Zobrazeno 1 - 10
of 68
pro vyhledávání: '"M. G. Joosten"'
Autor:
L. A. K. Bastiaensen, E. M. G. Joosten, H. H. J. Jaspar, J.H. Veerkamp, J. A. M. De Rooij, O. R. Hommes, H. Bookelman, V.W.M. van Hinsbergh, A. M. Stadhouders
Publikováno v:
Acta Neurologica Scandinavica. 58:9-34
Four patients with chronic progressive external ophthalmoplegia (c.p.e.o.), retinal, neurological, endocrine and auditory anomalies, three of whom showed signs of cardio-myopathy, are described. On biochemical examination signs of disturbed pyruvate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::746b31ae4d898eceab36bc9a021a31e3
https://doi.org/10.1111/j.1600-0404.1978.tb02856.x
https://doi.org/10.1111/j.1600-0404.1978.tb02856.x
Autor:
B.W. Ongerboer de Visser, E. M. G. Joosten, Emiel A. M. Janssen, Linda J. Valentijn, Frank Baas, M. de Visser, A.A.W.M. Gabreëls-Festen, G. W. Hensels, F. J. M. Gabreëls, Pieter A. Bolhuis, Jessica E. Hoogendijk, I. Zorn
Publikováno v:
Neurology, 43(5), 1010-1015. Lippincott Williams and Wilkins
The most frequently found mutation in autosomal dominant hereditary motor and sensory neuropathy type I (HMSN I) is a large duplication on chromosome 17p11.2 containing probes VAW409R3, VAW412R3, and EW401. We investigated a family with severe featur
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fceb673bff2902231533546eafda398d
https://doi.org/10.1212/wnl.43.5.1010
https://doi.org/10.1212/wnl.43.5.1010
Autor:
Baziel G.M. van Engelen, E. M. G. Joosten, Jaap Valk, Ben C.J. Hamel, Frederik Barkhof, Fons J. M. Gabreëls, Henk J. ter Laak, Mechelien B. M. Ruijs, P. L. J. A. Bernsen, Q.H. Leyten, Johan R. M. Cruysberg
Publikováno v:
Annals of Neurology. 32:577-580
We report on 3 siblings with an adult-onset, predominantly distal muscle weakness. In the female index patient this was associated with epilepsy and a progressive spastic ataxic gait, while the 2 other siblings had no appreciable clinical nervous sys
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::585e878bcf94f337f2b4f4d12792f84b
https://doi.org/10.1002/ana.410320415
https://doi.org/10.1002/ana.410320415
Autor:
F.G.I. Jennekens, T. W.Janssen-van Kempen, Fons J. M. Gabreëls, E. M. G. Joosten, A.A.W.M. Gabreëls-Festen
Publikováno v:
Journal of the Neurological Sciences. 107:145-154
Seventeen cases of dominantly inherited demyelinating motor and sensory neuropathy (HMSN type I) with infantile onset were studied. Not only clinical and electrophysiological data, but also the g ratio (axon diameter to fibre diameter), considered to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42eb45fce0149b70e6ad3e5584007608
https://doi.org/10.1016/0022-510x(92)90282-p
https://doi.org/10.1016/0022-510x(92)90282-p
Autor:
W. O. Renier, A.A.W.M. Gabreëls-Festen, Fons J. M. Gabreëls, J. B. M. Rensing, M. A. van't Hof, E. M. G. Joosten, H. L. S. M. Busard
Publikováno v:
Annals of Neurology. 29:448-451
The diagnostic value of axilla skin biopsy has been investigated in a patient with adult polyglucosan body disease. The biopsy data have been compared with those of control subjects and with those from previously reported patients with Lafora's disea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f8c9bf312eb2adaf7a4792d4aa3f55ca
https://doi.org/10.1002/ana.410290420
https://doi.org/10.1002/ana.410290420
Publikováno v:
Clinical Neurology and Neurosurgery. 93:323-326
A girl of 14 year is presented with a distal spinal muscular atrophy (SMA) with autosomal recessive inheritance. The technical findings are in agreement with the diagnosis. Light microscopical examination of sural nerve biopsy, including teased fiber
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d2222e249eaafa1882d388563a69d4b
https://doi.org/10.1016/0303-8467(91)90099-b
https://doi.org/10.1016/0303-8467(91)90099-b
Publikováno v:
Journal of the Neurological Sciences. 100:108-112
Five patients with McArdle's disease entered a double-blind, placebo-controlled, cross-over study of dantrolene sodium. None of the patients experienced beneficial effect of dantrolene sodium medication. Each patient performed 2 exercise tests. Surfa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::978145ee13d0c9a5f6b166783506d896
https://doi.org/10.1016/0022-510x(90)90020-n
https://doi.org/10.1016/0022-510x(90)90020-n
Autor:
E. M. G. Joosten, Peter van Mier, A.A.G.M. Benders, Alga E.M. Jacobs, Arie Oosterhof, Ron A. Wevers, Jacques H. Veerkamp
Publikováno v:
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1096:14-19
Using the fluorescence indicator, quin2, we compared the cytoplasmic Ca 2+ concentration ([Ca 2+ ] i ) of cultured myotubes obtained from control subjects and myotonic dystrophy (MyD) patients. In Ca 2+ -free buffer the [Ca 2+ ] i of the cultured MyD
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fcd7256a0175392c432f9fdc7b395216
https://doi.org/10.1016/0925-4439(90)90006-b
https://doi.org/10.1016/0925-4439(90)90006-b
Publikováno v:
Brain. 113:1779-1793
The origin of fatigue in McArdle's disease is still a matter of debate. Both a reduction of muscle membrane excitability and failure of excitation-contraction (E-C) coupling have been suggested as causes. We performed intermittent isometric biceps br
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f9d1da43e3703c2be4eaf865e790fbf
https://doi.org/10.1093/brain/113.6.1779
https://doi.org/10.1093/brain/113.6.1779
Autor:
H. F. M. Busch, A. J. M. Vos, Dick F. Stegeman, A. A. W. M. Gabreëls-Festen, E. M. G. Joosten, Fons J. M. Gabreëls
Publikováno v:
Brain. 113:1629-1643
Six patients (5 index cases and 1 sib) with a congenital motor and sensory neuropathy are described. The clinical, genetic and electrophysiological features resembled Dejerine-Sottas disease or hereditary motor and sensory neuropathy (HMSN) type III.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e10519fdbdd6bd00c583c97e9556268
https://doi.org/10.1093/brain/113.6.1629
https://doi.org/10.1093/brain/113.6.1629