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Protein‐extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation.
- Published in:
- Annals of Clinical & Translational Neurology, 2024, v. 11, n. 9, p. 2392, doi. 10.1002/acn3.52154
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- Publication type:
- Article
Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 4, p. 1409, doi. 10.3390/ijms21041409
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- Publication type:
- Article
Lamin A/C mutation affecting primarily the right side of the heart.
- Published in:
- Cardiogenetics, 2013, v. 3, n. 1, p. 1, doi. 10.4081/cardiogenetics.2013.e1
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- Publication type:
- Article
Borderlines between sarcopenia and mild late-onset muscle disease.
- Published in:
- Frontiers in Aging Neuroscience, 2014, v. 6, p. 1, doi. 10.3389/fnagi.2014.00267
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- Publication type:
- Article
La Finlande : un héritage génétique idéalement mis en valeur.
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- Médecine Sciences, 2016, v. 32, p. 52, doi. 10.1051/medsci/201632s215
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- Publication type:
- Article
The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone.
- Published in:
- Nature Genetics, 2005, v. 37, n. 12, p. 1309, doi. 10.1038/ng1677
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- Publication type:
- Article
Diagnostic Clinical, Electrodiagnostic and Muscle Pathology Features of Spinal and Bulbar Muscular Atrophy.
- Published in:
- Journal of Molecular Neuroscience, 2016, v. 58, n. 3, p. 330, doi. 10.1007/s12031-015-0684-5
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- Publication type:
- Article
Towards a European Registry and Biorepository for Patients with Spinal and Bulbar Muscular Atrophy.
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- Journal of Molecular Neuroscience, 2016, v. 58, n. 3, p. 394, doi. 10.1007/s12031-015-0704-5
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- Publication type:
- Article
Diagnostically important muscle pathology in DNAJB6 mutated LGMD1D.
- Published in:
- Acta Neuropathologica Communications, 2016, v. 4, p. 1, doi. 10.1186/s40478-016-0276-9
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- Publication type:
- Article
The complexity of titin splicing pattern in human adult skeletal muscles.
- Published in:
- Skeletal Muscle, 2018, v. 8, p. 1, doi. 10.1186/s13395-018-0156-z
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- Publication type:
- Article
Gene Expression Profiling in Tibial Muscular Dystrophy Reveals Unfolded Protein Response and Altered Autophagy.
- Published in:
- PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0090819
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- Publication type:
- Article
ZNF9 Activation of IRES-Mediated Translation of the Human ODC mRNA Is Decreased in Myotonic Dystrophy Type 2.
- Published in:
- PLoS ONE, 2010, v. 5, n. 2, p. 1, doi. 10.1371/journal.pone.0009301
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- Publication type:
- Article
Distal Myopathies.
- Published in:
- Current Neurology & Neuroscience Reports, 2014, v. 14, n. 3, p. 1, doi. 10.1007/s11910-013-0434-4
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- Publication type:
- Article
Valosin-containing protein-related myopathy and Meige syndrome: Just a coincidence or not?
- Published in:
- 2019
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- Publication type:
- journal article
Pain in SCN4A Mutated P.A1156T muscle sodium channelopathy-a postal survey.
- Published in:
- 2018
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- Publication type:
- journal article
Muscle magnetic resonance imaging abnormalities in X-linked myopathy with excessive autophagy.
- Published in:
- 2015
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- Publication type:
- journal article
Expression of multiple nebulin isoforms in human skeletal muscle and brain.
- Published in:
- Muscle & Nerve, 2012, v. 46, n. 5, p. 730, doi. 10.1002/mus.23380
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- Publication type:
- Article
Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia.
- Published in:
- Muscle & Nerve, 2012, v. 46, n. 2, p. 275, doi. 10.1002/mus.23349
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- Publication type:
- Article
Pain in patients with myotonic dystrophy type 2: A postal survey in finland.
- Published in:
- Muscle & Nerve, 2012, v. 45, n. 1, p. 70, doi. 10.1002/mus.22249
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- Publication type:
- Article
Altered MEF2 isoforms in myotonic dystrophy and other neuromuscular disorders.
- Published in:
- Muscle & Nerve, 2010, v. 42, n. 6, p. 856, doi. 10.1002/mus.21789
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- Publication type:
- Article
The first Italian family with tibial muscular dystrophy caused by a novel titin mutation.
- Published in:
- Journal of Neurology, 2010, v. 257, n. 4, p. 575, doi. 10.1007/s00415-009-5372-3
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- Publication type:
- Article
Erratum to: The first Italian family with tibial muscular dystrophy caused by a novel titin mutation.
- Published in:
- 2010
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- Publication type:
- Correction Notice
High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany.
- Published in:
- Journal of Neurology, 2008, v. 255, n. 11, p. 1731, doi. 10.1007/s00415-008-0010-z
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- Publication type:
- Article
Myopathy is a prominent feature in Marinesco-Sjögren syndrome.
- Published in:
- Journal of Neurology, 2006, v. 253, n. 3, p. 301, doi. 10.1007/s00415-005-0983-9
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- Publication type:
- Article
A quantitative method for the assessment of intraepidermal nerve fibers in small–fiber neuropathy.
- Published in:
- Journal of Neurology, 2005, v. 252, n. 7, p. 789, doi. 10.1007/s00415-005-0743-x
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- Publication type:
- Article
The effect of number of loci on geographical structuring and forensic applicability of Y-STR data in Finland.
- Published in:
- International Journal of Legal Medicine, 2008, v. 122, n. 6, p. 449, doi. 10.1007/s00414-008-0250-6
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- Publication type:
- Article
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
Autosomal dominant late-onset spinal motor neuronopathy is linked to a new locus on chromosome 22q11.2-q13.2.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 11, p. 1193, doi. 10.1038/ejhg.2012.76
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- Publication type:
- Article
Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 7, p. 776, doi. 10.1038/ejhg.2011.23
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- Publication type:
- Article
Clinical utility gene card for: Laing distal myopathy.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 3, p. 1, doi. 10.1038/ejhg.2010.190
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- Publication type:
- Article
Multiple founder effects in spinal and bulbar muscular atrophy (SBMA, Kennedy disease) around the world.
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- European Journal of Human Genetics, 2001, v. 9, n. 6, p. 431, doi. 10.1038/sj.ejhg.5200656
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- Publication type:
- Article
Correction: Differential effects of mutations of POPDC proteins on heteromeric interaction and membrane trafficking.
- Published in:
- 2023
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- Publication type:
- Correction Notice
Differential effects of mutations of POPDC proteins on heteromeric interaction and membrane trafficking.
- Published in:
- Acta Neuropathologica Communications, 2023, v. 11, n. 1, p. 1, doi. 10.1186/s40478-022-01501-w
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- Publication type:
- Article
Markesbery Disease: Autosomal Dominant Late-Onset Distal Myopathy: From Phenotype to ZASP Gene Identification.
- Published in:
- NeuroMolecular Medicine, 2011, v. 13, n. 1, p. 27, doi. 10.1007/s12017-010-8134-6
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- Publication type:
- Article
Use of animal models to understand titin physiology and pathology.
- Published in:
- Journal of Cellular & Molecular Medicine, 2022, v. 26, n. 20, p. 5103, doi. 10.1111/jcmm.17533
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- Publication type:
- Article
Reply: 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. 6, p. e279, doi. 10.1093/brain/awu033
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- Publication type:
- Article
Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin.
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- Brain: A Journal of Neurology, 2012, v. 135, n. 6, p. 1682, doi. 10.1093/brain/aws103
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- Publication type:
- Article
Titin mutation segregates with hereditary myopathy with early respiratory failure.
- Published in:
- Brain: A Journal of Neurology, 2012, v. 135, n. 6, p. 1695, doi. 10.1093/brain/aws102
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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
Distal myopathy caused by homozygous missense mutations in the nebulin gene.
- Published in:
- Brain: A Journal of Neurology, 2007, v. 130, n. 6, p. 1465, doi. 10.1093/brain/awm094
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- Publication type:
- Article
Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene.
- Published in:
- Brain: A Journal of Neurology, 2006, v. 129, n. 7, p. 1674, doi. 10.1093/brain/awl088
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- Publication type:
- Article
Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study.
- Published in:
- Acta Neuropathologica, 2009, v. 117, n. 3, p. 293, doi. 10.1007/s00401-008-0479-7
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- Publication type:
- Article
Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS, in a Finnish family.
- Published in:
- Clinical Case Reports, 2016, v. 4, n. 12, p. 1151, doi. 10.1002/ccr3.722
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- Publication type:
- Article
A comprehensive study of skeletal muscle imaging in FHL1‐related reducing body myopathy.
- Published in:
- Annals of Clinical & Translational Neurology, 2023, v. 10, n. 8, p. 1442, doi. 10.1002/acn3.51834
- By:
- Publication type:
- Article
Adult‐onset dominant muscular dystrophy in Greek families caused by Annexin A11.
- Published in:
- Annals of Clinical & Translational Neurology, 2022, v. 9, n. 10, p. 1660, doi. 10.1002/acn3.51665
- By:
- Publication type:
- Article
Extension of the DNAJB2a isoform in a dominant neuromyopathy family.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 21, p. 3029, doi. 10.1093/hmg/ddad058
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- Publication type:
- Article
Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy.
- Published in:
- Nature Communications, 2016, v. 7, n. 4, p. 11067, doi. 10.1038/ncomms11067
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- Publication type:
- Article
Panorama of the distal myopathies.
- Published in:
- Acta Myologica, 2020, v. 39, n. 4, p. 245, doi. 10.36185/2532-1900-028
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- Publication type:
- Article
Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Reply: To PMID 25428574.
- Published in:
- 2015
- By:
- Publication type:
- commentary