Published in Duodecim on January 01, 2003
The kinase domain of titin controls muscle gene expression and protein turnover. Science (2005) 3.68
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. Brain (2006) 3.16
Titin mutation segregates with hereditary myopathy with early respiratory failure. Brain (2012) 3.02
Apolipoprotein E-dependent accumulation of Alzheimer disease-related lesions begins in middle age. Ann Neurol (2009) 2.83
AS03 adjuvanted AH1N1 vaccine associated with an abrupt increase in the incidence of childhood narcolepsy in Finland. PLoS One (2012) 2.67
Late onset spinal motor neuronopathy is caused by mutation in CHCHD10. Ann Neurol (2014) 2.53
Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1. Nat Genet (2010) 2.35
Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin. Am J Hum Genet (2005) 2.23
Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. Am J Hum Genet (2002) 2.14
A randomised, double blind, placebo controlled trial with vitamin D3 as an add on treatment to interferon β-1b in patients with multiple sclerosis. J Neurol Neurosurg Psychiatry (2012) 2.13
Retracted VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidification. Cell (2009) 2.11
The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone. Nat Genet (2005) 2.05
Mono/oligoclonal T and NK cells are common in chronic myeloid leukemia patients at diagnosis and expand during dasatinib therapy. Blood (2010) 2.04
Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin. Brain (2012) 1.92
Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy. Nat Med (2011) 1.87
Interactions with titin and myomesin target obscurin and obscurin-like 1 to the M-band: implications for hereditary myopathies. J Cell Sci (2008) 1.84
The tumorigenic FGFR3-TACC3 gene fusion escapes miR-99a regulation in glioblastoma. J Clin Invest (2013) 1.76
Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy. Nat Genet (2012) 1.75
An E-health solution for automatic sleep classification according to Rechtschaffen and Kales: validation study of the Somnolyzer 24 x 7 utilizing the Siesta database. Neuropsychobiology (2005) 1.71
Acute treatment of migraine with the selective 5-HT1F receptor agonist lasmiditan--a randomised proof-of-concept trial. Cephalalgia (2010) 1.67
Genome-wide association analysis identifies susceptibility loci for migraine without aura. Nat Genet (2012) 1.64
Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect. Am J Hum Genet (2003) 1.59
ERBB receptor signaling promotes ependymoma cell proliferation and represents a potential novel therapeutic target for this disease. Clin Cancer Res (2002) 1.58
A susceptibility locus for migraine with aura, on chromosome 4q24. Am J Hum Genet (2002) 1.55
Incidence of gliomas by anatomic location. Neuro Oncol (2007) 1.55
Autonomic arousal to direct gaze correlates with social impairments among children with ASD. J Autism Dev Disord (2012) 1.54
Hereditary myopathy with early respiratory failure: occurrence in various populations. J Neurol Neurosurg Psychiatry (2013) 1.52
Distal myopathy caused by homozygous missense mutations in the nebulin gene. Brain (2007) 1.46
Comorbidity in Finnish migraine families. J Headache Pain (2006) 1.43
[Not Available]. Duodecim (2007) 1.38
VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy. Acta Neuropathol (2013) 1.34
Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland. Eur J Hum Genet (2011) 1.33
XRCC1 and XRCC3 variants and risk of glioma and meningioma. J Neurooncol (2008) 1.30
PME-1 protects extracellular signal-regulated kinase pathway activity from protein phosphatase 2A-mediated inactivation in human malignant glioma. Cancer Res (2009) 1.27
Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD). Neuromuscul Disord (2008) 1.21
A high-density association screen of 155 ion transport genes for involvement with common migraine. Hum Mol Genet (2008) 1.17
Haploinsuffciency for Znf9 in Znf9+/- mice is associated with multiorgan abnormalities resembling myotonic dystrophy. J Mol Biol (2007) 1.14
Development and comparison of four sleep spindle detection methods. Artif Intell Med (2007) 1.11
Perinuclear leucine-rich repeats and immunoglobulin-like domain proteins (LRIG1-3) as prognostic indicators in astrocytic tumors. Acta Neuropathol (2006) 1.10
Chronic myeloid leukemia patients in prolonged remission following interferon-α monotherapy have distinct cytokine and oligoclonal lymphocyte profile. PLoS One (2011) 1.10
Guidelines for the organization of headache education in Europe: the headache school. Funct Neurol (2005) 1.09
Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy. Am J Hum Genet (2011) 1.09
Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T-->C mutation. Ann Neurol (2005) 1.08
Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1. Ann Neurol (2013) 1.07
Pattern of somatic androgen receptor gene mutations in patients with hormone-refractory prostate cancer. Lab Invest (2002) 1.06
Myotonic dystrophy type 2 found in two of sixty-three persons diagnosed as having fibromyalgia. Arthritis Rheum (2008) 1.06
Uric acid correlates with the severity of histopathological parameters in IgA nephropathy. Nephrol Dial Transplant (2004) 1.05
Cytoplasmic LRIG2 expression is associated with poor oligodendroglioma patient survival. Neuropathology (2009) 1.05
Acute central nervous system complications in varicella zoster virus infections. J Clin Virol (2002) 1.04
New phenotype and pathology features in MYH7-related distal myopathy. Neuromuscul Disord (2012) 1.03
Tibial muscular dystrophy in a Belgian family. Ann Neurol (2003) 1.01
Recessive TTN truncating mutations define novel forms of core myopathy with heart disease. Hum Mol Genet (2013) 1.01
Carbonic anhydrase IX is highly expressed in hereditary nonpolyposis colorectal cancer. Cancer Epidemiol Biomarkers Prev (2007) 1.00
Consistently replicating locus linked to migraine on 10q22-q23. Am J Hum Genet (2008) 0.99
A novel low-penetrance locus for familial glioma at 15q23-q26.3. Cancer Res (2002) 0.99
A study on gender and age differences in sleep spindles. Neuropsychobiology (2002) 0.99
The enigma of 7q36 linked autosomal dominant limb girdle muscular dystrophy. J Neurol Neurosurg Psychiatry (2010) 0.98
Cancer incidence in families with multiple glioma patients. Int J Cancer (2002) 0.98
The first Italian family with tibial muscular dystrophy caused by a novel titin mutation. J Neurol (2009) 0.98
Identification of an alternatively spliced isoform of carbonic anhydrase XII in diffusely infiltrating astrocytic gliomas. Neuro Oncol (2008) 0.97
Distinct distal myopathy phenotype caused by VCP gene mutation in a Finnish family. Neuromuscul Disord (2011) 0.97
Female predominance in meningiomas can not be explained by differences in progesterone, estrogen, or androgen receptor expression. J Neurooncol (2006) 0.96
No serological evidence of influenza A H1N1pdm09 virus infection as a contributing factor in childhood narcolepsy after Pandemrix vaccination campaign in Finland. PLoS One (2013) 0.96
Automatic sleep stage classification using two-channel electro-oculography. J Neurosci Methods (2007) 0.96
Collecting high-quality pancreatic tissue for experimental study from organ donors with signs of β-cell autoimmunity. Diabetes Metab Res Rev (2010) 0.96
Human disease caused by loss of fast IIa myosin heavy chain due to recessive MYH2 mutations. Brain (2010) 0.96
Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy. Hum Mutat (2014) 0.95
Acetazolamide improves neurotological abnormalities in a family with episodic ataxia type 2 (EA-2). J Neurol (2004) 0.95
Sleep and the menopause - do postmenopausal women experience worse sleep than premenopausal women? Menopause Int (2008) 0.95
Mutant (CCTG)n expansion causes abnormal expression of zinc finger protein 9 (ZNF9) in myotonic dystrophy type 2. Am J Pathol (2010) 0.95
Type 1 diabetes is associated with enterovirus infection in gut mucosa. Diabetes (2012) 0.95
Serological responses to microbial antigens in celiac disease patients during a gluten-free diet. J Clin Immunol (2008) 0.95
Differences in aberrant expression and splicing of sarcomeric proteins in the myotonic dystrophies DM1 and DM2. Acta Neuropathol (2010) 0.94
Thalamic calcification in vitamin D receptor knockout mice. Neuroreport (2006) 0.94
Expression of iron-related genes in human brain and brain tumors. BMC Neurosci (2009) 0.94
Carbonic anhydrase IX in oligodendroglial brain tumors. BMC Cancer (2008) 0.93
Executive dysfunction in patients with obstructive sleep apnea syndrome. Eur Neurol (2009) 0.93
Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies. J Biol Chem (2010) 0.92
Myotilinopathy in a family with late onset myopathy. Neuromuscul Disord (2006) 0.92
Depth of response assessed by quantitative ASO-PCR predicts the outcome after stem cell transplantation in multiple myeloma. Eur J Haematol (2010) 0.92
Antioxidant enzymes in oligodendroglial brain tumors: association with proliferation, apoptotic activity and survival. J Neurooncol (2006) 0.92
Degradative and mechanical properties of a novel resorbable plating system during a 3-year follow-up in vivo and in vitro. J Mater Sci Mater Med (2007) 0.91
Neurological outcome of childhood brain tumor survivors. J Neurooncol (2012) 0.91
Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study. Acta Neuropathol (2009) 0.91
Pain in patients with myotonic dystrophy type 2: a postal survey in Finland. Muscle Nerve (2012) 0.91
A novel sequence variation in the transactivation regulating domain of the androgen receptor in two infertile Finnish men. Fertil Steril (2003) 0.91
Expression of multiple nebulin isoforms in human skeletal muscle and brain. Muscle Nerve (2012) 0.91
Characterization of TEM1/endosialin in human and murine brain tumors. BMC Cancer (2009) 0.91
KIT overexpression induces proliferation in astrocytes in an imatinib-responsive manner and associates with proliferation index in gliomas. Int J Cancer (2008) 0.91
Androgen receptor amplification is associated with increased cell proliferation in prostate cancer. Hum Pathol (2007) 0.91
Carbonic anhydrase II in the endothelium of glial tumors: a potential target for therapy. Neuro Oncol (2007) 0.90