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Journal of Neuropathology & Experimental Neurology, Volume 65, Issue 8, August 2006, Pages 758–768, https://doi.org/10.1097/01.jnen.0000229987.17548.6e

Published: 01 August 2006

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Cardiac involvement in immune-mediated necrotizing myopathy: insights from CMR and somatostatin receptor PET/CT

Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles

Glycogenin is Dispensable for Glycogen Synthesis in Human Muscle, and Glycogenin Deficiency Causes Polyglucosan Storage

Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24

Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies Get access

A novel complex neurological phenotype due to a homozygous mutation in FDX2

New cardiac and skeletal protein aggregate myopathy associated with combined MuRF1 and MuRF3 mutations

New cardiac and skeletal protein aggregate myopathy associated with combined MuRF1 and MuRF3 mutations Get access

Subnormal levels of POLγA cause inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and progressive external ophthalmoplegia

Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain Get access

Normal apical myocardial perfusion in the rat model with Takotsubo syndrome: is subsequent microvascular dysfunction and hypoperfusion an epiphenomenon? Reply Get access

Contrast echocardiography reveals apparently normal coronary perfusion in a rat model of stress-induced (Takotsubo) cardiomyopathy Get access

Subnormal levels of POLγA cause inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and autosomal dominant progressive external ophthalmoplegia Get access

MYH2 mutation in recessive myopathy with external ophthalmoplegia linked to chromosome 17p13.1-p12 Get access

Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin Get access

Human disease caused by loss of fast IIa myosin heavy chain due to recessive MYH2 mutations Get access

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

Clinical manifestation and a new ISCU mutation in iron–sulphur cluster deficiency myopathy Get access

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

POLG1 Mutations Associated With Progressive Encephalopathy in Childhood Get access

Modify your search

Publication date

Cardiac involvement in immune-mediated necrotizing myopathy: insights from CMR and somatostatin receptor PET/CT Free

Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles Open Access

Glycogenin is Dispensable for Glycogen Synthesis in Human Muscle, and Glycogenin Deficiency Causes Polyglucosan Storage Open Access

Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24 Open Access

A novel complex neurological phenotype due to a homozygous mutation in FDX2 Free

New cardiac and skeletal protein aggregate myopathy associated with combined MuRF1 and MuRF3 mutations Free

Subnormal levels of POLγA cause inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and progressive external ophthalmoplegia Free

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy Open Access

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Cardiac involvement in immune-mediated necrotizing myopathy: insights from CMR and somatostatin receptor PET/CT

Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles

Glycogenin is Dispensable for Glycogen Synthesis in Human Muscle, and Glycogenin Deficiency Causes Polyglucosan Storage

Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24

A novel complex neurological phenotype due to a homozygous mutation in FDX2

New cardiac and skeletal protein aggregate myopathy associated with combined MuRF1 and MuRF3 mutations

Subnormal levels of POLγA cause inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and progressive external ophthalmoplegia

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy