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Recurrence risk modelling of the genetic susceptibility to ankylosing spondylitis

Annals of the rheumatic diseases, 2000-11, Vol.59 (11), p.883-886

2000

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Oculopharyngodistal myopathy is a distinct entity: clinical and genetic features of 47 patients

Neurology, 2011-01, Vol.76 (3), p.227

2011

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Whole-Genome Screening in Ankylosing Spondylitis: Evidence of Non-MHC Genetic-Susceptibility Loci

American journal of human genetics, 2001-04, Vol.68 (4), p.918-926

2001

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Dual roles of hemidesmosomal proteins in the pancreatic epithelium: the phosphoinositide 3-kinase decides

Oncogene, 2014-04, Vol.33 (15), p.1934-1944

2014

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Reduced pressure–chemical vapor deposition of Ge thick layers on Si(001) for 1.3–1.55-μm photodetection

Journal of applied physics, 2004-05, Vol.95 (10), p.5905-5913

2004

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Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance

Human mutation, 2008-06, Vol.29 (6), p.809-822

2008

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Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue

Brain (London, England : 1878), 2009-01, Vol.132 (1), p.147-155

2009

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NHE1 inhibition as a potential therapy to attenuate DMD pathology

Neuromuscular disorders : NMD, 2017-03, Vol.27, p.S11-S11

2017

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NHE1 inhibition as a potential therapeutic strategy to attenuate DMD pathology

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S291-S292

2015

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G.P.111

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.828-828

2014

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P4 Pathophysiology of anoctaminopathy (LGMD2L)

Neuromuscular disorders : NMD, 2014-03, Vol.24, p.S8-S8

2014

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G.P.120

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.836-836

2014

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Reversing mdx cardiomyocyte hypertrophy in vitro

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S129-S130

2016

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Salbutamol benefits children with congenital myasthenic syndrome due to ALG2 mutation

Journal of the neurological sciences, 2015-10, Vol.357, p.e72-e72

2015

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Ultrahigh speed germanium-on-silicon-on-insulator photodetectors for 1.31 and 1.55 μ m operation

Applied physics letters, 2005-12, Vol.87 (23), p.231109-231109-3

2005

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A novel mutation in PIEZO2 in a family presenting with autosomal dominant myopathy, ptosis, external ophthalmoplegia and distal symphalangism

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S276-S277

2015

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P20 Optimised dystrophin mini-constructs for gene delivery

Neuromuscular disorders : NMD, 2014-03, Vol.24, p.S12-S12

2014

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Experimental evidence for superprism phenomena in SOI photonic crystals

Optics express, 2004-11, Vol.12 (23), p.5690-5696

2004

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O02 Optidystrophin in DMD stem cells

Neuromuscular disorders : NMD, 2014-03, Vol.24, p.S1-S1

2014

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P12 Hypertrophy in cardiomyocytes isolated from mdx embryos

Neuromuscular disorders : NMD, 2014-03, Vol.24, p.S10-S10

2014

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P77 Collagen XII; novel disease-causing candidate gene for Bethlem-like patients

Neuromuscular disorders : NMD, 2014-03, Vol.24, p.S27-S27

2014

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P11 Optimal dystrophin mini-construct for gene delivery to skeletal muscle

Neuromuscular disorders : NMD, 2012-03, Vol.22, p.S10-S10

2012

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P74 An MRI study of the effects of metoprolol on in vivo cardiac calcium homeostasis

Neuromuscular disorders : NMD, 2011, Vol.21, p.S28-S28

2011

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O.1 Collagen XII as a new disease gene for Bethlem-like myopathy

Neuromuscular disorders : NMD, 2013-10, Vol.23 (9), p.739-739

2013

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P.1.6 Investigating collagen VI biosynthesis and assembly in the context of ALG2 impairment in Ullrich/CMS-like family

Neuromuscular disorders : NMD, 2013-10, Vol.23 (9), p.743-743

2013

Volltextzugriff (PDF)

1 – 25 von 5.852

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Recurrence risk modelling of the genetic susceptibility to ankylosing spondylitis

Oculopharyngodistal myopathy is a distinct entity: clinical and genetic features of 47 patients

Whole-Genome Screening in Ankylosing Spondylitis: Evidence of Non-MHC Genetic-Susceptibility Loci

Dual roles of hemidesmosomal proteins in the pancreatic epithelium: the phosphoinositide 3-kinase decides

Reduced pressure–chemical vapor deposition of Ge thick layers on Si(001) for 1.3–1.55-μm photodetection

Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance

Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue

NHE1 inhibition as a potential therapy to attenuate DMD pathology

NHE1 inhibition as a potential therapeutic strategy to attenuate DMD pathology

G.P.111

P4 Pathophysiology of anoctaminopathy (LGMD2L)

G.P.120

Reversing mdx cardiomyocyte hypertrophy in vitro

Salbutamol benefits children with congenital myasthenic syndrome due to ALG2 mutation

Ultrahigh speed germanium-on-silicon-on-insulator photodetectors for 1.31 and 1.55 μ m operation

A novel mutation in PIEZO2 in a family presenting with autosomal dominant myopathy, ptosis, external ophthalmoplegia and distal symphalangism

P20 Optimised dystrophin mini-constructs for gene delivery

Experimental evidence for superprism phenomena in SOI photonic crystals

O02 Optidystrophin in DMD stem cells

P12 Hypertrophy in cardiomyocytes isolated from mdx embryos

P77 Collagen XII; novel disease-causing candidate gene for Bethlem-like patients

P11 Optimal dystrophin mini-construct for gene delivery to skeletal muscle

P74 An MRI study of the effects of metoprolol on in vivo cardiac calcium homeostasis

O.1 Collagen XII as a new disease gene for Bethlem-like myopathy

P.1.6 Investigating collagen VI biosynthesis and assembly in the context of ALG2 impairment in Ullrich/CMS-like family

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