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RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection.

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RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection. / Henneke, Marco; Diekmann, Simone; Ohlenbusch, Andreas; Kaiser, Jens; Engelbrecht, Volkher; Kohlschütter, Alfried; Krätzner, Ralph; Madruga-Garrido, Marcos; Mayer, Michèle; Opitz, Lennart; Rodriguez, Diana; Rüschendorf, Franz; Schumacher, Johannes; Thiele, Holger; Thoms, Sven; Steinfeld, Robert; Nürnberg, Peter; Gärtner, Jutta.

in: NAT GENET, Jahrgang 41, Nr. 7, 7, 2009, S. 773-775.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Henneke, M, Diekmann, S, Ohlenbusch, A, Kaiser, J, Engelbrecht, V, Kohlschütter, A, Krätzner, R, Madruga-Garrido, M, Mayer, M, Opitz, L, Rodriguez, D, Rüschendorf, F, Schumacher, J, Thiele, H, Thoms, S, Steinfeld, R, Nürnberg, P & Gärtner, J 2009, 'RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection.', NAT GENET, Jg. 41, Nr. 7, 7, S. 773-775. <http://www.ncbi.nlm.nih.gov/pubmed/19525954?dopt=Citation>

APA

Henneke, M., Diekmann, S., Ohlenbusch, A., Kaiser, J., Engelbrecht, V., Kohlschütter, A., Krätzner, R., Madruga-Garrido, M., Mayer, M., Opitz, L., Rodriguez, D., Rüschendorf, F., Schumacher, J., Thiele, H., Thoms, S., Steinfeld, R., Nürnberg, P., & Gärtner, J. (2009). RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection. NAT GENET, 41(7), 773-775. [7]. http://www.ncbi.nlm.nih.gov/pubmed/19525954?dopt=Citation

Vancouver

Henneke M, Diekmann S, Ohlenbusch A, Kaiser J, Engelbrecht V, Kohlschütter A et al. RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection. NAT GENET. 2009;41(7):773-775. 7.

Bibtex

@article{826015e34ffd4089b1b21abdae8e6eb5,
title = "RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection.",
abstract = "Congenital cytomegalovirus brain infection without symptoms at birth can cause a static encephalopathy with characteristic patterns of brain abnormalities. Here we show that loss-of-function mutations in the gene encoding the RNASET2 glycoprotein lead to cystic leukoencephalopathy, an autosomal recessive disorder with an indistinguishable clinical and neuroradiological phenotype. Congenital cytomegalovirus infection and RNASET2 deficiency may both interfere with brain development and myelination through angiogenesis or RNA metabolism.",
author = "Marco Henneke and Simone Diekmann and Andreas Ohlenbusch and Jens Kaiser and Volkher Engelbrecht and Alfried Kohlsch{\"u}tter and Ralph Kr{\"a}tzner and Marcos Madruga-Garrido and Mich{\`e}le Mayer and Lennart Opitz and Diana Rodriguez and Franz R{\"u}schendorf and Johannes Schumacher and Holger Thiele and Sven Thoms and Robert Steinfeld and Peter N{\"u}rnberg and Jutta G{\"a}rtner",
year = "2009",
language = "Deutsch",
volume = "41",
pages = "773--775",
journal = "NAT GENET",
issn = "1061-4036",
publisher = "NATURE PUBLISHING GROUP",
number = "7",

}

RIS

TY - JOUR

T1 - RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection.

AU - Henneke, Marco

AU - Diekmann, Simone

AU - Ohlenbusch, Andreas

AU - Kaiser, Jens

AU - Engelbrecht, Volkher

AU - Kohlschütter, Alfried

AU - Krätzner, Ralph

AU - Madruga-Garrido, Marcos

AU - Mayer, Michèle

AU - Opitz, Lennart

AU - Rodriguez, Diana

AU - Rüschendorf, Franz

AU - Schumacher, Johannes

AU - Thiele, Holger

AU - Thoms, Sven

AU - Steinfeld, Robert

AU - Nürnberg, Peter

AU - Gärtner, Jutta

PY - 2009

Y1 - 2009

N2 - Congenital cytomegalovirus brain infection without symptoms at birth can cause a static encephalopathy with characteristic patterns of brain abnormalities. Here we show that loss-of-function mutations in the gene encoding the RNASET2 glycoprotein lead to cystic leukoencephalopathy, an autosomal recessive disorder with an indistinguishable clinical and neuroradiological phenotype. Congenital cytomegalovirus infection and RNASET2 deficiency may both interfere with brain development and myelination through angiogenesis or RNA metabolism.

AB - Congenital cytomegalovirus brain infection without symptoms at birth can cause a static encephalopathy with characteristic patterns of brain abnormalities. Here we show that loss-of-function mutations in the gene encoding the RNASET2 glycoprotein lead to cystic leukoencephalopathy, an autosomal recessive disorder with an indistinguishable clinical and neuroradiological phenotype. Congenital cytomegalovirus infection and RNASET2 deficiency may both interfere with brain development and myelination through angiogenesis or RNA metabolism.

M3 - SCORING: Zeitschriftenaufsatz

VL - 41

SP - 773

EP - 775

JO - NAT GENET

JF - NAT GENET

SN - 1061-4036

IS - 7

M1 - 7

ER -