Zobrazeno 1 - 10
of 10
pro vyhledávání: '"H. B. Ginjaar"'
Autor:
J C, van den Bergen, H B, Ginjaar, A J, van Essen, R, Pangalila, I J M, de Groot, P J, Wijkstra, M P, Zijnen, N A M, Cobben, M J, Kampelmacher, B H A, Wokke, I F M, de Coo, J M, Fock, A M C, Horemans, M, van Tol, E, Vroom, M E B, Rijlaarsdam, C S M, Straathof, E H, Niks, J J G M, Verschuuren
Publikováno v:
Journal of neuromuscular diseases. 1(1)
Duchenne muscular dystrophy (DMD) is a progressive muscle disease. No curative therapy is currently available, but in recent decades standards of care have improved. These improvements include the use of corticosteroids and mechanical ventilation.To
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9ac9903fe763610bd21edc9dbec33ead
https://pubmed.ncbi.nlm.nih.gov/27858664
https://pubmed.ncbi.nlm.nih.gov/27858664
Autor:
Manuel Roig, Bru Cormand, Alfons Macaya, H. B. Ginjaar, Roser Corominas, E. Cuenca-Leon, Noèlia Fernàndez-Castillo, José Antonio Arranz, Lucas Brunso
Publikováno v:
Neuropediatrics. 36:389-394
We report a newborn with exaggerated startle reactions and stiffness of neonatal onset, the prototypical signs of hyperekplexia. Startle and flexor spasms, leading to apnoea, did not respond to treatment with clonazepam but did partially to sodium va
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f300cc4bff5e91b65f0f913578c065cf
https://doi.org/10.1055/s-2005-872877
https://doi.org/10.1055/s-2005-872877
Publikováno v:
Nederlands tijdschrift voor geneeskunde. 150(45)
A 22-month-old girl had cramps and stiffness of her muscles. After medical history, physical examination and an EMG, a short differential diagnosis based on the symptoms of myotonia was made. Initially, the symptoms were incorrectly assumed to be due
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5e5f0fe463067e9b90ef9753ce1bd68c
https://pubmed.ncbi.nlm.nih.gov/17137100
https://pubmed.ncbi.nlm.nih.gov/17137100
Publikováno v:
Nederlands tijdschrift voor geneeskunde. 149(38)
Channelopathies are a heterogeneous group of genetic diseases in which a defective ion channel is responsible for the symptoms. They manifest as diseases of the heart, brain or skeletal muscle. Hereditary skeletal-muscle channelopathies are character
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5084a23b7007da8a230dfe893d3b45c7
https://pubmed.ncbi.nlm.nih.gov/16201598
https://pubmed.ncbi.nlm.nih.gov/16201598
Publikováno v:
Nederlands tijdschrift voor geneeskunde. 148(21)
Hypokalaemic periodic paralysis is an autosomal, dominantly inherited disorder, characterised by attacks of partial or total muscle weakness and serum hypokalaemia. the mutations responsible are located in the CACNA1S gene (type 1) and in the SCN4A g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ba03cf4e52a13d7b48f7de3e0d4a9759
https://pubmed.ncbi.nlm.nih.gov/15185439
https://pubmed.ncbi.nlm.nih.gov/15185439
Publikováno v:
Nederlands tijdschrift voor geneeskunde. 144(46)
Duchenne and Becker muscular dystrophy are caused by a mutation in the dystrophin gene, located on the short arm of the X chromosome. Three so called dystrophinopathy patients, a women aged 54 and two men aged 23 and 21 years, suffered from a severe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1ee91d04aea36850469f648f4d585122
https://pubmed.ncbi.nlm.nih.gov/11103252
https://pubmed.ncbi.nlm.nih.gov/11103252
Autor:
T, Peelen, W, de Leeuw, K, van Lent, H, Morreau, R, van Eijk, M, van Vliet, J, Wijnen, M, Ligtenberg, H B, Ginjaar, R, Zweemer, F, Menko, R, Fodde, G J, van Ommen, H F, Vasen, C J, Cornelisse, P, Devilee
Publikováno v:
International journal of cancer. 88(5)
Mutations in the BRCA1 gene cause strongly elevated risks of breast and ovarian cancers but may also confer a 3-fold increased risk for colorectal cancer. To address the relationship between BRCA1 carriership and colorectal tumorigenesis, we studied
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ef60906545fdd5e476bdfc42d9bab891
https://pubmed.ncbi.nlm.nih.gov/11072248
https://pubmed.ncbi.nlm.nih.gov/11072248
Publikováno v:
Musclenerve. 21(5)
Ninety-seven muscle biopsies from 81 limb girdle muscular dystrophy (LGMD) patients [32 autosomal recessive (AR), 15 autosomal dominant (AD), 34 sporadic] were morphologically reevaluated. Sarcoglycan analysis was done in 37 available muscle biopsies
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::aa0e7ae26653a39d26ad9a066371ddf5
https://pubmed.ncbi.nlm.nih.gov/9572237
https://pubmed.ncbi.nlm.nih.gov/9572237
Publikováno v:
Nederlands tijdschrift voor geneeskunde. 137(2)
The recent progress in molecular genetic studies on Duchenne and Becker muscular dystrophy (DMD, BMD) had an important spin-off for our diagnostic abilities of both muscle disease. The mapping and isolation of the DMD gene which codes for the 427 kD
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::70c77deb14ee5a0f862f09ffa39b67be
https://pubmed.ncbi.nlm.nih.gov/8421530
https://pubmed.ncbi.nlm.nih.gov/8421530
Autor:
J T, Den Dunnen, P M, Grootscholten, E, Bakker, L A, Blonden, H B, Ginjaar, M C, Wapenaar, H M, van Paassen, C, van Broeckhoven, P L, Pearson, G J, van Ommen
Publikováno v:
American journal of human genetics. 45(6)
We have studied 34 Becker and 160 Duchenne muscular dystrophy (DMD) patients with the dystrophin cDNA, using conventional blots and FIGE analysis. One hundred twenty-eight mutations (65%) were found, 115 deletions and 13 duplications, of which 106 de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::270ac0d06d5b2b2f463ea9e85f2c5b0b
https://pubmed.ncbi.nlm.nih.gov/2573997
https://pubmed.ncbi.nlm.nih.gov/2573997