Zobrazeno 1 - 10
of 319
pro vyhledávání: '"A. Gabreëls-Festen"'
Autor:
Hans W. Müller, Ueli Suter, Christine Van Broeckhoven, O. Haneman, E. Nelis, V. Timmerman, S. Sancho, L. Barrio, P. Bolhuis, R. Dermietzel, M. Frank, A. Gabreëls-Festen, C. Gillen, N. Haites, G. Levi, E. Mariman, R. Martini, K. Nave, B. Rautenstrauss, M. Schachner, A. Schenone, C. Schneider, M. Schröder, K. Willecke
Publikováno v:
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://doaj.org/article/9f049ec01c554906b50a3476d82e1efa
Publikováno v:
Annals of the New York Academy of Sciences. 883(1)
The study of the morphological phenotypes in patients with different mutations of the PMP22 gene gives additional insights into the role of the protein in myelin function. The pathology in young patients is in some aspects different from the patholog
Publikováno v:
European Journal of Human Genetics, 4, 1, pp. 25-33
European Journal of Human Genetics, 4, 25-33
European Journal of Human Genetics, 4, 25-33
Contains fulltext : 23838___.PDF (Publisher’s version ) (Open Access)
Publikováno v:
Current Opinion in Neurology. 15:611-615
Purpose of the review Secondary axonal atrophy is common in most if not all demyelinating neuropathies and is likely responsible for the majority of clinical symptoms. We review clinical, electrophysiological and morphological evidence for secondary
Autor:
N van Alfen, M.J. Zwarts, Peter Praamstra, A Gabreëls-Festen, Berry Kremer, Martin W.I.M. Horstink, Richard J. Sinke
Publikováno v:
Annals of Neurology. 49:805-808
We report on a Dutch family in which 4 members in 2 generations have intermediate repeat lengths (53 and 54) for Machado-Joseph Disease/Spinocerebellar Ataxia (MJD/SCA3). All but the youngest have a restless legs syndrome with fasciculations and a se
Publikováno v:
Neuromuscular Disorders, 11, 8, pp. 753--6
Neuromuscular Disorders, 11, 753--6
Neuromuscular disorders
Neuromuscular Disorders, 11, 753--6
Neuromuscular disorders
Item does not contain fulltext We describe a family carrying the Thr148Met mutation in the P0 gene. Contrary to other neuropathies caused by myelin gene defects, no demyeliantion could be found in our biopsies. Based on follow up examinations, extens
Autor:
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, B.G.M. van Engelen
Publikováno v:
Neuromuscular Disorders. 10:407-414
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 clinic
Autor:
A.A.W.M. Gabreëls-Festen, Jacques Duysens, Fons J. M. Gabreëls, B.M.H. van Wezel, B.G.M. (Baziel) van Engelen
Publikováno v:
Journal of Neurophysiology, 83, pp. 2980-2986
Journal of Neurophysiology, 83, 2980-2986
Journal of Neurophysiology, 83, 2980-2986
During human gait, transmission of cutaneous reflexes from the foot is controlled specifically according to the phase of the step cycle. These reflex responses can be evoked by nonnociceptive stimuli, and therefore it is thought that the large-myelin
Autor:
Edwin C. M. Mariman, Lilian Eshuis, Fons J. M. Gabreëls, S.E.C. van Beersum, A.A.W.M. Gabreëls-Festen, E. LeGuern, B.G.M. van Engelen
Publikováno v:
Journal of Neurology, Neurosurgery, and Psychiatry, 66, 569-574
Journal of Neurology, Neurosurgery, and Psychiatry, 66, pp. 569-574
Journal of Neurology, Neurosurgery, and Psychiatry, 66, pp. 569-574
OBJECTIVES—To report the occurrence of the autosomal recessive form of demyelinating Charcot-Marie-Tooth disease (CMT) with a locus on chromosome 5q23-33 in six non-related European families, to refine gene mapping, and to define the disease phenot
Publikováno v:
The Journal of Neuroscience, 18, 2, pp. 731-740
The Journal of Neuroscience, 18, 731-740
The Journal of Neuroscience, 18, 731-740
Item does not contain fulltext