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215th ENMC International Workshop VCP-related multi-system proteinopathy (IBMPFD) 13–15 November 2015, Heemskerk, The Netherlands

Neuromuscular disorders : NMD, 2016-08, Vol.26 (8), p.535-547

2016

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246th ENMC International Workshop: Protein aggregate myopathies 24–26 May 2019, Hoofddorp, The Netherlands

Neuromuscular disorders : NMD, 2021-02, Vol.31 (2), p.158-166

2021

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201st ENMC International Workshop: Autophagy in muscular dystrophies – Translational approach, 1–3 November 2013, Bussum, The Netherlands

Neuromuscular disorders : NMD, 2014-06, Vol.24 (6), p.546-561

2014

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O07 Using proteomic profiling to decipher the pathogenesis of myofibrillar myopathies

Neuromuscular disorders : NMD, 2014-03, Vol.24, p.S2-S2

Kley, R.A

2014

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Autoimmune rippling muscle disease: IgG antibodies bind to human muscle fibers

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S203-S203

2016

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Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum

Neuromuscular disorders : NMD, 2015-09, Vol.25 (9), p.719-724

2015

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P.99 - Reliability of DTI-based muscle-volumetry as compared to conventional T1-based manual segmentation

Neuromuscular disorders : NMD, 2017-10, Vol.27, p.S127-S127

2017

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Reliability of DTI-based muscle-volumetry as compared to conventional T1-based manual segmentation

Neuromuscular disorders : NMD, 2017-10, Vol.27, p.S127

2017

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Widening the spectrum of filamin-C myopathy: predominantly proximal myopathy due to the p.A193T mutation in the actin-binding domain of FLNC

Neuromuscular disorders : NMD, 2017-01, Vol.27 (1), p.73-77

2017

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P.396 - Autoimmune rippling muscle disease: IgG antibodies bind to human muscle fibers

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S203-S203

2016

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INFLAMMATORY MYOPATHIES

Neuromuscular disorders : NMD, 2018-10, Vol.28, p.S77

2018

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INFLAMMATORY MYOPATHIES: P.160A bioinformatics approach to define the aggregation capacity of the myofiber proteome in inclusion body myositis

Neuromuscular disorders : NMD, 2018-10, Vol.28, p.S77-S77

2018

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Two novel nebulin variants in an adult patient with congenital nemaline myopathy

Neuromuscular disorders : NMD, 2015-05, Vol.25 (5), p.392-396

2015

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G.P.57 Differential proteomic analysis of protein aggregates in desminopathy

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.821-821

2012

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O.4 Proteomic analysis confirms that HMERF associated with mutations in A-band titin is a new subtype of myofibrillar myopathies

Neuromuscular disorders : NMD, 2013-10, Vol.23 (9), p.740-740

2013

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G.O.5 Deciphering protein aggregates in myofibrillar myopathies – A proteomics approach

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.874-874

2012

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G.P.64

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.813-814

2014

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P5.57 Proteomic analysis of protein aggregates in filaminopathy

Neuromuscular disorders : NMD, 2011-10, Vol.21 (9), p.741-741

2011

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P.15.6 Desminopathy or myotilinopathy? An integrated proteomics approach for diagnosis

Neuromuscular disorders : NMD, 2013-10, Vol.23 (9), p.820-820

2013

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P.21.3 Skeletal muscle provides a permissive environment for Th2-M2 polarisation in neuromuscular sarcoidosis

Neuromuscular disorders : NMD, 2013-10, Vol.23 (9), p.844-844

2013

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G.P.69

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.815-815

2014

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A.P.2

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.830-831

2014

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P3.54 Creatine for treating muscle disorders: meta-analysis of randomised controlled trials

Neuromuscular disorders : NMD, 2010-10, Vol.20 (9), p.657-658

2010

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P5.56 Myofibrillar myopathy associated with filamin C mutations: Refining the phenotype and new insights in pathogenesis

Neuromuscular disorders : NMD, 2011-10, Vol.21 (9), p.741-741

2011

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A.P.3

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.831-831

2014

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215th ENMC International Workshop VCP-related multi-system proteinopathy (IBMPFD) 13–15 November 2015, Heemskerk, The Netherlands

246th ENMC International Workshop: Protein aggregate myopathies 24–26 May 2019, Hoofddorp, The Netherlands

201st ENMC International Workshop: Autophagy in muscular dystrophies – Translational approach, 1–3 November 2013, Bussum, The Netherlands

O07 Using proteomic profiling to decipher the pathogenesis of myofibrillar myopathies

Autoimmune rippling muscle disease: IgG antibodies bind to human muscle fibers

Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum

P.99 - Reliability of DTI-based muscle-volumetry as compared to conventional T1-based manual segmentation

Reliability of DTI-based muscle-volumetry as compared to conventional T1-based manual segmentation

Widening the spectrum of filamin-C myopathy: predominantly proximal myopathy due to the p.A193T mutation in the actin-binding domain of FLNC

P.396 - Autoimmune rippling muscle disease: IgG antibodies bind to human muscle fibers

INFLAMMATORY MYOPATHIES

INFLAMMATORY MYOPATHIES: P.160A bioinformatics approach to define the aggregation capacity of the myofiber proteome in inclusion body myositis

Two novel nebulin variants in an adult patient with congenital nemaline myopathy

G.P.57 Differential proteomic analysis of protein aggregates in desminopathy

O.4 Proteomic analysis confirms that HMERF associated with mutations in A-band titin is a new subtype of myofibrillar myopathies

G.O.5 Deciphering protein aggregates in myofibrillar myopathies – A proteomics approach

G.P.64

P5.57 Proteomic analysis of protein aggregates in filaminopathy

P.15.6 Desminopathy or myotilinopathy? An integrated proteomics approach for diagnosis

P.21.3 Skeletal muscle provides a permissive environment for Th2-M2 polarisation in neuromuscular sarcoidosis

G.P.69

A.P.2

P3.54 Creatine for treating muscle disorders: meta-analysis of randomised controlled trials

P5.56 Myofibrillar myopathy associated with filamin C mutations: Refining the phenotype and new insights in pathogenesis

A.P.3

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