Publications by authors named "Angela Gruber"

6Publications

Intracellular calcium leak as a therapeutic target for RYR1-related myopathies.

Authors:
Alexander Kushnir Joshua J Todd Jessica W Witherspoon Qi Yuan Steven Reiken Harvey Lin Ross H Munce Benjamin Wajsberg Zephan Melville Oliver B Clarke Kaylee Wedderburn-Pugh Anetta Wronska Muslima S Razaqyar Irene C Chrismer Monique O Shelton Ami Mankodi Christopher Grunseich Mark A Tarnopolsky Kurenai Tanji Michio Hirano Sheila Riazi Natalia Kraeva Nicol C Voermans Angela Gruber Carolyn Allen Katherine G Meilleur Andrew R Marks

Acta Neuropathol 2020 06 31;139(6):1089-1104. Epub 2020 Mar 31.

Department of Physiology and Cellular Biophysics, Clyde and Helen Wu Center for Molecular Cardiology, Columbia University Irving Medical Center, New York, NY, USA.

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June 2020

LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes.

Authors:
Jorge Oliveira Angela Gruber Márcio Cardoso Ricardo Taipa Isabel Fineza Ana Gonçalves Andreas Laner Thomas L Winder Jocelyn Schroeder Julie Rath Márcia E Oliveira Emília Vieira Ana Paula Sousa José Pedro Vieira Teresa Lourenço Luciano Almendra Luís Negrão Manuela Santos Manuel Melo-Pires Teresa Coelho Johan T den Dunnen Rosário Santos Mário Sousa

Hum Mutat 2018 10 10;39(10):1314-1337. Epub 2018 Aug 10.

Unidade Multidisciplinar de Investigação Biomédica (UMIB), Instituto de Ciências Biomédicas Abel Salazar (ICBAS), Universidade do Porto, Porto, Portugal.

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October 2018

Myopathy With and Variants: Clinical and Pathological Features.

Authors:
Zhiyv Niu Carly Sabine Pontifex Sarah Berini Leslie E Hamilton Elie Naddaf Eric Wieben Ross A Aleff Kristina Martens Angela Gruber Andrew G Engel Gerald Pfeffer Margherita Milone

Front Neurol 2018 19;9:147. Epub 2018 Mar 19.

Department of Neurology, Mayo Clinic, Rochester, MN, United States.

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March 2018

Identification of an element-mediated deletion in the promoter region of in siblings with GNE myopathy.

Authors:
Jennifer Garland Joshi Stephen Bradley Class Angela Gruber Carla Ciccone Aaron Poliak Christina P Hayes Vandana Singhal Christina Slota John Perreault Ralitza Gavrilova Joseph A Shrader Prashant Chittiboina Galen Joe John Heiss William A Gahl Marjan Huizing Nuria Carrillo May Christine V Malicdan

Mol Genet Genomic Med 2017 Jul 14;5(4):410-417. Epub 2017 Jun 14.

Medical Genetics BranchNational Human Genome Research InstituteNational Institutes of HealthBethesdaMDUSA.

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July 2017

A RecA protein surface required for activation of DNA polymerase V.

Authors:
Angela J Gruber Aysen L Erdem Grzegorz Sabat Kiyonobu Karata Malgorzata M Jaszczur Dan D Vo Tayla M Olsen Roger Woodgate Myron F Goodman Michael M Cox

PLoS Genet 2015 Mar 26;11(3):e1005066. Epub 2015 Mar 26.

Department of Biochemistry, University of Wisconsin-Madison, Madison, Wisconsin, United States of America.

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March 2015

Function of the N-terminal segment of the RecA-dependent nuclease Ref.

Authors:
Angela J Gruber Tayla M Olsen Rachel H Dvorak Michael M Cox

Nucleic Acids Res 2015 Feb 23;43(3):1795-803. Epub 2015 Jan 23.

Department of Biochemistry, University of Wisconsin-Madison, Madison, WI 53706, USA

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February 2015