Found: 28
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Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Cardiac pacing in 21 patients with Emery-Dreifuss muscular dystrophy: a single-centre study with a 39-year follow-up.
- Published in:
- Polish Heart Journal / Kardiologia Polska, 2016, v. 74, n. 6, p. 576, doi. 10.5603/KP.a2015.0218
- By:
- Publication type:
- Article
Low symptomatic malignant cardiac arrhythmia in a patient with lamin-related congenital muscular dystrophy.
- Published in:
- Polish Heart Journal / Kardiologia Polska, 2015, v. 73, n. 10, p. 942, doi. 10.5603/KP.2015.0187
- By:
- Publication type:
- Article
Emery-Dreifuss muscular dystrophy type 2 associated (?) with mild peripheral polyneuropathy.
- Published in:
- Folia Neuropathologica, 2015, v. 53, n. 3, p. 270, doi. 10.5114/fn.2015.54428
- By:
- Publication type:
- Article
Tissue inhibitors of matrix metalloproteinases in serum are cardiac biomarkers in Emery-Dreifuss muscular dystrophy.
- Published in:
- Polish Heart Journal / Kardiologia Polska, 2015, v. 73, n. 5, p. 360, doi. 10.5603/KP.a2014.0243
- By:
- Publication type:
- Article
Early-Onset Facioscapulohumeral Muscular Dystrophy Type 1 With Some Atypical Features.
- Published in:
- Journal of Child Neurology, 2015, v. 30, n. 5, p. 580, doi. 10.1177/0883073814528281
- By:
- Publication type:
- Article
The LITAF/ SIMPLE I92V sequence variant results in an earlier age of onset of CMT1A/HNPP diseases.
- Published in:
- Neurogenetics, 2015, v. 16, n. 1, p. 27, doi. 10.1007/s10048-014-0426-9
- By:
- Publication type:
- Article
Is mutation p.Arg168Gly in TPM3 gene responsible for Type 1 fiber hypoplasia and cap structure formation?
- Published in:
- Clinical Neuropathology, 2014, v. 33, n. 1, p. 61, doi. 10.5414/NP300657
- By:
- Publication type:
- Article
A method for determination of muscle fiber diameter using single fiber potential (SFP) analysis.
- Published in:
- Medical & Biological Engineering & Computing, 2012, v. 50, n. 12, p. 1309, doi. 10.1007/s11517-012-0965-x
- By:
- Publication type:
- Article
Simulation studies on the motor unit potentials with satellite components in amyotrophic lateral sclerosis and spinal muscle atrophy.
- Published in:
- Muscle & Nerve, 2012, v. 45, n. 4, p. 514, doi. 10.1002/mus.22344
- By:
- Publication type:
- Article
Motoneuron afterhyperpolarisation duration in amyotrophic lateral sclerosis.
- Published in:
- Journal of Physiology, 2011, v. 589, n. 11, p. 2745, doi. 10.1113/jphysiol.2011.204891
- By:
- Publication type:
- Article
A new missense GDAP1 mutation disturbing targeting to the mitochondrial membrane causes a severe form of AR-CMT2C disease.
- Published in:
- Neurogenetics, 2011, v. 12, n. 2, p. 145, doi. 10.1007/s10048-011-0276-7
- By:
- Publication type:
- Article
L239F founder mutation in GDAP1 is associated with a mild Charcot–Marie–Tooth type 4C4 (CMT4C4) phenotype.
- Published in:
- Neurogenetics, 2010, v. 11, n. 3, p. 357, doi. 10.1007/s10048-010-0237-6
- By:
- Publication type:
- Article
Incidence of Spinal Muscular Atrophy in Poland – More Frequent than Predicted?
- Published in:
- Neuroepidemiology, 2010, v. 34, n. 3, p. 152, doi. 10.1159/000275492
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- Publication type:
- Article
Unaffected patients with a homozygous absence of the SMN1 gene.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 8, p. 930, doi. 10.1038/ejhg.2008.41
- By:
- Publication type:
- Article
Analysis of double discharges in amyotrophic lateral sclerosis.
- Published in:
- Muscle & Nerve, 2008, v. 38, n. 1, p. 845, doi. 10.1002/mus.20997
- By:
- Publication type:
- Article
Progeria: A laminopathy of special interest.
- Published in:
- 2007
- By:
- Publication type:
- Book Review
Is a novel I214M substitution in the NEFL gene a cause of Charcot-Marie-Tooth disease? Functional analysis using cell culture models.
- Published in:
- Journal of the Peripheral Nervous System, 2006, v. 11, n. 3, p. 225, doi. 10.1111/j.1529-8027.2006.00092.x
- By:
- Publication type:
- Article
The inner nuclear membrane protein Emerin regulates β-catenin activity by restricting its accumulation in the nucleus.
- Published in:
- EMBO Journal, 2006, v. 25, n. 14, p. 3275, doi. 10.1038/sj.emboj.7601230
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- Publication type:
- Article
SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation.
- Published in:
- Human Mutation, 2005, v. 25, n. 4, p. 372, doi. 10.1002/humu.20153
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- Publication type:
- Article
The Predictive Value of Achieved Motor Milestones Assessed in 441 Patients with Infantile Spinal Muscular Atrophy Types II and III.
- Published in:
- European Neurology, 2001, v. 45, n. 3, p. 174, doi. 10.1159/000052118
- By:
- Publication type:
- Article
A novel connexin 32 missense mutation (E208G) causing Charcot-Marie-Tooth disease.
- Published in:
- Human Mutation, 2001, v. 17, n. 2, p. 157, doi. 10.1002/1098-1004(200102)17:2<157::AID-HUMU22>3.0.CO;2-E
- By:
- Publication type:
- Article
Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.
- Published in:
- Nature Genetics, 2000, v. 25, n. 1, p. 17, doi. 10.1038/75542
- By:
- Publication type:
- Article
On the classification of nonsimple motor unit potentials.
- Published in:
- 1999
- By:
- Publication type:
- letter
A dystrophin missense mutation showing persistence of dystrophin and dystrophin-associated proteins yet a severe phenotype.
- Published in:
- Annals of Neurology, 1998, v. 44, n. 6, p. 971, doi. 10.1002/ana.410440619
- By:
- Publication type:
- Article
Shape irregularity of motor unit potentials in some neuromuscular disorders.
- Published in:
- 1998
- By:
- Publication type:
- journal article
Analysis of Creatine Kinase Activity in 504 Patients with Proximal Spinal Muscular Atrophy Types I–III from the Point of View of Progression and Severity.
- Published in:
- European Neurology, 1998, v. 39, n. 3, p. 154, doi. 10.1159/000007926
- By:
- Publication type:
- Article
Electromyographic findings in different forms of infantile and juvenile proximal spinal muscular atrophy.
- Published in:
- Muscle & Nerve, 1986, v. 9, n. 1, p. 37, doi. 10.1002/mus.880090106
- By:
- Publication type:
- Article