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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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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

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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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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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IEEE_Xplore

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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IEEE_Xplore

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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Recent Progress in High-Speed Silicon-Based Optical Modulators

Proceedings of the IEEE, 2009-07, Vol.97 (7), p.1199-1215

2009

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IEEE_Xplore

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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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

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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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Light injection in SOI microwaveguides using high-efficiency grating couplers

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

2006

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IEEE_Xplore

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

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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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Recurrence risk modelling of the genetic susceptibility to ankylosing spondylitis

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

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

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

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

Recent Progress in High-Speed Silicon-Based Optical Modulators

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

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

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

Light injection in SOI microwaveguides using high-efficiency grating couplers

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

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