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Akademický článek

Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy

Autor: Joshua S. Clayton, Elyshia L. McNamara, Hayley Goullee, Stefan Conijn, Keren Muthsam, Gabrielle C. Musk, David Coote, James Kijas, Alison C. Testa, Rhonda L. Taylor, Amanda J. O’Hara, David Groth, Coen Ottenheijm, Gianina Ravenscroft, Nigel G. Laing, Kristen J. Nowak

Publikováno v: Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-14 (2020)

Abstract Ovine congenital progressive muscular dystrophy (OCPMD) was first described in Merino sheep flocks in Queensland and Western Australia in the 1960s and 1970s. The most prominent feature of the disease is a distinctive gait with stiffness of

Externí odkaz: https://doaj.org/article/62c6f646f3804c82ae5565c706bb352a

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Akademický článek

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Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy

Autor: Coen A.C. Ottenheijm, Rhonda L. Taylor, Keren Muthsam, Gianina Ravenscroft, Gabrielle C. Musk, David J. Coote, Alison C. Testa, David Groth, Kristen J. Nowak, Elyshia McNamara, Amanda J. O'Hara, Nigel G. Laing, Joshua S. Clayton, James Kijas, Stefan Conijn, Hayley Goullee

Publikováno v: Acta neuropathologica communications, 8(1):142. BioMed Central
Clayton, J S, McNamara, E L, Goullee, H, Conijn, S, Muthsam, K, Musk, G C, Coote, D, Kijas, J, Testa, A C, Taylor, R L, O'Hara, A J, Groth, D, Ottenheijm, C A C, Ravenscroft, G, Laing, N G & Nowak, K J 2020, ' Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy ', Acta neuropathologica communications, vol. 8, no. 1, 142 . https://doi.org/10.1186/s40478-020-01017-1
Acta Neuropathologica Communications
Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-14 (2020)

Ovine congenital progressive muscular dystrophy (OCPMD) was first described in Merino sheep flocks in Queensland and Western Australia in the 1960s and 1970s. The most prominent feature of the disease is a distinctive gait with stiffness of the hind

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38bec9e6070ea9564e55b260c8368114
https://research.vumc.nl/en/publications/0b321e4e-2c3a-4696-8c29-65820a916d08

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Novel autosomal dominantTNNT1mutation causing nemaline myopathy

Autor: Clotilde Lagier-Tourenne, Michael W. Lawlor, Fernande Freyermuth, Thomas L. Winder, Chamindra G. Konersman, Shailendra B. Patel

Publikováno v: Molecular Genetics & Genomic Medicine

Background Nemaline myopathy (NEM) is one of the three major forms of congenital myopathy and is characterized by diffuse muscle weakness, hypotonia, respiratory insufficiency, and the presence of nemaline rod structures on muscle biopsy. Mutations i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e2b63e273657d0448cfc414adac09f8
https://doi.org/10.1002/mgg3.325

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Molecular stress response in the CNS of mice after systemic exposure to interferon-alpha, ionizing radiation and ketamine

Autor: Lowe, Xiu R., Marchetti, Francesco, Lu, Xiaochen, Wyrobek, Andrew J.

Publikováno v: Lowe, Xiu R.; Marchetti, Francesco; Lu, Xiaochen; & Wyrobek, Andrew J.(2009). Molecular stress response in the CNS of mice after systemic exposure to interferon-alpha, ionizing radiation and ketamine. NeuroToxicology, 30. Lawrence Berkeley National Laboratory: Lawrence Berkeley National Laboratory. Retrieved from: http://www.escholarship.org/uc/item/1g34190x

We previously showed that the expression of troponin T1 (Tnnt 1) was induced in the central nervous system (CNS) of adultmice 30 min after treatment with ketamine, a glutamate N-methyl-D-aspartic acid (NMDA) receptor antagonist. We hypothesized that

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::942f253606878caa76ac4bff02cc90e4
http://www.escholarship.org/uc/item/1g34190x

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Nemaline myopathy caused by TNNT1 mutations in a Dutch pedigree

Autor: van der Pol, W.L., Leijenaar, J.F., Spliet, W.G.M., Lavrijsen, S.W., Jansen, N.J.G., Braun, K.P.J., Mulder, M., Timmers-Raaijmaakers, B.C.M.S., Ratsma, K., Dooijes, D., van Haelst, MM, Universiteit Utrecht

Publikováno v: Molecular Genetics & Genomic Medicine
Molecular Genetics and Genomics, 2(2), 134. Springer Verlag
van der Pol, W L, Leijenaar, J F, Spliet, W G M, Lavrijsen, S W, Jansen, N J G, Braun, K P J, Mulder, M, Timmers-Raaijmakers, B, Ratsma, K, Dooijes, D & van Haelst, M M 2014, ' Nemaline myopathy caused byTNNT1 mutations in a Dutch pedigree ', Molecular Genetics and Genomic Medicine, vol. 2, no. 2, pp. 134-7 . https://doi.org/10.1002/mgg3.52
Molecular Genetics and Genomic Medicine, 2(2), 134-7. John Wiley and Sons Inc.

Nemaline myopathy (NM) is genetically heterogeneous disorder characterized by early onset muscular weakness and sarcoplasmatic or intranuclear inclusions of rod-shaped Z-disk material in muscle fibers. Thus far, mutations in seven genes have been ide

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5788516582c8730ffc8fb545c53bae14
https://hdl.handle.net/1874/290507

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