C. Kretz

发表

An Integrated Diagnosis Strategy for Congenital Myopathies

E. Malfatti, N. Romero, V. Biancalana, 2013, PloS one.

Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome

J. Mandel, A. Hanauer, F. Rousseau, 1991, Science.

Antisense oligonucleotide-mediated Dnm2 knockdown prevents and reverts myotubular myopathy in mice

Shuling Guo, B. Monia, S. Booten, 2017, Nature Communications.

T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase

A. Buj-Bello, A. Beggs, J. Mandel, 2009, Proceedings of the National Academy of Sciences.

Primary T-tubule and autophagy defects in the phosphoinositide phosphatase Jumpy/MTMR14 knockout mice muscle.

L. Amoasii, N. Messaddeq, J. Böhm, 2012, Advances in biological regulation.

Lack of myotubularin (MTM1) leads to muscle hypotrophy through unbalanced regulation of the autophagy and ubiquitin‐proteasome pathways

J. Mandel, L. Amoasii, N. Messaddeq, 2013, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

X-linked myotubular myopathy: refinement of the gene to a 280-kb region with new and highly informative microsatellite markers

A. Poustka, J. Mandel, J. Laporte, 1996, Human Genetics.

Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome

M. Koch, S. Q. Mehdi, J. Mandel, 2012, European Journal of Human Genetics.

AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis

A. Buj-Bello, P. Denéfle, A. Beggs, 2008, Human molecular genetics.

Amphiphysin 2 modulation rescues myotubular myopathy and prevents focal adhesion defects in mice

Y. Hérault, N. Romero, N. Messaddeq, 2019, Science Translational Medicine.

Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation.

N. Tommerup, J. Mandel, V. Biancalana, 1991, The New England journal of medicine.

CXorf6 is a causative gene for hypospadias

G. Camerino, I. Nishino, T. Ogata, 2006, Nature Genetics.

Physiological impact and disease reversion for the severe form of centronuclear myopathy linked to dynamin

N. Romero, J. Laporte, C. Kretz, 2020, JCI insight.

Novel molecular diagnostic approaches for X-linked centronuclear (myotubular) myopathy reveal intronic mutations

C. Bönnemann, N. Romero, V. Biancalana, 2010, Neuromuscular Disorders.

BIN1 modulation in vivo rescues dynamin-related myopathy

N. Messaddeq, P. Koebel, J. Laporte, 2022, Proceedings of the National Academy of Sciences of the United States of America.

Reducing dynamin 2 expression rescues X-linked centronuclear myopathy.

N. Romero, A. Ferry, J. Laporte, 2014, The Journal of clinical investigation.

Myostatin: a Circulating Biomarker Correlating with Disease in Myotubular Myopathy Mice and Patients

Arturo E. Hernandez, L. Servais, A. D’Amico, 2020, Molecular therapy. Methods & clinical development.

Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset

E. Stålberg, C. Wallgren‐Pettersson, H. Kalimo, 2010, Neuromuscular Disorders.

Reducing dynamin 2 (DNM2) rescues DNM2-related dominant centronuclear myopathy

Shuling Guo, B. Monia, J. Matson, 2018, Proceedings of the National Academy of Sciences.

Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy

C. Wallgren‐Pettersson, J. Mandel, H. Kingston, 2007, Nature Genetics.

Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis

C. Petit, J. Mandel, C. Kretz, 1991, Nature.

A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy.

J. Mandel, E. Zanoteli, B. Payrastre, 2006, Human molecular genetics.

A gene mutated in X–linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast

S. Klauck, A. Poustka, J. Mandel, 1996, Nature Genetics.

Origin of the expansion mutation in myotonic dystrophy

J. Mandel, C. Kretz, Keith J. Johnson, 1993, Nature Genetics.

Multi-omics comparisons of different forms of centronuclear myopathies and the effects of several therapeutic strategies.

J. Thompson, O. Dorchies, J. Laporte, 2021, Molecular therapy : the journal of the American Society of Gene Therapy.

Deletion of both MTM1 and MTMR1 genes in a boy with myotubular myopathy

J. Mandel, E. Zanoteli, A. Oliveira, 2005, American journal of medical genetics. Part A.

Mutation spectrum in the large GTPase dynamin 2, and genotype–phenotype correlation in autosomal dominant centronuclear myopathy

Jocelyn Laporte, Luciano Merlini, Christophe Béroud, 2012, Human mutation.

Single Intramuscular Injection of AAV-shRNA Reduces DNM2 and Prevents Myotubular Myopathy in Mice.

N. Messaddeq, P. Koebel, J. Laporte, 2018, Molecular therapy : the journal of the American Society of Gene Therapy.

Differential physiological roles for BIN1 isoforms in skeletal muscle development, function and regeneration

F. Pilot-Storck, A. Ferry, J. Laporte, 2020, Disease Models & Mechanisms.

Differential physiological roles for BIN1 isoforms in skeletal muscle development, function and regeneration

F. Pilot-Storck, A. Ferry, J. Laporte, 2018, Disease Models & Mechanisms.

Amphiphysin (BIN1) negatively regulates dynamin 2 for normal muscle maturation

A. Roux, S. Friant, J. Laporte, 2017, The Journal of clinical investigation.

P.251 Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy

N. Romero, B. Payrastre, P. Kessler, 2017, Neuromuscular Disorders.

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.

J. Mandel, C. Kretz, J. Boué, 1993, American journal of human genetics.

Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutation.

J. Mandel, C. Kretz, D. Devys, 1992, Journal of medical genetics.

determinant of the transition to full mutation . the fragile X premutation is a major Inheritance of the fragile X syndrome : size of

J. Mandel, C. Kretz, D. Devys, 2022 .

Inactivating the lipid kinase activity of PI3KC2β is sufficient to rescue myotubular myopathy in mice

B. Vanhaesebroeck, B. Payrastre, J. Laporte, 2023, JCI insight.

Mice with muscle-specific deletion of Bin1 recapitulate centronuclear myopathy and acute downregulation of dynamin 2 improves their phenotypes.

N. Messaddeq, J. Laporte, C. Kretz, 2021, Molecular therapy : the journal of the American Society of Gene Therapy.

The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein.

J. Mosser, J. Mandel, A. Douar, 1994, Human molecular genetics.

Genomic organization of the adrenoleukodystrophy gene.

A. Poustka, J. Mosser, J. Mandel, 1994, Genomics.

Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset

E. Stålberg, C. Wallgren‐Pettersson, H. Kalimo, 2010, Neuromuscular Disorders.

Myostatin: a Circulating Biomarker Correlating with Disease in Myotubular Myopathy Mice and Patients

Arturo E. Hernandez, L. Servais, J. Laporte, 2020, Molecular therapy. Methods & clinical development.