PMC Links for Nucleotide (Select 1780222517) - PMC

Select item 55316111.

Architecture of the human interactome defines protein communities and disease networks

Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper

Nature. Author manuscript; available in PMC 2017 Nov 17.

Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366

PMCID:: PMC5531611

Abstract Article PDF–2.7M

Select item 44241302.

Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E

Claudio Semplicini, John Vissing, Julia R. Dahlqvist, Tanya Stojkovic, Luca Bello, Nanna Witting, Morten Duno, France Leturcq, Cinzia Bertolin, Paola D'Ambrosio, Bruno Eymard, Corrado Angelini, Luisa Politano, Pascal Laforêt, Elena Pegoraro

Neurology. 2015 Apr 28; 84(17): 1772–1781. doi: 10.1212/WNL.0000000000001519

PMCID:: PMC4424130

Abstract Article PDF–536K

Select item 69586753.

The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease

Jorge A. Bevilacqua, Maria del Rosario Guecaimburu Ehuletche, Abayuba Perna, Alberto Dubrovsky, Marcondes C. Franca, Jr, Steven Vargas, Madhuri Hegde, Kristl G. Claeys, Volker Straub, Nadia Daba, Roberta Faria, Magali Periquet, Susan Sparks, Nathan Thibault, Roberto Araujo

Orphanet J Rare Dis. 2020; 15: 11. Published online 2020 Jan 13. doi: 10.1186/s13023-019-1291-2

PMCID:: PMC6958675

Abstract Article PDF–739K

Select item 50378904.

A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies

Dorota Monies, Hindi N. Alhindi, Mohamed A. Almuhaizea, Mohamed Abouelhoda, Anas M. Alazami, Ewa Goljan, Banan Alyounes, Dyala Jaroudi, Abdulelah AlIssa, Khalid Alabdulrahman, Shazia Subhani, Mohamed El-Kalioby, Tariq Faquih, Salma M. Wakil, Nada A. Altassan, Brian F. Meyer, Saeed Bohlega

Hum Genomics. 2016; 10: 32. Published online 2016 Sep 27. doi: 10.1186/s40246-016-0089-8

PMCID:: PMC5037890

Abstract Article PDF–349K

Select item 22138915.

IL-1β Regulates FHL2 and Other Cytoskeleton-Related Genes in Human Chondrocytes

Helga Joos, Wolfgang Albrecht, Stefan Laufer, Heiko Reichel, Rolf E Brenner

Mol Med. 2008 Mar-Apr; 14(3-4): 150–159. Published online 2008 Jan 22. doi: 10.2119/2007-00118.Joos

PMCID:: PMC2213891

Abstract Article PDF–5.8M

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