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Items: 1 to 20 of 45

1.
Dipti Baskar, Seena Vengalil, Saraswati Nashi, Mainak Bardhan, Kosha Srivastava, Sai Bhargava Sanka, Kiran Polavarapu, Deepak Menon, Veeramani Preethish-Kumar, Hansashree Padmanabha, Gautham Arunachal, Atchayaram Nalini
J Neuromuscul Dis. 2023; 10(4): 727–730. Prepublished online 2023 May 2. Published online 2023 Jul 4. doi: 10.3233/JND-230017
PMCID:
PMC10357141
2.
Thomas A. Cassini, May Christine V. Malicdan, Ellen F. Macnamara, Tanya Lehky, Iren Horkayne-Szakaly, Undiagnosed Diseases Network, Yan Huang, Robert Jones, Rena Godfrey, Lynne Wolfe, William A Gahl, Camilo Toro
Neuromuscul Disord.
Published in final edited form as: Neuromuscul Disord. 2023 Mar; 33(3): 257–262. Published online 2022 Dec 28. doi: 10.1016/j.nmd.2022.12.014
PMCID:
PMC10023425
3.
Nilay Taneja, Matthew R. Bersi, Sophie M. Baillargeon, Aidan M. Fenix, James A. Cooper, Ryoma Ohi, Vivian Gama, W. David Merryman, Dylan T. Burnette
Cell Rep.
Published in final edited form as: Cell Rep. 2020 Apr 7; 31(1): 107477. doi: 10.1016/j.celrep.2020.03.041
PMCID:
PMC8223100
4.
Vandana Rai, Dustin G. Thomas, Jordan R. Beach, Thomas T. Egelhoff
J Biol Chem. 2017 Feb 24; 292(8): 3099–3111. Published online 2017 Jan 4. doi: 10.1074/jbc.M116.733402
PMCID:
PMC5336147
5.
Homa Tajsharghi, Simon Hammans, Christopher Lindberg, Alexander Lossos, Nigel F Clarke, Ingrid Mazanti, Leigh B Waddell, Yakov Fellig, Nicola Foulds, Haider Katifi, Richard Webster, Olayinka Raheem, Bjarne Udd, Zohar Argov, Anders Oldfors
Eur J Hum Genet. 2014 Jun; 22(6): 801–808. Published online 2013 Nov 6. doi: 10.1038/ejhg.2013.250
PMCID:
PMC4023224
6.
K. van den Dries, M.B.M Meddens, S. de Keijzer, S. Shekhar, V. Subramaniam, C.G. Figdor, A. Cambi
Nat Commun. 2013 Jan 29; 4: 1412. Published online 2013 Jan 29. doi: 10.1038/ncomms2402
PMCID:
PMC3562466
7.
M. Li, A. Lionikas, F. Yu, H. Tajsharghi, A. Oldfors, L. Larsson
Neuromuscul Disord.
Published in final edited form as: Neuromuscul Disord. 2006 Nov; 16(11): 782–791. Published online 2006 Sep 26. doi: 10.1016/j.nmd.2006.07.023
PMCID:
PMC1693964
8.
T Martinsson, N Darin, M Kyllerman, A Oldfors, B Hallberg, J Wahlström
Am J Hum Genet. 1999 May; 64(5): 1420–1426. doi: 10.1086/302375
PMCID:
PMC1377880
9.
Megan Daugherty, Qingwei Luo, Alan J. Sokoloff
J Speech Lang Hear Res.
Published in final edited form as: J Speech Lang Hear Res. 2012 Apr; 55(2): 10.1044/1092-4388(2011/10-0287). Published online 2012 Jan 31. doi: 10.1044/1092-4388(2011/10-0287)
PMCID:
PMC3816748
10.
Britt-Marie Iresjö, Kent Lundholm
J Transl Med. 2012; 10: 238. Published online 2012 Nov 28. doi: 10.1186/1479-5876-10-238
PMCID:
PMC3542095
11.
Jennifer E Bond, Trung Q Ho, Maria Angelica Selim, Cedric L Hunter, Edith V Bowers, Howard Levinson
Lab Invest.
Published in final edited form as: Lab Invest. 2011 Apr; 91(4): 499–508. Published online 2010 Nov 22. doi: 10.1038/labinvest.2010.181
PMCID:
PMC3407540
12.
Christopher Beadle, Marcela C. Assanah, Pascale Monzo, Richard Vallee, Steven S. Rosenfeld, Peter Canoll
Mol Biol Cell. 2008 Aug; 19(8): 3357–3368. doi: 10.1091/mbc.E08-03-0319
PMCID:
PMC2488307
13.
Tommy Martinsson, Anders Oldfors, Niklas Darin, Kerstin Berg, Homa Tajsharghi, Mårten Kyllerman, Jan Wahlström
Proc Natl Acad Sci U S A. 2000 Dec 19; 97(26): 14614–14619. Published online 2000 Dec 12. doi: 10.1073/pnas.250289597
PMCID:
PMC18967
14.
Mark S. Miller, Nicholas G. Bedrin, Philip A. Ades, Bradley M. Palmer, Michael J. Toth
Am J Physiol Cell Physiol. 2015 Mar 15; 308(6): C473–C484. Published online 2015 Jan 7. doi: 10.1152/ajpcell.00158.2014
PMCID:
PMC4360030
15.
Sayan Chakraborty, Mohanan Valiya Veettil, Virginie Bottero, Bala Chandran
Proc Natl Acad Sci U S A. 2012 May 8; 109(19): E1163–E1172. Published online 2012 Apr 16. doi: 10.1073/pnas.1119592109
PMCID:
PMC3358903
16.
P J Barton, M E Buckingham
Biochem J. 1985 Oct 15; 231(2): 249–261. doi: 10.1042/bj2310249
PMCID:
PMC1152739
17.
Wei-Chien Hung, Jessica R. Yang, Christopher L. Yankaskas, Bin Sheng Wong, Pei-Hsun Wu, Carlos Pardo-Pastor, Selma A. Serra, Meng-Jung Chiang, Zhizhan Gu, Denis Wirtz, Miguel A. Valverde, Joy T. Yang, Jin Zhang, Konstantinos Konstantopoulos
Cell Rep.
Published in final edited form as: Cell Rep. 2016 May 17; 15(7): 1430–1441. Published online 2016 May 5. doi: 10.1016/j.celrep.2016.04.035
PMCID:
PMC5341576
18.
William Shyy, Kai Wang, Val C. Sheffield, Jose A. Morcuende
J Pediatr Orthop.
Published in final edited form as: J Pediatr Orthop. 2010 Apr-May; 30(3): 10.1097/BPO.0b013e3181d35e3f. doi: 10.1097/BPO.0b013e3181d35e3f
PMCID:
PMC2913130
19.
Xiaoqing Lu, Jun Chen, Raquel Malumbres, Elena Cubedo Gil, David M. Helfman, Izidore S. Lossos
Blood. 2007 Dec 15; 110(13): 4268–4277. Prepublished online 2007 Sep 6. doi: 10.1182/blood-2007-04-087775
PMCID:
PMC2234785
20.
L Larsson, R L Moss
J Physiol. 1993 Dec; 472: 595–614. doi: 10.1113/jphysiol.1993.sp019964
PMCID:
PMC1160504

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