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Motor nerve conduction velocity and nerve fibre diameter in experimental protein deprivation.
- Published in:
- Acta Neuropathologica, 1980, v. 51, n. 3, p. 215, doi. 10.1007/BF00687388
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- Publication type:
- Article
Macrophages in peripheral nerves.
- Published in:
- Acta Neuropathologica, 1980, v. 49, n. 1, p. 43, doi. 10.1007/BF00692218
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- Publication type:
- Article
Barriers and transport properties of the perineurium.
- Published in:
- Acta Neuropathologica, 1979, v. 47, n. 2, p. 139, doi. 10.1007/BF00717037
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- Publication type:
- Article
Paranodal myelin retraction in protein deficient and normal rats.
- Published in:
- Acta Neuropathologica, 1977, v. 40, n. 3, p. 249, doi. 10.1007/BF00691962
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- Publication type:
- Article
The effect of undernutrition on spinal ganglion nerve cell size.
- Published in:
- Acta Neuropathologica, 1977, v. 39, n. 1, p. 75, doi. 10.1007/BF00690388
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- Publication type:
- Article
The localization of amyloid precursor protein to ependymal cilia in vertebrates and its role in ciliogenesis and brain development in zebrafish.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-98487-7
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- Publication type:
- Article
Duchenne muscular dystrophy and spinal muscular atrophy type I segregating in the same family.
- Published in:
- Clinical Genetics, 1994, v. 45, n. 2, p. 97, doi. 10.1111/j.1399-0004.1994.tb04002.x
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- Publication type:
- Article
Glycogenin is Dispensable for Glycogen Synthesis in Human Muscle, and Glycogenin Deficiency Causes Polyglucosan Storage.
- Published in:
- 2019
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- Publication type:
- journal article
Dominantly inherited myosin IIa myopathy caused by aberrant splicing of MYH2.
- Published in:
- 2022
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- Publication type:
- journal article
Histopathological changes in skeletal muscle associated with chronic ischaemia.
- Published in:
- APMIS, 2016, v. 124, n. 11, p. 935, doi. 10.1111/apm.12586
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- Publication type:
- Article
Defective regulation of contractile function in muscle fibres carrying an E41K β-tropomyosin mutation.
- Published in:
- Journal of Physiology, 2008, v. 586, n. 12, p. 2993, doi. 10.1113/jphysiol.2008.153650
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- Publication type:
- Article
Effects of a R133W β-tropomyosin mutation on regulation of muscle contraction in single human muscle fibres.
- Published in:
- Journal of Physiology, 2007, v. 581, n. 3, p. 1283, doi. 10.1113/jphysiol.2007.129759
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- Publication type:
- Article
Novel myopathy in a newborn with Shwachman-Diamond syndrome and review of neonatal presentation.
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- 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
Limited T-Cell Receptor V Gene Usage in Inclusion Body Myositis.
- Published in:
- Scandinavian Journal of Immunology, 1996, v. 43, n. 1, p. 109, doi. 10.1046/j.1365-3083.1996.d01-10.x
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- Publication type:
- Article
Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy.
- Published in:
- Nature Genetics, 2007, v. 39, n. 9, p. 1134, doi. 10.1038/ng2086
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- Publication type:
- Article
Impaired insulin secretion and β-cell loss in tissue-specific knockout mice with mitochondrial diabetes.
- Published in:
- Nature Genetics, 2000, v. 26, n. 3, p. 336, doi. 10.1038/81649
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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
Induced shift in myosin heavy chain expression in myosin myopathy by endurance training.
- Published in:
- Journal of Neurology, 2004, v. 251, n. 2, p. 179, doi. 10.1007/s00415-004-0295-5
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- Publication type:
- Article
55 GASTROINTESTINAL INVOLVEMENT IN TWO GIRLS WITH LARGE DELETIONS OF mtDNA.
- Published in:
- Journal of Pediatric Gastroenterology & Nutrition, 1994, v. 19, n. 3, p. 343
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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
Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy.
- Published in:
- 2018
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- Publication type:
- Letter
Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 6, p. 801, doi. 10.1038/ejhg.2013.250
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- Publication type:
- Article
B3GALNT2 is a gene associated with congenital muscular dystrophy with brain malformations.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 5, p. 707, doi. 10.1038/ejhg.2013.223
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- Publication type:
- Article
Reply to Brodehl et al.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 6, p. 590, doi. 10.1038/ejhg.2012.214
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- Publication type:
- Article
A novel mitochondrial tRNA Arg mutation resulting in an anticodon swap in a patient with mitochondrial encephalomyopathy.
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- European Journal of Human Genetics, 2013, v. 21, n. 5, p. 571, doi. 10.1038/ejhg.2012.153
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- Publication type:
- Article
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation.
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- European Journal of Human Genetics, 2012, v. 20, n. 9, p. 984, doi. 10.1038/ejhg.2012.39
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- Publication type:
- Article
Mutations and sequence variation in the human myosin heavy chain IIa gene (MYH2).
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 5, p. 617, doi. 10.1038/sj.ejhg.5201375
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- Publication type:
- Article
Low frequency of mtDNA point mutations in patients with PEO associated with POLG1 mutations.
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- European Journal of Human Genetics, 2005, v. 13, n. 4, p. 463, doi. 10.1038/sj.ejhg.5201341
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- Publication type:
- Article
Fatal Dilated Cardiomyopathy Associated with a Mitochondrial DNA Deletion.
- Published in:
- Cardiology, 2000, v. 94, n. 1, p. 68
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- Publication type:
- Article
Aberrant myonuclear domains and impaired myofiber contractility despite marked hypertrophy in MYMK-related, Carey-Fineman-Ziter Syndrome.
- Published in:
- Acta Neuropathologica Communications, 2024, v. 12, n. 1, p. 1, doi. 10.1186/s40478-024-01783-2
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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
Proteomic characterisation of polyglucosan bodies in skeletal muscle in RBCK1 deficiency.
- Published in:
- Neuropathology & Applied Neurobiology, 2022, v. 48, n. 1, p. 1, doi. 10.1111/nan.12761
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- Publication type:
- Article
Changes in specific gravity as a sign of disturbed brain maturation in protein-deprived rats.
- Published in:
- Acta Neurologica Scandinavica, 1986, v. 73, n. 1, p. 76, doi. 10.1111/j.1600-0404.1986.tb03244.x
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- Publication type:
- Article
Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 4, p. e270, doi. 10.1093/brain/awt305
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- Publication type:
- Article
MYH2 mutation in recessive myopathy with external ophthalmoplegia linked to chromosome 17p13.1-p12.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 7, p. e238, doi. 10.1093/brain/aws365
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- Publication type:
- Article
Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin.
- Published in:
- Brain: A Journal of Neurology, 2012, v. 135, n. 6, p. 1682, doi. 10.1093/brain/aws103
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- Publication type:
- Article
Human disease caused by loss of fast IIa myosin heavy chain due to recessive MYH2 mutations.
- Published in:
- Brain: A Journal of Neurology, 2010, v. 133, n. 5, p. 1451, doi. 10.1093/brain/awq083
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- Publication type:
- Article
Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy.
- Published in:
- Brain: A Journal of Neurology, 2009, v. 132, n. 11, p. 3165, doi. 10.1093/brain/awp221
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- Publication type:
- Article
Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency myopathy.
- Published in:
- Brain: A Journal of Neurology, 2009, v. 132, n. 8, p. 2170, doi. 10.1093/brain/awp152
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- Publication type:
- Article
ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.
- Published in:
- Brain: A Journal of Neurology, 2007, v. 130, n. 8, p. 2045, doi. 10.1093/brain/awm135
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- Publication type:
- Article
Spectrum of myopathic findings in 50 patients with the 3243A>G mutation in mitochondrial DNA.
- Published in:
- Brain: A Journal of Neurology, 2005, v. 128, n. 8, p. 1861
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- Publication type:
- Article
“Necklace” fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy.
- Published in:
- Acta Neuropathologica, 2009, v. 117, n. 3, p. 283, doi. 10.1007/s00401-008-0472-1
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- Publication type:
- Article
Alzheimer pathology associated with POLG1 mutation, multiple mtDNA deletions, and APOE4/4: premature ageing or just coincidence?
- Published in:
- Acta Neuropathologica, 2005, v. 110, n. 3, p. 315, doi. 10.1007/s00401-005-1047-z
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- Publication type:
- Article
Tissue distribution and disease manifestations of the tRNA A»G mitochondrial DNA mutation in a case of myoclonus epilepsy and ragged red fibres.
- Published in:
- Acta Neuropathologica, 1995, v. 90, n. 3, p. 328, doi. 10.1007/BF00296519
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- Publication type:
- Article
Cardiac involvement in immune-mediated necrotizing myopathy: insights from CMR and somatostatin receptor PET/CT.
- Published in:
- European Heart Journal - Cardiovascular Imaging, 2022, v. 23, n. 5, p. e237, doi. 10.1093/ehjci/jeab262
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- Publication type:
- Article
Abnormal expression of myosin heavy chains in early postnatal stages of spinal muscular atrophy type I at single fibre level.
- Published in:
- Acta Myologica, 2024, v. 43, n. 3, p. 89, doi. 10.36185/2532-1900-398
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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
Epidemiology, Survival, and Clinical Characteristics of Inclusion Body Myositis.
- Published in:
- Annals of Neurology, 2022, v. 92, n. 2, p. 201, doi. 10.1002/ana.26412
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- Publication type:
- Article