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Items: 3

1.

The expanding spectrum of neurological disorders of phosphoinositide metabolism.

Volpatti JR, Al-Maawali A, Smith L, Al-Hashim A, Brill JA, Dowling JJ.

Dis Model Mech. 2019 Aug 13;12(8). pii: dmm038174. doi: 10.1242/dmm.038174. Review.

2.

Signs and Symptoms in Congenital Myopathies.

Gonorazky HD, Dowling JJ, Volpatti JR, Vajsar J.

Semin Pediatr Neurol. 2019 Apr;29:3-11. doi: 10.1016/j.spen.2019.01.002. Epub 2019 Jan 16.

PMID:
31060723
3.

PIK3C2B inhibition improves function and prolongs survival in myotubular myopathy animal models.

Sabha N, Volpatti JR, Gonorazky H, Reifler A, Davidson AE, Li X, Eltayeb NM, Dall'Armi C, Di Paolo G, Brooks SV, Buj-Bello A, Feldman EL, Dowling JJ.

J Clin Invest. 2016 Sep 1;126(9):3613-25. doi: 10.1172/JCI86841. Epub 2016 Aug 22.

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