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Items: 1 to 20 of 276

1.

The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.

Reddy HM, Cho KA, Lek M, Estrella E, Valkanas E, Jones MD, Mitsuhashi S, Darras BT, Amato AA, Lidov HG, Brownstein CA, Margulies DM, Yu TW, Salih MA, Kunkel LM, MacArthur DG, Kang PB.

J Hum Genet. 2016 Oct 6. doi: 10.1038/jhg.2016.116. [Epub ahead of print]

PMID:
27708273
2.

Reversal of neurobehavioral social deficits in dystrophic mice using inhibitors of phosphodiesterases PDE5A and PDE9A.

Alexander MS, Gasperini MJ, Tsai PT, Gibbs DE, Spinazzola JM, Marshall JL, Feyder MJ, Pletcher MT, Chekler EL, Morris CA, Sahin M, Harms JF, Schmidt CJ, Kleiman RJ, Kunkel LM.

Transl Psychiatry. 2016 Sep 27;6(9):e901. doi: 10.1038/tp.2016.174.

3.

CD82 Is a Marker for Prospective Isolation of Human Muscle Satellite Cells and Is Linked to Muscular Dystrophies.

Alexander MS, Rozkalne A, Colletta A, Spinazzola JM, Johnson S, Rahimov F, Meng H, Lawlor MW, Estrella E, Kunkel LM, Gussoni E.

Cell Stem Cell. 2016 Dec 1;19(6):800-807. doi: 10.1016/j.stem.2016.08.006.

PMID:
27641304
4.

Reflections on Henry Kunkel outside the laboratory.

Kunkel LM, Kunkel HG Jr.

Clin Immunol. 2016 Jul 18. pii: S1521-6616(16)30172-3. doi: 10.1016/j.clim.2016.07.005. [Epub ahead of print] No abstract available.

PMID:
27438726
5.

Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt.

Reddy HM, Hamed SA, Lek M, Mitsuhashi S, Estrella E, Jones MD, Mahoney LJ, Duncan AR, Cho KA, Macarthur DG, Kunkel LM, Kang PB.

Muscle Nerve. 2016 Oct;54(4):690-5. doi: 10.1002/mus.25094.

PMID:
26934379
6.

A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency.

Jabara HH, Boyden SE, Chou J, Ramesh N, Massaad MJ, Benson H, Bainter W, Fraulino D, Rahimov F, Sieff C, Liu ZJ, Alshemmari SH, Al-Ramadi BK, Al-Dhekri H, Arnaout R, Abu-Shukair M, Vatsayan A, Silver E, Ahuja S, Davies EG, Sola-Visner M, Ohsumi TK, Andrews NC, Notarangelo LD, Fleming MD, Al-Herz W, Kunkel LM, Geha RS.

Nat Genet. 2016 Jan;48(1):74-8. doi: 10.1038/ng.3465.

7.

Jagged 1 Rescues the Duchenne Muscular Dystrophy Phenotype.

Vieira NM, Elvers I, Alexander MS, Moreira YB, Eran A, Gomes JP, Marshall JL, Karlsson EK, Verjovski-Almeida S, Lindblad-Toh K, Kunkel LM, Zatz M.

Cell. 2015 Nov 19;163(5):1204-13. doi: 10.1016/j.cell.2015.10.049.

8.

The Pathogenesis and Therapy of Muscular Dystrophies.

Guiraud S, Aartsma-Rus A, Vieira NM, Davies KE, van Ommen GJ, Kunkel LM.

Annu Rev Genomics Hum Genet. 2015;16:281-308. doi: 10.1146/annurev-genom-090314-025003. Review.

PMID:
26048046
9.

Dystrophic muscle improvement in zebrafish via increased heme oxygenase signaling.

Kawahara G, Gasperini MJ, Myers JA, Widrick JJ, Eran A, Serafini PR, Alexander MS, Pletcher MT, Morris CA, Kunkel LM.

Hum Mol Genet. 2015 Aug 1;24(15):4480-1. doi: 10.1093/hmg/ddv169. No abstract available.

10.

Muscular dystrophy in a family of Labrador Retrievers with no muscle dystrophin and a mild phenotype.

Vieira NM, Guo LT, Estrela E, Kunkel LM, Zatz M, Shelton GD.

Neuromuscul Disord. 2015 May;25(5):363-70. doi: 10.1016/j.nmd.2015.02.012.

PMID:
25813339
11.

Emerging preclinical animal models for FSHD.

Lek A, Rahimov F, Jones PL, Kunkel LM.

Trends Mol Med. 2015 May;21(5):295-306. doi: 10.1016/j.molmed.2015.02.011. Review.

12.
13.

Dystrophin is a tumor suppressor in human cancers with myogenic programs.

Wang Y, Marino-Enriquez A, Bennett RR, Zhu M, Shen Y, Eilers G, Lee JC, Henze J, Fletcher BS, Gu Z, Fox EA, Antonescu CR, Fletcher CD, Guo X, Raut CP, Demetri GD, van de Rijn M, Ordog T, Kunkel LM, Fletcher JA.

Nat Genet. 2014 Jun;46(6):601-6. doi: 10.1038/ng.2974.

14.

MicroRNA-486-dependent modulation of DOCK3/PTEN/AKT signaling pathways improves muscular dystrophy-associated symptoms.

Alexander MS, Casar JC, Motohashi N, Vieira NM, Eisenberg I, Marshall JL, Gasperini MJ, Lek A, Myers JA, Estrella EA, Kang PB, Shapiro F, Rahimov F, Kawahara G, Widrick JJ, Kunkel LM.

J Clin Invest. 2014 Jun;124(6):2651-67. doi: 10.1172/JCI73579.

15.

Fam65b is important for formation of the HDAC6-dysferlin protein complex during myogenic cell differentiation.

Balasubramanian A, Kawahara G, Gupta VA, Rozkalne A, Beauvais A, Kunkel LM, Gussoni E.

FASEB J. 2014 Jul;28(7):2955-69. doi: 10.1096/fj.13-246470.

16.

A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G).

Vieira NM, Naslavsky MS, Licinio L, Kok F, Schlesinger D, Vainzof M, Sanchez N, Kitajima JP, Gal L, Cava├žana N, Serafini PR, Chuartzman S, Vasquez C, Mimbacas A, Nigro V, Pavanello RC, Schuldiner M, Kunkel LM, Zatz M.

Hum Mol Genet. 2014 Aug 1;23(15):4103-10. doi: 10.1093/hmg/ddu127.

17.

Divergent dysregulation of gene expression in murine models of fragile X syndrome and tuberous sclerosis.

Kong SW, Sahin M, Collins CD, Wertz MH, Campbell MG, Leech JD, Krueger D, Bear MF, Kunkel LM, Kohane IS.

Mol Autism. 2014 Feb 24;5(1):16. doi: 10.1186/2040-2392-5-16.

18.

Human skeletal muscle xenograft as a new preclinical model for muscle disorders.

Zhang Y, King OD, Rahimov F, Jones TI, Ward CW, Kerr JP, Liu N, Emerson CP Jr, Kunkel LM, Partridge TA, Wagner KR.

Hum Mol Genet. 2014 Jun 15;23(12):3180-8. doi: 10.1093/hmg/ddu028.

19.

Dystrophic muscle improvement in zebrafish via increased heme oxygenase signaling.

Kawahara G, Gasperini MJ, Myers JA, Widrick JJ, Eran A, Serafini PR, Alexander MS, Pletcher MT, Morris CA, Kunkel LM.

Hum Mol Genet. 2014 Apr 1;23(7):1869-78. doi: 10.1093/hmg/ddt579. Erratum in: Hum Mol Genet. 2015 Aug 1;24(15):4480-1.

20.

Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2.

Mitsuhashi S, Boyden SE, Estrella EA, Jones TI, Rahimov F, Yu TW, Darras BT, Amato AA, Folkerth RD, Jones PL, Kunkel LM, Kang PB.

Neuromuscul Disord. 2013 Dec;23(12):975-80. doi: 10.1016/j.nmd.2013.08.009.

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