION IN THE ZFYVE26 GENE OR PROTEIN 有权通过鉴定ZFYVE26基因或蛋白质突变来诊断霍乱弹性帕金菌病（HSP）
公开(公告)号：EP2268837B1
公开(公告)日：2018-02-07
申请号：EP09728253.7
申请日：2009-03-31
发明人： STEVANIN, Giovanni , HANEIN, Sylvain , BOUKHRIS, Amir , GOIZET, Cyril , MARTIN, Elodie , BRICE, Alexis
CPC分类号： C12Q1/6883 , C07H21/04 , C07K14/47 , C12Q2600/156 , G01N33/6893 , G01N2800/385
摘要： The Invention relates to an ex vivo method of diagnosing or predicting a hereditary spastic paraplegias (HSP), in a subject, which method comprises detecting a mutation in the ZFYVE26 gene or protein (spastizin), wherein said mutation is indicative of a hereditary spastic paraplegias (HSP).
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4.发明授权METHOD FOR DIAGNOSING OR PREDICTING A NON SYNDROMIC AUTOSOMAL RECESSIVE OPTIC ATROPHY, OR A RISK OF A NON SYNDROMIC AUTOSOMAL RECESSIVE OPTIC ATROPHY. 有权方法进行诊断和预测非综合征性常染色体隐性遗传OPTICAL萎缩或风险的非综合征性常染色体隐性遗传光萎缩的
公开(公告)号：EP2411534B1
公开(公告)日：2016-06-01
申请号：EP10710320.2
申请日：2010-03-23
申请人： INSERM - Institut National de la Santé et de la Recherche Médicale , Université Paris Descartes
发明人： ROZET, Jean-Michel , KAPLAN, Josseline , PERRAULT, Isabelle , GERBER, Sylvie , HANEIN, Sylvain , MUNNICH, Arnold
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6883 , A61K48/00 , C07K14/46 , C12Q2600/156 , C12Q2600/172
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