Tiina Suominen

Research interests

Publications

• Myasthenic congenital myopathy from recessive mutations at a single residue in Na V 1.4

  Neurology · 2019 · 10.1212/wnl.0000000000007185

• TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations

  Journal of Clinical Investigation · 2018 · 10.1172/jci97103

• Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/β-Cardiac Myosin (MYH7) Distal Myopathy

  Human Mutation · 2014 · 10.1002/humu.22553

• Atypical phenotypes in titinopathies explained by second titin mutations

  Annals of Neurology · 2014 · 10.1002/ana.24102

• Altered expression and splicing of Ca2+ metabolism genes in myotonic dystrophies DM1 and DM2

  Neuropathology and Applied Neurobiology · 2012 · 10.1111/j.1365-2990.2012.01289.x

• Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5

  Neurology · 2012 · 10.1212/wnl.0b013e31824c4682

• Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2

  Journal of Neurology · 2012 · 10.1007/s00415-012-6462-1

• Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland

  European Journal of Human Genetics · 2011 · 10.1038/ejhg.2011.23

• Distinct distal myopathy phenotype caused by VCP gene mutation in a Finnish family

  Neuromuscular Disorders · 2011 · 10.1016/j.nmd.2011.05.008

• A novel MYH7 mutation occurring independently in French and Norwegian Laing distal myopathy families and de novo in one Finnish patient

  Journal of Neurology · 2011 · 10.1007/s00415-011-5900-9

• Myopathies caused by homozygous titin mutations: limb-girdle muscular dystrophy 2J and variations of phenotype

  Journal of Neurology Neurosurgery & Psychiatry · 2010 · 10.1136/jnnp.2009.178434

• Differences in aberrant expression and splicing of sarcomeric proteins in the myotonic dystrophies DM1 and DM2

  Acta Neuropathologica · 2010 · 10.1007/s00401-010-0637-6

• Novel myosin heavy chain immunohistochemical double staining developed for the routine diagnostic separation of I, IIA and IIX fibers

  Acta Neuropathologica · 2010 · 10.1007/s00401-010-0643-8

• MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy

  Neurology · 2010 · 10.1212/wnl.0b013e3181eee4d5

• The first Italian family with tibial muscular dystrophy caused by a novel titin mutation

  Journal of Neurology · 2009 · 10.1007/s00415-009-5372-3

• Myotonic dystrophy type 2 found in two of sixty‐three persons diagnosed as having fibromyalgia

  Arthritis & Rheumatism · 2008 · 10.1002/art.24037

• Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene

  Neuromuscular Disorders · 2008 · 10.1016/j.nmd.2008.06.367

• Premutation allele pool in myotonic dystrophy type 2

  Neurology · 2008 · 10.1212/01.wnl.0000333665.01888.33

Current projects

No projects listed.