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

85 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Calcitriol in Friedreich Ataxia.
McCormack SE, Weber DR, Lynch DR. McCormack SE, et al. Among authors: weber dr. Mov Disord. 2024 Sep;39(9):1653-1654. doi: 10.1002/mds.29970. Mov Disord. 2024. PMID: 39441134 No abstract available.
Clinical management guidelines for Friedreich ataxia: best practice in rare diseases.
Corben LA, Collins V, Milne S, Farmer J, Musheno A, Lynch D, Subramony S, Pandolfo M, Schulz JB, Lin K, Delatycki MB; Clinical Management Guidelines Writing Group. Corben LA, et al. Orphanet J Rare Dis. 2022 Nov 12;17(1):415. doi: 10.1186/s13023-022-02568-3. Orphanet J Rare Dis. 2022. PMID: 36371255 Free PMC article.
Moving Beyond the 2018 Minimum International Care Considerations for Osteoporosis Management in Duchenne Muscular Dystrophy (DMD): Meeting Report from the 3rd International Muscle-Bone Interactions Meeting 7th and 14th November 2022.
Phung K, Crabtree N, Connolly AM, Furlong P, Hoffman EP, Jackowski SA, Jayash SN, Johnson A, Koujok K, Munns CF, Niks E, Rauch F, Schrader R, Turner C, Vroom E, Weber DR, Wong BL, Guglieri M, Ward LM, Wong SC. Phung K, et al. Among authors: weber dr. J Neuromuscul Dis. 2024;11(1):233-252. doi: 10.3233/JND-230176. J Neuromuscul Dis. 2024. PMID: 37980681 Free PMC article. No abstract available.
Pathogenic variants in PIK3CA are associated with clinical phenotypes of kaposiform lymphangiomatosis, generalized lymphatic anomaly, and central conducting lymphatic anomaly.
Grenier JM, Borst AJ, Sheppard SE, Snyder KM, Li D, Surrey LF, Al-Ibraheemi A, Weber DR, Treat JR, Smith CL, Laje P, Dori Y, Adams DM, Acord M, Srinivasan AS. Grenier JM, et al. Among authors: weber dr. Pediatr Blood Cancer. 2023 May 17:e30419. doi: 10.1002/pbc.30419. Online ahead of print. Pediatr Blood Cancer. 2023. PMID: 37194624 Free PMC article.
85 results