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

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2020 1
2021 2
2022 1
2023 1
2024 5
2025 3

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

10 results

Results by year

Filters applied: . Clear all
Page 1
TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations.
Kosmanopoulos GP, Donohue JK, Hoke M, Thomas S, Peyton MA, Vo L, Crawford TO, Sadjadi R, Herrmann DN, Yum SW, Reilly MM, Scherer SS, Finkel RS, Lewis RA, Pareyson D, Pisciotta C, Walk D, Shy ME, Sumner CJ; Inherited Neuropathies Consortium - Rare Disease Clinical Research Network; McCray BA. Kosmanopoulos GP, et al. Brain. 2025 Jan 7;148(1):238-251. doi: 10.1093/brain/awae201. Brain. 2025. PMID: 38917025
The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects.
Nagy A, Molay F, Hargadon S, Brito Pires C, Grant N, De La Rosa Abreu L, Chen JY, D'Souza P, Macnamara E, Tifft C, Becker C, Melo De Gusmao C, Khurana V, Neumeyer AM, Eichler FS. Nagy A, et al. Orphanet J Rare Dis. 2024 Feb 20;19(1):79. doi: 10.1186/s13023-024-03083-3. Orphanet J Rare Dis. 2024. PMID: 38378692 Free PMC article.
Humoral response to neurofilaments and dipeptide repeats in ALS progression.
Puentes F, Lombardi V, Lu CH, Yildiz O, Fratta P, Isaacs A, Bobeva Y, Wuu J; ALS Biomarker Consortium; CReATe Consortium; Benatar M, Malaspina A. Puentes F, et al. Ann Clin Transl Neurol. 2021 Sep;8(9):1831-1844. doi: 10.1002/acn3.51428. Epub 2021 Jul 27. Ann Clin Transl Neurol. 2021. PMID: 34318620 Free PMC article.
Aortic Root Dilation and Genotype Associations in Phelan-McDermid Syndrome.
Gluckman J, Levy T, Friedman K, Garces F, Filip-Dhima R, Quinlan A, Iannotti I, Pekar M, Hernandez AL, Nava MT, Kravets E, Siegel A, Bernstein JA, Berry-Kravis E, Powell CM, Soorya LV, Thurm A, Srivastava S, Buxbaum JD, Sahin M, Kolevzon A, Gelb BD; Developmental Synaptopathies Consortium. Gluckman J, et al. Am J Med Genet A. 2025 Jan;197(1):e63872. doi: 10.1002/ajmg.a.63872. Epub 2024 Sep 11. Am J Med Genet A. 2025. PMID: 39257296
Establishing normative data for the evaluation of cognitive performance in Huntington's disease considering the impact of gender, age, language, and education.
Mühlbäck A, Mana J, Wallner M, Frank W, Lindenberg KS, Hoffmann R, Klempířová O, Klempíř J, Landwehrmeyer GB, Bezdicek O; REGISTRY investigators of the European Huntington’s Disease Network, the Enroll-HD investigators. Mühlbäck A, et al. J Neurol. 2023 Oct;270(10):4903-4913. doi: 10.1007/s00415-023-11823-x. Epub 2023 Jun 22. J Neurol. 2023. PMID: 37347292 Free PMC article.
Therapies Used by Children With Primary Ciliary Dyskinesia: A Natural History Study.
Gardner RA, Ferkol TW, Davis SD, Rosenfeld M, Sagel SD, Dell SD, Milla CE, Li L, Lin FC, Sullivan KM, Zariwala MA, Knowles MR, Leigh MW; Genetic Disorders of Mucociliary Clearance Consortium. Gardner RA, et al. Pediatr Pulmonol. 2025 Jan;60(1):e27412. doi: 10.1002/ppul.27412. Epub 2024 Nov 22. Pediatr Pulmonol. 2025. PMID: 39575633