Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

Novarino, Gaia; G. Fenstermaker, Ali; S. Zaki, Maha; Hofree, Matan; L. Silhavy, Jennifer; Heiberg, Andrew; Abdellateef, Mostafa; Rosti, Başak; Scott, Eric; Mansour, Lobna; Masri, Amira; Kayserili, Hülya; Y. Al‐Aama, Jumana; M. H. Abdel‐Salam, Ghada; Karminejad, Ariana; Kara, Majdi; Kara, Bülent; Bozorgmehri, Bita; Ben‐Omran, Tawfeg; Mojahedi, Faezeh; G. Mahmoud, Iman; Bouslam, Naïma; Bouhouche, Ahmed; Benomar, Ali; Hanein, Sylvain; Raymond, Laure; Forlani, Sylvie; Mascaro, Massimo; Selim, Laila; Shehata, Nabil; Al‐Allawi, Nasir; Sankaran Bindu, Parayil; Azam, Matloob; Günel, Murat; Okay Çağlayan, Ahmet; Bilgüvar, Kaya; Tolun, Aslıhan; Y. Issa, Mahmoud; Schroth, Jana; Spencer, Emily; Özgür Rosti, Rasim; Akizu, Naiara; K. Vaux, Keith; Johansen, Anide; A. Koh, Alice; Megahed, Hisham; Dürr, Alexandra; Brice, Alexis; Stévanin, Giovanni; Gabriel, Stacy; Ideker, Trey; G. Gleeson, Joseph

doi:10.1126/science.1247363

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Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

Published in Science • Jan 30, 2014

Authors:

Gaia Novarino

Ali G. Fenstermaker

Maha S. Zaki

Abstract

Hereditary spastic paraplegias (HSPs) are neurodegenerative motor neuron diseases characterized by progressive age-dependent loss of corticospinal motor tract function. Although the genetic basis is partly understood, only a fraction of cases can receive a genetic diagnosis, and a global view of HSP...

Subject

Exome sequencing

Biology

Hereditary spastic paraplegia

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