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Limb-girdle muscular dystrophies - from genetics to molecular pathology

Neuropathology and applied neurobiology, 2004-04, Vol.30 (2), p.91-105

2004

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Size influence on the propagation loss induced by sidewall roughness in ultrasmall SOI waveguides

IEEE photonics technology letters, 2004-07, Vol.16 (7), p.1661-1663

2004

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Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy

Journal of medical genetics, 2005-02, Vol.42 (2), p.108-120

2005

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Propagation loss in single-mode ultrasmall square silicon-on-insulator optical waveguides

Journal of lightwave technology, 2006-02, Vol.24 (2), p.891-896

2006

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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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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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Light injection in SOI microwaveguides using high-efficiency grating couplers

Journal of lightwave technology, 2006-10, Vol.24 (10), p.3810-3815

2006

Volltextzugriff (PDF)

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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Polarization-independent single-mode rib waveguides on silicon-on-insulator for telecommunication wavelengths

Optics communications, 2002-09, Vol.210 (1), p.43-49

2002

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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

Volltextzugriff (PDF)

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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P88 Using whole exome sequencing to identify the mutation causing oculopharyngodistal myopathy

Neuromuscular disorders : NMD, 2012-03, Vol.22, p.S31-S32

2012

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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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2-D taper for low-loss coupling between polarization-insensitive microwaveguides and single-mode optical fibers

Journal of lightwave technology, 2003-10, Vol.21 (10), p.2429-2433

2003

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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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1 – 25 von 5.794

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Limb-girdle muscular dystrophies - from genetics to molecular pathology

Size influence on the propagation loss induced by sidewall roughness in ultrasmall SOI waveguides

Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy

Propagation loss in single-mode ultrasmall square silicon-on-insulator optical waveguides

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

NHE1 inhibition as a potential therapy to attenuate DMD pathology

Light injection in SOI microwaveguides using high-efficiency grating couplers

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

Polarization-independent single-mode rib waveguides on silicon-on-insulator for telecommunication wavelengths

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

P88 Using whole exome sequencing to identify the mutation causing oculopharyngodistal myopathy

O02 Optidystrophin in DMD stem cells

P12 Hypertrophy in cardiomyocytes isolated from mdx embryos

2-D taper for low-loss coupling between polarization-insensitive microwaveguides and single-mode optical fibers

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

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