Skeletal, cardiac and tongue muscle pathology, defective retinal transmission, and neuronal migration defects in the Large(myd) mouse defines a natural model for glycosylation-deficient muscle - eye - brain disorders.

Paul J Holzfeind; Prabhjit K Grewal; Herbert Reitsamer; Jasmin Kechvar; Hans Lassmann; Harald Hoeger; Jane E Hewitt; Reginald E Bittner

doi:10.1093/hmg/11.21.2673

Skeletal, cardiac and tongue muscle pathology, defective retinal transmission, and neuronal migration defects in the Large(myd) mouse defines a natural model for glycosylation-deficient muscle - eye - brain disorders.

Paul J Holzfeind, Prabhjit K Grewal, Herbert Reitsamer (Co-author), Jasmin Kechvar, Hans Lassmann, Harald Hoeger, Jane E Hewitt, Reginald E Bittner

Research output: Contribution to journal › Original Article › peer-review

130 Citations (Web of Science)

Original language	English
Pages (from-to)	2673-2687
Journal	HUMAN MOLECULAR GENETICS
Volume	11
Issue number	21
DOIs	https://doi.org/10.1093/hmg/11.21.2673
Publication status	Published - 2002

Keywords

CONGENITAL MUSCULAR-DYSTROPHY
ALPHA-DYSTROGLYCAN
LAMININ
MICE
GENE
FAMILY
PROTEIN
GLYCOSYLTRANSFERASE
ELECTRORETINOGRAPHY
IDENTIFICATION

Access to Document

10.1093/hmg/11.21.2673

Cite this

Holzfeind, P. J., Grewal, P. K., Reitsamer, H., Kechvar, J., Lassmann, H., Hoeger, H., Hewitt, J. E., & Bittner, R. E. (2002). Skeletal, cardiac and tongue muscle pathology, defective retinal transmission, and neuronal migration defects in the Large(myd) mouse defines a natural model for glycosylation-deficient muscle - eye - brain disorders. HUMAN MOLECULAR GENETICS , 11(21), 2673-2687. https://doi.org/10.1093/hmg/11.21.2673

Holzfeind, Paul J ; Grewal, Prabhjit K ; Reitsamer, Herbert et al. / Skeletal, cardiac and tongue muscle pathology, defective retinal transmission, and neuronal migration defects in the Large(myd) mouse defines a natural model for glycosylation-deficient muscle - eye - brain disorders. In: HUMAN MOLECULAR GENETICS 2002 ; Vol. 11, No. 21. pp. 2673-2687.

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title = "Skeletal, cardiac and tongue muscle pathology, defective retinal transmission, and neuronal migration defects in the Large(myd) mouse defines a natural model for glycosylation-deficient muscle - eye - brain disorders.",

keywords = "CONGENITAL MUSCULAR-DYSTROPHY, ALPHA-DYSTROGLYCAN, LAMININ, MICE, GENE, FAMILY, PROTEIN, GLYCOSYLTRANSFERASE, ELECTRORETINOGRAPHY, IDENTIFICATION",

author = "Holzfeind, {Paul J} and Grewal, {Prabhjit K} and Herbert Reitsamer and Jasmin Kechvar and Hans Lassmann and Harald Hoeger and Hewitt, {Jane E} and Bittner, {Reginald E}",

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doi = "10.1093/hmg/11.21.2673",

language = "English",

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pages = "2673--2687",

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Holzfeind, PJ, Grewal, PK, Reitsamer, H, Kechvar, J, Lassmann, H, Hoeger, H, Hewitt, JE & Bittner, RE 2002, 'Skeletal, cardiac and tongue muscle pathology, defective retinal transmission, and neuronal migration defects in the Large(myd) mouse defines a natural model for glycosylation-deficient muscle - eye - brain disorders.', HUMAN MOLECULAR GENETICS , vol. 11, no. 21, pp. 2673-2687. https://doi.org/10.1093/hmg/11.21.2673

Skeletal, cardiac and tongue muscle pathology, defective retinal transmission, and neuronal migration defects in the Large(myd) mouse defines a natural model for glycosylation-deficient muscle - eye - brain disorders. / Holzfeind, Paul J; Grewal, Prabhjit K; Reitsamer, Herbert (Co-author) et al.
In: HUMAN MOLECULAR GENETICS , Vol. 11, No. 21, 2002, p. 2673-2687.

Research output: Contribution to journal › Original Article › peer-review

TY - JOUR

T1 - Skeletal, cardiac and tongue muscle pathology, defective retinal transmission, and neuronal migration defects in the Large(myd) mouse defines a natural model for glycosylation-deficient muscle - eye - brain disorders.

AU - Holzfeind, Paul J

AU - Grewal, Prabhjit K

AU - Reitsamer, Herbert

AU - Kechvar, Jasmin

AU - Lassmann, Hans

AU - Hoeger, Harald

AU - Hewitt, Jane E

AU - Bittner, Reginald E

PY - 2002

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KW - CONGENITAL MUSCULAR-DYSTROPHY

KW - ALPHA-DYSTROGLYCAN

KW - LAMININ

KW - MICE

KW - GENE

KW - FAMILY

KW - PROTEIN

KW - GLYCOSYLTRANSFERASE

KW - ELECTRORETINOGRAPHY

KW - IDENTIFICATION

U2 - 10.1093/hmg/11.21.2673

DO - 10.1093/hmg/11.21.2673

M3 - Original Article

C2 - 12354792

SN - 0964-6906

VL - 11

SP - 2673

EP - 2687

JO - HUMAN MOLECULAR GENETICS

JF - HUMAN MOLECULAR GENETICS

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Holzfeind PJ, Grewal PK, Reitsamer H, Kechvar J, Lassmann H, Hoeger H et al. Skeletal, cardiac and tongue muscle pathology, defective retinal transmission, and neuronal migration defects in the Large(myd) mouse defines a natural model for glycosylation-deficient muscle - eye - brain disorders. HUMAN MOLECULAR GENETICS . 2002;11(21):2673-2687. doi: 10.1093/hmg/11.21.2673