Suchergebnisse - "Cox, Mary O"

PubPharm (12)

1

Limb-Girdle Muscular Dystrophy R9 due to a Novel Complex Insertion/Duplication Variant in FKRP Gene

enthalten in: Child neurology open | 2022

von Willis, E. | Moore, S. | Cox, M. | +4

2

A novel noncoding FKRP mutation in early onset limb-girdle muscular dystrophy

enthalten in: Neurology. Genetics | 2020

von Saylam, E. | Moore, S. | Aravindhan, A. | +6

3

Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G

enthalten in: Neurology. Genetics | 2019

von Lee, A. | Jones, K. | Butterfield, R. | +18

4

TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy

enthalten in: Skeletal muscle | 2018

von Larson, A. | Baker, P. | Milev, M. | +12

5

TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy

enthalten in: Skeletal muscle | 2018

von Larson, A. | Baker, P. | Milev, M. | +12

6

GMPPB-Associated Dystroglycanopathy : Emerging Common Variants with Phenotype Correlation

enthalten in: Human mutation | 2015

von Jensen, B. | Willer, T. | Saade, D. | +8

7

Early-progressive dilated cardiomyopathy in a family with Becker muscular dystrophy related to a novel frameshift mutation in the dystrophin gene exon 27

enthalten in: Journal of human genetics | 2015

von Tsuda, T. | Fitzgerald, K. | Scavena, M. | +5

8

GMPPB‐Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation

enthalten in: Human mutation | 2015

von Jensen, B. | Willer, T. | Saade, D. | +8

9

Early-progressive dilated cardiomyopathy in a family with Becker muscular dystrophy related to a novel frameshift mutation in the dystrophin gene exon 27

enthalten in: Journal of human genetics | 2015

von Tsuda, T. | Fitzgerald, K. | Scavena, M. | +5

10

Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies

enthalten in: Brain : a journal of neurology | 2013

von Davidson, A. | Siddiqui, F. | Lopez, M. | +23