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Author/Creator Snyder, Molly

1. BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy. Issue 12 (15th November 2021)

Authors:
Donkervoort, Sandra; Krause, Niklas; Dergai, Mykola; Yun, Pomi; Koliwer, Judith; Gorokhova, Svetlana; Geist Hauserman, Janelle; Cummings, Beryl B; Hu, Ying; Smith, Rosemarie; Uapinyoying, Prech; Ganesh, Vijay S; Ghosh, Partha S; Monaghan, Kristin G; Edassery, Seby L; Ferle, Pia E; Silverstein, Sa...
Journal:
EMBO molecular medicine
Issue:
Volume 13:Issue 12(2021)
Page Start:
n/a
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome. Issue 10 (10th August 2020)

Authors:
Donkervoort, Sandra; Mohassel, Payam; Laugwitz, Lucia; Zaki, Maha S.; Kamsteeg, Erik‐Jan; Maroofian, Reza; Chao, Katherine R.; Verschuuren‐Bemelmans, Corien C.; Horber, Veronka; Fock, Annemarie J. M.; McCarty, Riley M.; Jain, Minal S.; Biancavilla, Victoria; McMacken, Grace; Nalls, Matthew; Voerm...
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 10(2020)
Page Start:
2272
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate–binding region. (25th January 2019)

Authors:
Kelly, McKenna; Park, Meredith; Mihalek, Ivana; Rochtus, Anne; Gramm, Marie; Pérez‐Palma, Eduardo; Axeen, Erika Takle; Hung, Christina Y.; Olson, Heather; Swanson, Lindsay; Anselm, Irina; Briere, Lauren C.; High, Frances A.; Sweetser, David A.; Kayani, Saima; Snyder, Molly; Calvert, Sophie; Schef...
Other Names:
Adams David R. investigator.; Aday Aaron investigator.; Alejandro Mercedes E. investigator.; Allard Patrick investigator.; Ashley Euan A. investigator.; Azamian Mahshid S. investigator.; Bacino Carlos A. investigator.; Baker Eva investigator.; Balasubramanyam Ashok investigator.; Barseghyan Hayk ...
Journal:
Epilepsia
Issue:
Volume 60:issue 3(2019)
Page Start:
406
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗