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

404 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Genotype-phenotype correlations in recessive titinopathies.
Savarese M, Vihola A, Oates EC, Barresi R, Fiorillo C, Tasca G, Jokela M, Sarkozy A, Luo S, Díaz-Manera J, Ehrstedt C, Rojas-García R, Sáenz A, Muelas N, Lonardo F, Fodstad H, Qureshi T, Johari M, Välipakka S, Luque H, Petiot P, de Munain AL, Pane M, Mercuri E, Torella A, Nigro V, Astrea G, Santorelli FM, Bruno C, Kuntzer T, Illa I, Vílchez JJ, Julien C, Ferreiro A, Malandrini A, Zhao CB, Casar-Borota O, Davis M, Muntoni F, Hackman P, Udd B. Savarese M, et al. Among authors: saenz a. Genet Med. 2020 Dec;22(12):2029-2040. doi: 10.1038/s41436-020-0914-2. Epub 2020 Aug 11. Genet Med. 2020. PMID: 32778822 Free article.
Limb-girdle muscular dystrophy 2A.
Gallardo E, Saenz A, Illa I. Gallardo E, et al. Among authors: saenz a. Handb Clin Neurol. 2011;101:97-110. doi: 10.1016/B978-0-08-045031-5.00006-2. Handb Clin Neurol. 2011. PMID: 21496626 Review.
Copy number variation analysis increases the diagnostic yield in muscle diseases.
Välipakka S, Savarese M, Johari M, Sagath L, Arumilli M, Kiiski K, Sáenz A, de Munain AL, Cobo AM, Pelin K, Udd B, Hackman P. Välipakka S, et al. Among authors: saenz a. Neurol Genet. 2017 Dec 11;3(6):e204. doi: 10.1212/NXG.0000000000000204. eCollection 2017 Dec. Neurol Genet. 2017. PMID: 30238059 Free PMC article.
Gene expression profiling in limb-girdle muscular dystrophy 2A.
Sáenz A, Azpitarte M, Armañanzas R, Leturcq F, Alzualde A, Inza I, García-Bragado F, De la Herran G, Corcuera J, Cabello A, Navarro C, De la Torre C, Gallardo E, Illa I, López de Munain A. Sáenz A, et al. PLoS One. 2008;3(11):e3750. doi: 10.1371/journal.pone.0003750. Epub 2008 Nov 18. PLoS One. 2008. PMID: 19015733 Free PMC article.
404 results