White matter changes in patients with Parkinson's disease carrying small CGG expansion FMR1 alleles: a pilot study.

PubWeight™: 0.75‹?›

🔗 View Article (PMID 24401315)

Published in Neurodegener Dis on December 24, 2013

Authors

Nicholas Trost1, Mark Cook, Eleanor Hammersley, Minh Q Bui, Peter Brotchie, Trent Burgess, Howard Slater, Elsdon Storey, Danuta Z Loesch

Author Affiliations

1: MRI Centre, St. Vincent's Hospital Melbourne, Fitzroy, Vic., Australia.

Articles by these authors

Azacitidine augments expansion of regulatory T cells after allogeneic stem cell transplantation in patients with acute myeloid leukemia (AML). Blood (2012) 2.39

Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation. Am J Med Genet B Neuropsychiatr Genet (2005) 2.35

Autism spectrum phenotype in males and females with fragile X full mutation and premutation. J Autism Dev Disord (2007) 2.28

Allogeneic stem-cell transplantation using a reduced-intensity conditioning regimen has the capacity to produce durable remissions and long-term disease-free survival in patients with high-risk acute myeloid leukemia and myelodysplasia. J Clin Oncol (2005) 2.20

Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans. PLoS Genet (2007) 2.09

Carbon dioxide insufflation in open-chamber cardiac surgery: a double-blind, randomized clinical trial of neurocognitive effects. J Thorac Cardiovasc Surg (2012) 2.04

Human centromere repositioning "in progress". Proc Natl Acad Sci U S A (2004) 1.88

Impairment in the cognitive functioning of men with fragile X-associated tremor/ataxia syndrome (FXTAS). J Neurol Sci (2006) 1.75

Immunoglobulin free light chain levels and recovery from myeloma kidney on treatment with chemotherapy and high cut-off haemodialysis. Nephrol Dial Transplant (2012) 1.62

Early reduction of serum-free light chains associates with renal recovery in myeloma kidney. J Am Soc Nephrol (2011) 1.57

Efficient removal of immunoglobulin free light chains by hemodialysis for multiple myeloma: in vitro and in vivo studies. J Am Soc Nephrol (2007) 1.54

Critical relationship between sodium valproate dose and human teratogenicity: results of the Australian register of anti-epileptic drugs in pregnancy. J Clin Neurosci (2004) 1.51

Rationale for a trial of low-dose aspirin for the primary prevention of major adverse cardiovascular events and vascular dementia in the elderly: Aspirin in Reducing Events in the Elderly (ASPREE). Drugs Aging (2003) 1.47

Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio. Hum Mol Genet (2010) 1.31

Treatment of acute renal failure secondary to multiple myeloma with chemotherapy and extended high cut-off hemodialysis. Clin J Am Soc Nephrol (2009) 1.30

4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment. Eur J Med Genet (2009) 1.30

Impairment of executive cognitive functioning in males with fragile X-associated tremor/ataxia syndrome. Mov Disord (2007) 1.28

The cerebellum and neuropsychological functioning: a critical review. J Clin Exp Neuropsychol (2011) 1.25

Dominantly inherited ataxia and dysphonia with dentate calcification: spinocerebellar ataxia type 20. Brain (2004) 1.25

EEG source localization in focal epilepsy: where are we now? Epilepsia (2007) 1.22

Factors predicting long-term survival after T-cell depleted reduced intensity allogeneic stem cell transplantation for acute myeloid leukemia. Haematologica (2009) 1.17

Magnetic resonance imaging study in older fragile X premutation male carriers. Ann Neurol (2005) 1.16

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS): a review of the clinical features and video-oculographic diagnosis. Ann N Y Acad Sci (2011) 1.14

An improved Diagnostic PCR Assay for identification of Cryptic Heterozygosity for CGG Triplet Repeat Alleles in the Fragile X Gene (FMR1). Mol Cytogenet (2008) 1.12

High-throughput analysis of chromosome abnormality in spontaneous miscarriage using an MLPA subtelomere assay with an ancillary FISH test for polyploidy. Am J Med Genet A (2006) 1.12

Growth in stature and head circumference in high-functioning autism and Asperger disorder during the first 3 years of life. Dev Psychopathol (2006) 1.07

Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism. Genet Med (2011) 1.06

FOXP1 mutations cause intellectual disability and a recognizable phenotype. Am J Med Genet A (2013) 1.04

A model for offering carrier screening for fragile X syndrome to nonpregnant women: results from a pilot study. Genet Med (2008) 1.00

Australian pregnancy registry of women taking antiepileptic drugs. Epilepsia (2004) 0.99

Extending the scope of diagnostic chromosome analysis: detection of single gene defects using high-resolution SNP microarrays. Hum Mutat (2011) 0.99

Linkage analysis of a model quantitative trait in humans: finger ridge count shows significant multivariate linkage to 5q14.1. PLoS Genet (2007) 0.99

Ridgecounter: a program for obtaining semi-automated finger ridge counts. Ann Hum Biol (2007) 0.97

Determining the safety of enzymes used in animal feed. Regul Toxicol Pharmacol (2009) 0.97

A phase 2 study of SRT501 (resveratrol) with bortezomib for patients with relapsed and or refractory multiple myeloma. Br J Haematol (2012) 0.97

Behavioural and cognitive phenotypes in idiopathic autism versus autism associated with fragile X syndrome. J Child Psychol Psychiatry (2008) 0.97

Improved testing for CMT1A and HNPP using multiplex ligation-dependent probe amplification (MLPA) with rapid DNA preparations: comparison with the interphase FISH method. Hum Mutat (2004) 0.96

Development of a multiplex ligation-dependent probe amplification assay for diagnosis and estimation of the frequency of spinocerebellar ataxia type 15. Clin Chem (2009) 0.95

A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33. PLoS One (2010) 0.95

FMR1 intron 1 methylation predicts FMRP expression in blood of female carriers of expanded FMR1 alleles. J Mol Diagn (2011) 0.94

Semantic verbal fluency strategies in amnestic mild cognitive impairment. Neuropsychology (2012) 0.94

Phenotype in novel Xp duplication. Am J Med Genet A (2012) 0.94

European trial of free light chain removal by extended haemodialysis in cast nephropathy (EuLITE): a randomised control trial. Trials (2008) 0.94

5q31.3 Microdeletion syndrome: clinical and molecular characterization of two further cases. Am J Med Genet A (2013) 0.94

Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy. Brain (2009) 0.94

Phenotypic variability of distal 22q11.2 copy number abnormalities. Am J Med Genet A (2011) 0.93

Atypical Silver-Russell phenotype resulting from maternal uniparental disomy of chromosome 7. Am J Med Genet A (2010) 0.92

Spinocerebellar ataxia type 15 (sca15) maps to 3p24.2-3pter: exclusion of the ITPR1 gene, the human orthologue of an ataxic mouse mutant. Neurobiol Dis (2003) 0.91

Bortezomib, low-dose intravenous melphalan, and dexamethasone for patients with relapsed multiple myeloma. Br J Haematol (2009) 0.90

Questionable pathogenicity of FOXG1 duplication. Eur J Hum Genet (2012) 0.90

Fragile X-related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study. Genet Med (2012) 0.90

Effect of Turner's syndrome and X-linked imprinting on cognitive status: analysis based on pedigree data. Brain Dev (2005) 0.90

Differential pattern of CD4+ and CD8+ T-cell immunity to MAGE-A1/A2/A3 in patients with monoclonal gammopathy of undetermined significance (MGUS) and multiple myeloma. Blood (2008) 0.90

Fragile X mental retardation 1 (FMR1) intron 1 methylation in blood predicts verbal cognitive impairment in female carriers of expanded FMR1 alleles: evidence from a pilot study. Clin Chem (2012) 0.90

Fatal acute varicella-zoster virus hemorrhagic meningomyelitis with necrotizing vasculitis in an HIV-infected patient. Clin Infect Dis (2009) 0.89

Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome. Eur J Hum Genet (2010) 0.89

Resolution of cast nephropathy following free light chain removal by haemodialysis in a patient with multiple myeloma: a case report. J Med Case Rep (2008) 0.89

Controlled delivery for neuro-bionic devices. Adv Drug Deliv Rev (2012) 0.89

Superior cerebellar peduncle atrophy in Friedreich's ataxia correlates with disease symptoms. Cerebellum (2011) 0.88

Global expression profiling in epileptogenesis: does it add to the confusion? Brain Pathol (2009) 0.87

A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20. Hum Mol Genet (2008) 0.87

Towards an understanding of cognitive function in Friedreich ataxia. Brain Res Bull (2006) 0.86

Skeletonized internal thoracic artery harvesting reduces chest wall dysesthesia after coronary bypass surgery. J Thorac Cardiovasc Surg (2009) 0.86

Cognitive deficits in Friedreich ataxia correlate with micro-structural changes in dentatorubral tract. Cerebellum (2014) 0.86

Aggregated serum free light chains may prevent adequate removal by high cut-off haemodialysis. Nephrol Dial Transplant (2011) 0.86

Linking the FMR1 alleles with small CGG expansions with neurodevelopmental disorders: preliminary data suggest an involvement of epigenetic mechanisms. Am J Med Genet A (2009) 0.86

Spinocerebellar ataxia type 15. Cerebellum (2005) 0.86

Ulcerative dermatitis in C57BL/6 mice lacking stearoyl CoA desaturase 1. Comp Med (2012) 0.86

Depression in temporal lobe epilepsy surgery patients: an FDG-PET study. Epilepsia (2006) 0.85

Local-global processing in Alzheimer's disease: an examination of interference, inhibition and priming. Neuropsychologia (2002) 0.85

Relationship between control beliefs, strategy use, and memory performance in amnestic mild cognitive impairment and healthy aging. J Gerontol B Psychol Sci Soc Sci (2013) 0.84

Feasibility of conducting a primary prevention trial of low-dose aspirin for major adverse cardiovascular events in older people in Australia: results from the ASPirin in Reducing Events in the Elderly (ASPREE) pilot study. Med J Aust (2008) 0.84

The prognosis of idiopathic generalized epilepsy. Epilepsia (2012) 0.84

Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and puberty. Hum Mol Genet (2013) 0.84

High resolution chromosomal microarray in undiagnosed neurological disorders. J Paediatr Child Health (2013) 0.84

Learning and memory in amnestic mild cognitive impairment: contribution of working memory. J Int Neuropsychol Soc (2010) 0.83

Neurophysiological evidence for generalized sensory neuronopathy in cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome. Muscle Nerve (2015) 0.83

Differential progression of renal scarring and determinants of late renal recovery in sustained dialysis dependent acute kidney injury secondary to myeloma kidney. J Clin Pathol (2010) 0.83

Performance of everyday actions in mild Alzheimer's disease. Neuropsychology (2008) 0.83

Association of the MELAS m.3243A>G mutation with myositis and the superiority of urine over muscle, blood and hair for mutation detection. J Clin Neurosci (2009) 0.83

Elevated FOSB-expression; a potential marker of valproate sensitivity in AML. Br J Haematol (2008) 0.83

Improved methodology for assessment of mRNA levels in blood of patients with FMR1 related disorders. BMC Clin Pathol (2009) 0.83

Re-transplantation after bortezomib-based therapy. Br J Haematol (2011) 0.82

KIR and HLA-C interactions promote differential dendritic cell maturation and is a major determinant of graft failure following kidney transplantation. PLoS One (2011) 0.81

Aspirin for the prevention of cognitive decline in the elderly: rationale and design of a neuro-vascular imaging study (ENVIS-ion). BMC Neurol (2012) 0.81

Dorsal root ganglionopathy is responsible for the sensory impairment in CANVAS. Neurology (2014) 0.81

Focal abnormalities in idiopathic generalized epilepsy: a critical review of the literature. Epilepsia (2014) 0.81

Preoperative evaluation for temporal lobe surgery. J Clin Neurosci (2003) 0.81

Copy-number variation associated with congenital anomalies of the kidney and urinary tract. Pediatr Nephrol (2014) 0.81

The genotype of RAET1L (ULBP6), a ligand for human NKG2D (KLRK1), markedly influences the clinical outcome of allogeneic stem cell transplantation. Br J Haematol (2012) 0.81

CD8(+) T-cell immunity against cancer-testis antigens develops following allogeneic stem cell transplantation and reveals a potential mechanism for the graft-versus-leukemia effect. Haematologica (2010) 0.81

Clinical measures of prospective memory in amnestic mild cognitive impairment. J Int Neuropsychol Soc (2012) 0.80

The electroencephalogram of idiopathic generalized epilepsy. Epilepsia (2011) 0.80

The utility of ambulatory electroencephalography in routine clinical practice: a critical review. Epilepsy Res (2013) 0.80