Ramaekers VT - Search Results

1

Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy.

Senderek J, Bergmann C, Ramaekers VT, Nelis E, Bernert G, Makowski A, Züchner S, De Jonghe P, Rudnik-Schöneborn S, Zerres K, Schröder JM. Senderek J, et al. Among authors: ramaekers vt. Brain. 2003 Mar;126(Pt 3):642-9. doi: 10.1093/brain/awg068. Brain. 2003. PMID: 12566285

2

Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia.

Bergmann C, Zerres K, Senderek J, Rudnik-Schoneborn S, Eggermann T, Häusler M, Mull M, Ramaekers VT. Bergmann C, et al. Among authors: ramaekers vt. Brain. 2003 Jul;126(Pt 7):1537-44. doi: 10.1093/brain/awg173. Epub 2003 May 21. Brain. 2003. PMID: 12805098 Review.

3

X-linked dominant Charcot-Marie-Tooth disease: nerve biopsies allow morphological evaluation and detection of connexin32 mutations (Arg15Trp, Arg22Gln).

Senderek J, Bergmann C, Quasthoff S, Ramaekers VT, Schröder JM. Senderek J, et al. Among authors: ramaekers vt. Acta Neuropathol. 1998 May;95(5):443-9. doi: 10.1007/s004010050823. Acta Neuropathol. 1998. PMID: 9600589

4

X-linked dominant Charcot-Marie-Tooth neuropathy: clinical, electrophysiological, and morphological phenotype in four families with different connexin32 mutations(1).

Senderek J, Hermanns B, Bergmann C, Boroojerdi B, Bajbouj M, Hungs M, Ramaekers VT, Quasthoff S, Karch D, Schröder JM. Senderek J, et al. Among authors: ramaekers vt. J Neurol Sci. 1999 Aug 15;167(2):90-101. doi: 10.1016/s0022-510x(99)00146-x. J Neurol Sci. 1999. PMID: 10521546

5

Phenotypic variation of a novel nonsense mutation in the P0 intracellular domain.

Senderek J, Ramaekers VT, Zerres K, Rudnik-Schöneborn S, Schröder JM, Bergmann C. Senderek J, et al. Among authors: ramaekers vt. J Neurol Sci. 2001 Nov 15;192(1-2):49-51. doi: 10.1016/s0022-510x(01)00591-3. J Neurol Sci. 2001. PMID: 11701152

6

Hereditary motor and sensory neuropathy with absence of large myelinated fibers due to absence of large neurons in dorsal root ganglia and anterior horns, clinically associated with deafness, mental retardation, and epilepsy (HMSN-ADM).

Müller HD, Mugler M, Ramaekers VT, Schröder JM. Müller HD, et al. Among authors: ramaekers vt. J Peripher Nerv Syst. 2000 Sep;5(3):147-57. doi: 10.1046/j.1529-8027.2000.00020.x. J Peripher Nerv Syst. 2000. PMID: 11442171

7

Subtotal aplasia of myelinated nerve fibers in the sural nerve.

Schröder JM, Heide G, Ramaekers V, Mortier W. Schröder JM, et al. Neuropediatrics. 1993 Oct;24(5):286-91. doi: 10.1055/s-2008-1071558. Neuropediatrics. 1993. PMID: 8309519

8

A novel neurodevelopmental syndrome responsive to 5-hydroxytryptophan and carbidopa.

Ramaekers VT, Senderek J, Häusler M, Häring M, Abeling N, Zerres K, Bergmann C, Heimann G, Blau N. Ramaekers VT, et al. Mol Genet Metab. 2001 Jun;73(2):179-87. doi: 10.1006/mgme.2001.3187. Mol Genet Metab. 2001. PMID: 11386854 Clinical Trial.

9

Reduced folate transport to the CNS in female Rett patients.

Ramaekers VT, Hansen SI, Holm J, Opladen T, Senderek J, Häusler M, Heimann G, Fowler B, Maiwald R, Blau N. Ramaekers VT, et al. Neurology. 2003 Aug 26;61(4):506-15. doi: 10.1212/01.wnl.0000078939.64774.1b. Neurology. 2003. PMID: 12939425

10

White-matter disease in 18q deletion (18q-) syndrome: magnetic resonance spectroscopy indicates demyelination or increased myelin turnover rather than dysmyelination.

Häusler M, Anhuf D, Schüler H, Ramaekers VT, Thron A, Zerres K, Möller-Hartmann W. Häusler M, et al. Among authors: ramaekers vt. Neuroradiology. 2005 Jan;47(1):83-6. doi: 10.1007/s00234-004-1309-9. Epub 2005 Jan 11. Neuroradiology. 2005. PMID: 15645149

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