PMC Articles for MedGen (Select 868195) - PMC

Select item 99562531.

GDP-Mannose Pyrophosphorylase B (GMPPB)-Related Disorders

Pitcha Chompoopong, Margherita Milone

Genes (Basel) 2023 Feb; 14(2): 372. Published online 2023 Jan 31. doi: 10.3390/genes14020372

PMCID:: PMC9956253

Select item 83256092.

Muscle-specific deletion of the vitamin D receptor in mice is associated with diaphragm muscle weakness

Matthew J. Fogarty, Louis L. Losbanos, Theodore A. Craig, Carmen J. Reynolds, Alyssa D. Brown, Rajiv Kumar, Gary C. Sieck

J Appl Physiol (1985) 2021 Jul 1; 131(1): 95–106. Published online 2021 May 20. doi: 10.1152/japplphysiol.00194.2021

PMCID:: PMC8325609

Abstract Article

Select item 68798333.

Skeletal myofiber VEGF deficiency leads to mitochondrial, structural, and contractile alterations in mouse diaphragm

Daniel T. Cannon, Lukas Rodewohl, Volker Adams, Ellen C. Breen, T. Scott Bowen

J Appl Physiol (1985) 2019 Nov 1; 127(5): 1360–1369. Published online 2019 Sep 5. doi: 10.1152/japplphysiol.00779.2018

PMCID:: PMC6879833

Abstract Article

Select item 67522274.

The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations

Pedro M. Rodríguez Cruz, Judith Cossins, Eduardo de Paula Estephan, Francina Munell, Kathryn Selby, Michio Hirano, Reza Maroofin, Mohammad Yahya Vahidi Mehrjardi, Gabriel Chow, Aisling Carr, Adnan Manzur, Stephanie Robb, Pinki Munot, Wei Wei Liu, Siddharth Banka, Harry Fraser, Christian De Goede, Edmar Zanoteli, Umbertina Conti Reed, Abigail Sage, Margarida Gratacos, Alfons Macaya, Marina Dusl, Jan Senderek, Ana Töpf, Monika Hofer, Ravi Knight, Sithara Ramdas, Sandeep Jayawant, Hans Lochmüller, Jacqueline Palace, David Beeson

Brain. 2019 Jun; 142(6): 1547–1560. Published online 2019 May 13. doi: 10.1093/brain/awz107

PMCID:: PMC6752227

Abstract Article PDF–1.2M

Select item 66554745.

Congenital myasthenic syndrome due to rapsyn deficiency: A case report with a new mutation and compound heterozygosity

Ivan O. Espinoza, Carolina Reynoso, Giulliana Chávez, Andrew G. Engel

Medwave. Author manuscript; available in PMC 2020 Jun 4.

Published in final edited form as: Medwave. 2019 Jun 4; 19(5): e7645. Published online 2019 Jun 4. doi: 10.5867/medwave.2019.05.7645

Correction in:: Medwave. 2019 Jun 18; 19(5): e7657.

PMCID:: PMC6655474

Abstract Article PDF–518K

Select item 63905666.

Congenital myasthenic syndromes

Josef Finsterer

Orphanet J Rare Dis. 2019; 14: 57. Published online 2019 Feb 26. doi: 10.1186/s13023-019-1025-5

PMCID:: PMC6390566

Abstract Article PDF–1.0M

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