NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy-Reference-Cited by-同舟云学术

NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy

Published:2015-01 Issue:1 Volume:58 Page:39-43
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Caglayan Ahmet Okay,Comu Sinan,Baranoski Jacob F.,Parman Yesim,Kaymakçalan Hande,Akgumus Gozde Tugce,Caglar Caner,Dolen Duygu,Erson-Omay Emine Zeynep,Harmanci Akdes Serin,Mishra-Gorur Ketu,Freeze Hudson H.,Yasuno Katsuhito,Bilguvar Kaya,Gunel Murat

Funder

Yale Program on Neurogenetics

Yale Center for Mendelian Disorders

Bertr and Might Research Fund

Gregory M. Kiez and Mehmet Kutman Foundation

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

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4. Neuronal atrophy and degeneration predominantly affecting peripheral sensory and autonomic neurons;Dyck,1993

5. Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway;Enns;Genet Med,2014

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