C. Kretz

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C. Kretz, Christine Kretz
Publication record
57 papers · 5,968 citations · H-index 28

PAPERS

Lack of myotubularin phosphatase activity is the main cause of X-linked myotubular myopathy
20250 citationsauthor #2
Inactivating the lipid kinase activity of PI3KC2β is sufficient to rescue myotubular myopathy in mice
202311 citationsauthor #5
BIN1 modulation in vivo rescues dynamin-related myopathy
202221 citationsauthor #2
CONGENITAL MYOPATHIES – CENTRONUCLEAR MYOPATHIES
20210 citationsauthor #9
Mice with muscle-specific deletion of Bin1 recapitulate centronuclear myopathy and acute downregulation of dynamin 2 improves their phenotypes.
202130 citationsauthor #10
Multi-omics comparisons of different forms of centronuclear myopathies and the effects of several therapeutic strategies.
202116 citationsauthor #9
Myostatin: a Circulating Biomarker Correlating with Disease in Myotubular Myopathy Mice and Patients
202018 citationsauthor #6
Physiological impact and disease reversion for the severe form of centronuclear myopathy linked to dynamin
202024 citationsauthor #2
Amphiphysin 2 modulation rescues myotubular myopathy and prevents focal adhesion defects in mice
201941 citationsauthor #4
Reducing dynamin 2 (DNM2) rescues DNM2-related dominant centronuclear myopathy
201851 citationsauthor #5
Single Intramuscular Injection of AAV-shRNA Reduces DNM2 and Prevents Myotubular Myopathy in Mice.
201842 citationsauthor #3
CONGENITAL MYOPATHIES (CNM)
20180 citationsauthor #5
Differential physiological roles for BIN1 isoforms in skeletal muscle development, function and regeneration
201827 citationsauthor #4
CONGENITAL MYOPATHIES (CNM)
20180 citationsauthor #4
P.262 - Antisense oligonucleotide-mediated Dnm2 knockdown delays myotubular myopathy in mice after a single injection
20170 citationsauthor #2
Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy
201723 citationsauthor #4
Amphiphysin (BIN1) negatively regulates dynamin 2 for normal muscle maturation
201772 citationsauthor #8
Antisense oligonucleotide-mediated Dnm2 knockdown prevents and reverts myotubular myopathy in mice
201785 citationsauthor #4
ASO-mediated Dnm2 knockdown prevents and reverts myotubular myopathy in mice
20161 citationsauthor #4
Reducing dynamin 2 rescues a severe congenital myopathy in mice
20150 citationsauthor #4
Reducing dynamin 2 expression rescues X-linked centronuclear myopathy.
2014123 citationsauthor #4
An Integrated Diagnosis Strategy for Congenital Myopathies
201354 citationsauthor #14
Lack of myotubularin (MTM1) leads to muscle hypotrophy through unbalanced regulation of the autophagy and ubiquitin‐proteasome pathways
201363 citationsauthor #4
C.P.7 Dynamin 2 in skeletal muscle development and diseases
20120 citationsauthor #10
Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome
201259 citationsauthor #2
Primary T-tubule and autophagy defects in the phosphoinositide phosphatase Jumpy/MTMR14 knockout mice muscle.
201226 citationsauthor #2
Mutation spectrum in the large GTPase dynamin 2, and genotype–phenotype correlation in autosomal dominant centronuclear myopathy
2012127 citationsauthor #11
Novel molecular diagnostic approaches for X-linked centronuclear (myotubular) myopathy reveal intronic mutations.
201030 citationsauthor #3
Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset.
201028 citationsauthor #2
G.P.12.02 T-tubule disorganisation and defective excitation–contraction coupling in muscle fibres lacking myotubularin lipid phosphatase
20090 citationsauthor #5
Dementia in a child with myotubular myopathy.
20092 citationsauthor #2
T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase
2009186 citationsauthor #6
G.P.12.01 Immunodetection of myotubularin in human tissues: A diagnostic tool for X-linked myotubular myopathy
20090 citationsauthor #3
AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis
2008121 citationsauthor #8
Homozygosity mapping of disease loci by whole-genome SNP analysis from sporadic consanguineous patients
20070 citationsauthor #1
Corrigendum: Cxorf6 is a causative gene for hypospadias
20070 citationsauthor #7
C.P.4.07 Autosomal centronuclear myopathies: A clinicopathologic study of 16 cases
20070 citationsauthor #3
Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy
2007380 citationsauthor #4
Erratum: Cxorf6 is a causative gene for hypospadias (Nature Genetics (2006) 38, (1369-1371))
20071 citationsauthor #7
C.P.1.10 Molecular mechanisms underlying X-linked myotubular myopathy
20070 citationsauthor #2
C.P.4.10 Mutation spectrum of the large GTPase dynamin 2 in autosomal centronuclear myopathy
20070 citationsauthor #4
C.O.1 Identification of a new gene mutated in autosomal recessive centronuclear myopathy, and functional links with the dominant form
20070 citationsauthor #4
A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy.
2006136 citationsauthor #6
CXorf6 is a causative gene for hypospadias
2006145 citationsauthor #8
Deletion of both MTM1 and MTMR1 genes in a boy with myotubular myopathy
20058 citationsauthor #4
Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human.
1998113 citationsauthor #5
X-linked myotubular myopathy: refinement of the gene to a 280-kb region with new and highly informative microsatellite markers
199627 citationsauthor #5
A gene mutated in X–linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast
1996608 citationsauthor #3
Genomic organization of the adrenoleukodystrophy gene.
199481 citationsauthor #4
The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein.
1994266 citationsauthor #5
Origin of the expansion mutation in myotonic dystrophy
1993216 citationsauthor #2
Linkage disequilibrium between the fragile X mutation and two closely linked CA repeats suggests that fragile X chromosomes are derived from a small number of founder chromosomes.
1993144 citationsauthor #6
Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutation.
1992171 citationsauthor #3
Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis
1991213 citationsauthor #4
Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome
19911,536 citationsauthor #4
Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation.
1991644 citationsauthor #5
determinant of the transition to full mutation . the fragile X premutation is a major Inheritance of the fragile X syndrome : size of
year unknown0 citationsauthor #4

TIMELINE

1991 2,393 citations

1992 171 citations

1993 360 citations

1994 347 citations

1996 635 citations

1998 113 citations

2005 8 citations

2006 281 citations

2007 381 citations

2008 121 citations

2009 188 citations

2010 58 citations

2012 212 citations

2013 117 citations

2014 123 citations

2015 0 citations

2016 1 citations

2017 180 citations

2018 120 citations

2019 41 citations

2020 42 citations

2021 46 citations

2022 21 citations

2023 11 citations

2025 0 citations

Unknown 0 citations

C. Kretz

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