Zobrazeno 1 - 10
of 24
pro vyhledávání: '"E M Joosten"'
Autor:
B G, van Engelen, Q H, Leyten, P L, Bernsen, F J, Gabreëls, F, Barkhof, E M, Joosten, B C, Hamel, H J, ter Laak, M B, Ruijs, J R, Cruysberg
Publikováno v:
Annals of neurology. 32(4)
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
Publikováno v:
Nederlands tijdschrift voor geneeskunde. 135(44)
Autor:
H L, Busard, A A, Gabreëls-Festen, W O, Renier, F J, Gabreëls, E M, Joosten, M A, van 't Hof, J B, Rensing
Publikováno v:
Annals of neurology. 29(4)
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
Publikováno v:
Journal of the neurological sciences. 100(1-2)
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
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 52:412-414
Publikováno v:
Clinical neurology and neurosurgery. 80(4)
Some clinical variants of oculopharyngeal dystrophy are known; a rare form is described in this article: the early-adult form of oculopharyngodistal myopathy. The diagnosis was made in 2 patients ((brother and sister) on the grounds of extensive clin
Autor:
W J, Hustinx, J M, Gabreëls, V G, Kirkels, J J, Korten, J M, Scheres, E M, Joosten, F J, Rutten
Publikováno v:
Annales de genetique. 18(1)
This report concerns a trisomy 4p in a mentally retarded girl with multiple congenital anomalies. A translocation between chromsomes Nos. 4 and 15 was discovered in three generations of the patient's pedigree.
Publikováno v:
European neurology. 13(2)
Fifteen well-documented Parkinson patients treated with Madopar were switched to Sinemet for 3 months. The results were measured with an objective test procedure and compared. The effects of Madopar and Sinemet were equal provided th amount of levodo
Autor:
L A, Bastiaensen, S L, Notermans, C H, Ramaekers, B J, van Dijke, E M, Joosten, H H, Jaspar, A M, Stadhouders, C T, Beljaars
Publikováno v:
Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde. 184(1)
A 20-year-old man with the characteristic findings of infantile onset Kearns syndrome is described. Morphological and biochemical investigations proved a mitochondrial disease which we believe to be the cause of the symptoms in various organs. We ass
Publikováno v:
Nederlands tijdschrift voor geneeskunde. 132(14)