Hypokinesia and presenile dementia in a Dutch family with a novel insertion in the prion protein gene

Autor: E. M. Hoogerwaard, J. H. A. Wiezer, Pieter A. Bolhuis, Pieter Wesseling, W.A. van Gool, G. W. Hensels

Publikováno v: ResearcherID
Brain, 118, pp. 1565-1571
Brain, 118, 1565-1571
Brain, 118, 6, pp. 1565-1571
Brain, 118 ( Pt 6), 1565-1571. Oxford University Press

The clinical features and disease course of six patients from a family with autosomal dominant inheritance of presenile dementia and a hypokinetic syndrome are described. In the past, these patients have carried diagnoses of Pick's disease, Huntingto

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d4bd4edb508824a6d473be5068455b1
https://hdl.handle.net/2066/271683

Allelic heterogeneity in hereditary motor and sensory neuropathy type Ia (Charcot-Marie-Tooth disease type 1a)

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

The gene for X-linked myotubular myopathy is located in an 8 Mb region at the border of Xq27.3 and Xq28

Autor: Stephan Kemp, Ben C.J. Hamel, B.A. van Oost, J. W. Weber, Pieter A. Bolhuis, Frank Baas, G. W. Hensels, Peter G. Barth, Emiel A. M. Janssen

Publikováno v: Neuromuscular disorders, 4(5-6), 455-461. Elsevier Limited

X-linked recessive myotubular myopathy (XLMTM) is a rare and severe neonatal neuromuscular disease characterized by muscle weakness, hypotonia, and respiratory problems. Here we report an extensive linkage analysis in two families with XLMTM. Using 1

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::430e84293408bd72632327df666064cd
https://pure.amc.nl/en/publications/the-gene-for-xlinked-myotubular-myopathy-is-located-in-an-8-mb-region-at-the-border-of-xq273-and-xq28(4590e275-fde8-4585-bfdb-1b7997667965).html

The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A

Autor: David E. Housman, Frank Baas, Vincent P. Stanton, Linda J. Valentijn, N H van den Bosch, G. W. Hensels, Garth A. Nicholson, E. J. Meershoek, I. Zorn, G.J.B. van Ommen, Kenneth H. Fischbeck, Hans G. Dauwerse, D. A. Ross, Pieter A. Bolhuis, Jessica E. Hoogendijk

Publikováno v: Nature genetics, 1(3), 166-170. Nature Publishing Group

Charcot-Marie-Tooth disease type 1A (CMT1A) is associated with a DNA duplication at chromosome 17p11.2. In view of the point mutation in the gene for peripheral myelin protein pmp-22/gas-3 in Trembler mice, a murine model for CMT1A, we have analysed

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e41fb641f65dbdc098ab75701d03965
https://pubmed.ncbi.nlm.nih.gov/1303229

Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28

Autor: P A, Bolhuis, G W, Hensels, T J, Hulsebos, F, Baas, P G, Barth

Publikováno v: American journal of human genetics. 48(3)

X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria is clinically characterized by congenital dilated cardiomyopathy, skeletal myopathy, recurrent bacterial infections, and growth retardation. We analyzed linkage between the d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::8c98d80de92f4265d971bd8e0ce99406
https://pubmed.ncbi.nlm.nih.gov/1998334