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Assignment of the Charcot-Marie-Tooth neuropathy type 1 (CMT 1a) gene to 17p11.2-p12

Autor: V, Timmerman, P, Raeymaekers, P, De Jonghe, G, De Winter, L, Swerts, K, Jacobs, J, Gheuens, J J, Martin, A, Vandenberghe, C, Van Broeckhoven

Publikováno v: American journal of human genetics. 47(4)

Charcot-Marie-Tooth disease type 1a (CMT 1a) is an autosomal dominant peripheral neuropathy linked to the DNA markers D17S58 and D17S71, located in the pericentromeric region of the chromosome 17p arm. We analyzed an extended 5-generation Belgian fam

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ec37eb20a866c219c6ff937a41417327
https://pubmed.ncbi.nlm.nih.gov/2220808

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Adipose tissue cellularity in patients with amyotrophic lateral sclerosis

Autor: R. van den Bergh, L. Boni, A. Hendrikx, L. Swerts, E. Meulepas

Publikováno v: Clinical Neurology and Neurosurgery. 80:226-240

The subcutaneous mean fat-cell volumes as measured in 20 patients suffering from amyotrophic lateral sclerosis (ALS) were definitely larger than those measured in a control group. In contrast with the control subjects, the mean fat-cell volume in pat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::916d12deb498c50fd23e5335a58f8fe8
https://doi.org/10.1016/s0303-8467(78)80013-4

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Exclusion analysis of Charcot-Marie-Tooth neuropathy (CMT1) with chromosome 1p markers

Autor: C. Van Broeckhoven, P Raeymaekers, Antoon Vandenberghe, J. Gheuens, P. De Jonghe, G. De Winter, L. Swerts, J. J. Martin

Publikováno v: Cytogenetics and cell genetics

We previously described a large five-generation family with autosomal dominant inheritance of hereditary motor and sensory neuropathy type I, or Charcot-Marie-Tooth disease (CMT1). The genetic defect in this family was not linked to the Duffy blood g

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe4493a72381b574a3bb5abc4dbeea77
https://hdl.handle.net/10067/1434450151162165141

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[Familial amytrophic lateral sclerosis. A study of a family suffering from this disease for three generations]

Autor: L, Swerts, R, Van Den Bergh

Publikováno v: Journal de genetique humaine. 24(3)

The authors describe nine cases of amytrophic lateral sclerosis running through the same family for three successive generations. The transmission is autosomal dominant with complete penetrance. The clinical picture comprises specific characteristics

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::89659a3b2695aa78bb0510dc8027b5e3
https://pubmed.ncbi.nlm.nih.gov/1003176

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Absence of genetic linkage of Charcot-Marie-Tooth disease (HMSN Ia) with chromosome 1 gene markers

Autor: A. Wehnert, Antoon Vandenberghe, J. Gheuens, J. J. Martin, C. Van Broeckhoven, P. De Jonghe, H Backhovens, G. De Winter, L. Swerts, P Raeymaekers

Publikováno v: Neurology

We previously reported a large Charcot-Marie-Tooth family not linked to the Duffy blood group marker, supporting the existence of genetic heterogeneity in this neuropathy. In order to investigate the possibility of another disease locus on chromosome

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aee6fcf579b0af404067ba18671d609f
https://pubmed.ncbi.nlm.nih.gov/2725880

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Localization of the mutation in an extended family with Charcot-Marie-Tooth neuropathy (HMSN I)

Autor: P, Raeymaekers, V, Timmerman, P, De Jonghe, L, Swerts, J, Gheuens, J J, Martin, L, Muylle, G, De Winter, A, Vandenberghe, C, Van Broeckhoven

Publikováno v: American journal of human genetics. 45(6)

Hereditary motor and sensory neuropathy type I (HMSN I) or Charcot-Marie-Tooth (CMT) disease is an autosomal dominant peripheral neuropathy. In some CMT families linkage has been reported with either the Duffy blood group or the APOA2 gene, both loca

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7bd51d907377cc0b374cd96d57e683fd
https://pubmed.ncbi.nlm.nih.gov/2589322

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Adult ceroid-lipofuscinosis : diagnostic-value of biopsies and of neurophysiological investigations

Autor: K Jacobs, L Swerts, J.J. Martin, C Ceuterick, A Vercruyssen

Publikováno v: Journal of neurology, neurosurgery and psychiatry

In a sibship of ten, three brothers presented with an adult form of ceroid-lipofuscinosis. The diagnosis was confirmed by necropsy of the first patient and was made by electron microscopy of eccrine sweat glands and of skeletal muscles in the two oth

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a0c7af8d2aa7eaba996f88cc2b0218c
https://hdl.handle.net/10067/1057230151162165141

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