Published in Mov Disord on August 15, 2007
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Design and end points of clinical trials for patients with progressive prostate cancer and castrate levels of testosterone: recommendations of the Prostate Cancer Clinical Trials Working Group. J Clin Oncol (2008) 18.54
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Genet (2004) 5.19
Open letter to prime minister David Cameron and health secretary Andrew Lansley. BMJ (2010) 4.52
VPS35 mutations in Parkinson disease. Am J Hum Genet (2011) 4.16
Randomized, double-blind, placebo-controlled phase III trial comparing docetaxel and prednisone with or without bevacizumab in men with metastatic castration-resistant prostate cancer: CALGB 90401. J Clin Oncol (2012) 3.73
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Relative quantification of proteins in human cerebrospinal fluids by MS/MS using 6-plex isobaric tags. Anal Chem (2008) 3.04
DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. Am J Respir Crit Care Med (2006) 2.92
Tumor localization of 16beta-18F-fluoro-5alpha-dihydrotestosterone versus 18F-FDG in patients with progressive, metastatic prostate cancer. J Nucl Med (2004) 2.89
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature (2011) 2.59
Gait assessment in Parkinson's disease: toward an ambulatory system for long-term monitoring. IEEE Trans Biomed Eng (2004) 2.32
The craniocervical venous system in relation to cerebral venous drainage. AJNR Am J Neuroradiol (2002) 2.27
Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia. Am J Respir Crit Care Med (2005) 2.25
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). Am J Hum Genet (2007) 2.22
Severe multivalvular heart disease: a new complication of the ergot derivative dopamine agonists. Mov Disord (2004) 2.19
DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm. Am J Hum Genet (2008) 2.17
Incidence of nephrogenic systemic fibrosis at two large medical centers. Radiology (2008) 2.16
Phantosmias and Parkinson disease. Arch Neurol (2008) 2.13
Eligibility and outcomes reporting guidelines for clinical trials for patients in the state of a rising prostate-specific antigen: recommendations from the Prostate-Specific Antigen Working Group. J Clin Oncol (2004) 2.04
PARK7 and nucleoside diphosphate kinase A as plasma markers for the early diagnosis of stroke. Clin Chem (2005) 1.94
Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21. Eur J Hum Genet (2008) 1.90
Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation. Am J Respir Crit Care Med (2006) 1.80
Nephrocystin specifically localizes to the transition zone of renal and respiratory cilia and photoreceptor connecting cilia. J Am Soc Nephrol (2006) 1.79
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. Nat Genet (2012) 1.70
Quantification of tremor and bradykinesia in Parkinson's disease using a novel ambulatory monitoring system. IEEE Trans Biomed Eng (2007) 1.68
Ambulatory monitoring of physical activities in patients with Parkinson's disease. IEEE Trans Biomed Eng (2007) 1.66
Chronic parkinsonism associated with cirrhosis: a distinct subset of acquired hepatocerebral degeneration. Arch Neurol (2003) 1.65
Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster. Genome Res (2014) 1.63
Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report. Genet Med (2011) 1.62
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome. PLoS Genet (2011) 1.60
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
Overview and recommendations for medical screening and diagnostic evaluation for postdeployment lung disease in returning US warfighters. J Occup Environ Med (2012) 1.54
Opsoclonus-myoclonus syndrome in anti-N-methyl-D-aspartate receptor encephalitis. Arch Neurol (2010) 1.52
Phase II study of Lutetium-177-labeled anti-prostate-specific membrane antigen monoclonal antibody J591 for metastatic castration-resistant prostate cancer. Clin Cancer Res (2013) 1.51
High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. J Med Genet (2013) 1.50
Levodopa in the treatment of Parkinson's disease: an old drug still going strong. Clin Interv Aging (2010) 1.49
Use of the Nerve Integrity Monitor during Thyroid Surgery Aids Identification of the External Branch of the Superior Laryngeal Nerve. Ann Surg Oncol (2014) 1.46
Early onset and rapidly progressive subacute sclerosing panencephalitis after congenital measles infection. Eur J Pediatr (2002) 1.40
Skull base cerebrospinal fluid fistula: a novel detection method based on two-dimensional electrophoresis. Head Neck (2004) 1.39
Arterialization of cerebral veins on dynamic MDCT angiography: a possible sign of a dural arteriovenous fistula. AJR Am J Roentgenol (2005) 1.37
Phosphorylation by casein kinase 2 induces PACS-1 binding of nephrocystin and targeting to cilia. EMBO J (2005) 1.35
Parenchymal abnormalities associated with developmental venous anomalies. Neuroradiology (2007) 1.26
Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: clinical and genetic analysis. Am J Med Genet A (2006) 1.23
Methylphenidate for fatigue in ambulatory men with prostate cancer. Cancer (2010) 1.23
PET-based radiation dosimetry in man of 18F-fluorodihydrotestosterone, a new radiotracer for imaging prostate cancer. J Nucl Med (2004) 1.22
Reluctance to undergo predictive testing: the case of Huntington disease. Am J Med Genet (1993) 1.17
Reversible cytotoxic edema in the splenium of the corpus callosum related to antiepileptic treatment: report of two cases and literature review. Epilepsia (2005) 1.14
Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature. Am J Med Genet B Neuropsychiatr Genet (2013) 1.13
Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1. Am J Hum Genet (2006) 1.12
Fatty acid binding protein as a serum marker for the early diagnosis of stroke: a pilot study. Mol Cell Proteomics (2003) 1.12
Clinical applications of diffusion tensor tractography of the spinal cord. Neuroradiology (2007) 1.11
ApoC-I and ApoC-III as potential plasmatic markers to distinguish between ischemic and hemorrhagic stroke. Proteomics (2004) 1.11
Nicolaides-Baraitser syndrome: Delineation of the phenotype. Am J Med Genet A (2009) 1.11
Abnormal patterns of cortical gyrification in velo-cardio-facial syndrome (deletion 22q11.2): an MRI study. Psychiatry Res (2006) 1.10
Resistin impairs endothelium-dependent dilation to bradykinin, but not acetylcholine, in the coronary circulation. Am J Physiol Heart Circ Physiol (2006) 1.10
Cystatin C as a potential cerebrospinal fluid marker for the diagnosis of Creutzfeldt-Jakob disease. Proteomics (2004) 1.09
Giant plexiform neurofibroma in neurofibromatosis type 1. Arch Neurol (2010) 1.09
Benchmarks for cystic fibrosis carrier screening: a European consensus document. J Cyst Fibros (2010) 1.08
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome with renal failure: impact of posttransplant immunosuppression on disease activity. J Clin Endocrinol Metab (2005) 1.08
Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families. Hum Mutat (2014) 1.08
Leveraging remote behavioral health interventions to improve medical outcomes and reduce costs. Am J Manag Care (2015) 1.07
Identification of post-mortem cerebrospinal fluid proteins as potential biomarkers of ischemia and neurodegeneration. Proteomics (2004) 1.07
Velocity control in Parkinson's disease: a quantitative analysis of isochrony in scribbling movements. Exp Brain Res (2009) 1.06
Standing-based office work shows encouraging signs of attenuating post-prandial glycaemic excursion. Occup Environ Med (2013) 1.05
Augmenting advance care planning in poor prognosis cancer with a video decision aid: a preintervention-postintervention study. Cancer (2012) 1.04
Burn injury enhances bone formation in heterotopic ossification model. Ann Surg (2014) 1.03
Periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis syndrome is linked to dysregulated monocyte IL-1β production. J Allergy Clin Immunol (2012) 1.03
Rapid androgen cycling as treatment for patients with prostate cancer. Clin Cancer Res (2006) 1.03
ETD in a traveling wave ion guide at tuned Z-spray ion source conditions allows for site-specific hydrogen/deuterium exchange measurements. J Am Soc Mass Spectrom (2011) 1.01
Intermediate and premutation FMR1 alleles in women with occult primary ovarian insufficiency. Fertil Steril (2008) 1.01
A non-comparative randomized phase II study of 2 doses of ATN-224, a copper/zinc superoxide dismutase inhibitor, in patients with biochemically recurrent hormone-naïve prostate cancer. Urol Oncol (2011) 0.99
Restless arms. Lancet (2008) 0.99
Truncated cystatin C in cerebrospiral fluid: Technical [corrected] artefact or biological process? Proteomics (2005) 0.99
A case of SUDEP in a patient with Dravet syndrome with SCN1A mutation. Epilepsia (2010) 0.99
Serum steroid profiling for congenital adrenal hyperplasia using liquid chromatography-tandem mass spectrometry. Clin Chim Acta (2009) 0.97
Identification of mutations in TCOF1: use of molecular analysis in the pre- and postnatal diagnosis of Treacher Collins syndrome. Am J Med Genet A (2004) 0.96
Combination of event-related fMRI and diffusion tensor imaging in an infant with perinatal stroke. Neuroimage (2004) 0.96
State-of-the-art two-dimensional gel electrophoresis: a key tool of proteomics research. Nat Protoc (2006) 0.96
Identification of brain cell death associated proteins in human post-mortem cerebrospinal fluid. J Proteome Res (2006) 0.94
Brain extracellular fluid protein changes in acute stroke patients. J Proteome Res (2011) 0.93
Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome. Hum Mutat (2006) 0.93
A polyvalent vaccine for high-risk prostate patients: "are more antigens better?". Cancer Immunol Immunother (2007) 0.93
The efficacy of frequency specific microcurrent therapy on delayed onset muscle soreness. J Bodyw Mov Ther (2010) 0.93
Revenue sources for essential services in Florida: findings and implications for organizing and funding public health. J Public Health Manag Pract (2013) 0.92
A t(2;8) balanced translocation with breakpoints near the human HOXD complex causes mesomelic dysplasia and vertebral defects. Genomics (2002) 0.92
Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism. Am J Hum Genet (2006) 0.92
Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes. Hum Mutat (2009) 0.92
Long-term cognitive profile and incidence of dementia after STN-DBS in Parkinson's disease. Mov Disord (2007) 0.91
Clinical experience with intravenous estramustine phosphate, paclitaxel, and carboplatin in patients with castrate, metastatic prostate adenocarcinoma. Cancer (2003) 0.91
A de novo 1.1-1.6 Mb subtelomeric deletion of chromosome 20q13.33 in a patient with learning difficulties but without obvious dysmorphic features. Am J Med Genet A (2007) 0.91
A rapid and accurate approach to identify single nucleotide polymorphisms of mitochondrial DNA using MALDI-TOF mass spectrometry. Clin Chem Lab Med (2008) 0.91
Ditch blocking, water chemistry and organic carbon flux: evidence that blanket bog restoration reduces erosion and fluvial carbon loss. Sci Total Environ (2011) 0.91
Diffusion tensor imaging (DTI) and tractography of the brachial plexus: feasibility and initial experience in neoplastic conditions. Neuroradiology (2010) 0.89
Etiologies of Parkinsonism in a century-long autopsy-based cohort. Brain Pathol (2012) 0.89
Ubiquitin fusion degradation protein 1 as a blood marker for the early diagnosis of ischemic stroke. Biomark Insights (2007) 0.89
A novel approach to reducing number of sensing units for wearable gait analysis systems. IEEE Trans Biomed Eng (2012) 0.89
Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome. J Med Genet (2009) 0.88
Proteomics in human Parkinson's disease research. J Proteomics (2009) 0.88
Neuropathology of Lewy body disorders. Brain Res Bull (2009) 0.88