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Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 9, p. 3800, doi. 10.1093/brain/awad088
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- Publication type:
- Article
Adult-onset distal spinal muscular atrophy: a new phenotype associated with KIF5A mutations.
- Published in:
- 2019
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- Publication type:
- Letter
Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 12, p. 3160, doi. 10.1093/brain/awu272
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- Publication type:
- Article
Differences in Adipose Tissue and Lean Mass Distribution in Patients with Collagen VI Related Myopathies Are Associated with Disease Severity and Physical Ability.
- Published in:
- Frontiers in Aging Neuroscience, 2017, p. 1, doi. 10.3389/fnagi.2017.00268
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- Publication type:
- Article
Late-onset thymidine kinase 2 deficiency: a review of 18 cases.
- Published in:
- 2019
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- Publication type:
- journal article
Adult-onset nemaline myopathy due to a novel homozygous variant in the TNNT1 gene.
- Published in:
- 2022
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- Publication type:
- Letter
High prevalence of paraspinal muscle involvement in adults with McArdle disease.
- Published in:
- Muscle & Nerve, 2022, v. 65, n. 5, p. 568, doi. 10.1002/mus.27523
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- Publication type:
- Article
Muscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow-up.
- Published in:
- 2018
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- Publication type:
- journal article
Nemaline myopathy type 6: Clinical and myopathological features.
- Published in:
- Muscle & Nerve, 2010, v. 42, n. 6, p. 901, doi. 10.1002/mus.21788
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- Publication type:
- Article
Overexpression of semicarbazide-sensitive amine oxidase in human myopathies.
- Published in:
- Muscle & Nerve, 2004, v. 29, n. 2, p. 261, doi. 10.1002/mus.10550
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- Publication type:
- Article
Bcl-2 and bax immunohistochemistry in denervation-reinnervation and necrosis-regeneration of rat skeletal muscles.
- Published in:
- 2000
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- Publication type:
- journal article
Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins.
- Published in:
- BMC Neurology, 2013, v. 13, n. 1, p. 1, doi. 10.1186/1471-2377-13-29
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- Publication type:
- Article
Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins.
- Published in:
- 2013
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- Publication type:
- journal article
A series of West European patients with severe cardiac and skeletal myopathy associated with a de novo R406W mutation in desmin.
- Published in:
- Journal of Neurology, 2004, v. 251, n. 2, p. 143, doi. 10.1007/s00415-004-0289-3
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- Publication type:
- Article
Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy.
- Published in:
- Human Genetics, 2004, v. 114, n. 3, p. 306, doi. 10.1007/s00439-003-1057-7
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- Publication type:
- Article
Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-09111-2
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- Publication type:
- Article
In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 5, p. 656, doi. 10.1038/ejhg.2008.226
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- Publication type:
- Article
Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency.
- Published in:
- 2021
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- Publication type:
- journal article
Pathophysiology of protein aggregation and extended phenotyping in filaminopathy.
- Published in:
- Brain: A Journal of Neurology, 2012, v. 135, n. 9, p. 2642, doi. 10.1093/brain/aws200
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- Publication type:
- Article
Myotilinopathy: refining the clinical and myopathological phenotype.
- Published in:
- Brain: A Journal of Neurology, 2005, v. 128, n. 10, p. 2315, doi. 10.1093/brain/awh576
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- Publication type:
- Article
Expression of the intermediate filament protein synemin in myofibrillar myopathies and other muscle diseases.
- Published in:
- Acta Neuropathologica, 2003, v. 106, n. 1, p. 1, doi. 10.1007/s00401-003-0695-0
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- Publication type:
- Article
Motor neuron diseases caused by a novel VRK1 variant – A genotype/phenotype study.
- Published in:
- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 11, p. 2197, doi. 10.1002/acn3.50912
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- Publication type:
- Article
Glycogen branching enzyme deficiency in an infant with severe congenital hypotonia: an emerging diagnosis of muscle weakness in the perinatal period.
- Published in:
- 2009
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- Publication type:
- Letter
Extralysosomal Protein Degradation in Myofibrillar Myopathies.
- Published in:
- Brain Pathology, 2009, v. 19, n. 3, p. 507, doi. 10.1111/j.1750-3639.2009.00288.x
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- Publication type:
- Article
ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy.
- Published in:
- 2020
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- Publication type:
- journal article
Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP‑mediated disease reveals characteristic features useful for diagnosis.
- Published in:
- 2024
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- Publication type:
- Correction Notice
Distal hereditary motor neuronopathy as a new phenotype associated with variants in BAG3.
- Published in:
- Journal of Neurology, 2024, v. 271, n. 2, p. 986, doi. 10.1007/s00415-023-12039-9
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- Publication type:
- Article
Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis.
- Published in:
- Journal of Neurology, 2023, v. 270, n. 12, p. 5849, doi. 10.1007/s00415-023-11862-4
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- Publication type:
- Article
Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis.
- Published in:
- Journal of Neurology, 2022, v. 269, n. 7, p. 3550, doi. 10.1007/s00415-021-10957-0
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- Publication type:
- Article
New cardiac and skeletal protein aggregate myopathy associated with combined MuRF1 and MuRF3 mutations.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 13, p. 3638, doi. 10.1093/hmg/ddv108
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- Publication type:
- Article
SOD1 mutations in adult‐onset distal spinal muscular atrophy.
- Published in:
- European Journal of Neurology, 2020, v. 27, n. 11, p. e75, doi. 10.1111/ene.14426
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- Publication type:
- Article
Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure.
- Published in:
- Acta Neuropathologica, 2023, v. 145, n. 1, p. 127, doi. 10.1007/s00401-022-02510-8
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- Publication type:
- Article
Filamin C-related myopathies: pathology and mechanisms.
- Published in:
- Acta Neuropathologica, 2013, v. 125, n. 1, p. 33, doi. 10.1007/s00401-012-1054-9
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- Publication type:
- Article
Nintedanib Reduces Muscle Fibrosis and Improves Muscle Function of the Alpha-Sarcoglycan-Deficient Mice.
- Published in:
- Biomedicines, 2022, v. 10, n. 10, p. N.PAG, doi. 10.3390/biomedicines10102629
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- Publication type:
- Article
Mutation update for the ACTN2 gene.
- Published in:
- Human Mutation, 2022, v. 43, n. 12, p. 1745, doi. 10.1002/humu.24470
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- Publication type:
- Article
Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.
- Published in:
- Genes, 2020, v. 11, n. 5, p. 539, doi. 10.3390/genes11050539
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- Publication type:
- Article
Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy.
- Published in:
- Molecular Neurobiology, 2017, v. 54, n. 9, p. 7212, doi. 10.1007/s12035-016-0242-3
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- Publication type:
- Article