Found: 23
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Glycogenin is Dispensable for Glycogen Synthesis in Human Muscle, and Glycogenin Deficiency Causes Polyglucosan Storage.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles.
- Published in:
- 2020
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- Publication type:
- journal article
A new muscle glycogen storage disease associated with glycogenin-1 deficiency.
- Published in:
- Annals of Neurology, 2014, v. 76, n. 6, p. 891, doi. 10.1002/ana.24284
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- Publication type:
- Article
An AARS variant as the likely cause of Swedish type hereditary diffuse leukoencephalopathy with spheroids.
- Published in:
- Acta Neuropathologica Communications, 2019, v. 7, n. 1, p. N.PAG, doi. 10.1186/s40478-019-0843-y
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- Publication type:
- Article
Dominantly inherited myosin IIa myopathy caused by aberrant splicing of MYH2.
- Published in:
- 2022
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- Publication type:
- journal article
Inclusion body myositis with early onset: a population-based study.
- Published in:
- Journal of Neurology, 2023, v. 270, n. 11, p. 5483, doi. 10.1007/s00415-023-11878-w
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- Publication type:
- Article
Start codon mutation of GYG1 causing late-onset polyglucosan body myopathy with nemaline rods.
- Published in:
- 2016
- By:
- Publication type:
- Letter
A novel MYH2 mutation in family members presenting with congenital myopathy, ophthalmoplegia and facial weakness.
- Published in:
- Journal of Neurology, 2016, v. 263, n. 7, p. 1427, doi. 10.1007/s00415-016-8154-8
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- Publication type:
- Article
Proteomic profiling of polyglucosan bodies associated with glycogenin‐1 deficiency in skeletal muscle.
- Published in:
- Neuropathology & Applied Neurobiology, 2024, v. 50, n. 3, p. 1, doi. 10.1111/nan.12995
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- Publication type:
- Article
Respiratory chain dysfunction in perifascicular muscle fibres in patients with dermatomyositis is associated with mitochondrial DNA depletion.
- Published in:
- Neuropathology & Applied Neurobiology, 2022, v. 48, n. 7, p. 1, doi. 10.1111/nan.12841
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- Publication type:
- Article
Progressive external ophthalmoplegia associated with novel MT‐TN mutations.
- Published in:
- Acta Neurologica Scandinavica, 2021, v. 143, n. 1, p. 103, doi. 10.1111/ane.13339
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- Publication type:
- Article
Thermo‐sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 819, doi. 10.1002/jimd.12503
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- Publication type:
- Article
RBCK1‐related disease: A rare multisystem disorder with polyglucosan storage, auto‐inflammation, recurrent infections, skeletal, and cardiac myopathy—Four additional patients and a review of the current literature.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 5, p. 1002, doi. 10.1002/jimd.12234
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- Publication type:
- Article
TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 5, p. 898, doi. 10.1002/jimd.12149
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- Publication type:
- Article
Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature.
- Published in:
- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 1, p. 139, doi. 10.1007/s10545-016-9978-1
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- Publication type:
- Article
Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment.
- Published in:
- Acta Neuropathologica Communications, 2019, v. 7, n. 1, p. N.PAG, doi. 10.1186/s40478-019-0815-2
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- Publication type:
- Article
Accurate mapping of mitochondrial DNA deletions and duplications using deep sequencing.
- Published in:
- PLoS Genetics, 2020, v. 16, n. 12, p. 1, doi. 10.1371/journal.pgen.1009242
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- Publication type:
- Article
The Swedish COG6‐CDG experience and a comprehensive literature review.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 1, p. 79, doi. 10.1002/jmd2.12338
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- Publication type:
- Article
Four Swedish cases of CSF1R‐related leukoencephalopathy: Visualization of clinical phenotypes.
- Published in:
- Acta Neurologica Scandinavica, 2022, v. 145, n. 5, p. 599, doi. 10.1111/ane.13589
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- Publication type:
- Article
Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 11, p. 1919, doi. 10.1093/hmg/ddz032
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- Publication type:
- Article
Novel myopathy in a newborn with Shwachman-Diamond syndrome and review of neonatal presentation.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1155, doi. 10.1002/ajmg.a.37593
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- Publication type:
- Article
Expression pattern of mitochondrial respiratory chain enzymes in skeletal muscle of patients with mitochondrial myopathy associated with the homoplasmic m.14674T>C variant.
- Published in:
- Brain Pathology, 2022, v. 32, n. 4, p. 1, doi. 10.1111/bpa.13038
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- Publication type:
- Article
Mitochondrial DNA variants in inclusion body myositis characterized by deep sequencing.
- Published in:
- Brain Pathology, 2021, v. 31, n. 3, p. 1, doi. 10.1111/bpa.12931
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- Publication type:
- Article