UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 46

Sortiert nach

Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy

Brain (London, England : 1878), 2014-09, Vol.137 (Pt 9), p.2429-2443

2014

Volltextzugriff (PDF)

Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome

Brain (London, England : 1878), 2016-08, Vol.139 (Pt 8), p.2143-2153

2016

Volltextzugriff (PDF)

Development and Application of an Ultrasensitive Hybridization-Based ELISA Method for the Determination of Peptide-Conjugated Phosphorodiamidate Morpholino Oligonucleotides

Nucleic acid therapeutics, 2015-10, Vol.25 (5), p.275

2015

Volltextzugriff (PDF)

A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy

Brain (London, England : 1878), 2011-01, Vol.134 (Pt 1), p.171-182

2011

Volltextzugriff (PDF)

Exon skipping and gene transfer restore dystrophin expression in human induced pluripotent stem cells-cardiomyocytes harboring DMD mutations

Stem cells and development, 2013-10, Vol.22 (20), p.2714

2013

Volltextzugriff (PDF)

Autologous skeletal muscle derived cells expressing a novel functional dystrophin provide a potential therapy for Duchenne Muscular Dystrophy

Scientific reports, 2016-01, Vol.6 (1), p.19750-19750, Article 19750

2016

Volltextzugriff (PDF)

Cardiomyocyte Regeneration in the mdx Mouse Model of Nonischemic Cardiomyopathy

Stem cells and development, 2015-07, Vol.24 (14), p.1672

2015

Volltextzugriff (PDF)

Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy

Human molecular genetics, 2009-06, Vol.18 (11), p.1976-1989

2009

Volltextzugriff (PDF)

Muscular dystrophy in dysferlin-deficient mouse models

Neuromuscular disorders : NMD, 2013-05, Vol.23 (5), p.377-387

2013

Volltextzugriff (PDF)

Caveolin Regulates Endocytosis of the Muscle Repair Protein, Dysferlin

The Journal of biological chemistry, 2008-03, Vol.283 (10), p.6476-6488

2008

Volltextzugriff (PDF)

Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect

American journal of human genetics, 2011-02, Vol.88 (2), p.162-172

2011

Volltextzugriff (PDF)

AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration

The FASEB journal, 2007-03, Vol.21 (3), p.732-742

2007

Volltextzugriff (PDF)

Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission

Journal of neuromuscular diseases, 2014, Vol.1 (1), p.75-90

2014

Volltextzugriff (PDF)

Absence of Cardiac Benefit with Early Combination ACE Inhibitor and Beta Blocker Treatment in mdx Mice

Journal of cardiovascular translational research, 2015-04, Vol.8 (3), p.198-207

2015

Volltextzugriff (PDF)

Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3

Human molecular genetics, 2006-01, Vol.15 (1), p.129-142

2006

Volltextzugriff (PDF)

Dok-7 promotes slow muscle integrity as well as neuromuscular junction formation in a zebrafish model of congenital myasthenic syndromes

Human molecular genetics, 2010-05, Vol.19 (9), p.1726-1740

2010

Volltextzugriff (PDF)

Assessment of ventricular function in mouse models of muscular dystrophy: A comparison of MRI with conductance catheter

Neuromuscular disorders : NMD, 2015-01, Vol.25 (1), p.24-31

2015

Volltextzugriff (PDF)

Efficient and fast functional screening of microdystrophin constructs in vivo and in vitro for therapy of duchenne muscular dystrophy

Human gene therapy, 2009-06, Vol.20 (6), p.641

2009

Volltextzugriff (PDF)

The differential gene expression profiles of proximal and distal muscle groups are altered in pre-pathological dysferlin-deficient mice

Neuromuscular disorders : NMD, 2005-12, Vol.15 (12), p.863-877

2005

Volltextzugriff (PDF)

A genome-wide search for schizophrenia susceptibility genes

American journal of medical genetics, 1998-09, Vol.81 (5), p.364-376

1998

Volltextzugriff (PDF)

Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy

Human molecular genetics, 2014-05, Vol.23 (9), p.2353-2363

2014

Volltextzugriff (PDF)

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14

Brain (London, England : 1878), 2013-03, Vol.136 (Pt 3), p.944-956

2013

Volltextzugriff (PDF)

Dystrophin quantification: Biological and translational research implications

Neurology, 2014-11, Vol.83 (22), p.2062

2014

Volltextzugriff (PDF)

Y Chromosome Short Arm-Sxr Recombination in XSxr/Y Males Causes Deletion of Rbm and XY Female Sex Reversal

Proceedings of the National Academy of Sciences - PNAS, 1995-10, Vol.92 (22), p.10403-10407

1995

Volltextzugriff (PDF)

Mouse Homologues of the Human AZF Candidate Gene RBM Are Expressed in Spermatogonia and Spermatids, and Map to a Y Chromosome Deletion Interval Associated with a High Incidence of Sperm Abnormalities

Human molecular genetics, 1998-04, Vol.7 (4), p.715-727

1998

Volltextzugriff (PDF)

1 – 25 von 46

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(43)
Mit Volltextzugriff
(40)

Publikationsform

Artikel
(46)

Sprache

Englisch
(46)
Japanisch
(16)

Erscheinungsjahr

n.n

Thema

Science & Technology
(40)
Life Sciences & Biomedicine
(37)
Humans
(26)
Animals
(23)
Biological And Medical Sciences
(18)
Male
(17)
Mice
(16)
Medical Sciences
(14)
Female
(13)
Genetics & Heredity
(13)
Biochemistry & Molecular Biology
(11)
Chromosome Mapping
(10)
Molecular Sequence Data
(10)
Neurology
(9)
Clinical Neurology
(8)
Fundamental And Applied Biological Sciences. Psychology
(8)
Mutation
(8)
Neurosciences & Neurology
(8)
Base Sequence
(7)
Disease Models, Animal
(7)

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

5 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(1)

Menü

Weitere Dienste

Einstellungen

Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy

Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome

Development and Application of an Ultrasensitive Hybridization-Based ELISA Method for the Determination of Peptide-Conjugated Phosphorodiamidate Morpholino Oligonucleotides

A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy

Exon skipping and gene transfer restore dystrophin expression in human induced pluripotent stem cells-cardiomyocytes harboring DMD mutations

Autologous skeletal muscle derived cells expressing a novel functional dystrophin provide a potential therapy for Duchenne Muscular Dystrophy

Cardiomyocyte Regeneration in the mdx Mouse Model of Nonischemic Cardiomyopathy

Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy

Muscular dystrophy in dysferlin-deficient mouse models

Caveolin Regulates Endocytosis of the Muscle Repair Protein, Dysferlin

Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect

AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration

Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission

Absence of Cardiac Benefit with Early Combination ACE Inhibitor and Beta Blocker Treatment in mdx Mice

Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3

Dok-7 promotes slow muscle integrity as well as neuromuscular junction formation in a zebrafish model of congenital myasthenic syndromes

Assessment of ventricular function in mouse models of muscular dystrophy: A comparison of MRI with conductance catheter

Efficient and fast functional screening of microdystrophin constructs in vivo and in vitro for therapy of duchenne muscular dystrophy

The differential gene expression profiles of proximal and distal muscle groups are altered in pre-pathological dysferlin-deficient mice

A genome-wide search for schizophrenia susceptibility genes

Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14

Dystrophin quantification: Biological and translational research implications

Y Chromosome Short Arm-Sxr Recombination in XSxr/Y Males Causes Deletion of Rbm and XY Female Sex Reversal

Mouse Homologues of the Human AZF Candidate Gene RBM Are Expressed in Spermatogonia and Spermatids, and Map to a Y Chromosome Deletion Interval Associated with a High Incidence of Sperm Abnormalities

Suchergebnisse filtern