Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease

U Hehr; G Uyanik; C Gross; MC Walter; A Bohring; M Cohen; B Oehl-Jaschkowitz; LM Bird; GM Shamdeen; U Bogdahn; G Schuierer; H Topaloglu; Ludwig Aigner; H Lochmuller; J Winkler

doi:10.1007/s10048-007-0096-y

Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease

U Hehr, G Uyanik, C Gross, MC Walter, A Bohring, M Cohen, B Oehl-Jaschkowitz, LM Bird, GM Shamdeen, U Bogdahn, G Schuierer, H Topaloglu, Ludwig Aigner (Co-author), H Lochmuller, J Winkler

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

46 Citations (Web of Science)

Original language	English
Pages (from-to)	279-288
Journal	NEUROGENETICS
Volume	8
Issue number	4
DOIs	https://doi.org/10.1007/s10048-007-0096-y
Publication status	Published - 2007

Keywords

CONGENITAL MUSCULAR-DYSTROPHY
WALKER-WARBURG-SYNDROME
ALPHA-DYSTROGLYCAN
MENTAL-RETARDATION
CLINICAL SPECTRUM
MEB DISEASE
POMT1
GENE
FUKUTIN
GLYCOSYLATION

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10.1007/s10048-007-0096-y

Cite this

Hehr, U., Uyanik, G., Gross, C., Walter, MC., Bohring, A., Cohen, M., Oehl-Jaschkowitz, B., Bird, LM., Shamdeen, GM., Bogdahn, U., Schuierer, G., Topaloglu, H., Aigner, L., Lochmuller, H., & Winkler, J. (2007). Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease. NEUROGENETICS , 8(4), 279-288. https://doi.org/10.1007/s10048-007-0096-y

Hehr, U ; Uyanik, G ; Gross, C et al. / Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease. In: NEUROGENETICS 2007 ; Vol. 8, No. 4. pp. 279-288.

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title = "Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease",

keywords = "CONGENITAL MUSCULAR-DYSTROPHY, WALKER-WARBURG-SYNDROME, ALPHA-DYSTROGLYCAN, MENTAL-RETARDATION, CLINICAL SPECTRUM, MEB DISEASE, POMT1, GENE, FUKUTIN, GLYCOSYLATION",

author = "U Hehr and G Uyanik and C Gross and MC Walter and A Bohring and M Cohen and B Oehl-Jaschkowitz and LM Bird and GM Shamdeen and U Bogdahn and G Schuierer and H Topaloglu and Ludwig Aigner and H Lochmuller and J Winkler",

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language = "English",

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Hehr, U, Uyanik, G, Gross, C, Walter, MC, Bohring, A, Cohen, M, Oehl-Jaschkowitz, B, Bird, LM, Shamdeen, GM, Bogdahn, U, Schuierer, G, Topaloglu, H, Aigner, L, Lochmuller, H & Winkler, J 2007, 'Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease', NEUROGENETICS , vol. 8, no. 4, pp. 279-288. https://doi.org/10.1007/s10048-007-0096-y

Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease. / Hehr, U; Uyanik, G; Gross, C et al.
In: NEUROGENETICS , Vol. 8, No. 4, 2007, p. 279-288.

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

TY - JOUR

T1 - Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease

AU - Hehr, U

AU - Uyanik, G

AU - Gross, C

AU - Walter, MC

AU - Bohring, A

AU - Cohen, M

AU - Oehl-Jaschkowitz, B

AU - Bird, LM

AU - Shamdeen, GM

AU - Bogdahn, U

AU - Schuierer, G

AU - Topaloglu, H

AU - Aigner, Ludwig

AU - Lochmuller, H

AU - Winkler, J

PY - 2007

Y1 - 2007

KW - CONGENITAL MUSCULAR-DYSTROPHY

KW - WALKER-WARBURG-SYNDROME

KW - ALPHA-DYSTROGLYCAN

KW - MENTAL-RETARDATION

KW - CLINICAL SPECTRUM

KW - MEB DISEASE

KW - POMT1

KW - GENE

KW - FUKUTIN

KW - GLYCOSYLATION

U2 - 10.1007/s10048-007-0096-y

DO - 10.1007/s10048-007-0096-y

M3 - Original Article

C2 - 17906881

SN - 1364-6745

VL - 8

SP - 279

EP - 288

JO - NEUROGENETICS

JF - NEUROGENETICS

IS - 4

ER -

Hehr U, Uyanik G, Gross C, Walter MC, Bohring A, Cohen M et al. Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease. NEUROGENETICS . 2007;8(4):279-288. doi: 10.1007/s10048-007-0096-y