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Literature DB >> 29406958

Discordant manifestations in Italian brothers with GNE myopathy.

Maria-Teresa Dotti¹, Alessandro Malandrini¹, Xavière Lornage², Andrea Mignarri¹, Teresa Anna Cantisani³, Johann Bohm², Jocelyn Laporte², Edoardo Malfatti⁴.

Abstract

Entities: Disease Gene

Keywords: Clinical discordance; Exome sequencing; GNE myopathy; Italy; Rimmed vacuoles; UDP-N-acetyl-glucosamine 2-epimerase/N-acetylmannosamine kinase

Mesh：

Substances：

Year: 2018 PMID： 29406958 DOI： 10.1016/j.jns.2018.01.002

Source DB: PubMed Journal: J Neurol Sci ISSN： 0022-510X Impact factor: 3.181

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2 in total

Review 1. GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges.

Authors: Nuria Carrillo; May C Malicdan; Marjan Huizing
Journal: Neurotherapeutics Date: 2018-10 Impact factor: 7.620

2. Myogenesis defects in a patient-derived iPSC model of hereditary GNE myopathy.

Authors: Rebecca E Schmitt; Douglas Y Smith; Dong Seong Cho; Lindsey A Kirkeby; Zachary T Resch; Teerin Liewluck; Zhiyv Niu; Margherita Milone; Jason D Doles
Journal: NPJ Regen Med Date: 2022-09-09

2 in total