PMC Links for Nucleotide (Select 1519313760) - PMC

Select item 62221021.

Altered oligomeric states in pathogenic ALS2 variants associated with juvenile motor neuron diseases cause loss of ALS2-mediated endosomal function

Kai Sato, Asako Otomo, Mahoko Takahashi Ueda, Yui Hiratsuka, Kyoko Suzuki-Utsunomiya, Junya Sugiyama, Shuji Murakoshi, Shun Mitsui, Suzuka Ono, So Nakagawa, Hui-Fang Shang, Shinji Hadano

J Biol Chem. 2018 Nov 2; 293(44): 17135–17153. Published online 2018 Sep 17. doi: 10.1074/jbc.RA118.003849

PMCID:: PMC6222102

Abstract Article PDF–5.6M

Select item 58473342.

Rab5 and Alsin regulate stress-activated cytoprotective signaling on mitochondria

FoSheng Hsu, Stephanie Spannl, Charles Ferguson, Anthony A Hyman, Robert G Parton, Marino Zerial

eLife. 2018; 7: e32282. Published online 2018 Feb 22. doi: 10.7554/eLife.32282

PMCID:: PMC5847334

Abstract Article PDF–13M

Select item 67210493.

The Missing Heritability of Sporadic Frontotemporal Dementia: New Insights from Rare Variants in Neurodegenerative Candidate Genes

Miriam Ciani, Cristian Bonvicini, Catia Scassellati, Matteo Carrara, Carlo Maj, Silvia Fostinelli, Giuliano Binetti, Roberta Ghidoni, Luisa Benussi

Int J Mol Sci. 2019 Aug; 20(16): 3903. Published online 2019 Aug 10. doi: 10.3390/ijms20163903

PMCID:: PMC6721049

Abstract Article PDF–258K

Select item 67073354.

Comprehensive Genetic Analysis of a Hungarian Amyotrophic Lateral Sclerosis Cohort

Kornélia Tripolszki, Piyush Gampawar, Helena Schmidt, Zsófia F. Nagy, Dóra Nagy, Péter Klivényi, József I. Engelhardt, Márta Széll

Front Genet. 2019; 10: 732. Published online 2019 Aug 16. doi: 10.3389/fgene.2019.00732

PMCID:: PMC6707335

Abstract Article PDF–1.0M

Select item 58407765.

An RNAi screen of Rho signalling networks identifies RhoH as a regulator of Rac1 in prostate cancer cell migration

Virginia Tajadura-Ortega, Ritu Garg, Richard Allen, Claudia Owczarek, Michael D. Bright, Samuel Kean, Aisyah Mohd-Noor, Anita Grigoriadis, Timothy C. Elston, Klaus M. Hahn, Anne J. Ridley

BMC Biol. 2018; 16: 29. Published online 2018 Mar 6. doi: 10.1186/s12915-018-0489-4

PMCID:: PMC5840776

Abstract Article PDF–3.7M

Select item 57940576.

Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach

Marta Córdoba, Sergio Alejandro Rodriguez-Quiroga, Patricia Analía Vega, Valeria Salinas, Josefina Perez-Maturo, Hernán Amartino, Cecilia Vásquez-Dusefante, Nancy Medina, Dolores González-Morón, Marcelo Andrés Kauffman

PLoS One. 2018; 13(2): e0191228. Published online 2018 Feb 1. doi: 10.1371/journal.pone.0191228

PMCID:: PMC5794057

Abstract Article PDF–1.8M

Select item 29545847.

Mendelian bases of myopathies, cardiomyopathies, and neuromyopathies

G Piluso, S Aurino, M Cacciottolo, F Del Vecchio Blanco, A Lancioni, IL Rotundo, A Torella, V Nigro

Acta Myol. 2010 Jul; 29(1): 1–20.

PMCID:: PMC2954584

Abstract Article PDF–699K

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