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Select item 48620681.

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis

Natalie Trump, Amy McTague, Helen Brittain, Apostolos Papandreou, Esther Meyer, Adeline Ngoh, Rodger Palmer, Deborah Morrogh, Christopher Boustred, Jane A Hurst, Lucy Jenkins, Manju A Kurian, Richard H Scott

J Med Genet. 2016 May; 53(5): 310–317. Published online 2016 Mar 18. doi: 10.1136/jmedgenet-2015-103263

PMCID:: PMC4862068

Article PDF–443K

Select item 39371502.

A novel recurrent mutation in ATP1A3 causes CAPOS syndrome

Michelle K Demos, Clara DM van Karnebeek, Colin JD Ross, Shelin Adam, Yaoqing Shen, Shing Hei Zhan, Casper Shyr, Gabriella Horvath, Mohnish Suri, Alan Fryer, Steven JM Jones, Jan M Friedman

Orphanet J Rare Dis. 2014; 9: 15. Published online 2014 Jan 28. doi: 10.1186/1750-1172-9-15

PMCID:: PMC3937150

Article PDF–843K

Select item 35680313.

Identification of ATP1A3 Mutations by Exome Sequencing as the Cause of Alternating Hemiplegia of Childhood in Japanese Patients

Atsushi Ishii, Yoshiaki Saito, Jun Mitsui, Hiroyuki Ishiura, Jun Yoshimura, Hidee Arai, Sumimasa Yamashita, Sadami Kimura, Hirokazu Oguni, Shinichi Morishita, Shoji Tsuji, Masayuki Sasaki, Shinichi Hirose

PLoS One. 2013; 8(2): e56120. Published online 2013 Feb 8. doi: 10.1371/journal.pone.0056120

PMCID:: PMC3568031

Article PDF–836K

Select item 30395704.

Initial characterization of the human central proteome

Thomas R Burkard, Melanie Planyavsky, Ines Kaupe, Florian P Breitwieser, Tilmann Bürckstümmer, Keiryn L Bennett, Giulio Superti-Furga, Jacques Colinge

BMC Syst Biol. 2011; 5: 17. Published online 2011 Jan 26. doi: 10.1186/1752-0509-5-17

PMCID:: PMC3039570

Article PDF–2.3M

Select item 28332685.

RAPID-ONSET DYSTONIA-PARKINSONISM IN A CHILD WITH A NOVEL ATP1A3 GENE MUTATION

I A. Anselm, K J. Sweadner, S Gollamudi, L J. Ozelius, B T. Darras

Neurology. 2009 Aug 4; 73(5): 400–401. doi: 10.1212/WNL.0b013e3181b04acd

PMCID:: PMC2833268

Article PDF–423K

Select item 5289286.

The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)

Genome Res. 2004 Oct; 14(10b): 2121–2127. doi: 10.1101/gr.2596504

Correction in:: Genome Res. 2006 Jun; 16(6): 804.

PMCID:: PMC528928

Article PDF–140K

Select item 70227727.

Advancing the Role of Gamma-Tocotrienol as Proteasomes Inhibitor: A Quantitative Proteomic Analysis of MDA-MB-231 Human Breast Cancer Cells

Premdass Ramdas, Ammu Kutty Radhakrishnan, Asmahani Azira Abdu Sani, Mangala Kumari, Jeya Seela Anandha Rao, Puteri Shafinaz Abdul-Rahman

Biomolecules. 2020 Jan; 10(1): 19. Published online 2019 Dec 21. doi: 10.3390/biom10010019

PMCID:: PMC7022772

Article PDF–1.9M

Select item 68595488.

Lipids and lipoxidation in human brain aging. Mitochondrial ATP-synthase as a key lipoxidation target

Mariona Jové, Irene Pradas, Mayelin Dominguez-Gonzalez, Isidro Ferrer, Reinald Pamplona

Redox Biol. 2019 May; 23: 101082. Published online 2018 Dec 19. doi: 10.1016/j.redox.2018.101082

PMCID:: PMC6859548

Article PDF–2.3M

Select item 67752079.

Recessive Inheritance of Congenital Hydrocephalus With Other Structural Brain Abnormalities Caused by Compound Heterozygous Mutations in ATP1A3

August A. Allocco, Sheng Chih Jin, Phan Q. Duy, Charuta G. Furey, Xue Zeng, Weilai Dong, Carol Nelson-Williams, Jason K. Karimy, Tyrone DeSpenza, Le T. Hao, Benjamin Reeves, Shozeb Haider, Murat Gunel, Richard P. Lifton, Kristopher T. Kahle

Front Cell Neurosci. 2019; 13: 425. Published online 2019 Sep 26. doi: 10.3389/fncel.2019.00425

PMCID:: PMC6775207

Article PDF–4.5M

Select item 629135410.

Missense variants in ATP1A3 and FXYD gene family are associated with childhood-onset schizophrenia

Boris Chaumette, Vladimir Ferrafiat, Amirthagowri Ambalavanan, Alice Goldenberg, Alexandre Dionne-Laporte, Dan Spiegelman, Patrick A. Dion, Priscille Gerardin, Claudine Laurent, David Cohen, Judith Rapoport, Guy A. Rouleau

Mol Psychiatry. Author manuscript; available in PMC 2018 Dec 12.

Published in final edited form as: Mol Psychiatry. 2018 Jun 12 : 10.1038/s41380-018-0103-8. Published online 2018 Jun 12. doi: 10.1038/s41380-018-0103-8

PMCID:: PMC6291354

Article PDF–420K

Select item 598315411.

Effect of resistance training and protein intake pattern on myofibrillar protein synthesis and proteome kinetics in older men in energy restriction

Caoileann H. Murphy, Mahalakshmi Shankaran, Tyler A. Churchward‐Venne, Cameron J. Mitchell, Nathan M. Kolar, Louise M. Burke, John A. Hawley, Amira Kassis, Leonidas G. Karagounis, Kelvin Li, Chelsea King, Marc Hellerstein, Stuart M. Phillips

J Physiol. 2018 Jun 1; 596(11): 2091–2120. Published online 2018 Apr 17. doi: 10.1113/JP275246

PMCID:: PMC5983154

Article PDF–953K

Select item 588430112.

Screening of Serum Protein Markers for Avascular Osteonecrosis of Femoral Head Differentially Expressed after Treatment with Yuanshi Shengmai Chenggu Tablets

Peng Deng, Jianchun Zeng, Jie Li, Wenjun Feng, Jinlun Chen, Yirong Zeng

Biomed Res Int. 2018; 2018: 5692735. Published online 2018 Mar 20. doi: 10.1155/2018/5692735

PMCID:: PMC5884301

Article PDF–1.8M

Select item 559349713.

Identification of CALM as the potential serum biomarker for predicting the recurrence of nasopharyngeal carcinoma using a mass spectrometry-based comparative proteomic approach

Huiling Meng, Xiaodong Zhu, Ling Li, Zhongguo Liang, Xiaoyu Li, Xinbin Pan, Fanyan Zeng, Song Qu

Int J Mol Med. 2017 Oct; 40(4): 1152–1164. Published online 2017 Aug 9. doi: 10.3892/ijmm.2017.3094

PMCID:: PMC5593497

Article PDF–1.9M

Select item 514517114.

Mathematical Characterization of Protein Sequences Using Patterns as Chemical Group Combinations of Amino Acids

Jayanta Kumar Das, Provas Das, Korak Kumar Ray, Pabitra Pal Choudhury, Siddhartha Sankar Jana

PLoS One. 2016; 11(12): e0167651. Published online 2016 Dec 8. doi: 10.1371/journal.pone.0167651

PMCID:: PMC5145171

Article PDF–1.7M

Select item 500293015.

A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia

Niklas Smedemark-Margulies, Catherine A. Brownstein, Sigella Vargas, Sahil K. Tembulkar, Meghan C. Towne, Jiahai Shi, Elisa Gonzalez-Cuevas, Kevin X. Liu, Kaya Bilguvar, Robin J. Kleiman, Min-Joon Han, Alcy Torres, Gerard T. Berry, Timothy W. Yu, Alan H. Beggs, Pankaj B. Agrawal, Joseph Gonzalez-Heydrich

Cold Spring Harb Mol Case Stud. 2016 Sep; 2(5): a001008. doi: 10.1101/mcs.a001008

PMCID:: PMC5002930

Article PDF–1.6M

Select item 483509316.

Differential Expression of Vitreous Proteins in Young and Mature New Zealand White Rabbits

Ying Liu, Rachida A. Bouhenni, Craig P. Dufresne, Richard D. Semba, Deepak P. Edward

PLoS One. 2016; 11(4): e0153560. Published online 2016 Apr 18. doi: 10.1371/journal.pone.0153560

PMCID:: PMC4835093

Article PDF–1.5M

Select item 473111617.

Activation of the Endogenous Renin-Angiotensin-Aldosterone System or Aldosterone Administration Increases Urinary Exosomal Sodium Channel Excretion

Ying Qi, Xiaojing Wang, Kristie L. Rose, W. Hayes MacDonald, Bing Zhang, Kevin L. Schey, James M. Luther

J Am Soc Nephrol. 2016 Feb; 27(2): 646–656. Published online 2015 Jun 25. doi: 10.1681/ASN.2014111137

PMCID:: PMC4731116

Article

Select item 462220918.

Large-scale identification of membrane proteins with properties favorable for crystallization

Jared Kim, Allison Kagawa, Kellie Kurasaki, Niloufar Ataie, Il Kyu Cho, Qing X Li, Ho Leung Ng

Protein Sci. 2015 Nov; 24(11): 1756–1763. Published online 2015 Aug 27. doi: 10.1002/pro.2766

PMCID:: PMC4622209

Article PDF–208K

Select item 458374119.

Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood—a study of 155 patients

Eleni Panagiotakaki, Elisa De Grandis, Michela Stagnaro, Erin L. Heinzen, Carmen Fons, Sanjay Sisodiya, Boukje de Vries, Christophe Goubau, Sarah Weckhuysen, David Kemlink, Ingrid Scheffer, Gaëtan Lesca, Muriel Rabilloud, Amna Klich, Alia Ramirez-Camacho, Adriana Ulate-Campos, Jaume Campistol, Melania Giannotta, Marie-Laure Moutard, Diane Doummar, Cecile Hubsch-Bonneaud, Fatima Jaffer, Helen Cross, Fiorella Gurrieri, Danilo Tiziano, Sona Nevsimalova, Sophie Nicole, Brian Neville, Arn M. J. M. van den Maagdenberg, Mohamad Mikati, David B. Goldstein, Rosaria Vavassori, Alexis Arzimanoglou, The Italian IBAHC Consortium, The French AHC Consortium, The International AHC Consortium

Orphanet J Rare Dis. 2015; 10: 123. Published online 2015 Sep 26. doi: 10.1186/s13023-015-0335-5

PMCID:: PMC4583741

Article PDF–1010K

Select item 416468320.

Distribution of Na,K-ATPase α Subunits in Rat Vestibular Sensory Epithelia

Olga Schuth, Will J. McLean, Ruth Anne Eatock, Sonja J. Pyott

J Assoc Res Otolaryngol. 2014 Oct; 15(5): 739–754. Published online 2014 Aug 5. doi: 10.1007/s10162-014-0479-3

PMCID:: PMC4164683

Article PDF–13M

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