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Spectrum of metabolic myopathies

Biochimica et biophysica acta, 2015-04, Vol.1852 (4), p.615-621

Angelini, Corrado

2015

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A Historical Cohort Study on the Efficacy of Glucocorticoids and Riboflavin Among Patients with Late-onset Multiple Acyl-CoA Dehydrogenase Deficiency

Chinese medical journal, 2016-01, Vol.129 (2), p.142-146

2016

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Skeletal Muscle Magnetic Resonance Imaging of the Lower Limbs in Late-onset Lipid Storage Myopathy with Electron Transfer Flavoprotein Dehydrogenase Gene Mutations

Chinese medical journal, 2016-06, Vol.129 (12), p.1425-1431

2016

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Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene

Biochemical and biophysical research communications, 2013-01, Vol.430 (1), p.241-244

2013

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Neutral lipid storage disease with myopathy with a novel homozygous PNPLA2 variant

Clinical neurology and neurosurgery, 2023-05, Vol.228, p.107670, Article 107670

2023

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Subacute myopathy in a mature patient due to multiple acyl‐coenzyme a dehydrogenase deficiency

Muscle & nerve, 2011-03, Vol.43 (3), p.444-446

2011

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Distal lipid storage myopathy due to PNPLA2 mutation

Neuromuscular disorders : NMD, 2008-08, Vol.18 (8), p.671-674

2008

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New perspectives in late-onset multiple acyl-CoA dehydrogenase deficiency: Clinical and genetic findings

Journal of the neurological sciences, 2023-12, Vol.455, p.122809-122809, Article 122809

Missaglia, Sara

2023

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Diagnosis and management of metabolic myopathies

Muscle & nerve, 2023-09, Vol.68 (3), p.250-256

2023

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Clinical and Pathological Features of Lipid Storage Myopathy; A Retrospective Study of a Large Group from Iran

International clinical neuroscience journal, 2020-12, Vol.8 (1), p.26-29

2020

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ETF dehydrogenase advances in molecular genetics and impact on treatment

Critical reviews in biochemistry and molecular biology, 2021-07, Vol.56 (4), p.360-372

2021

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Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency

Orphanet journal of rare diseases, 2014-07, Vol.9 (1), p.117-117, Article 117

Gruenert, Sarah C

2014

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Successful plasmapheresis and immunoglobulin treatment for severe lipid storage myopathy: Doing the right thing for the wrong reason

Neuropathology and applied neurobiology, 2022-02, Vol.48 (1), p.e12731-n/a

2022

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Riboflavin-responsive lipid-storage myopathy in elderly patients

Journal of the neurological sciences, 2024-01, Vol.456, p.122808, Article 122808

2024

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Late-Onset Lipid Storage Myopathy with Fatal Hepatosteatosis

European journal of case reports in internal medicine, 2020-10, Vol.7 (12), p.001980-001980

2020

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A novel PNPLA2 mutation causes neutral lipid storage disease with myopathy (NLSDM) presenting muscular dystrophic features with lipid storage and rimmed vacuoles

Clinical neuropathology, 2010-11, Vol.29 (6), p.351-356

2010

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The Relationship of Cholangiocarcinoma with Human Immunodeficiency Virus Cholangiopathy and Cytomegalovirus Infection

European journal of case reports in internal medicine, 2020-10, Vol.7 (12), p.001981-001981

2020

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Lipophagy in nonliver tissues and some related diseases: Pathogenic and therapeutic implications

Journal of cellular physiology, 2019-06, Vol.234 (6), p.7938-7947

2019

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Multiple acyl-coenzyme A dehydrogenase deficiency shows a possible founder effect and is the most frequent cause of lipid storage myopathy in Iran

Journal of the neurological sciences, 2020-04, Vol.411, p.116707-116707, Article 116707

2020

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Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency

Pediatric neurology, 2019-10, Vol.99, p.69-75

2019

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Adult‐onset very‐long‐chain acyl‐CoA dehydrogenase deficiency (VLCADD)

European journal of neurology, 2020-11, Vol.27 (11), p.2257-2266

2020

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Riboflavin‐responsive multiple acyl‐CoA dehydrogenase deficiency: delayed hypersensitivity reaction and efficacy of low‐dose intermittent supplementation

European journal of neurology, 2017-07, Vol.24 (7), p.e41-e42

2017

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Investigation of adult‐onset multiple acyl‐CoA dehydrogenase deficiency associated with peripheral neuropathy

Neuropathology, 2020-12, Vol.40 (6), p.531-539

2020

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The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene

Journal of neurology, 2011-11, Vol.258 (11), p.1987-1997

2011

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Riboflavin-responsive lipid-storage myopathy caused by ETFDH gene mutations

Journal of neurology, neurosurgery and psychiatry, 2010-02, Vol.81 (2), p.231-236

2010

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Spectrum of metabolic myopathies

A Historical Cohort Study on the Efficacy of Glucocorticoids and Riboflavin Among Patients with Late-onset Multiple Acyl-CoA Dehydrogenase Deficiency

Skeletal Muscle Magnetic Resonance Imaging of the Lower Limbs in Late-onset Lipid Storage Myopathy with Electron Transfer Flavoprotein Dehydrogenase Gene Mutations

Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene

Neutral lipid storage disease with myopathy with a novel homozygous PNPLA2 variant

Subacute myopathy in a mature patient due to multiple acyl‐coenzyme a dehydrogenase deficiency

Distal lipid storage myopathy due to PNPLA2 mutation

New perspectives in late-onset multiple acyl-CoA dehydrogenase deficiency: Clinical and genetic findings

Diagnosis and management of metabolic myopathies

Clinical and Pathological Features of Lipid Storage Myopathy; A Retrospective Study of a Large Group from Iran

ETF dehydrogenase advances in molecular genetics and impact on treatment

Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency

Successful plasmapheresis and immunoglobulin treatment for severe lipid storage myopathy: Doing the right thing for the wrong reason

Riboflavin-responsive lipid-storage myopathy in elderly patients

Late-Onset Lipid Storage Myopathy with Fatal Hepatosteatosis

A novel PNPLA2 mutation causes neutral lipid storage disease with myopathy (NLSDM) presenting muscular dystrophic features with lipid storage and rimmed vacuoles

The Relationship of Cholangiocarcinoma with Human Immunodeficiency Virus Cholangiopathy and Cytomegalovirus Infection

Lipophagy in nonliver tissues and some related diseases: Pathogenic and therapeutic implications

Multiple acyl-coenzyme A dehydrogenase deficiency shows a possible founder effect and is the most frequent cause of lipid storage myopathy in Iran

Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency

Adult‐onset very‐long‐chain acyl‐CoA dehydrogenase deficiency (VLCADD)

Riboflavin‐responsive multiple acyl‐CoA dehydrogenase deficiency: delayed hypersensitivity reaction and efficacy of low‐dose intermittent supplementation

Investigation of adult‐onset multiple acyl‐CoA dehydrogenase deficiency associated with peripheral neuropathy

The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene

Riboflavin-responsive lipid-storage myopathy caused by ETFDH gene mutations

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