Found: 87
Select item for more details and to access through your institution.
Unique exercise Lactate profile in Muscle phosphofructokinase deficiency (tarui disease); difference Compared with Mcardle disease.
- Published in:
- Frontiers in Neurology, 2016, p. 1, doi. 10.3389/fneur.2016.00082
- By:
- 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
- By:
- Publication type:
- Article
The First Case of Familial Amyloidotic Polyneuropathy (FAP Met30) in the Finnish Population.
- Published in:
- Human Heredity, 1992, v. 42, n. 3, p. 184, doi. 10.1159/000154064
- By:
- Publication type:
- Article
Recessive TTN truncating mutations define novel forms of core myopathy with heart disease.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 4, p. 980, doi. 10.1093/hmg/ddt494
- By:
- Publication type:
- Article
Removal of the calpain 3 protease reverses the myopathology in a mouse model for titinopathies.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 23, p. 4608, doi. 10.1093/hmg/ddq388
- By:
- Publication type:
- Article
Mannosidase I inhibition rescues the human α-sarcoglycan R77C recurrent mutation.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 9, p. 1214, doi. 10.1093/hmg/ddn029
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
Late onset spinal motor neuronopathy is caused by mutation in CHCHD10.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Late onset spinal motor neuronopathy is caused by mutation in CHCHD 10.
- Published in:
- Annals of Neurology, 2015, v. 77, n. 1, p. 163, doi. 10.1002/ana.24319
- By:
- Publication type:
- Article
Atypical phenotypes in titinopathies explained by second titin mutations.
- Published in:
- Annals of Neurology, 2014, v. 75, n. 2, p. 230, doi. 10.1002/ana.24102
- By:
- Publication type:
- Article
Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1.
- Published in:
- Annals of Neurology, 2013, v. 73, n. 4, p. 500, doi. 10.1002/ana.23831
- By:
- Publication type:
- Article
Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 4, p. 1409, doi. 10.3390/ijms21041409
- By:
- 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
- By:
- Publication type:
- Article
VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy.
- Published in:
- Acta Neuropathologica, 2013, v. 125, n. 3, p. 439, doi. 10.1007/s00401-012-1073-6
- By:
- Publication type:
- Article
Novel myosin heavy chain immunohistochemical double staining developed for the routine diagnostic separation of I, IIA and IIX fibers.
- Published in:
- Acta Neuropathologica, 2010, v. 119, n. 4, p. 495, doi. 10.1007/s00401-010-0643-8
- By:
- Publication type:
- Article
Differences in aberrant expression and splicing of sarcomeric proteins in the myotonic dystrophies DM1 and DM2.
- Published in:
- Acta Neuropathologica, 2010, v. 119, n. 4, p. 465, doi. 10.1007/s00401-010-0637-6
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Multiple founder effects in spinal and bulbar muscular atrophy (SBMA, Kennedy disease) around the world.
- Published in:
- European Journal of Human Genetics, 2001, v. 9, n. 6, p. 431, doi. 10.1038/sj.ejhg.5200656
- By:
- Publication type:
- Article
Muscular dystrophy with separate clinical phenotypes in a large family.
- Published in:
- Muscle & Nerve, 1991, v. 14, n. 11, p. 1050, doi. 10.1002/mus.880141103
- By:
- 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
- By:
- Publication type:
- Article
rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-04370-x
- By:
- Publication type:
- Article
La Finlande : un héritage génétique idéalement mis en valeur.
- Published in:
- Médecine Sciences, 2016, v. 32, p. 52, doi. 10.1051/medsci/201632s215
- By:
- Publication type:
- Article
A retrospective study of accuracy and usefulness of electrophysiological exercise tests.
- Published in:
- Journal of Neurology, 2024, v. 271, n. 4, p. 1802, doi. 10.1007/s00415-023-12110-5
- By:
- Publication type:
- Article
Comprehensive transcriptomic analysis shows disturbed calcium homeostasis and deregulation of T lymphocyte apoptosis in inclusion body myositis.
- Published in:
- Journal of Neurology, 2022, v. 269, n. 8, p. 4161, doi. 10.1007/s00415-022-11029-7
- By:
- Publication type:
- Article
HNRNPDL-related muscular dystrophy: expanding the clinical, morphological and MRI phenotypes.
- Published in:
- Journal of Neurology, 2019, v. 266, n. 10, p. 2524, doi. 10.1007/s00415-019-09437-3
- By:
- Publication type:
- Article
A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy.
- Published in:
- Journal of Neurology, 2019, v. 266, n. 7, p. 1649, doi. 10.1007/s00415-019-09307-y
- By:
- Publication type:
- Article
Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy.
- Published in:
- Journal of Neurology, 2019, v. 266, n. 2, p. 353, doi. 10.1007/s00415-018-9137-8
- By:
- Publication type:
- Article
Start codon mutation of GYG1 causing late-onset polyglucosan body myopathy with nemaline rods.
- Published in:
- 2016
- By:
- Publication type:
- Letter
Evolving neuromuscular phenotype in a patient with a heterozygous CHCHD10 p.G66V mutation.
- Published in:
- 2016
- By:
- Publication type:
- Letter
Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2.
- Published in:
- Journal of Neurology, 2012, v. 259, n. 10, p. 2090, doi. 10.1007/s00415-012-6462-1
- By:
- 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
- By:
- 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
Correction: Differential effects of mutations of POPDC proteins on heteromeric interaction and membrane trafficking.
- Published in:
- 2023
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy.
- Published in:
- PLoS ONE, 2017, v. 12, n. 10, p. 1, doi. 10.1371/journal.pone.0186642
- By:
- Publication type:
- Article