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Novel myophosphorylase mutation (p.Arg94Pro) with progressive exercise intolerance.

Clinical case reports

Nabavi Nouri M, Lamhonwah AM, Tein I.
PMID: 29531726
Clin Case Rep. 2018 Jan 28;6(3):499-501. doi: 10.1002/ccr3.1233. eCollection 2018 Mar.

We present a 16-year-old girl with a unique clinical phenotype characterized by rapidly progressive exercise intolerance, transient exertional weakness, and progressive muscle cramps involving all limbs and bulbar muscles, following a first myoglobinuric episode at age 15 years, arising...

Epilepsy Management in Tuberous Sclerosis Complex: Existing and Evolving Therapies and Future Considerations.

Pediatric neurology

Nabavi Nouri M, Zak M, Jain P, Whitney R.
PMID: 34740132
Pediatr Neurol. 2022 Jan;126:11-19. doi: 10.1016/j.pediatrneurol.2021.09.017. Epub 2021 Sep 30.

Tuberous sclerosis complex (TSC) is a rare autosomal dominant condition that affects multiple body systems. Disruption of the mammalian target of rapamycin (mTOR) pathway results in abnormal cell growth, proliferation, protein synthesis, and cell differentiation and migration in TSC....

Epilepsy Management in Tuberous Sclerosis Complex: Existing and Evolving Therapies and Future Considerations.

Pediatric neurology

Nabavi Nouri M, Zak M, Jain P, Whitney R.
PMID: 34740132
Pediatr Neurol. 2022 Jan;126:11-19. doi: 10.1016/j.pediatrneurol.2021.09.017. Epub 2021 Sep 30.

Tuberous sclerosis complex (TSC) is a rare autosomal dominant condition that affects multiple body systems. Disruption of the mammalian target of rapamycin (mTOR) pathway results in abnormal cell growth, proliferation, protein synthesis, and cell differentiation and migration in TSC....

Preprint manuscripts and servers in the era of coronavirus disease 2019.

Journal of evaluation in clinical practice

Nabavi Nouri S, Cohen YA, Madhavan MV, Slomka PJ, Iskandrian AE, Einstein AJ.
PMID: 33094906
J Eval Clin Pract. 2021 Feb;27(1):16-21. doi: 10.1111/jep.13498. Epub 2020 Oct 23.

RATIONALE, AIMS, AND OBJECTIVES: To both examine the impact of preprint publishing on health sciences research and survey popular preprint servers amidst the current coronavirus disease 2019 (COVID-19) pandemic.METHODS: The authors queried three biomedical databases (MEDLINE, Web of Science,...

Epilepsy Management in Tuberous Sclerosis Complex: Existing and Evolving Therapies and Future Considerations.

Pediatric neurology

Nabavi Nouri M, Zak M, Jain P, Whitney R.
PMID: 34740132
Pediatr Neurol. 2021 Sep 30;126:11-19. doi: 10.1016/j.pediatrneurol.2021.09.017. Epub 2021 Sep 30.

Tuberous sclerosis complex (TSC) is a rare autosomal dominant condition that affects multiple body systems. Disruption of the mammalian target of rapamycin (mTOR) pathway results in abnormal cell growth, proliferation, protein synthesis, and cell differentiation and migration in TSC....

Showing 1 to 5 of 5 entries