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Increasing Role of Titin Mutations in Neuromuscular Disorders

Journal of neuromuscular diseases, 2016-08, Vol.3 (3), p.293-308

2016

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Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

Nature genetics, 2012-04, Vol.44 (4), p.450-455

2012

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Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1

Annals of neurology, 2013-04, Vol.73 (4), p.500-509

2013

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The complexity of titin splicing pattern in human adult skeletal muscles

Skeletal muscle, 2018-03, Vol.8 (1), p.11-11, Article 11

2018

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Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations

Annals of neurology, 2019-06, Vol.85 (6), p.899-906

2019

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Mutations in the J domain of DNAJB6 cause dominant distal myopathy

Neuromuscular disorders : NMD, 2020-01, Vol.30 (1), p.38-46

2020

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Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene

Neuromuscular disorders : NMD, 2019-02, Vol.29 (2), p.97-107

2019

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Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland

European journal of human genetics : EJHG, 2011-07, Vol.19 (7), p.776-782

2011

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Kinase Domain of Titin Controls Muscle Gene Expression and Protein Turnover

Science (American Association for the Advancement of Science), 2005-06, Vol.308 (5728), p.1599-1603

2005

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A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy

PloS one, 2017-10, Vol.12 (10), p.e0186642-e0186642

2017

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Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy

Molecular neurobiology, 2017-11, Vol.54 (9), p.7212-7223

2017

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Expanding the importance of HMERF titinopathy: new mutations and clinical aspects

Journal of neurology, 2019-03, Vol.266 (3), p.680-690

2019

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Atypical phenotypes in titinopathies explained by second titin mutations

Annals of neurology, 2014-02, Vol.75 (2), p.230-240

2014

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SIRT6 polymorphism rs117385980 is associated with longevity and healthy aging in Finnish men

BMC medical genetics, 2017-04, Vol.18 (1), p.41-41, Article 41

2017

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Revealing myopathy spectrum: integrating transcriptional and clinical features of human skeletal muscles with varying health conditions

Communications biology, 2024-04, Vol.7 (1), p.438-438, Article 438

2024

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Tibial Muscular Dystrophy Is a Titinopathy Caused by Mutations in TTN, the Gene Encoding the Giant Skeletal-Muscle Protein Titin

American journal of human genetics, 2002-09, Vol.71 (3), p.492-500

2002

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Gene expression profiling in tibial muscular dystrophy reveals unfolded protein response and altered autophagy

PloS one, 2014-03, Vol.9 (3), p.e90819-e90819

2014

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Adult‐onset dominant muscular dystrophy in Greek families caused by Annexin A11

Annals of clinical and translational neurology, 2022-10, Vol.9 (10), p.1660-1667

2022

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Distinct distal myopathy phenotype caused by VCP gene mutation in a Finnish family

Neuromuscular disorders : NMD, 2011-08, Vol.21 (8), p.551-555

2011

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Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD)

Neuromuscular disorders : NMD, 2008-12, Vol.18 (12), p.922-928

2008

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Long‐term favorable prognosis in late onset dominant distal titinopathy: Tibial muscular dystrophy

European journal of neurology, 2023-04, Vol.30 (4), p.1080-1088

2023

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Targeted next-generation sequencing assay for detection of mutations in primary myopathies

Neuromuscular disorders : NMD, 2016-01, Vol.26 (1), p.7-15

2016

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Improving Copy Number Variant Detection from Sequencing Data with a Combination of Programs and a Predictive Model

The Journal of molecular diagnostics : JMD, 2020-01, Vol.22 (1), p.40-49

2020

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Extension of the DNAJB2a isoform in a dominant neuromyopathy family

Human molecular genetics, 2023-10, Vol.32 (21), p.3029-3039

2023

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Comprehensive transcriptomic analysis shows disturbed calcium homeostasis and deregulation of T lymphocyte apoptosis in inclusion body myositis

Journal of neurology, 2022-08, Vol.269 (8), p.4161-4173

2022

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Increasing Role of Titin Mutations in Neuromuscular Disorders

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1

The complexity of titin splicing pattern in human adult skeletal muscles

Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations

Mutations in the J domain of DNAJB6 cause dominant distal myopathy

Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene

Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland

Kinase Domain of Titin Controls Muscle Gene Expression and Protein Turnover

A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy

Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy

Expanding the importance of HMERF titinopathy: new mutations and clinical aspects

Atypical phenotypes in titinopathies explained by second titin mutations

SIRT6 polymorphism rs117385980 is associated with longevity and healthy aging in Finnish men

Revealing myopathy spectrum: integrating transcriptional and clinical features of human skeletal muscles with varying health conditions

Tibial Muscular Dystrophy Is a Titinopathy Caused by Mutations in TTN, the Gene Encoding the Giant Skeletal-Muscle Protein Titin

Gene expression profiling in tibial muscular dystrophy reveals unfolded protein response and altered autophagy

Adult‐onset dominant muscular dystrophy in Greek families caused by Annexin A11

Distinct distal myopathy phenotype caused by VCP gene mutation in a Finnish family

Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD)

Long‐term favorable prognosis in late onset dominant distal titinopathy: Tibial muscular dystrophy

Targeted next-generation sequencing assay for detection of mutations in primary myopathies

Improving Copy Number Variant Detection from Sequencing Data with a Combination of Programs and a Predictive Model

Extension of the DNAJB2a isoform in a dominant neuromyopathy family

Comprehensive transcriptomic analysis shows disturbed calcium homeostasis and deregulation of T lymphocyte apoptosis in inclusion body myositis

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