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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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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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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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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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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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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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Mutation update for the ACTN2 gene

Human mutation, 2022-12, Vol.43 (12), p.1745-1756

2022

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TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations

The Journal of clinical investigation, 2018-03, Vol.128 (3), p.1164-1177

2018

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Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

European journal of human genetics : EJHG, 2021-09, Vol.29 (9), p.1325-1331

2021

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Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

European journal of human genetics : EJHG, 2021-09, Vol.29 (9), p.1337-1347

2021

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SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles

Neurology, 2015-08, Vol.85 (8), p.665-674

2015

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The role of titin in muscular disorders

Annals of medicine (Helsinki), 2003, Vol.35 (6), p.434-441

2003

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Mutation screening of SEMA3A and SEMA7A in patients with congenital hypogonadotropic hypogonadism

Pediatric research, 2014-05, Vol.75 (5), p.641-644

2014

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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

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

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

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

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

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

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

Mutation update for the ACTN2 gene

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles

The role of titin in muscular disorders

Mutation screening of SEMA3A and SEMA7A in patients with congenital hypogonadotropic hypogonadism

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