Published in Biochim Biophys Acta on December 20, 2012
Diverse lamin-dependent mechanisms interact to control chromatin dynamics. Focus on laminopathies. Nucleus (2014) 0.96
Rapamycin treatment of Mandibuloacral dysplasia cells rescues localization of chromatin-associated proteins and cell cycle dynamics. Aging (Albany NY) (2014) 0.90
Lamin B1 overexpression increases nuclear rigidity in autosomal dominant leukodystrophy fibroblasts. FASEB J (2014) 0.87
Regulation of Myelination in the Central Nervous System by Nuclear Lamin B1 and Non-coding RNAs. Transl Neurodegener (2014) 0.82
Messenger RNA processing is altered in autosomal dominant leukodystrophy. Hum Mol Genet (2015) 0.80
Lamin B1 protein is required for dendrite development in primary mouse cortical neurons. Mol Biol Cell (2015) 0.78
Nuclear lamins and oxidative stress in cell proliferation and longevity. Adv Exp Med Biol (2014) 0.77
Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science (2004) 15.91
Consensus statement on the definition of orthostatic hypotension, neurally mediated syncope and the postural tachycardia syndrome. Clin Auton Res (2011) 3.88
OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. Brain (2007) 3.35
Autophagy is defective in collagen VI muscular dystrophies, and its reactivation rescues myofiber degeneration. Nat Med (2010) 3.01
Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. Am J Hum Genet (2002) 2.90
Skin nerve α-synuclein deposits: a biomarker for idiopathic Parkinson disease. Neurology (2014) 2.31
Sympathetic skin response: basic mechanisms and clinical applications. Clin Auton Res (2003) 2.24
Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy. Brain (2013) 2.08
Chronic migraine classification: current knowledge and future perspectives. J Headache Pain (2011) 2.03
Retinal nerve fiber layer evaluation by optical coherence tomography in unaffected carriers with Leber's hereditary optic neuropathy mutations. Ophthalmology (2005) 2.01
Retinal nerve fiber layer evaluation by optical coherence tomography in Leber's hereditary optic neuropathy. Ophthalmology (2005) 1.88
Consensus statement on the definition of orthostatic hypotension, neurally mediated syncope and the postural tachycardia syndrome. Auton Neurosci (2011) 1.82
Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign. Am J Hum Genet (2003) 1.81
Antidiabetic drug metformin (GlucophageR) increases biogenesis of Alzheimer's amyloid peptides via up-regulating BACE1 transcription. Proc Natl Acad Sci U S A (2009) 1.76
Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins. Proc Natl Acad Sci U S A (2007) 1.74
Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians. Eur J Hum Genet (2005) 1.71
Diffusion-weighted brain imaging study of patients with clinical diagnosis of corticobasal degeneration, progressive supranuclear palsy and Parkinson's disease. Brain (2008) 1.69
PARK6-linked parkinsonism occurs in several European families. Ann Neurol (2002) 1.68
Familial and sporadic fatal insomnia. Lancet Neurol (2003) 1.65
The circadian rhythm of body core temperature (CRT) is normal in patient with congenital generalized anhidrosis. Clin Auton Res (2002) 1.64
Sleep-dependent changes in the coupling between heart period and blood pressure in human subjects. Am J Physiol Regul Integr Comp Physiol (2008) 1.59
Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies. Proc Natl Acad Sci U S A (2008) 1.59
Altered pre-lamin A processing is a common mechanism leading to lipodystrophy. Hum Mol Genet (2005) 1.54
Physiologic autonomic arousal heralds motor manifestations of seizures in nocturnal frontal lobe epilepsy: implications for pathophysiology. Sleep Med (2012) 1.51
Comparison of frovatriptan plus dexketoprofen (25 mg or 37.5 mg) with frovatriptan alone in the treatment of migraine attacks with or without aura: a randomized study. Cephalalgia (2013) 1.50
Homozygous PINK1 C-terminus mutation causing early-onset parkinsonism. Ann Neurol (2004) 1.44
Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype. Hum Genet (2002) 1.41
Idebenone treatment in Leber's hereditary optic neuropathy. Brain (2011) 1.39
Insomnia cycling with a 42-day infradian period: evidence for two uncoupled circadian oscillators? Sleep Med (2010) 1.38
Complex movement disorders at disease onset in childhood narcolepsy with cataplexy. Brain (2011) 1.35
Alterations of nuclear envelope and chromatin organization in mandibuloacral dysplasia, a rare form of laminopathy. Physiol Genomics (2005) 1.34
Interaction of tau protein with the dynactin complex. EMBO J (2007) 1.33
Laminopathies and lamin-associated signaling pathways. J Cell Biochem (2011) 1.28
Skin sympathetic adrenergic innervation: an immunofluorescence confocal study. Ann Neurol (2006) 1.26
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes. Hum Mol Genet (2013) 1.26
Visual system involvement in patients with Friedreich's ataxia. Brain (2008) 1.25
Remodelling of the nuclear lamina during human cytomegalovirus infection: role of the viral proteins pUL50 and pUL53. J Gen Virol (2008) 1.23
Sleep disorders in patients with spinal cord injury. Sleep Med Rev (2013) 1.22
The accumulation of un-repairable DNA damage in laminopathy progeria fibroblasts is caused by ROS generation and is prevented by treatment with N-acetyl cysteine. Hum Mol Genet (2011) 1.20
Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands. Neuromuscul Disord (2002) 1.19
The primary headaches as a reflection of genetic darwinian adaptive behavioral responses. Headache (2009) 1.17
Genetic ablation of cyclophilin D rescues mitochondrial defects and prevents muscle apoptosis in collagen VI myopathic mice. Hum Mol Genet (2009) 1.17
Personality traits in chronic daily headache patients with and without psychiatric comorbidity: an observational study in a tertiary care headache center. J Headache Pain (2013) 1.17
Sleep disorders in multiple system atrophy: a correlative video-polysomnographic study. Sleep Med (2004) 1.17
Pre-Lamin A processing is linked to heterochromatin organization. J Cell Biochem (2007) 1.14
Communication breaks-Down: from neurodevelopment defects to cognitive disabilities in Down syndrome. Prog Neurobiol (2010) 1.13
Magnetic resonance diagnostic markers in clinically sporadic prion disease: a combined brain magnetic resonance imaging and spectroscopy study. Brain (2009) 1.13
Molecular mechanisms of CD99-induced caspase-independent cell death and cell-cell adhesion in Ewing's sarcoma cells: actin and zyxin as key intracellular mediators. Oncogene (2004) 1.12
The etiology of acute recurrent pancreatitis in children: a challenge for pediatricians. Pancreas (2011) 1.12
MET overexpression turns human primary osteoblasts into osteosarcomas. Cancer Res (2006) 1.09
Expression of an IGF-I receptor dominant negative mutant induces apoptosis, inhibits tumorigenesis and enhances chemosensitivity in Ewing's sarcoma cells. Int J Cancer (2002) 1.09
Effects on collagen VI mRNA stability and microfibrillar assembly of three COL6A2 mutations in two families with Ullrich congenital muscular dystrophy. J Biol Chem (2002) 1.09
Increased prevalence of sleep disorders in chronic headache: a case-control study. Headache (2010) 1.08
Daytime sleepiness and neural cardiac modulation in sleep-related breathing disorders. J Sleep Res (2008) 1.08
Atypical progeroid syndrome due to heterozygous missense LMNA mutations. J Clin Endocrinol Metab (2009) 1.08
Lithium rescues synaptic plasticity and memory in Down syndrome mice. J Clin Invest (2012) 1.07
Headache, anxiety and depressive disorders: the HADAS study. J Headache Pain (2010) 1.07
The protein kinase Akt/PKB regulates both prelamin A degradation and Lmna gene expression. FASEB J (2013) 1.06
Abnormal sleep-cardiovascular system interaction in narcolepsy with cataplexy: effects of hypocretin deficiency in humans. Sleep (2012) 1.06
PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum. Hum Mutat (2008) 1.06
Excessive fragmentary hypnic myoclonus: clinical and neurophysiological findings. Sleep Med (2002) 1.05
Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features. J Clin Invest (2014) 1.04
A role for presenilin 1 in regulating the delivery of amyloid precursor protein to the cell surface. Neurobiol Dis (2002) 1.04
Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse. Mol Ther (2009) 1.04
108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, The Netherlands. Neuromuscul Disord (2003) 1.04
Association of emerin with nuclear and cytoplasmic actin is regulated in differentiating myoblasts. Biochem Biophys Res Commun (2003) 1.03
Nuclear receptor peroxisome proliferator-activated receptor-gamma is activated in rat microglial cells by the anti-inflammatory drug HCT1026, a derivative of flurbiprofen. J Neurochem (2005) 1.02
Lamin A Ser404 is a nuclear target of Akt phosphorylation in C2C12 cells. J Proteome Res (2008) 1.02
Constitutive heterochromatin: a surprising variety of expressed sequences. Chromosoma (2009) 1.01
Arousal elicits exaggerated inhibition of sympathetic nerve activity in phobic syncope patients. Brain (2007) 1.00
Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy. Eur J Hum Genet (2013) 1.00
Lamin A precursor induces barrier-to-autointegration factor nuclear localization. Cell Cycle (2010) 1.00
CD99 acts as an oncosuppressor in osteosarcoma. Mol Biol Cell (2006) 1.00
Tremor in primary adult-onset dystonia: prevalence and associated clinical features. J Neurol Neurosurg Psychiatry (2012) 0.99
Failure of lamin A/C to functionally assemble in R482L mutated familial partial lipodystrophy fibroblasts: altered intermolecular interaction with emerin and implications for gene transcription. Exp Cell Res (2003) 0.99
A novel phenotypic expression associated with a new mutation in LMNA gene, characterized by partial lipodystrophy, insulin resistance, aortic stenosis and hypertrophic cardiomyopathy. Clin Endocrinol (Oxf) (2008) 0.99
Early behavioural markers of disease in P301S tau transgenic mice. Behav Brain Res (2009) 0.99
Association of optic disc size with development and prognosis of Leber's hereditary optic neuropathy. Invest Ophthalmol Vis Sci (2008) 0.98
Pathophysiology inferred from electrodiagnostic nerve tests and classification of polyneuropathies. Suggested guidelines. Clin Neurophysiol (2005) 0.97
Compound heterozygosity for mutations in LMNA in a patient with a myopathic and lipodystrophic mandibuloacral dysplasia type A phenotype. J Clin Endocrinol Metab (2007) 0.97
Do restless legs syndrome (RLS) and periodic limb movements of sleep (PLMS) play a role in nocturnal hypertension and increased cardiovascular risk of renally impaired patients? Chronobiol Int (2009) 0.97
Novel COL6A1 splicing mutation in a family affected by mild Bethlem myopathy. Muscle Nerve (2002) 0.97
Proton pump inhibitor chemosensitization in human osteosarcoma: from the bench to the patients' bed. J Transl Med (2013) 0.97
Diverse lamin-dependent mechanisms interact to control chromatin dynamics. Focus on laminopathies. Nucleus (2014) 0.96