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Items: 4

1.

Mechanisms of Neurological Dysfunction in GOSR2 Progressive Myoclonus Epilepsy, a Golgi SNAREopathy.

Jepson JEC, Praschberger R, Krishnakumar SS.

Neuroscience. 2019 Apr 4. pii: S0306-4522(19)30219-2. doi: 10.1016/j.neuroscience.2019.03.057. [Epub ahead of print] Review.

PMID:
30954670
2.

Mutations in Membrin/GOSR2 Reveal Stringent Secretory Pathway Demands of Dendritic Growth and Synaptic Integrity.

Praschberger R, Lowe SA, Malintan NT, Giachello CNG, Patel N, Houlden H, Kullmann DM, Baines RA, Usowicz MM, Krishnakumar SS, Hodge JJL, Rothman JE, Jepson JEC.

Cell Rep. 2017 Oct 3;21(1):97-109. doi: 10.1016/j.celrep.2017.09.004.

3.

Expanding the Phenotype and Genetic Defects Associated with the GOSR2 Gene.

Praschberger R, Balint B, Mencacci NE, Hersheson J, Rubio-Agusti I, Kullmann DM, Bettencourt C, Bhatia K, Houlden H.

Mov Disord Clin Pract. 2015 Jun 17;2(3):271-273. doi: 10.1002/mdc3.12190. eCollection 2015 Sep.

4.

Impact of D181V and A69T on the function of ferroportin as an iron export pump and hepcidin receptor.

Praschberger R, Schranz M, Griffiths WJ, Baumgartner N, Hermann M, Lomas DJ, Pietrangelo A, Cox TM, Vogel W, Zoller H.

Biochim Biophys Acta. 2014 Sep;1842(9):1406-12. doi: 10.1016/j.bbadis.2014.05.011. Epub 2014 May 21.

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