Literature DB >> 29529134

The expanding neurological phenotype of DNM1L-related disorders.

Michael F Wangler1,2,3, Nurit Assia Batzir1, Laurie A Robak1,3, Mary K Koenig4, Carlos A Bacino1,3, Fernando Scaglia1,3, Hugo J Bellen1,2,5.   

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Year:  2018        PMID： 29529134     DOI： 10.1093/brain/awy024

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


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  3 in total

1.  Metabolic alterations caused by the mutation and overexpression of the Tmem135 gene.

Authors:  Wei-Hua Lee; Vijesh J Bhute; Hitoshi Higuchi; Sakae Ikeda; Sean P Palecek; Akihiro Ikeda
Journal:  Exp Biol Med (Maywood)       Date:  2020-06-09

2.  De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures.

Authors:  Nurit Assia Batzir; Pranjali K Bhagwat; Tanya N Eble; Pengfei Liu; Christine M Eng; Sarah H Elsea; Laurie A Robak; Fernando Scaglia; Alica M Goldman; Shweta U Dhar; Michael F Wangler
Journal:  Cold Spring Harb Mol Case Stud       Date:  2019-06-03

Review 3.  Defects in Axonal Transport in Inherited Neuropathies.

Authors:  Danique Beijer; Angela Sisto; Jonas Van Lent; Jonathan Baets; Vincent Timmerman
Journal:  J Neuromuscul Dis       Date:  2019
  3 in total

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