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

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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