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

Neurology, 2011-01, Vol.76 (3), p.227-235

2011

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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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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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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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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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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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Low-loss submicrometer silicon-on-insulator rib waveguides and corner mirrors

Optics letters, 2003-07, Vol.28 (13), p.1150

2003

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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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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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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

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

Recurrence risk modelling of the genetic susceptibility to ankylosing spondylitis

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

Low-loss submicrometer silicon-on-insulator rib waveguides and corner mirrors

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

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

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