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

59 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM; Solve-RD Consortium; Laurie S. Demidov G, et al. NPJ Genom Med. 2024 Oct 26;9(1):49. doi: 10.1038/s41525-024-00436-6. NPJ Genom Med. 2024. PMID: 39461972 Free PMC article.
An interconnected data infrastructure to support large-scale rare disease research.
Johansson LF, Laurie S, Spalding D, Gibson S, Ruvolo D, Thomas C, Piscia D, de Andrade F, Been G, Bijlsma M, Brunner H, Cimerman S, Dizjikan FY, Ellwanger K, Fernandez M, Freeberg M, van de Geijn GJ, Kanninga R, Maddi V, Mehtarizadeh M, Neerincx P, Ossowski S, Rath A, Roelofs-Prins D, Stok-Benjamins M, van der Velde KJ, Veal C, van der Vries G, Wadsley M, Warren G, Zurek B, Keane T, Graessner H, Beltran S, Swertz MA, Brookes AJ; Solve-RD consortium. Johansson LF, et al. Gigascience. 2024 Jan 2;13:giae058. doi: 10.1093/gigascience/giae058. Gigascience. 2024. PMID: 39302238 Free PMC article.
Digital Gait Outcomes for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Discriminative, Convergent, and Ecological Validity in a Multicenter Study (PROSPAX).
Beichert L, Ilg W, Kessler C, Traschütz A, Reich S, Santorelli FM, Başak AN, Gagnon C; PROSPAX Consortium; Schüle R, Synofzik M. Beichert L, et al. Among authors: traschutz a. Mov Disord. 2024 Sep;39(9):1544-1555. doi: 10.1002/mds.29876. Epub 2024 Jun 7. Mov Disord. 2024. PMID: 38847438
MRI-ARSACS: An Imaging Index for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) Identification Based on the Multicenter PROSPAX Study.
Scaravilli A, Negroni D, Senatore C, Ugga L, Cosottini M, Ricca I, Bender B, Traschütz A, Başak AN, Vural A, van de Warrenburg BP, Durr A, La Piana R, Timmann D; PROSPAX Consortium; Schüle R, Synofzik M, Santorelli FM, Cocozza S. Scaravilli A, et al. Among authors: traschutz a. Mov Disord. 2024 Aug;39(8):1343-1351. doi: 10.1002/mds.29871. Epub 2024 Jun 7. Mov Disord. 2024. PMID: 38847051
Correction: Prediction of Individual Disease Progression Including Parameter Uncertainty in Rare Neurodegenerative Diseases: The Example of Autosomal-Recessive Spastic Ataxia Charlevoix Saguenay (ARSACS).
Hendrickx N, Mentré F, Traschütz A, Gagnon C, Schüle R; ARCA Study Group; EVIDENCE-R. N. D. consortium; Synofzik M, Comets E. Hendrickx N, et al. Among authors: traschutz a. AAPS J. 2024 May 24;26(4):62. doi: 10.1208/s12248-024-00932-8. AAPS J. 2024. PMID: 38789847 No abstract available.
Item performance of the scale for the assessment and rating of ataxia in rare and ultra-rare genetic ataxias.
Hamdan A, Hooker AC, Chen X, Traschütz A, Schüle R; ARCA Study Group; EVIDENCE‐RND consortium; Synofzik M, Karlsson MO. Hamdan A, et al. Among authors: traschutz a. CPT Pharmacometrics Syst Pharmacol. 2024 Aug;13(8):1327-1340. doi: 10.1002/psp4.13162. Epub 2024 May 21. CPT Pharmacometrics Syst Pharmacol. 2024. PMID: 38769902 Free PMC article.
Prediction of Individual Disease Progression Including Parameter Uncertainty in Rare Neurodegenerative Diseases: The Example of Autosomal-Recessive Spastic Ataxia Charlevoix Saguenay (ARSACS).
Hendrickx N, Mentré F, Traschütz A, Gagnon C, Schüle R; ARCA Study Group; EVIDENCE-R. N. D. consortium; Synofzik M, Comets E. Hendrickx N, et al. Among authors: traschutz a. AAPS J. 2024 Apr 30;26(3):57. doi: 10.1208/s12248-024-00925-7. AAPS J. 2024. PMID: 38689016
59 results