The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8

被引：0
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作者：
Amir Jahic
Mukhran Khundadze
Nadine Jaenisch
Rebecca Schüle
Sven Klimpe
Stephan Klebe
Christiane Frahm
Jan Kassubek
Giovanni Stevanin
Ludger Schöls
Alexis Brice
Christian A. Hübner
Christian Beetz
机构：
[1] Jena University Hospital,Department of Clinical Chemistry and Laboratory Medicine
[2] Institute of Human Genetics,Hans Berger Department of Neurology
[3] Jena University Hospital,Hertie
[4] Jena University Hospital,Institute for Clinical Brain Research, Department of Neurodegenerative Diseases
[5] University of Tübingen,Department of Neurology
[6] German Research Center for Neurodegenerative Diseases (DZNE),Department of Neurology
[7] Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics,Department of Neurology
[8] University Medical Center of the Johannes-Gutenberg University Mainz,undefined
[9] University Hospital,undefined
[10] University of Ulm,undefined
[11] INSERM U1127,undefined
[12] Sorbonne Universités,undefined
[13] UPMC Univ Paris 06 UMR_S1127,undefined
[14] CNRS UMR7225,undefined
[15] EPHE,undefined
[16] Institut du Cerveau et de la Moelle épinière,undefined
来源：
Orphanet Journal of Rare Diseases | / 10卷
关键词：
Hereditary spastic paraplegia; KIAA0196; Mouse model; Knockout; SPG8; Strumpellin;
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