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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

2,789 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1A.
Xu IRL, Danzi MC, Ruiz A, Raposo J, De Jesus YA, Reilly MM, Cortese A, Shy ME, Scherer SS, Herrmann DN, Fridman V, Baets J, Saporta M, Seyedsadjadi R, Stojkovic T, Claeys KG, Patel P, Feely S, Rebelo AP; Inherited Neuropathy Consortium; Dohrn MF, Züchner S. Xu IRL, et al. Among authors: ruiz a. J Peripher Nerv Syst. 2024 Jun;29(2):202-212. doi: 10.1111/jns.12621. Epub 2024 Apr 5. J Peripher Nerv Syst. 2024. PMID: 38581130
Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs.
Rebelo AP, Tomaselli PJ, Medina J, Wang Y, Dohrn MF, Nyvltova E, Danzi MC, Garrett M, Smith SE, Pestronk A, Li C, Ruiz A, Jacobs E, Feely SME, França MC, Gomes MV, Santos DF, Kumar S, Lombard DB, Saporta M, Hekimi S, Barrientos A, Weihl C, Shy ME, Marques W, Zuchner S. Rebelo AP, et al. Among authors: ruiz a. Brain. 2023 Oct 3;146(10):4191-4199. doi: 10.1093/brain/awad158. Brain. 2023. PMID: 37170631 Free PMC article.
BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease.
Rebelo AP, Ruiz A, Dohrn MF, Wayand M, Farooq A, Danzi MC, Beijer D, Aaron B, Vandrovcova J, Houlden H, Matalonga L, Abreu L, Rouleau G, Estiar MA, Van de Vondel L, Gan-Or Z, Baets J, Schüle R, Zuchner S. Rebelo AP, et al. Among authors: ruiz a. Genet Med. 2022 Dec;24(12):2487-2500. doi: 10.1016/j.gim.2022.08.019. Epub 2022 Sep 22. Genet Med. 2022. PMID: 36136088 Free article.
Head-to-Head Comparison of Aptamer- and Antibody-Based Proteomic Platforms in Human Cerebrospinal Fluid Samples from a Real-World Memory Clinic Cohort.
Puerta R, Cano A, García-González P, García-Gutiérrez F, Capdevila M, de Rojas I, Olivé C, Blázquez-Folch J, Sotolongo-Grau O, Miguel A, Montrreal L, Martino-Adami P, Khan A, Orellana A, Sung YJ, Frikke-Schmidt R, Marchant N, Lambert JC, Rosende-Roca M, Alegret M, Fernández MV, Marquié M, Valero S, Tárraga L, Cruchaga C, Ramírez A, Boada M, Smets B, Cabrera-Socorro A, Ruiz A. Puerta R, et al. Among authors: ruiz a. Int J Mol Sci. 2024 Dec 31;26(1):286. doi: 10.3390/ijms26010286. Int J Mol Sci. 2024. PMID: 39796148
Brain-wide cell-type-specific transcriptomic signatures of healthy ageing in mice.
Jin K, Yao Z, van Velthoven CTJ, Kaplan ES, Glattfelder K, Barlow ST, Boyer G, Carey D, Casper T, Chakka AB, Chakrabarty R, Clark M, Departee M, Desierto M, Gary A, Gloe J, Goldy J, Guilford N, Guzman J, Hirschstein D, Lee C, Liang E, Pham T, Reding M, Ronellenfitch K, Ruiz A, Sevigny J, Shapovalova N, Shulga L, Sulc J, Torkelson A, Tung H, Levi B, Sunkin SM, Dee N, Esposito L, Smith KA, Tasic B, Zeng H. Jin K, et al. Among authors: ruiz a. Nature. 2025 Jan 1. doi: 10.1038/s41586-024-08350-8. Online ahead of print. Nature. 2025. PMID: 39743592
Contrasting genetic burden for bipolar disorder: Early onset versus late onset in an older adult bipolar disorder sample.
Montejo L, Sole B, Fico G, Kalman JL, Budde M, Heilbronner U, Oliva V, De Prisco M, Martin-Parra S, Ruiz A, Martinez-Aran A, Adorjan K, Falkai P, Heilbronner M, Kohshour MO, Reich-Erkelenz D, Schaupp SK, Schulte EC, Senner F, Vogl T, Anghelescu IG, Arolt V, Baune BT, Dannlowski U, Dietrich DE, Fallgatter AJ, Figge C, Juckel G, Konrad C, Reimer J, Reininghaus EZ, Schmauß M, Wiltfang J, Zimmermann J, Vieta E, Papiol S, Schulze TG, Torrent C. Montejo L, et al. Among authors: ruiz a. Eur Neuropsychopharmacol. 2024 Dec 22;92:29-37. doi: 10.1016/j.euroneuro.2024.12.001. Online ahead of print. Eur Neuropsychopharmacol. 2024. PMID: 39718074 Free article.
FACEmemory®, an Innovative Self-Administered Online Memory Assessment Tool.
Alegret M, Blazquez-Folch J, Pérez A, Ortega G, Espinosa A, Muñoz N, Sanabria A, García-Gutiérrez F, Alarcon-Martin E, Rosende-Roca M, Vargas L, Tartari JP, Rentz DM, Valero S, Ruiz A, Boada M, Marquié M. Alegret M, et al. Among authors: ruiz a. J Clin Med. 2024 Nov 29;13(23):7274. doi: 10.3390/jcm13237274. J Clin Med. 2024. PMID: 39685733 Free PMC article.
2,789 results