# | Title | Journal | Year | Citations |
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1 | 229th ENMC international workshop: Limb girdle muscular dystrophies – Nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017 | Neuromuscular Disorders | 2018 | 285 |
2 | Comprehensive copy number and gene expression profiling of the 17q23 amplicon in human breast cancer | Proceedings of the National Academy of Sciences of the United States of America | 2001 | 215 |
3 | Increasing Role of Titin Mutations in Neuromuscular Disorders | Journal of Neuromuscular Diseases | 2016 | 128 |
4 | Mutations in the N-terminal Actin-Binding Domain of Filamin C Cause a Distal Myopathy | American Journal of Human Genetics | 2011 | 126 |
5 | Titin mutation segregates with hereditary myopathy with early respiratory failure | Brain | 2012 | 116 |
6 | Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy | Neurology | 2016 | 112 |
7 | Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5 | Neurology | 2012 | 101 |
8 | Congenital Titinopathy: Comprehensive characterization and pathogenic insights | Annals of Neurology | 2018 | 101 |
9 | Late onset spinal motor neuronopathy is caused by mutation in CHCHD10 | Annals of Neurology | 2015 | 92 |
10 | Targeted next-generation sequencing assay for detection of mutations in primary myopathies | Neuromuscular Disorders | 2016 | 90 |
11 | Proteomics profiling of urine reveals specific titin fragments as biomarkers of Duchenne muscular dystrophy | Neuromuscular Disorders | 2014 | 87 |
12 | Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/β-Cardiac Myosin (MYH7) Distal Myopathy | Human Mutation | 2014 | 82 |
13 | Atypical phenotypes in titinopathies explained by second titin mutations | Annals of Neurology | 2014 | 78 |
14 | SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles | Neurology | 2015 | 78 |
15 | Blood lipids and prostate cancer: a Mendelian randomization analysis | Cancer Medicine | 2016 | 73 |
16 | Replication of GWAS-identified systemic lupus erythematosus susceptibility genes affirms B-cell receptor pathway signalling and strengthens the role of IRF5 in disease susceptibility in a Northern European population | Rheumatology | 2012 | 68 |
17 | Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases | Neurobiology of Disease | 2018 | 52 |
18 | A new titinopathy | Neurology | 2015 | 46 |
19 | Genetic Association and Interaction Analysis of USF1 and APOA5 on Lipid Levels and Atherosclerosis | Arteriosclerosis, Thrombosis, and Vascular Biology | 2010 | 43 |
20 | CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy | Human Molecular Genetics | 2015 | 36 |
21 | Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease | Neuromuscular Disorders | 2015 | 36 |
22 | ‘Pathognomonic’ muscle imaging findings in DNAJB6 mutated LGMD1D | European Journal of Neurology | 2013 | 34 |
23 | Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations | European Journal of Human Genetics | 2014 | 34 |
24 | A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy | PLoS ONE | 2017 | 30 |
25 | Distinct Muscle Biopsy Findings in Genetically Defined Adult-Onset Motor Neuron Disorders | PLoS ONE | 2016 | 28 |
26 | Re-evaluation of the phenotype caused by the commonMATR3p.Ser85Cys mutation in a new family | Journal of Neurology, Neurosurgery and Psychiatry | 2016 | 28 |
27 | Hereditary myopathy with early respiratory failure (HMERF): Still rare, but common enough | Neuromuscular Disorders | 2018 | 27 |
28 | RAD51B in Familial Breast Cancer | PLoS ONE | 2016 | 27 |
29 | Association Analysis of Allelic Variants of USF1 in Coronary Atherosclerosis | Arteriosclerosis, Thrombosis, and Vascular Biology | 2008 | 26 |
30 | New family with HSPB 8-associated autosomal dominant rimmed vacuolar myopathy | Neurology: Genetics | 2019 | 26 |
31 | Late-onset lower motor neuronopathy | Neurology | 2011 | 25 |
32 | Screening for late-onset Pompe disease in Finland | Neuromuscular Disorders | 2014 | 24 |
33 | Myofibrillar and distal myopathies | Revue Neurologique | 2016 | 23 |
34 | Predominantly myalgic phenotype caused by the c.3466G>A p.A1156T mutation in SCN4A gene | Neurology | 2017 | 22 |
35 | Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies | Journal of Neuromuscular Diseases | 2020 | 22 |
36 | Novel valosin-containing protein mutations associated with multisystem proteinopathy | Neuromuscular Disorders | 2018 | 21 |
37 | Abnormal Splicing of NEDD4 in Myotonic Dystrophy Type 2 | American Journal of Pathology | 2014 | 18 |
38 | An unusual ryanodine receptor 1 (RYR1) phenotype | Neurology | 2019 | 17 |
39 | Gene Expression Profiling in Tibial Muscular Dystrophy Reveals Unfolded Protein Response and Altered Autophagy | PLoS ONE | 2014 | 17 |
40 | The Phenotype of Dysferlin-Deficient Mice Is Not Rescued by Adeno-Associated Virus–Mediated Transfer of Anoctamin 5 | Human Gene Therapy Clinical Development | 2013 | 16 |
41 | Oligogenic basis of sporadic ALS | Neurology: Genetics | 2019 | 16 |
42 | Novel mutation in TNPO3 causes congenital limb-girdle myopathy with slow progression | Neurology: Genetics | 2019 | 16 |
43 | Borderlines between Sarcopenia and Mild Late-Onset Muscle Disease | Frontiers in Aging Neuroscience | 2014 | 15 |
44 | Germline copy number variation analysis in Finnish families with hereditary prostate cancer | Prostate | 2016 | 15 |
45 | Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix‐Saguenay, ARSACS, in a Finnish family | Clinical Case Reports (discontinued) | 2016 | 14 |
46 | Adult onset limb-girdle muscular dystrophy — A recessive titinopathy masquerading as myositis | Journal of the Neurological Sciences | 2015 | 13 |
47 | Differential Isoform Expression and Selective Muscle Involvement in Muscular Dystrophies | American Journal of Pathology | 2015 | 13 |
48 | Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations | Neuromuscular Disorders | 2017 | 13 |
49 | No cardiomyopathy in X-linked myopathy with excessive autophagy | Neuromuscular Disorders | 2015 | 12 |
50 | SNP interaction pattern identifier (SIPI): an intensive search for SNP–SNP interaction patterns | Bioinformatics | 2017 | 12 |