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New aspects of myofibrillar myopathies

Current opinion in neurology, 2016-10, Vol.29 (5), p.628-634

2016

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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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Myofibrillar myopathies: new developments

Current opinion in neurology, 2013-10, Vol.26 (5), p.527-535

2013

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Extralysosomal Protein Degradation in Myofibrillar Myopathies

Brain pathology (Zurich, Switzerland), 2009-07, Vol.19 (3), p.507-515

Olive, Montse

2009

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Impaired muscle morphology in a Drosophila model of myosin storage myopathy was suppressed by overexpression of an E3 ubiquitin ligase

Disease models & mechanisms, 2020-12, Vol.13 (12)

2020

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Intermediate filament diseases: desminopathy

Advances in experimental medicine and biology, 2008, Vol.642, p.131

2008

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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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TAR DNA-Binding Protein 43 Accumulation in Protein Aggregate Myopathies

Journal of neuropathology and experimental neurology, 2009-03, Vol.68 (3), p.262-273

2009

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Oxidative Stress in Desminopathies and Myotilinopathies: A Link between Oxidative Damage and Abnormal Protein Aggregation

Brain pathology (Zurich, Switzerland), 2007-10, Vol.17 (4), p.377-388

2007

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Late onset distal myopathy: A new telethoninopathy

Neuromuscular disorders : NMD, 2019-01, Vol.29 (1), p.80-83

2019

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Telethonin-deficiency initially presenting as a congenital muscular dystrophy

Neuromuscular disorders : NMD, 2011-06, Vol.21 (6), p.433-438

2011

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Novel mutation in TCAP manifesting with asymmetric calves and early-onset joint retractions

Neuromuscular disorders : NMD, 2016-11, Vol.26 (11), p.749-753

2016

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A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failure

Neuromuscular disorders : NMD, 2014-03, Vol.24 (3), p.241-244

2014

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Motor neuron diseases caused by a novel VRK1 variant – A genotype/phenotype study

Annals of clinical and translational neurology, 2019-11, Vol.6 (11), p.2197-2204

2019

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Filamin C-related myopathies: pathology and mechanisms

Acta neuropathologica, 2013-01, Vol.125 (1), p.33-46

2013

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Myotilinopathy: refining the clinical and myopathological phenotype

Brain (London, England : 1878), 2005-10, Vol.128 (10), p.2315-2326

2005

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Dilated Cardiomyopathy and Hydroxychloroquine-induced Phospholipidosis: From Curvilinear Bodies to Clinical Suspicion

Revista española de cardiología (English ed.), 2018-06, Vol.71 (6), p.491-493

2018

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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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1st ENMC European meeting: The EURO-NMD pathology working group Recommended Standards for Muscle Pathology Amsterdam, The Netherlands, 7 December 2018

Neuromuscular disorders : NMD, 2019-06, Vol.29 (6), p.483-485

2019

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Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations

Brain (London, England : 1878), 2014-12, Vol.137 (Pt 12), p.3160-3170

2014

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Hypoxia triggers IFN-I production in muscle: Implications in dermatomyositis

Scientific reports, 2017-08, Vol.7 (1), p.8595-9, Article 8595

2017

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Rituximab in myasthenia gravis: efficacy, associated infections and risk of induced hypogammaglobulinemia

Neuromuscular disorders : NMD, 2022-08, Vol.32 (8), p.664-671

2022

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Differences in Adipose Tissue and Lean Mass Distribution in Patients with Collagen VI Related Myopathies Are Associated with Disease Severity and Physical Ability

Frontiers in aging neuroscience, 2017-08, Vol.9, p.268-268

2017

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Late-onset thymidine kinase 2 deficiency: a review of 18 cases

Orphanet journal of rare diseases, 2019-05, Vol.14 (1), p.100-100, Article 100

2019

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Distal hereditary motor neuronopathy as a new phenotype associated with variants in BAG3

Journal of neurology, 2024-02, Vol.271 (2), p.986-994

2024

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New aspects of myofibrillar myopathies

Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations

Myofibrillar myopathies: new developments

Extralysosomal Protein Degradation in Myofibrillar Myopathies

Impaired muscle morphology in a Drosophila model of myosin storage myopathy was suppressed by overexpression of an E3 ubiquitin ligase

Intermediate filament diseases: desminopathy

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

TAR DNA-Binding Protein 43 Accumulation in Protein Aggregate Myopathies

Oxidative Stress in Desminopathies and Myotilinopathies: A Link between Oxidative Damage and Abnormal Protein Aggregation

Late onset distal myopathy: A new telethoninopathy

Telethonin-deficiency initially presenting as a congenital muscular dystrophy

Novel mutation in TCAP manifesting with asymmetric calves and early-onset joint retractions

A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failure

Motor neuron diseases caused by a novel VRK1 variant – A genotype/phenotype study

Filamin C-related myopathies: pathology and mechanisms

Myotilinopathy: refining the clinical and myopathological phenotype

Dilated Cardiomyopathy and Hydroxychloroquine-induced Phospholipidosis: From Curvilinear Bodies to Clinical Suspicion

Mutations in the J domain of DNAJB6 cause dominant distal myopathy

1st ENMC European meeting: The EURO-NMD pathology working group Recommended Standards for Muscle Pathology Amsterdam, The Netherlands, 7 December 2018

Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations

Hypoxia triggers IFN-I production in muscle: Implications in dermatomyositis

Rituximab in myasthenia gravis: efficacy, associated infections and risk of induced hypogammaglobulinemia

Differences in Adipose Tissue and Lean Mass Distribution in Patients with Collagen VI Related Myopathies Are Associated with Disease Severity and Physical Ability

Late-onset thymidine kinase 2 deficiency: a review of 18 cases

Distal hereditary motor neuronopathy as a new phenotype associated with variants in BAG3

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