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Myopathology in congenital myopathies

Neuropathology and applied neurobiology, 2017-02, Vol.43 (1), p.5-23

2017

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Mutations in amphiphysin 2 ( BIN1 ) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy

Nature genetics, 2007-09, Vol.39 (9), p.1134-1139

2007

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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.1159-1161

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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Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy

Neurology, 2002-08, Vol.59 (4), p.613-617

2002

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G.P.270

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

2014

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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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Functional assessment of nebulin interactions with actin

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

2016

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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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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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G.P.274

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

2014

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G.P.266

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

2014

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X-linked myotubular myopathy in ambulant patients

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S116-S116

2016

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C.P.16 Mutations in the β-tropomyosin (TPM2) and γ-tropomyosin (TPM3) genes causing a spectrum of neuromuscular disorders

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.845-846

2012

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P.9.8 Nemaline myopathy: Mutations in alternatively spliced exons of the nebulin gene

Neuromuscular disorders : NMD, 2013-10, Vol.23 (9), p.785-786

2013

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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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G.P.268

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

2014

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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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P.9.7 Skeletal muscle biopsy reappraisal in nebulin-related nemaline myopathy

Neuromuscular disorders : NMD, 2013-10, Vol.23 (9), p.785-785

2013

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High prevalence of Kennedy's disease in Western Finland - is the syndrome underdiagnosed?

Acta neurologica Scandinavica, 1998-08, Vol.98 (2), p.128-133

1998

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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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C.P.18 Skeletal muscle myopathy mutations at the actin tropomyosin interface that cause gain or loss of function

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.846-846

2012

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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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Myopathology in congenital myopathies

Mutations in amphiphysin 2 ( BIN1 ) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy

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

Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy

G.P.270

Functional assessment of nebulin missense variants

Functional assessment of nebulin interactions with actin

Functional studies of YBX3 variants associated with nemaline myopathy

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

G.P.274

G.P.266

X-linked myotubular myopathy in ambulant patients

C.P.16 Mutations in the β-tropomyosin (TPM2) and γ-tropomyosin (TPM3) genes causing a spectrum of neuromuscular disorders

P.9.8 Nemaline myopathy: Mutations in alternatively spliced exons of the nebulin gene

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

G.P.268

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 )

P.9.7 Skeletal muscle biopsy reappraisal in nebulin-related nemaline myopathy

High prevalence of Kennedy's disease in Western Finland - is the syndrome underdiagnosed?

A Large Deletion Affecting TPM3, Causing Severe Nemaline Myopathy

C.P.18 Skeletal muscle myopathy mutations at the actin tropomyosin interface that cause gain or loss of function

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

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