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101. Oculopharyngeal muscular dystrophy with limb girdle weakness as major complaint.

Author

Sluijs, B.M. van der, Hoefsloot, L.H., Padberg, G.W.A.M., Maarel, S.M. van der, Engelen, B.G.M. van, Sluijs, B.M. van der, Hoefsloot, L.H., Padberg, G.W.A.M., Maarel, S.M. van der, and Engelen, B.G.M. van

Abstract

Item does not contain fulltext, This first description of the oculopharyngeal muscular dystrophy (OPMD) phenotype in Dutch patients shows that limb girdle weakness can occur early in the course of disease and can give the first and major complaint in OPMD patients. The aim of this study was to examine clinically, histologically and genetically all Dutch OPMD patients known at the Neuromuscular Centre Nijmegen, to measure the limb girdle weakness (MRC scale) and to quantify the consequences of the limb girdle weakness on daily activities (Rankin scale). Remarkable in this population was the early onset and the severity of the limb girdle weakness. We found a higher percentage of patients with limb girdle weakness than reported before in non-Dutch OPMD populations. This limb girdle weakness caused limitations in daily activities more than the other symptoms of OPMD. It was difficult to compare the severity of the limb girdle weakness of Dutch patients with other patients because of the lack of data related to quantification of limb girdle weakness in non-Dutch OPMD patients. Because of the influence of the limb girdle weakness on the daily activities of the patients, we recommend that more attention is paid to the proximal limb muscles in OPMD patients early in the course of the disease.

Published
2003

102. Mobius syndrome redefined: a syndrome of rhombencephalic maldevelopment.

Author

Verzijl, H.T.F.M., Zwaag, A. van der, Cruysberg, J.R.M., Padberg, G.W.A.M., Verzijl, H.T.F.M., Zwaag, A. van der, Cruysberg, J.R.M., and Padberg, G.W.A.M.

Abstract

Item does not contain fulltext, OBJECTIVE: To investigate the variable clinical picture of Mobius syndrome (MIM no. 157900) and to further understand the pathogenesis of the disorder. METHODS: A standardized questionnaire was submitted to 37 Dutch patients with Mobius syndrome. All underwent standardized neurologic examination with special attention to cranial nerve functions, motor skills, and facial and limb anomalies. RESULTS: Of 37 patients with facial paresis, 97% had bilateral and 3% had unilateral ocular abduction weakness. Further analysis showed isolated abducens nerve palsy in 9%, a conjugated horizontal gaze paresis in 48%, features of Duane retraction syndrome in 34%, and congenital fibrosis of the extraocular muscles in 9%. Other signs included lingual involvement (77%), dysfunction of palate and pharynx (56%), general motor disability (88%), poor coordination (83%), and respiratory abnormalities (19%). CONCLUSION: Mobius syndrome is more than a cranial nerve or nuclear developmental disorder. It is a syndrome of rhombencephalic maldevelopment involving predominantly motor nuclei and axons, as well as traversing long tracts. The authors also noted gaze palsies, Duane retraction syndrome, feeding and respiratory problems, and poor motor development, suggesting a regional developmental disorder.

Published
2003

103. D4F104S1 deletion in facioscapulohumeral muscular dystrophy: phenotype, size, and detection.

Author

Lemmers, R.J.L.F., Osborn, M., Haaf, T., Rogers, M., Frants, R.R., Padberg, G.W.A.M., Cooper, D., Maarel, S.M. van der, Upadhyaya, M., Lemmers, R.J.L.F., Osborn, M., Haaf, T., Rogers, M., Frants, R.R., Padberg, G.W.A.M., Cooper, D., Maarel, S.M. van der, and Upadhyaya, M.

Abstract

Item does not contain fulltext, BACKGROUND: The facioscapulohumeral muscular dystrophy (FSHD) locus maps to 4q35 where it is closely linked to D4F104S1 (p13E-11), a probe that recognizes the pathognomonic FSHD deletion involving the subtelomeric D4Z4 tandem repeat array. Extended deletions that include both the more proximal D4F104S1 region and the D4Z4 repeat array proper do, however, occur, albeit rarely, and such deletions can lead to difficulties of interpretation in the diagnostic setting. OBJECTIVE: To devise a means to determine the true frequency of proximally extended deletions in individuals with FSHD. METHODS: Three families selected for this study were originally identified during routine FSHD analysis on the basis that the affected individuals in each family had failed to exhibit a small (<38-kb) EcoRI fragment. High molecular weight DNA from these families was analyzed with both conventional and pulsed-field gel electrophoresis using DNA markers p13E-11, 9B6A, B31, 4qA, and 4qB. RESULTS: Large genomic deletions were identified involving both D4Z4 and D4F104S1. The precise number of D4Z4 repeat units borne by the p13E11 deletion allele was established by the use of an additional restriction enzyme (MseI) digest. All three cases carry different sizes of deletion proximal to the D4Z4 repeat units. With use of a recently described telomeric probe, 4qA, a method was developed that identifies large genomic deletions involving both D4Z4 and D4F104S1 using conventional gel electrophoresis. CONCLUSION: Proximally extended deletions can be found in patients with a normal spectrum of the disease. This assay promises to allow estimation of the true frequency of proximally extended deletions and should improve the accuracy and reliability of molecular diagnostic testing for FSHD.

Published
2003

104. Possible phenotypic dosage effect in patients compound heterozygous for FSHD-sized 4q35 alleles.

Author

Wohlgemuth, M., Lemmers, R.J.L.F., Kooi, E.L. van der, Wielen, M.J.R. van der, Overveld, P.G, Dauwerse, H.G., Bakker, E., Frants, R.R., Padberg, G.W.A.M., Maarel, S.M. van der, Wohlgemuth, M., Lemmers, R.J.L.F., Kooi, E.L. van der, Wielen, M.J.R. van der, Overveld, P.G, Dauwerse, H.G., Bakker, E., Frants, R.R., Padberg, G.W.A.M., and Maarel, S.M. van der

Abstract

Item does not contain fulltext, OBJECTIVE: Autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) is associated with a contraction of the D4Z4 repeat array on chromosome 4. So far, homozygosity or compound heterozygosity for FSHD alleles has not been described, and it has been debated whether the absence of such subjects is because of the rarity or the lethality of the disorder. METHODS: Two unrelated families in which the probands are compound heterozygous for two FSHD-sized alleles were studied. Clinical examination, pulsed-field gel electrophoresis (PFGE) studies of DNA with probes proximal and distal to D4Z4, and cytogenetic analysis of metaphase chromosomes by FISH were performed. RESULTS: Complementary molecular and cytogenetic approaches confirmed the chromosome 4qA origin of all FSHD-sized repeat arrays that segregate in the families. CONCLUSIONS: Heterozygosity for FSHD-sized alleles is compatible with life in men and women. A possible dosage effect was observed in both probands in whom each 4qA allele contributed to the FSHD phenotype. Because at least one of the FSHD alleles in both families showed an unusual low penetrance, the authors propose that susceptibility for FSHD is partly determined by intrinsic properties of the disease allele other than the residual D4Z4 repeat size alone.

Published
2003

105. Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy.

Author

Overveld, P.G, Lemmers, R.J.L.F., Sandkuijl, L.A., Enthoven, L., Winokur, S.T., Bakels, F., Padberg, G.W.A.M., Ommen, G.J.B. van, Frants, R.R., Maarel, S.M. van der, Overveld, P.G, Lemmers, R.J.L.F., Sandkuijl, L.A., Enthoven, L., Winokur, S.T., Bakels, F., Padberg, G.W.A.M., Ommen, G.J.B. van, Frants, R.R., and Maarel, S.M. van der

Abstract

Item does not contain fulltext, The autosomal dominant myopathy facioscapulohumeral muscular dystrophy (FSHD1, OMIM 158900) is caused by contraction of the D4Z4 repeat array on 4qter. We show that this contraction causes marked hypomethylation of the contracted D4Z4 allele in individuals with FSHD1. Individuals with phenotypic FSHD1, who are clinically identical to FSHD1 but have an unaltered D4Z4, also have hypomethylation of D4Z4. These results strongly suggest that hypomethylation of D4Z4 is a key event in the cascade of epigenetic events causing FSHD1.

Published
2003

106. PLEXIN-D1, a novel plexin family member, is expressed in vascular endothelium and the central nervous system during mouse embryogenesis.

Author

Zwaag, A. van der, Hellemons, A.J., Leenders, W.P.J., Burbach, J.P.H., Brunner, H.G., Padberg, G.W.A.M., Bokhoven, J.H.L.M. van, Zwaag, A. van der, Hellemons, A.J., Leenders, W.P.J., Burbach, J.P.H., Brunner, H.G., Padberg, G.W.A.M., and Bokhoven, J.H.L.M. van

Abstract

Item does not contain fulltext, The genetic defect in Mobius syndrome 2 (MBS2, MIM 601471), a dominantly inherited disorder characterised by paralysis of the facial nerve, is situated at chromosome 3q21-q22. We characterised the cDNA and predicted protein, and examined the expression pattern during mouse embryogenesis of a positional candidate gene, PLEXIN-D1 (PLXND1). The cDNA for PLXND1 is 7095 base pairs in length, coding for a predicted protein of 1925 amino acids. The protein features all known domains of plexin family members, with the exception of the third Met-related sequence. Northern analysis revealed a very low expression of PLXND1 in adult mouse and adult human tissues. To investigate the expression of PlxnD1 during embryogenesis, RNA in situ hybridisation was performed on mouse embryos from various stages. This investigation revealed expression of PlxnD1 in cells from the central nervous system (CNS) and in vascular endothelium. Early expression in the CNS is located in the ganglia, cortical plate of the cortex, and striatum. At later embryologic stages, neural expression was also seen in the external granular layer of the cerebellum and several nerve nuclei. The expression in the vascular system resides solely in the endothelial cells of developing blood vessels. Based on our results, we suggest that this expression of a member of the plexin family in vascular endothelium could point toward a role in embryonic vasculogenesis.

Published
2002

107. Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere.

Author

Lemmers, R.J.L.F., Kievit, P. de, Sandkuijl, L.A., Padberg, G.W.A.M., Ommen, G.J.B. van, Frants, R.R., Maarel, S.M. van der, Lemmers, R.J.L.F., Kievit, P. de, Sandkuijl, L.A., Padberg, G.W.A.M., Ommen, G.J.B. van, Frants, R.R., and Maarel, S.M. van der

Abstract

Item does not contain fulltext, Contractions in the polymorphic D4Z4 repeat array of subtelomere 4qter cause autosomal dominant facioscapulohumeral muscular dystrophy in humans. A polymorphic segment of 10 kb directly distal to D4Z4 exists in two allelic forms, 4qA and 4qB. Although both alleles are equally common in the general population, we now report that FSHD is associated solely with the 4qA allele.

Published
2002

108. Hereditary neuropathy with liability to pressure palsies with a small deletion interrupting the PMP22 gene.

Author

Wetering, R.A.C. van de, Gabreëls-Festen, A.A.W.M., Timmerman, V., Padberg, G.W.A.M., Gabreëls, F.J.M., Mariman, E.C.M., Wetering, R.A.C. van de, Gabreëls-Festen, A.A.W.M., Timmerman, V., Padberg, G.W.A.M., Gabreëls, F.J.M., and Mariman, E.C.M.

Abstract

Item does not contain fulltext, Hereditary neuropathy with liability to pressure palsies is associated with a deficiency in the Peripheral Myelin Protein 22 (PMP22). Most hereditary neuropathy with liability to pressure palsies cases are caused by a deletion of a 1.5 Mb region on chromosome 17p11.2-12 encompassing the PMP22 gene. We describe a hereditary neuropathy with liability to pressure palsies family that lacks the common deletion, but carries a small deletion spanning the 3' region of the PMP22 gene, causing only a partial deletion of one copy of the gene.

Published
2002

112. A Molecular Genetic Study on Cowden Disease.

Author

Padberg, G.W.A.M., Kremer, J.M.J., Nelen, M.R., Padberg, G.W.A.M., Kremer, J.M.J., and Nelen, M.R.

Abstract

Katholieke Universiteit Nijmegen, 12 december 2000, Promotor : Padberg, G.W.A.M. Co-promotor : Kremer, J.M.J., Item does not contain fulltext

Published
2000

113. De novo facioscapulohumeral muscular dystrophy: frequent somatic mosaicism, sex-depent phenotyp, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10.

Author

Maarel, S.M. van der, Deidda, G., Lemmers, R.J.L.F., Overveld, P.G, Wielen, M., Hewitt, J.E., Sandkuijl, L.A., Bakker, B., Ommen, G.J.B. van, Padberg, G.W.A.M., Frants, R.R., Maarel, S.M. van der, Deidda, G., Lemmers, R.J.L.F., Overveld, P.G, Wielen, M., Hewitt, J.E., Sandkuijl, L.A., Bakker, B., Ommen, G.J.B. van, Padberg, G.W.A.M., and Frants, R.R.

Abstract

Item does not contain fulltext

Published
2000

114. Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations.

Author

Nelen, M.R., Kremer, J.M.J., Konings, I.B.M., Schoute, F., Essen, A.J. van, Koch, R., Woods, C.G., Fryns, J.P., Hamel, B.C.J., Hoefsloot, L.H., Peeters, E.A.J., Padberg, G.W.A.M., Nelen, M.R., Kremer, J.M.J., Konings, I.B.M., Schoute, F., Essen, A.J. van, Koch, R., Woods, C.G., Fryns, J.P., Hamel, B.C.J., Hoefsloot, L.H., Peeters, E.A.J., and Padberg, G.W.A.M.

Abstract

Item does not contain fulltext

Published
1999

116. Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element.

Author

Gabriels, J., Beckers, M.C., Ding, H., Vriese, A.S. de, Plaisance, S., Maarel, S.M. van der, Padberg, G.W.A.M., Frants, R.R., Hewitt, J.E., Collen, D., Belayew, A., Gabriels, J., Beckers, M.C., Ding, H., Vriese, A.S. de, Plaisance, S., Maarel, S.M. van der, Padberg, G.W.A.M., Frants, R.R., Hewitt, J.E., Collen, D., and Belayew, A.

Abstract

Item does not contain fulltext

Published
1999

118. Morphological, functional, and therapeutic aspects of brain tumor vasculature: an experimental study

Author

Kogel, A.J. van der, Heerschap, A., Ruiter, D.J., Leer, J.W.H., Padberg, G.W.A.M., Bernsen, H.J.J.A., Kogel, A.J. van der, Heerschap, A., Ruiter, D.J., Leer, J.W.H., Padberg, G.W.A.M., and Bernsen, H.J.J.A.

Abstract

KUN, 1 december 1999, Promotores : Kogel, A.J. van der, Heerschap, A. Co-promotores : Ruiter, D.J., Leer, J.W.H., Padberg, G.W.A.M., Item does not contain fulltext

Published
1999

119. A new dosage test for subtelomeric 4;10 translocations improves conventional diagnosis of facioscapulohumeral muscular dystrophy (FSHD).

Author

Maarel, S.M. van der, Deidda, G., Lemmers, R.J.L.F., Bakker, E., Wielen, M.J.R. van der, Sandkuijl, L.A., Hewitt, J.E., Padberg, G.W.A.M., Frants, R.R., Maarel, S.M. van der, Deidda, G., Lemmers, R.J.L.F., Bakker, E., Wielen, M.J.R. van der, Sandkuijl, L.A., Hewitt, J.E., Padberg, G.W.A.M., and Frants, R.R.

Abstract

Item does not contain fulltext

Published
1999

123. Genetic characteristics of myoadenylate deaminase deficiency

Author

Verzijl, H.T.F.M., Engelen, B.G.M. van, Luyten, J.A.F.M., Heuvel, L.P.W.J. van den, Laak, H.J. ter, Padberg, G.W.A.M., Wevers, R.A., Verzijl, H.T.F.M., Engelen, B.G.M. van, Luyten, J.A.F.M., Heuvel, L.P.W.J. van den, Laak, H.J. ter, Padberg, G.W.A.M., and Wevers, R.A.

Abstract

Item does not contain fulltext

Published
1998

124. Inter- and intrachromosomal sub-telomeric rearrangements on 4q35: implications for facioscapulohumeral muscular dystrophy (FSHD) aetiology and diagnosis

Author

Lemmers, R.J.L.F., Maarel, S.M. van der, Deutekom, J.C.T. van, Wielen, M.J.R. van der, Deidda, G., Dauwerse, H.G., Hewitt, J.E., Hofker, M.H., Bakker, E., Padberg, G.W.A.M., Frants, R.R., Lemmers, R.J.L.F., Maarel, S.M. van der, Deutekom, J.C.T. van, Wielen, M.J.R. van der, Deidda, G., Dauwerse, H.G., Hewitt, J.E., Hofker, M.H., Bakker, E., Padberg, G.W.A.M., and Frants, R.R.

Abstract

Item does not contain fulltext

Published
1998

126. Familial spastic paraplegia: evidence for a fourth locus

Author

Bruyn, R.P.M., Veen, M. van, Kremer, J.M.J., Scheltens, P., Padberg, G.W.A.M., Bruyn, R.P.M., Veen, M. van, Kremer, J.M.J., Scheltens, P., and Padberg, G.W.A.M.

Abstract

Item does not contain fulltext

Published
1997

128. Startle responses in hereditary hyperekplexia

Author

Tijssen, M.A.J., Voorkamp, L.M., Padberg, G.W.A.M., Dijk, J.G.M., Tijssen, M.A.J., Voorkamp, L.M., Padberg, G.W.A.M., and Dijk, J.G.M.

Abstract

Contains fulltext : 24921.PDF (publisher's version ) (Open Access)

Published
1997

129. Vocational perspectives and neuromuscular disorders

Author

Andries, F., Wevers, C.W.J., Wintzen, A.R., Busch, H.F.M., Höweler, C.J., Jager, A.E.J. de, Padberg, G.W.A.M., Visser, M. de, Wokke, J.H.J., Andries, F., Wevers, C.W.J., Wintzen, A.R., Busch, H.F.M., Höweler, C.J., Jager, A.E.J. de, Padberg, G.W.A.M., Visser, M. de, and Wokke, J.H.J.

Abstract

Contains fulltext : 25213.PDF (publisher's version ) (Open Access)

Published
1997

130. Loss of heterozygosity in human breast carcinomas in the ataxia telangiectasia, Cowden disease and BRCA1 gene regions

Author

Kerangueven, F., Eisinger, F., Noguchi, T., Allione, F., Wargniez, V., Eng, C., Padberg, G.W.A.M., Theillet, C., Jacquemier, J., Longy, M., Sobol, H., Birnbaum, D., Kerangueven, F., Eisinger, F., Noguchi, T., Allione, F., Wargniez, V., Eng, C., Padberg, G.W.A.M., Theillet, C., Jacquemier, J., Longy, M., Sobol, H., and Birnbaum, D.

Abstract

Contains fulltext : 24330.pdf (publisher's version ) (Open Access)

Published
1997

134. The clinical spectrum of limb girdle muscular dystrophy. A survey in the Netherlands

Author

Kooi, A.J. van der, Barth, P.G., Busch, H.F.M., Haan, R.J. de, Ginjaar, H.B., Essen, A.J. van, Hooff, L.J.M.A. van, Howeler, C.J., Jennekens, F.G.I., Jongen, P.J.H., Oosterhuis, H.J.G.H., Padberg, G.W.A.M., Spaans, F., Wintzen, A.R., Wokke, J.H.J., Bakker, E., Ommen, G.J.B. van, Bolhuis, P.A., Visser, M. de, Kooi, A.J. van der, Barth, P.G., Busch, H.F.M., Haan, R.J. de, Ginjaar, H.B., Essen, A.J. van, Hooff, L.J.M.A. van, Howeler, C.J., Jennekens, F.G.I., Jongen, P.J.H., Oosterhuis, H.J.G.H., Padberg, G.W.A.M., Spaans, F., Wintzen, A.R., Wokke, J.H.J., Bakker, E., Ommen, G.J.B. van, Bolhuis, P.A., and Visser, M. de

Abstract

Item does not contain fulltext

Published
1996

135. Localization of the gene for Cowden disease to chromosome 10q22-23

Author

Nelen, M.R., Padberg, G.W.A.M., Peeters, E.A.J., Lin, A.Y., Helm, L.J.M. van den, Frants, R.R., Coulon, V., Goldstein, A.M., Reen, M.M.M. van, Easton, D.F., Eeles, R., Hodgson, S., Mulvihill, J.J., Murday, V.A., Tucker, M.A., Mariman, E.C.M., Starink, TH.M., Ponder, B.A.J., Ropers, H.H., Kremer, J.M.J., Longy, M., Eng, C., Nelen, M.R., Padberg, G.W.A.M., Peeters, E.A.J., Lin, A.Y., Helm, L.J.M. van den, Frants, R.R., Coulon, V., Goldstein, A.M., Reen, M.M.M. van, Easton, D.F., Eeles, R., Hodgson, S., Mulvihill, J.J., Murday, V.A., Tucker, M.A., Mariman, E.C.M., Starink, TH.M., Ponder, B.A.J., Ropers, H.H., Kremer, J.M.J., Longy, M., and Eng, C.

Abstract

Item does not contain fulltext

Published
1996

136. Localization of a gene for Möbius syndrome to chromosome 3q by linkage analysis in a Dutch family

Author

Kremer, H., Kuyt, L.P., Helm, B. van den, Reen, M. van, Leunissen, J.A.M., Hamel, B.C.J., Jansen, Cees, Mariman, E.C.M., Frants, R.R., Padberg, G.W.A.M., Kremer, H., Kuyt, L.P., Helm, B. van den, Reen, M. van, Leunissen, J.A.M., Hamel, B.C.J., Jansen, Cees, Mariman, E.C.M., Frants, R.R., and Padberg, G.W.A.M.

Abstract

Contains fulltext : 24254___.PDF (publisher's version ) (Open Access)

Published
1996

137. Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosomes 4q35 and 10q26: implications for genetic counselling and etiology of FSHD1

Author

Deutekom, J.C.T. van, Bakker, E., Lemmers, R.J.L.F., Wielen, M.J.R. van der, Bik, E., Hofker, M.H., Padberg, G.W.A.M., Frants, R.R., Deutekom, J.C.T. van, Bakker, E., Lemmers, R.J.L.F., Wielen, M.J.R. van der, Bik, E., Hofker, M.H., Padberg, G.W.A.M., and Frants, R.R.

Abstract

Item does not contain fulltext

Published
1996

139. Localization of a gene for non-syndromic hearing loss (DFNA5) to chromosome 7p15

Author

Camp, G. van, Coucke, P.J., Balemans, M.A.H., Velzen, D. van, Bilt, C. van de, Laer, L. van, Smith, R.J.H., Fukishima, K., Padberg, G.W.A.M., Frants, R.R., Heyning, P. van de, Smith, S.D., Huizing, E.H., Willems, P.H.G.M., Camp, G. van, Coucke, P.J., Balemans, M.A.H., Velzen, D. van, Bilt, C. van de, Laer, L. van, Smith, R.J.H., Fukishima, K., Padberg, G.W.A.M., Frants, R.R., Heyning, P. van de, Smith, S.D., Huizing, E.H., and Willems, P.H.G.M.

Abstract

Item does not contain fulltext

Published
1995

140. Early onset facioscapulohumeral muscular dystrophy

Author

Brouwer, O.F., Padberg, G.W.A.M., Bakker, E., Wijmenga, C., Frants, R.R., Brouwer, O.F., Padberg, G.W.A.M., Bakker, E., Wijmenga, C., and Frants, R.R.

Abstract

Contains fulltext : 21863___.PDF (publisher's version ) (Open Access)

Published
1995

143. Search for the FSHD gene using cDNA selection in a region spanning 100 kb on chromosome 4q35

Author

Deutekom, J.C.T. van, Hofker, M.H., Romberg, S., Geel, M. van, Rommens, J., Wright, T.J., Hewitt, J.E., Padberg, G.W.A.M., Wijmenga, C., Frants, R.R., Deutekom, J.C.T. van, Hofker, M.H., Romberg, S., Geel, M. van, Rommens, J., Wright, T.J., Hewitt, J.E., Padberg, G.W.A.M., Wijmenga, C., and Frants, R.R.

Abstract

Contains fulltext : 21110___.PDF (publisher's version ) (Open Access)

Published
1995

144. Facioscapulohumeral muscular dystrophy in the Dutch population

Author

Padberg, G.W.A.M., Frants, R.R., Brouwer, O.F., Wijmenga, C., Bakker, E., Sandkuijl, L.A., Padberg, G.W.A.M., Frants, R.R., Brouwer, O.F., Wijmenga, C., Bakker, E., and Sandkuijl, L.A.

Abstract

Contains fulltext : 22026___.PDF (publisher's version ) (Open Access)

Published
1995

146. Molecular genetic reevaluation of the Dutch hyperekplexia family

Author

Tijssen, M.A.J., Shiang, R., Deutekom, J.C.T. van, Boerman, R.H., Wasmuth, J.J., Sandkuijl, L.A., Frants, R.R., Padberg, G.W.A.M., Tijssen, M.A.J., Shiang, R., Deutekom, J.C.T. van, Boerman, R.H., Wasmuth, J.J., Sandkuijl, L.A., Frants, R.R., and Padberg, G.W.A.M.

Abstract

Contains fulltext : 20657___.PDF (publisher's version ) (Open Access)

Published
1995

147. Een vak apart.

Author

Padberg, G.W.A.M. and Padberg, G.W.A.M.

Published
1994

150. Facioscapulohumeral disease

Author

Padberg, G.W.A.M., Bruyn, G.W., Wijngaarden, G.K. van, and Leiden University

Subjects
musculoskeletal diseases, FSHD, Neurology, Landouzy-Dejerine's disease, Muscular dystrophy
Abstract

The purpose of this study is to discuss several aspects of facioscapulohumeral disease, also called "autosomal dominant facioscapulohumeral muscular dystrophy" or "Landouzy-Dejerine type of muscular dystrophy" or "Landouzy-Dejerine' s disease" . We consider this disorder well defined and recognizable, justifying the term facioscapulohumeral disease, abbreviated FSHD.

Published
1982

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