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Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction
2015
134 citations
Journal Article
green Open Access
Field-Weighted Citation Impact:
9.74
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction | Researchclopedia
Rockefeller University
A. Gélot
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Sorbonne Université
Başak Rosti
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Rockefeller University
Keith K. Vaux
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Rockefeller University
Eric Scott
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Howard Hughes Medical Institute
Jennifer L. Silhavy
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Rockefeller University
Jana Schroth
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Rockefeller University
Brett Copeland
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Howard Hughes Medical Institute
Ashleigh E. Schaffer
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Howard Hughes Medical Institute
Philip L.S.M. Gordts
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University of California, San Diego
Jeffrey D. Esko
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University of California, San Diego
Matthew D. Buschman
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University of California, San Diego
Seth J. Field
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University of California, San Diego
Gennaro Napolitano
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Scripps Research Institute
Ghada M. H. Abdel‐Salam
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National Research Centre
Rıza Köksal Özgül
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Hacettepe University
Mahmut Şamil Sağıroğlu
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TUBITAK BILGEM
Matloob Azam
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University of Wah
Samira Ismail
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National Research Centre
Mona Aglan
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National Research Centre
Laila Selim
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Cairo University
Iman G. Mahmoud
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Cairo University
Sawsan Abdel-Hadi
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Cairo University
Amera El Badawy
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Cairo University
Abdelrahim A. Sadek
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Sohag University
Faezeh Mojahedi
Hülya Kayserili
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Istanbul University
Amira Masri
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University of Jordan
Lailá Bastaki
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Kuwait Institute for Medical Specialization
Samia A. Temtamy
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National Research Centre
Ulrich Müller
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Scripps Research Institute
Isabelle Desguerre
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Hôpital Necker-Enfants Malades
Jean‐Laurent Casanova
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Inserm
Ali Dursun
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Hacettepe University
Murat Günel
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Yale University
Stacey Gabriel
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Broad Institute
Pascale de Lonlay
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Hôpital Necker-Enfants Malades
Joseph G. Gleeson
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New York Genome Center