Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

61 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome.
Stafki SA, Turner J, Littel HR, Bruels CC, Truong D, Knirsch U, Stettner GM, Graf U, Berger W, Kinali M, Jungbluth H, Pacak CA, Hughes J, Mirchi A, Derksen A, Vincent-Delorme C, Theil AF, Bernard G, Ellis D, Fassihi H, Lehmann AR, Laugel V, Mohammed S, Kang PB. Stafki SA, et al. Among authors: pacak ca. Pediatr Neurol. 2023 Apr;141:79-86. doi: 10.1016/j.pediatrneurol.2023.01.011. Epub 2023 Jan 24. Pediatr Neurol. 2023. PMID: 36791574 Free PMC article.
Peripheral neuropathies associated with DNA repair disorders.
Maguina M, Kang PB, Tsai AC, Pacak CA. Maguina M, et al. Among authors: pacak ca. Muscle Nerve. 2023 Feb;67(2):101-110. doi: 10.1002/mus.27721. Epub 2022 Oct 3. Muscle Nerve. 2023. PMID: 36190439 Free PMC article. Review.
The Notch signaling pathway in skeletal muscle health and disease.
Vargas-Franco D, Kalra R, Draper I, Pacak CA, Asakura A, Kang PB. Vargas-Franco D, et al. Among authors: pacak ca. Muscle Nerve. 2022 Nov;66(5):530-544. doi: 10.1002/mus.27684. Epub 2022 Aug 15. Muscle Nerve. 2022. PMID: 35968817 Free PMC article. Review.
Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy.
Bruels CC, Littel HR, Daugherty AL, Stafki S, Estrella EA, McGaughy ES, Truong D, Badalamenti JP, Pais L, Ganesh VS, O'Donnell-Luria A, Stalker HJ, Wang Y, Collins C, Behlmann A, Lemmers RJLF, van der Maarel SM, Laine R, Ghosh PS, Darras BT, Zingariello CD, Pacak CA, Kunkel LM, Kang PB. Bruels CC, et al. Among authors: pacak ca. Ann Clin Transl Neurol. 2022 Aug;9(8):1302-1309. doi: 10.1002/acn3.51612. Epub 2022 Jun 23. Ann Clin Transl Neurol. 2022. PMID: 35734998 Free PMC article.
Resistance exercise training with protein supplementation improves skeletal muscle strength and improves quality of life in late adolescents and young adults with Barth syndrome: A pilot study.
Bohnert KL, Ditzenberger G, Bittel AJ, de Las Fuentes L, Corti M, Pacak CA, Taylor C, Byrne BJ, Reeds DN, Cade WT. Bohnert KL, et al. Among authors: pacak ca. JIMD Rep. 2021 Aug 9;62(1):74-84. doi: 10.1002/jmd2.12244. eCollection 2021 Nov. JIMD Rep. 2021. PMID: 34765401 Free PMC article.
61 results