Literature DB >> 28168832

A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9.

Ashley P L Marsh1,2, Patrick Yap3,4, Tiong Tan3, Kate Pope1, Susan M White2,3, Belinda Chong3, George Mcgillivray3, Amber Boys3, Sarah E M Stephenson1,2, Richard J Leventer2,5,6, Zornitza Stark3, Paul J Lockhart1,2.   

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Year:  2017        PMID： 28168832     DOI： 10.1002/ajmg.a.38076

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  5 in total

1.  Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9.

Authors:  Fanny Kortüm; Rami Abou Jamra; Malik Alawi; Susan A Berry; Guntram Borck; Katherine L Helbig; Sha Tang; Dagmar Huhle; Georg Christoph Korenke; Malavika Hebbar; Anju Shukla; Katta M Girisha; Maja Steinlin; Sandra Waldmeier-Wilhelm; Martino Montomoli; Renzo Guerrini; Johannes R Lemke; Kerstin Kutsche
Journal:  Eur J Hum Genet       Date:  2018-02-20       Impact factor: 4.246

2.  CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63.

Authors:  Ashley P L Marsh; Gaia Novarino; Paul J Lockhart; Richard J Leventer
Journal:  Eur J Hum Genet       Date:  2018-08-08       Impact factor: 4.246

Review 3.  Expanding the clinical relevance of the 5'-nucleotidase cN-II/NT5C2.

Authors:  Lars Petter Jordheim
Journal:  Purinergic Signal       Date:  2018-10-25       Impact factor: 3.765

4.  Novel AMPD2 mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities.

Authors:  Andrea Accogli; Michele Iacomino; Francesca Pinto; Alessandro Orsini; Maria Stella Vari; Raed Selmi; Annalaura Torella; Vincenzo Nigro; Carlo Minetti; Mariasavina Severino; Pasquale Striano; Valeria Capra; Federico Zara
Journal:  Neurol Genet       Date:  2017-08-09

Review 5.  What's new in pontocerebellar hypoplasia? An update on genes and subtypes.

Authors:  Tessa van Dijk; Frank Baas; Peter G Barth; Bwee Tien Poll-The
Journal:  Orphanet J Rare Dis       Date:  2018-06-15       Impact factor: 4.123
  5 in total

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