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Top Articles

#TitleJournalYearCitations
1229th ENMC international workshop: Limb girdle muscular dystrophies – Nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017Neuromuscular Disorders2018285
2Comprehensive copy number and gene expression profiling of the 17q23 amplicon in human breast cancerProceedings of the National Academy of Sciences of the United States of America2001215
3Increasing Role of Titin Mutations in Neuromuscular DisordersJournal of Neuromuscular Diseases2016128
4Mutations in the N-terminal Actin-Binding Domain of Filamin C Cause a Distal MyopathyAmerican Journal of Human Genetics2011126
5Titin mutation segregates with hereditary myopathy with early respiratory failureBrain2012116
6Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathyNeurology2016112
7Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5Neurology2012101
8Congenital Titinopathy: Comprehensive characterization and pathogenic insightsAnnals of Neurology2018101
9Late onset spinal motor neuronopathy is caused by mutation in CHCHD10Annals of Neurology201592
10Targeted next-generation sequencing assay for detection of mutations in primary myopathiesNeuromuscular Disorders201690
11Proteomics profiling of urine reveals specific titin fragments as biomarkers of Duchenne muscular dystrophyNeuromuscular Disorders201487
12Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/β-Cardiac Myosin (MYH7) Distal MyopathyHuman Mutation201482
13Atypical phenotypes in titinopathies explained by second titin mutationsAnnals of Neurology201478
14SQSTM1 splice site mutation in distal myopathy with rimmed vacuolesNeurology201578
15Blood lipids and prostate cancer: a Mendelian randomization analysisCancer Medicine201673
16Replication 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 populationRheumatology201268
17Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseasesNeurobiology of Disease201852
18A new titinopathyNeurology201546
19Genetic Association and Interaction Analysis of USF1 and APOA5 on Lipid Levels and AtherosclerosisArteriosclerosis, Thrombosis, and Vascular Biology201043
20CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathyHuman Molecular Genetics201536
21Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D diseaseNeuromuscular Disorders201536
22‘Pathognomonic’ muscle imaging findings in DNAJB6 mutated LGMD1DEuropean Journal of Neurology201334
23Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutationsEuropean Journal of Human Genetics201434
24A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophyPLoS ONE201730
25Distinct Muscle Biopsy Findings in Genetically Defined Adult-Onset Motor Neuron DisordersPLoS ONE201628
26Re-evaluation of the phenotype caused by the commonMATR3p.Ser85Cys mutation in a new familyJournal of Neurology, Neurosurgery and Psychiatry201628
27Hereditary myopathy with early respiratory failure (HMERF): Still rare, but common enoughNeuromuscular Disorders201827
28RAD51B in Familial Breast CancerPLoS ONE201627
29Association Analysis of Allelic Variants of USF1 in Coronary AtherosclerosisArteriosclerosis, Thrombosis, and Vascular Biology200826
30New family with HSPB 8-associated autosomal dominant rimmed vacuolar myopathyNeurology: Genetics201926
31Late-onset lower motor neuronopathyNeurology201125
32Screening for late-onset Pompe disease in FinlandNeuromuscular Disorders201424
33Myofibrillar and distal myopathiesRevue Neurologique201623
34Predominantly myalgic phenotype caused by the c.3466G>A p.A1156T mutation in SCN4A geneNeurology201722
35Improved Criteria for the Classification of Titin Variants in Inherited Skeletal MyopathiesJournal of Neuromuscular Diseases202022
36Novel valosin-containing protein mutations associated with multisystem proteinopathyNeuromuscular Disorders201821
37Abnormal Splicing of NEDD4 in Myotonic Dystrophy Type 2American Journal of Pathology201418
38An unusual ryanodine receptor 1 (RYR1) phenotypeNeurology201917
39Gene Expression Profiling in Tibial Muscular Dystrophy Reveals Unfolded Protein Response and Altered AutophagyPLoS ONE201417
40The Phenotype of Dysferlin-Deficient Mice Is Not Rescued by Adeno-Associated Virus–Mediated Transfer of Anoctamin 5Human Gene Therapy Clinical Development201316
41Oligogenic basis of sporadic ALSNeurology: Genetics201916
42Novel mutation in TNPO3 causes congenital limb-girdle myopathy with slow progressionNeurology: Genetics201916
43Borderlines between Sarcopenia and Mild Late-Onset Muscle DiseaseFrontiers in Aging Neuroscience201415
44Germline copy number variation analysis in Finnish families with hereditary prostate cancerProstate201615
45Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix‐Saguenay, ARSACS, in a Finnish familyClinical Case Reports (discontinued)201614
46Adult onset limb-girdle muscular dystrophy — A recessive titinopathy masquerading as myositisJournal of the Neurological Sciences201513
47Differential Isoform Expression and Selective Muscle Involvement in Muscular DystrophiesAmerican Journal of Pathology201513
48Late-onset limb-girdle muscular dystrophy caused by GMPPB mutationsNeuromuscular Disorders201713
49No cardiomyopathy in X-linked myopathy with excessive autophagyNeuromuscular Disorders201512
50SNP interaction pattern identifier (SIPI): an intensive search for SNP–SNP interaction patternsBioinformatics201712