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

329 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. 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
A Patient with neonatal cholestasis.
Claeys KG, Breysem L, Legius E, Brems H, Cassiman D, Moisse M, Vermeersch P, Levtchenko E, Jaeken J. Claeys KG, et al. J Mother Child. 2021 Jul 16;24(4):31-33. doi: 10.34763/jmotherandchild.20202404.d-20-00012. J Mother Child. 2021. PMID: 33684277 Free PMC article.
Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.
Schiava M, Ikenaga C, Villar-Quiles RN, Caballero-Ávila M, Topf A, Nishino I, Kimonis V, Udd B, Schoser B, Zanoteli E, Souza PVS, Tasca G, Lloyd T, Lopez-de Munain A, Paradas C, Pegoraro E, Nadaj-Pakleza A, De Bleecker J, Badrising U, Alonso-Jiménez A, Kostera-Pruszczyk A, Miralles F, Shin JH, Bevilacqua JA, Olivé M, Vorgerd M, Kley R, Brady S, Williams T, Domínguez-González C, Papadimas GK, Warman-Chardon J, Claeys KG, de Visser M, Muelas N, LaForet P, Malfatti E, Alfano LN, Nair SS, Manousakis G, Kushlaf HA, Harms MB, Nance C, Ramos-Fransi A, Rodolico C, Hewamadduma C, Cetin H, García-García J, Pál E, Farrugia ME, Lamont PJ, Quinn C, Nedkova-Hristova V, Peric S, Luo S, Oldfors A, Taylor K, Ralston S, Stojkovic T, Weihl C, Diaz-Manera J; VCP International Study Group; VCP International Study Group. Schiava M, et al. Among authors: claeys kg. J Neurol Neurosurg Psychiatry. 2022 Jul 27:jnnp-2022-328921. doi: 10.1136/jnnp-2022-328921. Online ahead of print. J Neurol Neurosurg Psychiatry. 2022. PMID: 35896379 Free PMC article.
Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening.
Brison N, Storms J, Villela D, Claeys KG, Dehaspe L, de Ravel T, De Waele L, Goemans N, Legius E, Peeters H, Van Esch H, Race V, Robert Vermeesch J, Devriendt K, Van Den Bogaert K. Brison N, et al. Among authors: claeys kg. Genet Med. 2019 Dec;21(12):2774-2780. doi: 10.1038/s41436-019-0564-4. Epub 2019 Jun 14. Genet Med. 2019. PMID: 31197268 Free article.
Congenital myopathies: an update.
Claeys KG. Claeys KG. Dev Med Child Neurol. 2020 Mar;62(3):297-302. doi: 10.1111/dmcn.14365. Epub 2019 Oct 2. Dev Med Child Neurol. 2020. PMID: 31578728 Free article. Review.
Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene.
Claeys KG, Fardeau M, Schröder R, Suominen T, Tolksdorf K, Behin A, Dubourg O, Eymard B, Maisonobe T, Stojkovic T, Faulkner G, Richard P, Vicart P, Udd B, Voit T, Stoltenburg G. Claeys KG, et al. Neuromuscul Disord. 2008 Aug;18(8):656-66. doi: 10.1016/j.nmd.2008.06.367. Epub 2008 Jul 23. Neuromuscul Disord. 2008. PMID: 18653338
329 results