Zobrazeno 1 - 10 of 162 pro vyhledávání: '"P.A. Bolhuis"'
1
Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)
Autor: Etienne Janssen, Jessica E. Hoogendijk, Stephan Kemp, O.G. Sie, G. W. Hensels, M. de Visser, P.A. Bolhuis, C.E.M. de Die-Smulders
Publikováno v: Human Genetics, 99, 501-505. Springer Verlag
Human genetics, 99(4), 501-505. Springer Verlag
HUMAN GENETICS, 99(4), 501-505. SPRINGER
Single-strand conformational polymorphisms (SSCP) of the connexin32 gene were analyzed in 121 patients possibly affected by Charcot-Marie-Tooth (CMT) disease. The 121 patients were selected from 443 possible CMT/HNPP (hereditary neuropathy with liabi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5de96608f4ca9ce6b5d8fb7794766a5d
https://doi.org/10.1007/s004390050396
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2
Advances in Charcot-Marie-Tooth disease research: cellular function of CMT-related proteins, transgenic animal models, and pathomechanisms
Autor: A.A.W.M. Gabreëls-Festen, C. Van Broeckhoven, G. Levi, Hans Werner Müller, A. Schenone, M. Frank, K. Willecke, R. Martini, Vincent Timmerman, B. Rautenstrauss, R. Dermietzel, C. Schneider, N. Haites, O. Haneman, Edwin C. M. Mariman, Ueli Suter, C. Gillen, M. Schröder, Eva Nelis, M. Schachner, S. Sancho, Klaus-Armin Nave, L. Barrio, P.A. Bolhuis
Publikováno v: Neurobiology of disease
Neurobiology of Disease, 4, pp. 215-220
Neurobiology of Disease, 4, 3, pp. 215-220
Neurobiology of Disease, 4, 215-220
Neurobiology of Disease, Vol 4, Iss 3, Pp 215-220 (1997)
The First Workshop of the European Consortium on Charcot–Marie–Tooth (CMT) disease brought together neuroscientists, molecular and cell biologists, neuropathologists, neurologists, and geneticists with a common interest in the understanding of th
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d214288d0ee7fb3c76efd340caae4259
https://hdl.handle.net/2066/188858
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3
Inherited demyelinating peripheral neuropathies: Relating myelin packing abnormalities to P0 molecular defects
Autor: Daniel A. Kirschner, A.A.W.M. Gabreëls-Festen, J.E. Hoogendijk, K. Szumowski, P.A. Bolhuis
Publikováno v: Journal of Neuroscience Research. 46:502-508
P0-glycoprotein, the major integral membrane protein of peripheral nerve myelin, is thought to mediate myelination and membrane interactions via its extracellular domain (P0-ED). Molecular modeling of P0-ED has suggested which of its amino acid side-
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7ddae82a86ca18cd90987248fff95994
https://doi.org/10.1002/(sici)1097-4547(19961115)46:4<502::aid-jnr12>3.0.co
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4
Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations
Autor: P.A. Bolhuis, E.J.H.M. Eshuis, Fons J. M. Gabreëls, Linda J. Valentijn, J.E. Hoogendijk, A.A.W.M. Gabreëls-Festen
Publikováno v: Acta Neuropathologica, 90, 6, pp. 645-649
Acta Neuropathologica, 90, 645-649
Acta neuropathologica, 90(6), 645-649. Springer Verlag
Acta Neuropathologica, 90, pp. 645-649
Charcot-Marie-Tooth disease type 1A (CMT1A) or hereditary motor and sensory neuropathy type Ia (HMSN type Ia) is an autosomal dominant demyelinating polyneuropathy, which may result from duplications as large as 1.5 Mb on chromosome 17p 11.2-p12 enco
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50a89a5ea5c1d9cbfee844763c111059
https://pubmed.ncbi.nlm.nih.gov/8615087
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6
Chronic inflammatory demyelinating polyneuropathy or hereditary motor and sensory neuropathy? Diagnostic value of morphological criteria
Autor: P.A. Bolhuis, J.E. Hoogendijk, A. A. W. M. Gabreëls-Festen, P. J. H. Jongen, Fons J. M. Gabreëls, H. M. Vingerhoets
Publikováno v: Acta neuropathologica. 86(6)
The pathological changes generally considered to distinguish chronic inflammatory demyelinating polyneuropathy (CIDP) from hereditary motor and sensory neuropathy (HMSN) are: mononuclear cell infiltrates, prominent endoneurial oedema, and marked fasc
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::582a5196331b233fb09b0bf5307d218f
https://pubmed.ncbi.nlm.nih.gov/8310819
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7
Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)
Autor: P Raeymaekers, V Timmerman, E Nelis, P De Jonghe, J.E Hoogenduk, F Baas, D.F Barker, J.J Martin, M De Visser, P.A Bolhuis, C Van Broeckhoven
Publikováno v: Neuromuscular disorders
Hereditary motor and sensory neuropathy type I (HMSN I) or Charcot-Marie-Tooth disease type 1 (CMT 1) is an autosomal dominant disorder of the peripheral nervous system characterized by progressive weakness and atrophy of distal limb muscles. In the
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2cde01c20c8396e601113627008cba81
https://hdl.handle.net/10067/7880151162165141
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9
Peroxisomes and peroxisomal functions in muscle
Autor: Ruud B.H. Schutgens, H. van den Bosch, P.A. Bolhuis, Peter G. Barth, C. W. T. van Roermund, R. J. A. Wanders, R. Wolterman, Rob Ofman, Joseph M. Tager
Publikováno v: Experimental Cell Research. 170:147-152
In the present study we investigated peroxisomal functions in cultured human muscle cells from control subjects and from a patient with the Zellweger syndrome, a genetic disease characterized by the absence of morphologically distinguishable peroxiso
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::595b73331d9d08dbcfa80be9d51eebd6
https://doi.org/10.1016/0014-4827(87)90123-6
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10
Anodic reactions of 9,10-diphenylanthracene and rubrene with methylisocyanide, triethylamine, n-butylamine and pyridine
Autor: P.A. Bolhuis
Publikováno v: Journal of Electroanalytical Chemistry and Interfacial Electrochemistry. 110:285-294
Anodic cyclic voltammetry of 9,10-diphenylanthracene (DPA) and rubrene (R) in the presence of methylisocyanide demonstrated catalytic reactions, in the case of DPA with a rate constant of 2.0±0.1 M−1 s−1 and for R one order of magnitude slower.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a9dee0da3babd9fb02c0e9d7a9dfedf7
https://doi.org/10.1016/s0022-0728(80)80380-9
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