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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

198 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
CAPN3 c.1746-20C>G variant is hypomorphic for LGMD R1 calpain 3-related.
Mroczek M, Inashkina I, Stavusis J, Zayakin P, Khrunin A, Micule I, Kenina V, Zdanovica A, Zídková J, Fajkusová L, Limborska S, van der Kooi AJ, Brusse E, Leonardis L, Maver A, Pajusalu S, Õunap K, Puusepp S, Dobosz P, Sypniewski M, Burnyte B, Lace B. Mroczek M, et al. Among authors: van der kooi aj. Hum Mutat. 2022 Oct;43(10):1347-1353. doi: 10.1002/humu.24421. Epub 2022 Jun 22. Hum Mutat. 2022. PMID: 35731190
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.
Alonso-Pérez J, González-Quereda L, Bello L, Guglieri M, Straub V, Gallano P, Semplicini C, Pegoraro E, Zangaro V, Nascimento A, Ortez C, Comi GP, Dam LT, De Visser M, van der Kooi AJ, Garrido C, Santos M, Schara U, Gangfuß A, Løkken N, Storgaard JH, Vissing J, Schoser B, Dekomien G, Udd B, Palmio J, D'Amico A, Politano L, Nigro V, Bruno C, Panicucci C, Sarkozy A, Abdel-Mannan O, Alonso-Jimenez A, Claeys KG, Gomez-Andrés D, Munell F, Costa-Comellas L, Haberlová J, Rohlenová M, Elke V, De Bleecker JL, Dominguez-González C, Tasca G, Weiss C, Deconinck N, Fernández-Torrón R, López de Munain A, Camacho-Salas A, Melegh B, Hadzsiev K, Leonardis L, Koritnik B, Garibaldi M, de Leon-Hernández JC, Malfatti E, Fraga-Bau A, Richard I, Illa I, Díaz-Manera J. Alonso-Pérez J, et al. Among authors: van der kooi aj. Brain. 2020 Sep 1;143(9):2696-2708. doi: 10.1093/brain/awaa228. Brain. 2020. PMID: 32875335
The clinical spectrum of limb girdle muscular dystrophy. A survey in The Netherlands.
van der Kooi AJ, Barth PG, Busch HF, de Haan R, Ginjaar HB, van Essen AJ, van Hooff LJ, Höweler CJ, Jennekens FG, Jongen P, Oosterhuis HJ, Padberg GW, Spaans F, Wintzen AR, Wokke JH, Bakker E, van Ommen GJ, Bolhuis PA, de Visser M. van der Kooi AJ, et al. Among authors: van essen aj, van hooff lj, van ommen gj. Brain. 1996 Oct;119 ( Pt 5):1471-80. doi: 10.1093/brain/119.5.1471. Brain. 1996. PMID: 8931572
Randomised controlled trial comparing two different intravenous immunoglobulins in chronic inflammatory demyelinating polyradiculoneuropathy.
Kuitwaard K, van den Berg LH, Vermeulen M, Brusse E, Cats EA, van der Kooi AJ, Notermans NC, van der Pol WL, van Schaik IN, van Nes SI, Hop WC, van Doorn PA. Kuitwaard K, et al. Among authors: van der pol wl, van der kooi aj, van den berg lh, van doorn pa, van schaik in, van nes si. J Neurol Neurosurg Psychiatry. 2010 Dec;81(12):1374-9. doi: 10.1136/jnnp.2010.206599. Epub 2010 Jun 28. J Neurol Neurosurg Psychiatry. 2010. PMID: 20587484 Clinical Trial.
Randomized trial of intravenous immunoglobulin maintenance treatment regimens in chronic inflammatory demyelinating polyradiculoneuropathy.
Kuitwaard K, Brusse E, Jacobs BC, Vrancken AFJE, Eftimov F, Notermans NC, van der Kooi AJ, Fokkink WR, Nieboer D, Lingsma HF, Merkies ISJ, van Doorn PA. Kuitwaard K, et al. Among authors: van der kooi aj, van doorn pa. Eur J Neurol. 2021 Jan;28(1):286-296. doi: 10.1111/ene.14501. Epub 2020 Oct 1. Eur J Neurol. 2021. PMID: 32876962 Free PMC article. Clinical Trial.
198 results