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Hyaluronidase Embedded in Nanocarrier PEG Shell for Enhanced Tumor Penetration and Highly Efficient Antitumor Efficacy

Nano letters, 2016-05, Vol.16 (5), p.3268-3277

2016

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A Facile Approach to Functionalize Cell Membrane-Coated Nanoparticles

Theranostics, 2016-01, Vol.6 (7), p.1012-1022

2016

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ACTA1-related mild or typical nemaline myopathy in a three-generation Finnish family

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S132-S133

2016

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Core-rod myopathy caused by mutations in the nebulin gene

Neurology, 2009-10, Vol.73 (14), p.1159

2009

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Large copy number variants are common in the nebulin gene

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S135-S135

2016

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T.P.25 Development of the exon exchange method for repair of mutant nebulin transcripts

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.860-860

2012

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G.P.270

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.898-898

2014

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Functional studies of YBX3 variants associated with nemaline myopathy

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S134-S135

2016

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Functional assessment of nebulin missense variants

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S288-S288

2015

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P.9.3 Repair of mutant nebulin transcripts by exon exchange

Neuromuscular disorders : NMD, 2013-10, Vol.23 (9), p.784-784

2013

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Functional assessment of nebulin interactions with actin

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S133-S133

2016

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MicroRNA in Cervical Cancer: OncomiRs and Tumor Suppressor miRs in Diagnosis and Treatment

TheScientificWorld, 2014-01, Vol.2014, p.178075-8

2014

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Targeted array comparative genomic hybridization – A new diagnostic tool for the detection of large copy number variations in nemaline myopathy-causing genes

Neuromuscular disorders : NMD, 2013-01, Vol.23 (1), p.56-65

2013

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Mutations in the β-tropomyosin ( TPM2) gene – a rare cause of nemaline myopathy

Neuromuscular disorders : NMD, 2002-02, Vol.12 (2), p.151-158

2002

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G.P.266

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.897-897

2014

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G.P.274

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.899-899

2014

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P3.13 Reprogramming nebulin pre-mRNA splicing by spliceosome-mediated RNA trans-splicing

Neuromuscular disorders : NMD, 2010-10, Vol.20 (9), p.644-644

2010

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Ectodermal dysplasia–skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1

Journal of dermatological science, 2016-11, Vol.84 (2), p.210-212

2016

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Differential isoform expression and selective muscle involvement in muscular dystrophies

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S312-S312

2015

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VP.01 Array comparative genomic hybridisation and droplet digital PCR uncover recurrent copy number variation of the titin segmental duplication region

Neuromuscular disorders : NMD, 2022-10, Vol.32, p.S47

2022

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C.P.13 The clinical spectrum of entities caused by mutations in the nebulin gene

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.844-845

2012

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P3.46 Studying the pathogenesis of nebulin-caused nemaline myopathy and related disorders

Neuromuscular disorders : NMD, 2011-10, Vol.21 (9), p.696-696

2011

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P1.40 dHLPC for mutation analysis of β- and α(slow)-tropomyosins ( TPM2 and TPM3 )

Neuromuscular disorders : NMD, 2010-10, Vol.20 (9), p.612-612

2010

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A Large Deletion Affecting TPM3, Causing Severe Nemaline Myopathy

Journal of neuromuscular diseases, 2015-09, Vol.2 (4), p.433-438

2015

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D.P.13 Targeted array CGH analysis of the nebulin gene: Identification of large deletions causing nemaline myopathy

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.811-811

2012

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Hyaluronidase Embedded in Nanocarrier PEG Shell for Enhanced Tumor Penetration and Highly Efficient Antitumor Efficacy

A Facile Approach to Functionalize Cell Membrane-Coated Nanoparticles

ACTA1-related mild or typical nemaline myopathy in a three-generation Finnish family

Core-rod myopathy caused by mutations in the nebulin gene

Large copy number variants are common in the nebulin gene

T.P.25 Development of the exon exchange method for repair of mutant nebulin transcripts

G.P.270

Functional studies of YBX3 variants associated with nemaline myopathy

Functional assessment of nebulin missense variants

P.9.3 Repair of mutant nebulin transcripts by exon exchange

Functional assessment of nebulin interactions with actin

MicroRNA in Cervical Cancer: OncomiRs and Tumor Suppressor miRs in Diagnosis and Treatment

Targeted array comparative genomic hybridization – A new diagnostic tool for the detection of large copy number variations in nemaline myopathy-causing genes

Mutations in the β-tropomyosin ( TPM2) gene – a rare cause of nemaline myopathy

G.P.266

G.P.274

P3.13 Reprogramming nebulin pre-mRNA splicing by spliceosome-mediated RNA trans-splicing

Ectodermal dysplasia–skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1

Differential isoform expression and selective muscle involvement in muscular dystrophies

VP.01 Array comparative genomic hybridisation and droplet digital PCR uncover recurrent copy number variation of the titin segmental duplication region

C.P.13 The clinical spectrum of entities caused by mutations in the nebulin gene

P3.46 Studying the pathogenesis of nebulin-caused nemaline myopathy and related disorders

P1.40 dHLPC for mutation analysis of β- and α(slow)-tropomyosins ( TPM2 and TPM3 )

A Large Deletion Affecting TPM3, Causing Severe Nemaline Myopathy

D.P.13 Targeted array CGH analysis of the nebulin gene: Identification of large deletions causing nemaline myopathy

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