van der Kooi AJ - Search Results

1

Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort.

de Bruyn A, Montagnese F, Holm-Yildiz S, Scharff Poulsen N, Stojkovic T, Behin A, Palmio J, Jokela M, De Bleecker JL, de Visser M, van der Kooi AJ, Ten Dam L, Domínguez González C, Maggi L, Gallone A, Kostera-Pruszczyk A, Macias A, Łusakowska A, Nedkova V, Olive M, Álvarez-Velasco R, Wanschitz J, Paradas C, Mavillard F, Querin G, Fernández-Eulate G, Quinlivan R, Walter MC, Depuydt CE, Udd B, Vissing J, Schoser B, Claeys KG. de Bruyn A, et al. Among authors: van der kooi aj. Brain. 2023 Sep 1;146(9):3800-3815. doi: 10.1093/brain/awad088. Brain. 2023. PMID: 36913258

2

Limb girdle muscular dystrophy: reappraisal of a rejected entity.

van der Kooi AJ, de Visser M, Barth PG. van der Kooi AJ, et al. Clin Neurol Neurosurg. 1994 Aug;96(3):209-18. doi: 10.1016/0303-8467(94)90070-1. Clin Neurol Neurosurg. 1994. PMID: 7988088 Review.

3

A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement.

van der Kooi AJ, Ledderhof TM, de Voogt WG, Res CJ, Bouwsma G, Troost D, Busch HF, Becker AE, de Visser M. van der Kooi AJ, et al. Ann Neurol. 1996 May;39(5):636-42. doi: 10.1002/ana.410390513. Ann Neurol. 1996. PMID: 8619549 Free article.

4

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

5

Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21.

van der Kooi AJ, van Meegen M, Ledderhof TM, McNally EM, de Visser M, Bolhuis PA. van der Kooi AJ, et al. Among authors: van meegen m. Am J Hum Genet. 1997 Apr;60(4):891-5. Am J Hum Genet. 1997. PMID: 9106535 Free PMC article.

6

The heart in limb girdle muscular dystrophy.

van der Kooi AJ, de Voogt WG, Barth PG, Busch HF, Jennekens FG, Jongen PJ, de Visser M. van der Kooi AJ, et al. Heart. 1998 Jan;79(1):73-7. doi: 10.1136/hrt.79.1.73. Heart. 1998. PMID: 9505924 Free PMC article.

7

Limb girdle muscular dystrophy: a pathological and immunohistochemical reevaluation.

van der Kooi AJ, Ginjaar HB, Busch HF, Wokke JH, Barth PG, de Visser M. van der Kooi AJ, et al. Muscle Nerve. 1998 May;21(5):584-90. doi: 10.1002/(sici)1097-4598(199805)21:5<584::aid-mus4>3.0.co;2-4. Muscle Nerve. 1998. PMID: 9572237

8

A novel gamma-sarcoglycan mutation causing childhood onset, slowly progressive limb girdle muscular dystrophy.

van der Kooi AJ, de Visser M, van Meegen M, Ginjaar HB, van Essen AJ, Jennekens FG, Jongen PJ, Leschot NJ, Bolhuis PA. van der Kooi AJ, et al. Among authors: van essen aj, van meegen m. Neuromuscul Disord. 1998 Jun;8(5):305-8. doi: 10.1016/s0960-8966(98)00040-6. Neuromuscul Disord. 1998. PMID: 9673983

9

Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B).

Muchir A, Bonne G, van der Kooi AJ, van Meegen M, Baas F, Bolhuis PA, de Visser M, Schwartz K. Muchir A, et al. Among authors: van der kooi aj, van meegen m. Hum Mol Genet. 2000 May 22;9(9):1453-9. doi: 10.1093/hmg/9.9.1453. Hum Mol Genet. 2000. PMID: 10814726

10

Extension of the clinical range of facioscapulohumeral dystrophy: report of six cases.

van der Kooi AJ, Visser MC, Rosenberg N, van den Berg-Vos R, Wokke JH, Bakker E, de Visser M. van der Kooi AJ, et al. Among authors: van den berg vos r. J Neurol Neurosurg Psychiatry. 2000 Jul;69(1):114-6. doi: 10.1136/jnnp.69.1.114. J Neurol Neurosurg Psychiatry. 2000. PMID: 10864616 Free PMC article.

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