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James P Van Meerbeke

Explore the profile of James P Van Meerbeke including associated specialties, affiliations and a list of published articles. Areas
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Articles 7
Citations 309
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Recent Articles
1.
Sidlak A, Marino R, Van Meerbeke J, Pizon A
Clin Toxicol (Phila) . 2020 May; 59(2):106-110. PMID: 32452214
Background: In cases of ethylene glycol (EG) toxicity requiring hemodialysis (HD), fomepizole is dosed every four hours. HD efficiently clears EG and its toxic metabolites, and it's unclear if multiple...
2.
Tisdale S, Lotti F, Saieva L, Van Meerbeke J, Crawford T, Sumner C, et al.
Cell Rep . 2013 Dec; 5(5):1187-95. PMID: 24332368
Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by a deficiency in the survival motor neuron (SMN) protein. SMN mediates the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs) and...
3.
Van Meerbeke J, Gibbs R, Plasterer H, Miao W, Feng Z, Lin M, et al.
Hum Mol Genet . 2013 Jun; 22(20):4074-83. PMID: 23727836
Spinal muscular atrophy (SMA) is caused by mutations of the survival motor neuron 1 (SMN1) gene, retention of the survival motor neuron 2 (SMN2) gene and insufficient expression of full-length...
4.
Bricceno K, Sampognaro P, Van Meerbeke J, Sumner C, Fischbeck K, Burnett B
Hum Mol Genet . 2012 Jul; 21(20):4448-59. PMID: 22798624
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease caused by mutations in the survival of motor neuron 1 (SMN1) gene and deficient expression of the ubiquitously expressed SMN...
5.
Martinez T, Kong L, Wang X, Osborne M, Crowder M, Van Meerbeke J, et al.
J Neurosci . 2012 Jun; 32(25):8703-15. PMID: 22723710
The inherited motor neuron disease spinal muscular atrophy (SMA) is caused by deficient expression of survival motor neuron (SMN) protein and results in severe muscle weakness. In SMA mice, synaptic...
6.
Van Meerbeke J, Sumner C
Discov Med . 2011 Oct; 12(65):291-305. PMID: 22031667
Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder that causes degeneration of α-motor neurons. Frequently, muscle weakness is very severe causing affected infants to die before reaching two years...
7.
Bosch-Marce M, Wee C, Martinez T, Lipkes C, Choe D, Kong L, et al.
Hum Mol Genet . 2011 Feb; 20(9):1844-53. PMID: 21325354
Spinal muscular atrophy (SMA) is an inherited motor neuron disease caused by the mutation of the survival motor neuron 1 (SMN1) gene and deficiency of the SMN protein. Severe SMA...