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Expansion of the GLE1‐associated arthrogryposis multiplex congenita clinical spectrum

Clinical genetics, 2017-03, Vol.91 (3), p.426-430

2017

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Phenotypic variability of a likely FA2H founder mutation in a family with complicated hereditary spastic paraplegia

Clinical genetics, 2014-04, Vol.85 (4), p.393-395

2014

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Familial reducing body myopathy with cytoplasmic bodies and rigid spine revisited: identification of a second LIM domain mutation in FHL1

Neuropediatrics, 2010-02, Vol.41 (1), p.43-46

2010

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Mutation-specific effects on thin filament length in thin filament myopathy

Annals of neurology, 2016-06, Vol.79 (6), p.959-969

2016

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Mild and severe muscular dystrophy caused by a single γ-sarcoglycan mutation

American journal of human genetics, 1996-11, Vol.59 (5), p.1040-1047

1996

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Clinical and molecular overlap between myopathies and inherited connective tissue diseases

Neuromuscular disorders : NMD, 2008-11, Vol.18 (11), p.843-856

2008

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Identification of FLRT1, FLRT2, and FLRT3: A Novel Family of Transmembrane Leucine-Rich Repeat Proteins

Genomics (San Diego, Calif.), 1999-12, Vol.62 (3), p.417-426

1999

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212th ENMC International Workshop:: Animal models of congenital muscular dystrophies, Naarden, The Netherlands, 29–31 May 2015

Neuromuscular disorders : NMD, 2016-03, Vol.26 (3), p.252-259

2016

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173rd ENMC international workshop: Congenital muscular dystrophy outcome measures 5–7 March 2010, Naarden, The Netherlands

Neuromuscular disorders : NMD, 2011-07, Vol.21 (7), p.513-522

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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Filamin C accumulation is a strong but nonspecific immunohistochemical marker of core formation in muscle

Journal of the neurological sciences, 2003-01, Vol.206 (1), p.71-78

2003

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Zebrafish models of collagen VI-related myopathies

Human molecular genetics, 2010-06, Vol.19 (12), p.2433-2444

2010

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Myopathy and polyneuropathy in an adolescent with the kyphoscoliotic type of Ehlers-Danlos syndrome

American journal of medical genetics. Part A, 2009-10, Vol.149A (10), p.2311-2316

2009

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Muscle ultrasound in Bethlem myopathy

Neuropediatrics, 2003-12, Vol.34 (6), p.335-336

2003

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The neuromuscular differential diagnosis of joint hypermobility; S. Donkervoort, C. G. Bönnemann, B. Loeys, H. Jungbluth, and N. C. Voermans; Am J Med Genet C Semin Med Genet. 2015 Mar;169(1):23-42

American journal of medical genetics. Part A, 2016-01, Vol.170A (1), p.285-286

2016

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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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The neuromuscular differential diagnosis of joint hypermobility

American journal of medical genetics. Part C, Seminars in medical genetics, 2015-03, Vol.169C (1), p.23-42

2015

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A refined diagnostic algorithm for Bethlem myopathy

Neurology, 2008-04, Vol.70 (14), p.1192-1199

2008

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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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Muscle MRI in FHL1-linked reducing body myopathy

Neuromuscular disorders : NMD, 2009-10, Vol.19 (10), p.689-691

2009

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Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy

Journal of neurology, 2000-07, Vol.247 (7), p.524-529

2000

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Congenital Disorders of Muscle: Genes and Mechanisms

Neuropediatrics, 2016, Vol.47 (S 01)

Bönnemann, C.

2016

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Phenotypic variability in siblings with calpainopathy (LGMD2A)

Acta myologica, 2008-10, Vol.27 (2), p.54-58

2008

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β-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex

Nature genetics, 1995-11, Vol.11 (3), p.266-273

1995

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Expansion of the GLE1‐associated arthrogryposis multiplex congenita clinical spectrum

Phenotypic variability of a likely FA2H founder mutation in a family with complicated hereditary spastic paraplegia

Familial reducing body myopathy with cytoplasmic bodies and rigid spine revisited: identification of a second LIM domain mutation in FHL1

Mutation-specific effects on thin filament length in thin filament myopathy

MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement

Mild and severe muscular dystrophy caused by a single γ-sarcoglycan mutation

Clinical and molecular overlap between myopathies and inherited connective tissue diseases

Identification of FLRT1, FLRT2, and FLRT3: A Novel Family of Transmembrane Leucine-Rich Repeat Proteins

212th ENMC International Workshop:: Animal models of congenital muscular dystrophies, Naarden, The Netherlands, 29–31 May 2015

173rd ENMC international workshop: Congenital muscular dystrophy outcome measures 5–7 March 2010, Naarden, The Netherlands

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

Filamin C accumulation is a strong but nonspecific immunohistochemical marker of core formation in muscle

Zebrafish models of collagen VI-related myopathies

Myopathy and polyneuropathy in an adolescent with the kyphoscoliotic type of Ehlers-Danlos syndrome

Muscle ultrasound in Bethlem myopathy

The neuromuscular differential diagnosis of joint hypermobility; S. Donkervoort, C. G. Bönnemann, B. Loeys, H. Jungbluth, and N. C. Voermans; Am J Med Genet C Semin Med Genet. 2015 Mar;169(1):23-42

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

The neuromuscular differential diagnosis of joint hypermobility

A refined diagnostic algorithm for Bethlem myopathy

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

Muscle MRI in FHL1-linked reducing body myopathy

Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy

Congenital Disorders of Muscle: Genes and Mechanisms

Phenotypic variability in siblings with calpainopathy (LGMD2A)

β-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex

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