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Items: 1 to 20 of 218


Muscle-specific SMN reduction reveals motor neuron-independent disease in spinal muscular atrophy models.

Kim JK, Jha NN, Feng Z, Faleiro MR, Chiriboga CA, Wei-Lapierre L, Dirksen RT, Ko CP, Monani UR.

J Clin Invest. 2020 Feb 10. pii: 131989. doi: 10.1172/JCI131989. [Epub ahead of print]


Biophysical mechanisms for QRS- and QTc-interval prolongation in mice with cardiac expression of expanded CUG-repeat RNA.

Tylock KM, Auerbach DS, Tang ZZ, Thornton CA, Dirksen RT.

J Gen Physiol. 2020 Feb 3;152(2). pii: e201912450. doi: 10.1085/jgp.201912450.


Malignant Hyperthermia Susceptibility.

Rosenberg H, Sambuughin N, Riazi S, Dirksen R.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
2003 Dec 19 [updated 2020 Jan 16].


PharmGKB summary: very important pharmacogene information for CACNA1S.

Sangkuhl K, Dirksen RT, Alvarellos ML, Altman RB, Klein TE.

Pharmacogenet Genomics. 2020 Feb;30(2):34-44. doi: 10.1097/FPC.0000000000000393. No abstract available.


Transverse tubule remodeling enhances Orai1-dependent Ca2+ entry in skeletal muscle.

Michelucci A, Boncompagni S, Pietrangelo L, García-Castañeda M, Takano T, Malik S, Dirksen RT, Protasi F.

Elife. 2019 Oct 28;8. pii: e47576. doi: 10.7554/eLife.47576.



Dirksen RT, Wang W, Sheu SS.

Arch Biochem Biophys. 2019 Jul 15;669:31. doi: 10.1016/ Epub 2019 May 18. No abstract available.


Conservation genetics of the pond bat (Myotis dasycneme) with special focus on the populations in northwestern Germany and in Jutland, Denmark.

Andersen LW, Dirksen R, Nikulina EA, Baagøe HJ, Petersons G, Estók P, Orlov OL, Orlova MV, Gloza-Rausch F, Göttsche M, Fjederholt ET, Krüger F, Elmeros M.

Ecol Evol. 2019 Apr 1;9(9):5292-5308. doi: 10.1002/ece3.5119. eCollection 2019 May.


Mouse model of severe recessive RYR1-related myopathy.

Brennan S, Garcia-Castañeda M, Michelucci A, Sabha N, Malik S, Groom L, Wei LaPierre L, Dowling JJ, Dirksen RT.

Hum Mol Genet. 2019 Sep 15;28(18):3024-3036. doi: 10.1093/hmg/ddz105.


4-Aminopyridine attenuates muscle atrophy after sciatic nerve crush injury in mice.

Yue L, Talukder MAH, Gurjar A, Lee JI, Noble M, Dirksen RT, Chakkalakal J, Elfar JC.

Muscle Nerve. 2019 Aug;60(2):192-201. doi: 10.1002/mus.26516. Epub 2019 May 30.


Isolating a reverse-mode ATP synthase-dependent mechanism of mitoflash activation.

Wei-LaPierre L, Dirksen RT.

J Gen Physiol. 2019 Jun 3;151(6):708-713. doi: 10.1085/jgp.201912358. Epub 2019 Apr 22. No abstract available.


Substrate-dependent and cyclophilin D-independent regulation of mitochondrial flashes in skeletal and cardiac muscle.

Wei-LaPierre L, Ainbinder A, Tylock KM, Dirksen RT.

Arch Biochem Biophys. 2019 Apr 15;665:122-131. doi: 10.1016/ Epub 2019 Mar 11.


Skeletal muscle mitoflashes, pH, and the role of uncoupling protein-3.

McBride S, Wei-LaPierre L, McMurray F, MacFarlane M, Qiu X, Patten DA, Dirksen RT, Harper ME.

Arch Biochem Biophys. 2019 Mar 15;663:239-248. doi: 10.1016/ Epub 2019 Jan 16.


Understanding malignant hyperthermia: each move forward opens our eyes to the distance left to travel.

Dirksen RT, Allen PD, Lopez JR.

Br J Anaesth. 2019 Jan;122(1):8-9. doi: 10.1016/j.bja.2018.10.026. Epub 2018 Nov 27. No abstract available.


Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for the Use of Potent Volatile Anesthetic Agents and Succinylcholine in the Context of RYR1 or CACNA1S Genotypes.

Gonsalves SG, Dirksen RT, Sangkuhl K, Pulk R, Alvarellos M, Vo T, Hikino K, Roden D, Klein TE, Poler SM, Patel S, Caudle KE, Gordon R, Brandom B, Biesecker LG.

Clin Pharmacol Ther. 2019 Jun;105(6):1338-1344. doi: 10.1002/cpt.1319. Epub 2019 Jan 24. Erratum in: Clin Pharmacol Ther. 2019 Dec;106(6):1408.


Addendum: Exercise-dependent formation of new junctions that promote STIM1-Orai1 assembly in skeletal muscle.

Boncompagni S, Michelucci A, Pietrangelo L, Dirksen RT, Protasi F.

Sci Rep. 2018 Nov 27;8(1):17463. doi: 10.1038/s41598-018-33063-0. No abstract available.


Tamoxifen therapy in a murine model of myotubular myopathy.

Maani N, Sabha N, Rezai K, Ramani A, Groom L, Eltayeb N, Mavandadnejad F, Pang A, Russo G, Brudno M, Haucke V, Dirksen RT, Dowling JJ.

Nat Commun. 2018 Nov 19;9(1):4849. doi: 10.1038/s41467-018-07057-5.


Role of STIM1/ORAI1-mediated store-operated Ca2+ entry in skeletal muscle physiology and disease.

Michelucci A, García-Castañeda M, Boncompagni S, Dirksen RT.

Cell Calcium. 2018 Dec;76:101-115. doi: 10.1016/j.ceca.2018.10.004. Epub 2018 Oct 30. Review.


Purinergic Signaling Modulates Survival/Proliferation of Human Dental Pulp Stem Cells.

Zhang S, Ye D, Ma L, Ren Y, Dirksen RT, Liu X.

J Dent Res. 2019 Feb;98(2):242-249. doi: 10.1177/0022034518807920. Epub 2018 Nov 1.


Cardiac metabolic effects of KNa1.2 channel deletion and evidence for its mitochondrial localization.

Smith CO, Wang YT, Nadtochiy SM, Miller JH, Jonas EA, Dirksen RT, Nehrke K, Brookes PS.

FASEB J. 2018 Jun 4:fj201800139R. doi: 10.1096/fj.201800139R. [Epub ahead of print]


Mechanosensitive Gene Regulation by Myocardin-Related Transcription Factors Is Required for Cardiomyocyte Integrity in Load-Induced Ventricular Hypertrophy.

Trembley MA, Quijada P, Agullo-Pascual E, Tylock KM, Colpan M, Dirkx RA Jr, Myers JR, Mickelsen DM, de Mesy Bentley K, Rothenberg E, Moravec CS, Alexis JD, Gregorio CC, Dirksen RT, Delmar M, Small EM.

Circulation. 2018 Oct 23;138(17):1864-1878. doi: 10.1161/CIRCULATIONAHA.117.031788.

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