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The myotonic dystrophies: molecular, clinical, and therapeutic challenges

Lancet neurology, 2012-10, Vol.11 (10), p.891-905

2012

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Distal myopathies – New genetic entities expand diagnostic challenge

Neuromuscular disorders : NMD, 2012-01, Vol.22 (1), p.5-12

Udd, Bjarne

2012

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Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results

International journal of molecular sciences, 2020-02, Vol.21 (4), p.1409

2020

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229th ENMC international workshop: Limb girdle muscular dystrophies – Nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017

Neuromuscular disorders : NMD, 2018-08, Vol.28 (8), p.702-710

2018

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Late onset spinal motor neuronopathy is caused by mutation in CHCHD10

Annals of neurology, 2015-01, Vol.77 (1), p.163-172

2015

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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

2012

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rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences

Nature communications, 2018-05, Vol.9 (1), p.2009-15, Article 2009

2018

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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 constantly evolving spectrum of phenotypes in titinopathies - will it ever stop?

Current opinion in neurology, 2020-10, Vol.33 (5), p.604

Udd, Bjarne

2020

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Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield

Scientific reports, 2024-02, Vol.14 (1), p.4306-4306, Article 4306

2024

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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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Distinct Muscle Biopsy Findings in Genetically Defined Adult-Onset Motor Neuron Disorders

PloS one, 2016-03, Vol.11 (3), p.e0151376-e0151376

2016

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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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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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Proteomics profiling of urine reveals specific titin fragments as biomarkers of Duchenne muscular dystrophy

Neuromuscular disorders : NMD, 2014-07, Vol.24 (7), p.563-573

2014

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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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Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions

Acta neuropathologica, 2021-08, Vol.142 (2), p.375-393

2021

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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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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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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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Serum proteomic profiling reveals fragments of MYOM3 as potential biomarkers for monitoring the outcome of therapeutic interventions in muscular dystrophies

Human molecular genetics, 2015-09, Vol.24 (17), p.4916-4932

2015

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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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CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy

Human molecular genetics, 2015-07, Vol.24 (13), p.3718-3731

2015

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The myotonic dystrophies: molecular, clinical, and therapeutic challenges

Distal myopathies – New genetic entities expand diagnostic challenge

Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results

229th ENMC international workshop: Limb girdle muscular dystrophies – Nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017

Late onset spinal motor neuronopathy is caused by mutation in CHCHD10

Increasing Role of Titin Mutations in Neuromuscular Disorders

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

rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences

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

The constantly evolving spectrum of phenotypes in titinopathies - will it ever stop?

Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases

Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield

Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations

Distinct Muscle Biopsy Findings in Genetically Defined Adult-Onset Motor Neuron Disorders

Mutations in the J domain of DNAJB6 cause dominant distal myopathy

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

Proteomics profiling of urine reveals specific titin fragments as biomarkers of Duchenne muscular dystrophy

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

Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions

Atypical phenotypes in titinopathies explained by second titin mutations

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

Kinase Domain of Titin Controls Muscle Gene Expression and Protein Turnover

Serum proteomic profiling reveals fragments of MYOM3 as potential biomarkers for monitoring the outcome of therapeutic interventions in muscular dystrophies

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

CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy

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