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Myopathology in times of modern imaging

Neuropathology and applied neurobiology, 2017-02, Vol.43 (1), p.24-43

Jungbluth, H.

2017

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The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations

Journal of neurology, 2019-04, Vol.266 (4), p.876-887

2019

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RYR1-related myopathies: a wide spectrum of phenotypes throughout life

European journal of neurology, 2015-07, Vol.22 (7), p.1094-1112

2015

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RYR1 mutations are a common cause of congenital myopathies with central nuclei

Annals of neurology, 2010-11, Vol.68 (5), p.717-726

2010

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The etiology of rhabdomyolysis: an interaction between genetic susceptibility and external triggers

European journal of neurology, 2021-02, Vol.28 (2), p.647-659

2021

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Myasthenia in pregnancy: best practice guidelines from a UK multispecialty working group

Journal of neurology, neurosurgery and psychiatry, 2014-05, Vol.85 (5), p.538-543

2014

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Muscle histology vs MRI in Duchenne muscular dystrophy

Neurology, 2011-01, Vol.76 (4), p.346-353

2011

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Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy

Journal of neurology, neurosurgery and psychiatry, 2013-06, Vol.84 (6), p.698-705

2013

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The use of rituximab in myasthenia gravis and Lambert–Eaton myasthenic syndrome

Journal of neurology, neurosurgery and psychiatry, 2011-06, Vol.82 (6), p.671-673

2011

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Congenital myopathies – Clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom

Neuromuscular disorders : NMD, 2013-03, Vol.23 (3), p.195-205

2013

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RYR1-related rhabdomyolysis: A common but probably underdiagnosed manifestation of skeletal muscle ryanodine receptor dysfunction

Revue neurologique, 2016-10, Vol.172 (10), p.546-558

2016

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Functional impairments, fatigue and quality of life in RYR1-related myopathies: A questionnaire study

Neuromuscular disorders : NMD, 2019-01, Vol.29 (1), p.30-38

2019

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Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis

Neuromuscular disorders : NMD, 2013-07, Vol.23 (7), p.540-548

2013

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Early-onset movement disorder and epileptic encephalopathy due to de novo dominant SCN8A mutation

Seizure (London, England), 2015-03, Vol.26, p.69-71

2015

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Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N‐related myopathies

Human mutation, 2019-07, Vol.40 (7), p.962-974, Article humu.23745

2019

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RYR1 variant c.38T>G, p.Leu13Arg causes hypersensitivity of the ryanodine receptor-1 and is pathogenic for malignant hyperthermia

British journal of anaesthesia : BJA, 2021-08, Vol.127 (2), p.e63-e65

2021

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Nano structure of NAFION: a SAXS study

Electrochimica acta, 2001-03, Vol.46 (10), p.1559-1563

2001

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HyperCKemia and rhabdomyolysis in the neuroleptic malignant and serotonin syndromes: A literature review

Neuromuscular disorders : NMD, 2020-12, Vol.30 (12), p.949-958

2020

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Dantrolene as a possible prophylactic treatment for RYR1-related rhabdomyolysis

European journal of neurology, 2016-08, Vol.23 (8), p.e56-e57

2016

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The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunity

Autophagy, 2018-01, Vol.14 (1), p.22-37

2018

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Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies

Brain (London, England : 1878), 2007-08, Vol.130 (8), p.2024-2036

2007

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Exertional Heat Stroke and Rhabdomyolysis: A Medical Record Review and Patient Perspective on Management and Long-Term Symptoms

Sports medicine - open, 2023-05, Vol.9 (1), p.33-17, Article 33

2023

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Developing a Penetrometer-Based Mapping System for Visualizing Silage Bulk Density from the Bunker Silo Face

Sensors (Basel, Switzerland), 2016-07, Vol.16 (7), p.1038-1038

2016

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An Assessment of Three Different In Situ Oxygen Sensors for Monitoring Silage Production and Storage

Sensors (Basel, Switzerland), 2016-01, Vol.16 (1), p.91

2016

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Myopathology in times of modern imaging

The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations

RYR1-related myopathies: a wide spectrum of phenotypes throughout life

RYR1 mutations are a common cause of congenital myopathies with central nuclei

The etiology of rhabdomyolysis: an interaction between genetic susceptibility and external triggers

Myasthenia in pregnancy: best practice guidelines from a UK multispecialty working group

Muscle histology vs MRI in Duchenne muscular dystrophy

Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy

The use of rituximab in myasthenia gravis and Lambert–Eaton myasthenic syndrome

Congenital myopathies – Clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom

RYR1-related rhabdomyolysis: A common but probably underdiagnosed manifestation of skeletal muscle ryanodine receptor dysfunction

Functional impairments, fatigue and quality of life in RYR1-related myopathies: A questionnaire study

Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis

Early-onset movement disorder and epileptic encephalopathy due to de novo dominant SCN8A mutation

Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N‐related myopathies

RYR1 variant c.38T>G, p.Leu13Arg causes hypersensitivity of the ryanodine receptor-1 and is pathogenic for malignant hyperthermia

Nano structure of NAFION: a SAXS study

HyperCKemia and rhabdomyolysis in the neuroleptic malignant and serotonin syndromes: A literature review

Dantrolene as a possible prophylactic treatment for RYR1-related rhabdomyolysis

259th ENMC international workshop: Anaesthesia and neuromuscular disorders 11 December, 2020 and 28–29 May, 2021

The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunity

Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies

Exertional Heat Stroke and Rhabdomyolysis: A Medical Record Review and Patient Perspective on Management and Long-Term Symptoms

Developing a Penetrometer-Based Mapping System for Visualizing Silage Bulk Density from the Bunker Silo Face

An Assessment of Three Different In Situ Oxygen Sensors for Monitoring Silage Production and Storage

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