Talk:Pontocerebellar hypoplasia

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Medical guidelines

Please see WP:MEDMOS and WP:MEDRS for how to organize and source medical articles. This Dispatch is helpful in locating the correct kinds of sources (secondary reviews): Wikipedia:Wikipedia Signpost/2008-06-30/Dispatches.

This template filler is helpful in generating citations from a PubMed identified (PMID). SandyGeorgia (Talk) 23:11, 22 April 2012 (UTC)[reply]

Thanks for expanding the article.

As to citations, I normally use Cite PMID template (or, preferably, Cite DOI template), that's even more easy than any template filler. kashmiri (talk) 23:20, 22 April 2012 (UTC)[reply]

You can switch them back if you prefer, but I avoid them like the plague. They sometimes (often, actually) return errors and are subject to vandalism. In this case, the PMID and PMC were left out, but I think you can edit the template to add them? Do switch them back if you prefer. Let me know if you have any other questions, Regards, SandyGeorgia (Talk) 23:23, 22 April 2012 (UTC)[reply]

Overhaul

I've started adding sections per MOS:MED and tidying the lead which should be an easily readable summary of the rest of the article. Further sections could include Diagnosis, Screening, Management, Epidemiology and History.

It really could do with more secondary sources, though, per MEDRS. Trip database finds 28 articles:

http://www.tripdatabase.com/search?criteria=pontocerebellar%20hypoplasia

But only two secondary sources (EFNS guidelines on the molecular diagnosis of mitochondrial disorders from 2011 and 2013):

http://www.guideline.gov/content.aspx?f=rss&id=24524

PubMed gives 78 hits, but only 5 reviews:

PMID 23562994 - Pontocerebellar hypoplasia type 2 and TSEN2: review of the literature and two novel mutations (2013)
PMID 21383226 - Pontocerebellar hypoplasia: review of classification and genetics, and exclusion of several genes known to be important for cerebellar development (2011)
PMID 21749694 - Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia (2011) - which we already use
PMID 17710422 - Progress on pontocerebellar hypoplasia (2007) - comment
PMID 11008257 - Pontocerebellar hypoplasia--how many types? (2000) - very dated now

So just the first two look promising for further detailed information. Anyone know of any more secondaries? --RexxS (talk) 22:07, 20 September 2014 (UTC)[reply]

Rudnik-Schöneborn, S.; Barth, P. G.; Zerres, K. (2014). "Pontocerebellar hypoplasia". American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 166 (2): 173. doi:10.1002/ajmg.c.31403.. Nikkimaria (talk) 00:53, 21 September 2014 (UTC)[reply]