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Commentary from the Editor

Neuromuscular disorders : NMD, 2024-01, Vol.34, p.123-125

Oldfors, Anders

2024

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Commentary from the Editor

Neuromuscular disorders : NMD, 2023-01, Vol.33 (1), p.1-4

Oldfors, Anders

2023

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Commentary from the Editor

Neuromuscular disorders : NMD, 2022-01, Vol.32 (1), p.1-4

Oldfors, Anders

2022

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Muscle disorders of glycogen metabolism associated with GYG1 and RBCK1 deficiency

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S185-S185

Oldfors, A

2015

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A novel homozygous pathogenic missense variant in COX6B1 : Further delineation of the phenotype

American journal of medical genetics. Part A, 2024-06, Vol.194 (10), p.e63783-e63783

2024

Volltextzugriff (PDF)

Polyglucosan myopathy and functional characterization of a novel GYG1 mutation

Acta neurologica Scandinavica, 2018-03, Vol.137 (3), p.308-315

2018

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New mutations identified in a case of Glycogenin-1 deficiency

Molecular genetics and metabolism reports, 2024-03, Vol.38, p.101046-101046, Article 101046

2024

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Distinctive cerebral neuropathology in an adult case of sensory ataxic neuropathy with dysarthria and ophthalmoplegia (SANDO) syndrome

Neuropathology and applied neurobiology, 2018-10, Vol.44 (6), p.639-642

2018

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PII: S0960-8966(20)30619-2

Neuromuscular disorders : NMD, 2020-10, Vol.30 (10), p.795-795

Oldfors, Anders

2020

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Benign mitochondrial myopathy with exercise intolerance in a large multigeneration family due to a homoplasmic m.3250T>C mutation in MTTL1

European journal of neurology, 2017-04, Vol.24 (4), p.587-593

2017

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Muscle Biopsy: A Practical Approach

5, 2020

Volltextzugriff (PDF)

A novel mutation in EPG5 cause Vici syndrome with vacuolar myopathy

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S192-S193

2016

Volltextzugriff (PDF)

Myopathology in the times of modern genetics

Neuropathology and applied neurobiology, 2017-02, Vol.43 (1), p.44-61

2017

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Myopathies associated with β-tropomyosin mutations

Neuromuscular disorders : NMD, 2012-11, Vol.22 (11), p.923-933

2012

Volltextzugriff (PDF)

ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency

Brain (London, England : 1878), 2007-08, Vol.130 (8), p.2045-2054

2007

Volltextzugriff (PDF)

Hereditary myopathy with early respiratory failure: occurrence in various populations

Journal of neurology, neurosurgery and psychiatry, 2014-03, Vol.85 (3), p.345-353

2014

Volltextzugriff (PDF)

Clinical Diagnosis and Subtyping of Cardiac Amyloidosis by Mass Spectrometry

The Journal of heart and lung transplantation, 2020-04, Vol.39 (4), p.S234-S235

2020

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Mitochondrial abnormalities in inclusion-body myositis

Neurology, 2006-01, Vol.66 (2 Suppl 1), p.S49

2006

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Episodes of exercise-induced dark urine and myalgia in LGMD 2I

Acta neurologica Scandinavica, 2012-04, Vol.125 (4), p.285-287

2012

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Search for Pompe disease among patients with undetermined myopathies

Acta neurologica Scandinavica, 2016-02, Vol.133 (2), p.131-135

2016

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RBCK1 mid-domain mutations with a phenotype spanning the entire spectrum of the condition: A rare polyglucosan storage disorder causing multisystem autoinflammation, immunodeficiency, cardiac and skeletal myopathy

Neuromuscular disorders : NMD, 2017-03, Vol.27, p.S43-S43

2017

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Novel myopathy in a newborn with severe thoracic dysplasia caused by mutations in the SBDS gene: Further delineation of the phenotypic spectrum of Shwachman–Diamond syndrome

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S276-S276

2015

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Prognosis and prognostic factors in sporadic inclusion body myositis

Acta neurologica Scandinavica, 2012-05, Vol.125 (5), p.353-358

2012

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Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

Brain (London, England : 1878), 2009-11, Vol.132 (11), p.3165-3174

2009

Volltextzugriff (PDF)

Mitochondrial pathology in inclusion body myositis

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S238-S239

2015

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Commentary from the Editor

Commentary from the Editor

Commentary from the Editor

Muscle disorders of glycogen metabolism associated with GYG1 and RBCK1 deficiency

A novel homozygous pathogenic missense variant in COX6B1 : Further delineation of the phenotype

Polyglucosan myopathy and functional characterization of a novel GYG1 mutation

New mutations identified in a case of Glycogenin-1 deficiency

Distinctive cerebral neuropathology in an adult case of sensory ataxic neuropathy with dysarthria and ophthalmoplegia (SANDO) syndrome

PII: S0960-8966(20)30619-2

Benign mitochondrial myopathy with exercise intolerance in a large multigeneration family due to a homoplasmic m.3250T>C mutation in MTTL1

Muscle Biopsy: A Practical Approach

A novel mutation in EPG5 cause Vici syndrome with vacuolar myopathy

Myopathology in the times of modern genetics

Myopathies associated with β-tropomyosin mutations

ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency

Hereditary myopathy with early respiratory failure: occurrence in various populations

Clinical Diagnosis and Subtyping of Cardiac Amyloidosis by Mass Spectrometry

Mitochondrial abnormalities in inclusion-body myositis

Episodes of exercise-induced dark urine and myalgia in LGMD 2I

Search for Pompe disease among patients with undetermined myopathies

RBCK1 mid-domain mutations with a phenotype spanning the entire spectrum of the condition: A rare polyglucosan storage disorder causing multisystem autoinflammation, immunodeficiency, cardiac and skeletal myopathy

Novel myopathy in a newborn with severe thoracic dysplasia caused by mutations in the SBDS gene: Further delineation of the phenotypic spectrum of Shwachman–Diamond syndrome

Prognosis and prognostic factors in sporadic inclusion body myositis

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

Mitochondrial pathology in inclusion body myositis

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