Majoie CB - Search Results

1

EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations.

Eggens VR, Barth PG, Niermeijer JM, Berg JN, Darin N, Dixit A, Fluss J, Foulds N, Fowler D, Hortobágyi T, Jacques T, King MD, Makrythanasis P, Máté A, Nicoll JA, O'Rourke D, Price S, Williams AN, Wilson L, Suri M, Sztriha L, Dijns-de Wissel MB, van Meegen MT, van Ruissen F, Aronica E, Troost D, Majoie CB, Marquering HA, Poll-Thé BT, Baas F. Eggens VR, et al. Among authors: majoie cb. Orphanet J Rare Dis. 2014 Feb 13;9:23. doi: 10.1186/1750-1172-9-23. Orphanet J Rare Dis. 2014. PMID: 24524299 Free PMC article.

2

Late onset white matter disease in peroxisome biogenesis disorder.

Barth PG, Gootjes J, Bode H, Vreken P, Majoie CB, Wanders RJ. Barth PG, et al. Among authors: majoie cb. Neurology. 2001 Dec 11;57(11):1949-55. doi: 10.1212/wnl.57.11.1949. Neurology. 2001. PMID: 11769739

3

Neonatal citrullinemia: comparison of conventional MR, diffusion-weighted, and diffusion tensor findings.

Majoie CB, Mourmans JM, Akkerman EM, Duran M, Poll-The BT. Majoie CB, et al. AJNR Am J Neuroradiol. 2004 Jan;25(1):32-5. AJNR Am J Neuroradiol. 2004. PMID: 14729525 Free PMC article.

4

Neuroimaging of peroxisome biogenesis disorders (Zellweger spectrum) with prolonged survival.

Barth PG, Majoie CB, Gootjes J, Wanders RJ, Waterham HR, van der Knaap MS, de Klerk JB, Smeitink J, Poll-The BT. Barth PG, et al. Among authors: majoie cb. Neurology. 2004 Feb 10;62(3):439-44. doi: 10.1212/01.wnl.0000106943.40848.03. Neurology. 2004. PMID: 14872027

5

Spastic diplegia and periventricular white matter abnormalities in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, a defect of isoleucine metabolism: differential diagnosis with hypoxic-ischemic brain diseases.

Poll-The BT, Wanders RJ, Ruiter JP, Ofman R, Majoie CB, Barth PG, Duran M. Poll-The BT, et al. Among authors: majoie cb. Mol Genet Metab. 2004 Apr;81(4):295-9. doi: 10.1016/j.ymgme.2003.11.013. Mol Genet Metab. 2004. PMID: 15059617

6

Peroxisomal biogenesis disorder: comparison of conventional MR imaging with diffusion-weighted and diffusion-tensor imaging findings.

ter Rahe BS, Majoie CB, Akkerman EM, den Heeten GJ, Poll-The BT, Barth PG. ter Rahe BS, et al. Among authors: majoie cb. AJNR Am J Neuroradiol. 2004 Jun-Jul;25(6):1022-7. AJNR Am J Neuroradiol. 2004. PMID: 15205141 Free PMC article.

7

Clinical and biochemical spectrum of D-bifunctional protein deficiency.

Ferdinandusse S, Denis S, Mooyer PA, Dekker C, Duran M, Soorani-Lunsing RJ, Boltshauser E, Macaya A, Gärtner J, Majoie CB, Barth PG, Wanders RJ, Poll-The BT. Ferdinandusse S, et al. Among authors: majoie cb. Ann Neurol. 2006 Jan;59(1):92-104. doi: 10.1002/ana.20702. Ann Neurol. 2006. PMID: 16278854

8

Sequential MR imaging changes in nonketotic hyperglycinemia.

Mourmans J, Majoie CB, Barth PG, Duran M, Akkerman EM, Poll-The BT. Mourmans J, et al. Among authors: majoie cb. AJNR Am J Neuroradiol. 2006 Jan;27(1):208-11. AJNR Am J Neuroradiol. 2006. PMID: 16418385 Free PMC article.

9

MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata.

Bams-Mengerink AM, Majoie CB, Duran M, Wanders RJ, Van Hove J, Scheurer CD, Barth PG, Poll-The BT. Bams-Mengerink AM, et al. Among authors: majoie cb. Neurology. 2006 Mar 28;66(6):798-803; discussion 789. doi: 10.1212/01.wnl.0000205594.34647.d0. Neurology. 2006. PMID: 16567694

10

A case of neonatal dural sinus malformation: clinical symptoms, imaging and neuropathological investigations.

de Haan TR, Padberg RD, Hagebeuk EE, Aronica E, van Rijn RR, Majoie CB, Kok JH. de Haan TR, et al. Among authors: majoie cb. Eur J Paediatr Neurol. 2008 Jan;12(1):41-5. doi: 10.1016/j.ejpn.2007.04.003. Epub 2007 May 29. Eur J Paediatr Neurol. 2008. PMID: 17537653

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