Search Results - "Wolterman, Ruud A"

Germline Mutation of INI1/SMARCB1 in Familial Schwannomatosis by Hulsebos, Theo J.M., Plomp, Astrid S., Wolterman, Ruud A., Robanus-Maandag, Els C., Baas, Frank, Wesseling, Pieter

“…Patients with schwannomatosis develop multiple schwannomas but no vestibular schwannomas diagnostic of neurofibromatosis type 2. We report an inactivating…”
Get full text

Systemic inhibition of the membrane attack complex impedes neuroinflammation in chronic relapsing experimental autoimmune encephalomyelitis by Michailidou, Iliana, Jongejan, Aldo, Vreijling, Jeroen P, Georgakopoulou, Theodosia, de Wissel, Marit B, Wolterman, Ruud A, Ruizendaal, Patrick, Klar-Mohamad, Ngaisah, Grootemaat, Anita E, Picavet, Daisy I, Kumar, Vinod, van Kooten, Cees, Woodruff, Trent M, Morgan, B Paul, van der Wel, Nicole N, Ramaglia, Valeria, Fluiter, Kees, Baas, Frank

“…The complement system is a key driver of neuroinflammation. Activation of complement by all pathways, results in the formation of the anaphylatoxin C5a and the…”
Get full text

Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A by Valentijn, Linda J, Baas, Frank, Wolterman, Ruud A, Hoogendijk, Jessica E, van den Bosch, Norbert H.A, Zorn, Ina, Gabreëls-Festen, Anneke A.W.M, de Visser, Marianne, Bolhuis, Pieter A

“…We have investigated the peripheral myelin protein gene, PMP-22, in a family with Charcot-Marie-Tooth disease type 1A (CMT1A). The DNA duplication commonly…”
Get full text

Myelination competent conditionally immortalized mouse Schwann cells by Saavedra, José T., Wolterman, Ruud A., Baas, Frank, ten Asbroek, Anneloor L.M.A.

“…Numerous mouse myelin mutants are available to analyze the biology of the peripheral nervous system related to health and disease in vivo. However, robust in…”
Get full text

Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures by Jöbsis, G. Joost, Keizers, H, Vreijling, Jeroen P, Visser, Marianne de, Speer, Marcy C, Wolterman, Ruud A, Baas, Frank, Bolhuis, Pieter A

“…Among the diverse family of collagens, the widely expressed microfibrillar type VI collagen is believed to play a role in bridging cells with the extracellular…”
Get full text

Differentiation and proliferation of respiration-deficient human myoblasts by Herzberg, N H, Zwart, R, Wolterman, R A, Ruiter, J P, Wanders, R J, Bolhuis, P A, van den Bogert, C

“…Replication and transcription of mitochondrial DNA were impaired in dividing human myoblasts exposed to ethidium bromide. MtDNA content decreased linearly per…”
Get more information

Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B by Kulkens, T, Bolhuis, P A, Wolterman, R A, Kemp, S, te Nijenhuis, S, Valentijn, L J, Hensels, G W, Jennekens, F G, de Visser, M, Hoogendijk, J E

“…Charcot-Marie-Tooth disease type 1B (CMT1B) is genetically linked to chromosome 1q21-23. The major peripheral myelin protein gene, P0, has been cloned and…”
Get full text

Identification of a two base pair deletion in five unrelated families with adrenoleukodystrophy: a possible hot spot for mutations by Kemp, S, Ligtenberg, M J, van Geel, B M, Barth, P G, Wolterman, R A, Schoute, F, Sarde, C O, Mandel, J L, van Oost, B A, Bolhuis, P A

“…The gene for X-linked adrenoleukodystrophy (ALD) was recently identified. Intragenic deletions of several kilobases were found in about 7% of patients. Point…”
Get more information

Deletion of the serine 34 codon from the major peripheral myelin protein P 0 gene in Charcot-Marie-Tooth disease type 1B by Valentijn, Linda J, Kulkens, Tanja, de Visser, Marianne, Baas, Frank, Kemp, Stephan, Hoogendijk, Jessica E, Bolhuis, Pieter A, Jennekens, Frans G.I, Wolterman, Ruud A, te Nijenhuis, Saskia, Hensels, Gerard W

Get full text

Demonstration of a Sandhoff disease-associated autosomal 50-kb deletion by field inversion gel electrophoresis by BIKKER, H, VAN DEN BERG, F. M, WOLTERMAN, R. A, DE VIJLDER, J. J. M, BOLHUIS, P. A

“…Field inversion gel electrophoresis (FIGE) of SfiI-digested chromosomal DNA was used to demonstrate a 50-kb deletion in one allele of the gene encoding the…”
Get full text

Metallothionein in Menkes' disease: induction in cultured muscle cells by Herzberg, N H, Wolterman, R A, van den Berg, G J, Barth, P G, Bolhuis, P A

“…Menkes' disease is an inherited disturbance of copper metabolism. Addition of copper to the medium of cultured fibroblasts and lymphoblasts from patients with…”
Get more information

Distribution and characterization of a sandhoff disease-associated 50-kb deletion in the gene encoding the human β-hexosaminidase β-chain by BIKKER, H, VAN DEN BERG, F. M, WOLTERMAN, R. A, KLEIJER, W. J, DE VIJLDER, J. J. M, BOLHUIS, P. A

“…A 50-kb deletion was demonstrated in the gene encoding for the beta-subunit of human hexosaminidase (HEXB), using field inversion gel electrophoresis (FIGE) of…”
Get full text

Collagen synthesis in cultured myoblasts and myotubes from patients with Duchenne muscular dystrophy by de Jong, L, Wolterman, R A, Hillarius, S, Bolhuis, P A

“…Collagen synthesis was studied in cultured myoblasts and myotubes from 4 patients with Duchenne muscular dystrophy (DMD) and 4 control persons. Incorporation…”
Get more information