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Therapeutic HNF4A mRNA attenuates liver fibrosis in a preclinical model

Journal of hepatology, 2021-12, Vol.75 (6), p.1420-1433

2021

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Constitutive Activation of the Calcium Sensor STIM1 Causes Tubular-Aggregate Myopathy

American journal of human genetics, 2013-02, Vol.92 (2), p.271-278

2013

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Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1

Journal of medical genetics, 2014-12, Vol.51 (12), p.824-833

2014

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Severe protein aggregate myopathy in a knockout mouse model points to an essential role of cofilin2 in sarcomeric actin exchange and muscle maintenance

European journal of cell biology, 2014-05, Vol.93 (5-6), p.252-266

2014

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Treadmill exercise intervention improves gait and postural control in alpha-synuclein mouse models without inducing cerebral autophagy

Behavioural brain research, 2019-05, Vol.363, p.199-215

2019

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CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy

Acta neuropathologica, 2018-01, Vol.135 (1), p.149-151

2018

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Pathogenic DPAGT1 variants in limb‐girdle congenital myasthenic syndrome (LG‐CMS) associated with tubular aggregates and ORAI1 hypoglycosylation

Neuropathology and applied neurobiology, 2024-02, Vol.50 (1), p.e12952-n/a

2024

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Homozygous expression of the myofibrillar myopathy-associated p.W2710X filamin C variant reveals major pathomechanisms of sarcomeric lesion formation

Acta neuropathologica communications, 2020-09, Vol.8 (1), p.1-154, Article 154

2020

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Phenylalanine hydroxylase mRNA rescues the phenylketonuria phenotype in mice

Frontiers in bioengineering and biotechnology, 2022-10, Vol.10, p.993298-993298

2022

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Myofibrillar instability exacerbated by acute exercise in filaminopathy

Human molecular genetics, 2015-12, Vol.24 (25), p.7207-7220

2015

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MUSK, a new target for mutations causing congenital myasthenic syndrome

Human molecular genetics, 2004-12, Vol.13 (24), p.3229-3240

2004

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Identification of an Agrin Mutation that Causes Congenital Myasthenia and Affects Synapse Function

American journal of human genetics, 2009-08, Vol.85 (2), p.155-167

2009

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mRNA as a Novel Treatment Strategy for Hereditary Spastic Paraplegia Type 5

Molecular therapy. Methods & clinical development, 2019-12, Vol.15, p.359-370

2019

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C9ORF72‐ALS: P62‐ and ubiquitin‐aggregation pathology in skeletal muscle

Muscle & nerve, 2014-09, Vol.50 (3), p.454-455

2014

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A new mouse model for the slow-channel congenital myasthenic syndrome induced by the AChR εL221F mutation

Neurobiology of disease, 2012-03, Vol.45 (3), p.851-861

2012

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A mouse model for congenital myasthenic syndrome due to MuSK mutations reveals defects in structure and function of neuromuscular junctions

Human molecular genetics, 2008-11, Vol.17 (22), p.3577-3595

2008

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Atypical nuclear abnormalities in a patient with Brody disease

Neuromuscular disorders : NMD, 2015-10, Vol.25 (10), p.773-779

2015

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Multisystem disorder and limb girdle muscular dystrophy caused by LMNA p.R28W mutation

Neuromuscular disorders : NMD, 2013-07, Vol.23 (7), p.587-590

2013

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C9ORF72-ALS: P62- and ubiquitin-aggregation pathology in skeletal muscle

Muscle & nerve, 2014-09, Vol.50 (3), p.454-455

2014

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The origin of tubular aggregates in human myopathies

The Journal of pathology, 2005-11, Vol.207 (3), p.313-323

2005

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Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue

Acta neuropathologica, 2016-09, Vol.132 (3), p.453-473

2016

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mRNA-based therapy proves superior to the standard of care for treating hereditary tyrosinemia 1 in a mouse model

Molecular therapy. Methods & clinical development, 2022-09, Vol.26, p.294-308

2022

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The neuromuscular junction: Selective remodeling of synaptic regulators at the nerve/muscle interface

Mechanisms of development, 2013-06, Vol.130 (6-8), p.402-411

2013

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Therapeutic HNF4A mRNA attenuates liver fibrosis in a preclinical model

Constitutive Activation of the Calcium Sensor STIM1 Causes Tubular-Aggregate Myopathy

Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1

Severe protein aggregate myopathy in a knockout mouse model points to an essential role of cofilin2 in sarcomeric actin exchange and muscle maintenance

Treadmill exercise intervention improves gait and postural control in alpha-synuclein mouse models without inducing cerebral autophagy

CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy

Pathogenic DPAGT1 variants in limb‐girdle congenital myasthenic syndrome (LG‐CMS) associated with tubular aggregates and ORAI1 hypoglycosylation

Homozygous expression of the myofibrillar myopathy-associated p.W2710X filamin C variant reveals major pathomechanisms of sarcomeric lesion formation

Phenylalanine hydroxylase mRNA rescues the phenylketonuria phenotype in mice

Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients

Myofibrillar instability exacerbated by acute exercise in filaminopathy

MUSK, a new target for mutations causing congenital myasthenic syndrome

Identification of an Agrin Mutation that Causes Congenital Myasthenia and Affects Synapse Function

mRNA as a Novel Treatment Strategy for Hereditary Spastic Paraplegia Type 5

Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy

C9ORF72‐ALS: P62‐ and ubiquitin‐aggregation pathology in skeletal muscle

A new mouse model for the slow-channel congenital myasthenic syndrome induced by the AChR εL221F mutation

A mouse model for congenital myasthenic syndrome due to MuSK mutations reveals defects in structure and function of neuromuscular junctions

Atypical nuclear abnormalities in a patient with Brody disease

Multisystem disorder and limb girdle muscular dystrophy caused by LMNA p.R28W mutation

C9ORF72-ALS: P62- and ubiquitin-aggregation pathology in skeletal muscle

The origin of tubular aggregates in human myopathies

Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue

mRNA-based therapy proves superior to the standard of care for treating hereditary tyrosinemia 1 in a mouse model

The neuromuscular junction: Selective remodeling of synaptic regulators at the nerve/muscle interface

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