U.S. flag

An official website of the United States government

Display Settings:

Format
Sort by

Send to:

Choose Destination

Links from MedGen

Items: 3

1.
Longitudinal MRI findings in patient with SLC25A12 pathogenic variants inform disease progression and classification
Brian C. Kavanaugh, Emily B. Warren, Ozan Baytas, Michael Schmidt, Derek Merck, Karen Buch, Judy S. Liu, Chanika Phornphutkul, Paul Caruso, Eric M. Morrow
Am J Med Genet A. Author manuscript; available in PMC 2020 Nov 1.
Published in final edited form as: Am J Med Genet A. 2019 Nov; 179(11): 2284–2291. Published online 2019 Aug 12. doi: 10.1002/ajmg.a.61322
PMCID:
PMC6788951
AbstractArticlePDF–561K
2.
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia
Martina Minnerop, Delia Kurzwelly, Holger Wagner, Anne S Soehn, Jennifer Reichbauer, Feifei Tao, Tim W Rattay, Michael Peitz, Kristina Rehbach, Alejandro Giorgetti, Angela Pyle, Holger Thiele, Janine Altmüller, Dagmar Timmann, Ilker Karaca, Martina Lennarz, Jonathan Baets, Holger Hengel, Matthis Synofzik, Burcu Atasu, Shawna Feely, Marina Kennerson, Claudia Stendel, Tobias Lindig, Michael A Gonzalez, Rüdiger Stirnberg, Marc Sturm, Sandra Roeske, Johanna Jung, Peter Bauer, Ebba Lohmann, Stefan Herms, Stefanie Heilmann-Heimbach, Garth Nicholson, Muhammad Mahanjah, Rajech Sharkia, Paolo Carloni, Oliver Brüstle, Thomas Klopstock, Katherine D Mathews, Michael E Shy, Peter de Jonghe, Patrick F Chinnery, Rita Horvath, Jürgen Kohlhase, Ina Schmitt, Michael Wolf, Susanne Greschus, Katrin Amunts, Wolfgang Maier, Ludger Schöls, Peter Nürnberg, Stephan Zuchner, Thomas Klockgether, Alfredo Ramirez, Rebecca Schüle
Brain. 2017 Jun; 140(6): 1561–1578. Published online 2017 Apr 27. doi: 10.1093/brain/awx095
Correction in:
Brain. 2018 Mar; 141(3): e21.
PMCID:
PMC6402316
AbstractArticlePDF–1.1M
3.
Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis
Alistair T. Pagnamenta, Malcolm F. Howard, Eva Wisniewski, Niko Popitsch, Samantha J.L. Knight, David A. Keays, Gerardine Quaghebeur, Helen Cox, Phillip Cox, Tamas Balla, Jenny C. Taylor, Usha Kini
Hum Mol Genet. 2015 Jul 1; 24(13): 3732–3741. Published online 2015 Apr 8. doi: 10.1093/hmg/ddv117
PMCID:
PMC4459391
AbstractArticlePDF–1011K

Display Settings:

Format
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center