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Start Over Author "Verrips A" Journal neuromuscular disorders
14 results on '"Verrips A"'

5. P.182Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: the clinical and molecular spectrum of 244 patients

Author

ten Dam, L., primary, Frankhuizen, W., additional, Linssen, W., additional, Straathof, C., additional, Niks, E., additional, Faber, C., additional, Fock, J., additional, Kuks, J., additional, Brusse, E., additional, de Coo, I., additional, Voermans, N., additional, Verrips, A., additional, Hoogendijk, J., additional, van der Pol, W., additional, Westra, D., additional, de Visser, M., additional, van der Kooi, A., additional, and Ginjaar, H., additional

Published
2019
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8. Cerebrotendinous xanthomatosis

Author

Fons J. M. Gabreëls, A.A.W.M. Gabreëls-Festen, Ron A. Wevers, Antoon J.M. Janssen, Aad Verrips, H.J. ter Laak, Machiel J. Zwarts, and B.G.M. van Engelen

Subjects
medicine.medical_specialty, Pathology, medicine.diagnostic_test, business.industry, Muscle weakness, Sural nerve, Electromyography, medicine.disease, Cerebrotendinous Xanthomatosis, Surgery, Peripheral neuropathy, Mitochondrial respiratory chain, Neurology, Pediatrics, Perinatology and Child Health, Biopsy, Medicine, Neurology (clinical), medicine.symptom, business, Myopathy, Genetics (clinical)
Abstract

Neuromuscular characteristics were documented in ten patients with biochemically and genetically confirmed cerebrotendinous xanthomatosis. An array of genotypes was found in these patients. Only one patient complained of muscle weakness, while clinical signs of peripheral neuropathy were present in six patients. Electromyogram showed predominantly axonal neuropathy in seven patients. Neurogenic changes were seen in muscle biopsies of nine patients. Sural nerve biopsies of three patients showed features of axonal neuropathy. In addition, in one patient, extensive onion bulb formation was seen, which is indicative of a primarily demyelinating process. Five patients had normal mitochondrial respiratory chain enzyme activity. It is concluded that myopathy is not a feature of cerebrotendinous xanthomatosis and that the most prominent neuromuscular abnormality is sensorimotor axonal polyneuropathy.

Published
2000
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11. G.P.9 01 Prevention of oculopharyngeal muscular dystrophy-associated aggregation of nuclear poly(A)-binding protein with an intracellularly expressed camelid-derived antibody domain

Author

S.M. van der Maarel, A. de Kluijver, Peter Verheesen, S. van Koningsbruggen, G.J.B. van Ommen, H. de Haard, and C.T. Verrips

Subjects
biology, Chemistry, biology.organism_classification, medicine.disease, Molecular biology, Domain (software engineering), Oculopharyngeal muscular dystrophy, Neurology, Pediatrics, Perinatology and Child Health, Poly(A)-binding protein, biology.protein, medicine, Neurology (clinical), Antibody, Genetics (clinical), Camelid
Published
2006
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12. P.P.4 01 Glyc-O-genetics of Walker–Warburg syndrome and related disorders

Author

J. van Reeuwijk, Aad Verrips, Enrico Bertini, C. van den Elzen, H Van Bokhoven, Han G. Brunner, Svetlana Maugenre, Pascale Guicheney, Hans Scheffer, Luciano Merlini, and Francesco Muntoni

Subjects
Genetics, Neurology, business.industry, Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), business, Walker–Warburg syndrome, medicine.disease, Genetics (clinical)
Published
2006
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13. G.P.7 05 Reliable and controllable antibody fragment selections from Camelid non-immune libraries

Author

S.M. van der Maarel, Yanchao Huang, A.F. de Groot, Rune R. Frants, Peter Verheesen, H. de Haard, J.T. den Dunnen, Andreas Roussis, Jord C. Stam, Arie J. Verkleij, and C.T. Verrips

Subjects
Immune system, Neurology, biology, Fragment (logic), Pediatrics, Perinatology and Child Health, biology.protein, Neurology (clinical), Antibody, biology.organism_classification, Virology, Genetics (clinical), Camelid
Published
2006
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14. Cerebrotendinous xanthomatosis

Author

Verrips, A, primary, van Engelen, B.G.M, additional, ter Laak, H, additional, Gabreëls-Festen, A, additional, Janssen, A, additional, Zwarts, M, additional, Wevers, R.A, additional, and Gabreëls, F.J.M, additional

Published
2000
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