Výsledky vyhledávání - "Muscular dystrophy-dystroglycanopathy syndrome"

Akademický článek

B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype–phenotype associations in the muscular dystrophy-dystroglycanopathies

Autor: Reza Maroofian, Moniek Riemersma, Lucas T. Jae, Narges Zhianabed, Marjolein H. Willemsen, Willemijn M. Wissink-Lindhout, Michèl A. Willemsen, Arjan P. M. de Brouwer, Mohammad Yahya Vahidi Mehrjardi, Mahmoud Reza Ashrafi, Benno Kusters, Tjitske Kleefstra, Yalda Jamshidi, Mojila Nasseri, Rolph Pfundt, Thijn R. Brummelkamp, Mohammad Reza Abbaszadegan, Dirk J. Lefeber, Hans van Bokhoven

Publikováno v: Genome Medicine, Vol 9, Iss 1, Pp 1-11 (2017)

Abstract Background The phenotypic severity of congenital muscular dystrophy-dystroglycanopathy (MDDG) syndromes associated with aberrant glycosylation of α-dystroglycan ranges from the severe Walker-Warburg syndrome or muscle-eye-brain disease to m

Externí odkaz: https://doaj.org/article/9adc7417292e4798a0ee0866d8eaaebd

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B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies

Autor: Tjitske Kleefstra, Michèl A.A.P. Willemsen, Dirk Lefeber, Willemijn M. Wissink-Lindhout, Yalda Jamshidi, Mohammad Reza Abbaszadegan, Lucas T. Jae, Marjolein H. Willemsen, Narges Zhianabed, Moniek Riemersma, Arjan P.M. de Brouwer, Mojila Nasseri, Rolph Pfundt, Benno Küsters, Hans van Bokhoven, Thijn Reinout Brummelkamp, Mahmoud Reza Ashrafi, Reza Maroofian, Mohammad Yahya Vahidi Mehrjardi

Publikováno v: Genome Medicine, 9:118. BioMed Central Ltd
Genome Medicine
Genome Medicine, Vol 9, Iss 1, Pp 1-11 (2017)
Genome Medicine, 9, 1, pp. 118
Genome Medicine, 9, 118

Background: The phenotypic severity of congenital muscular dystrophy-dystroglycanopathy (MDDG) syndromes associated with aberrant glycosylation of α-dystroglycan ranges from the severe Walker-Warburg syndrome or muscle-eye-brain disease to mild, lat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c5ff1012b8d77488ba092420cabc2d7
https://cris.maastrichtuniversity.nl/en/publications/b2bd44ef-3164-443b-ab57-93a5a826c23d

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Akademický článek

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