Published in Alzheimer Dis Assoc Disord on September 06, 2007
Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome. Lancet Neurol (2013) 2.41
Neuropathological, clinical and molecular pathology in female fragile X premutation carriers with and without FXTAS. Genes Brain Behav (2012) 1.44
Dementia in fragile X-associated tremor/ataxia syndrome (FXTAS): comparison with Alzheimer's disease. Am J Med Genet B Neuropsychiatr Genet (2008) 1.32
Fragile X-associated tremor/ataxia syndrome: clinical phenotype, diagnosis, and treatment. J Investig Med (2009) 1.27
Associated features in females with an FMR1 premutation. J Neurodev Disord (2014) 0.94
Ages of Onset of Mood and Anxiety Disorders in Fragile X Premutation Carriers. Curr Psychiatry Rev (2013) 0.84
Unstable mutations in the FMR1 gene and the phenotypes. Adv Exp Med Biol (2012) 0.84
Distribution and frequency of intranuclear inclusions in female CGG KI mice modeling the fragile X premutation. Brain Res (2012) 0.80
COGNITIVE DYSFUNCTION IN FMR1 PREMUTATION CARRIERS. Curr Psychiatry Rev (2013) 0.79
Towards an Understanding of Neuropsychiatric Manifestations in Fragile X Premutation Carriers. Future Neurol (2014) 0.78
Risk Factors for Cognitive Impairment in Fragile X-Associated Tremor/Ataxia Syndrome. J Geriatr Psychiatry Neurol (2016) 0.75
Current research, diagnosis, and treatment of fragile X-associated tremor/ataxia syndrome. Intractable Rare Dis Res (2014) 0.75
Fragile X premutation in women: recognizing the health challenges beyond primary ovarian insufficiency. J Assist Reprod Genet (2016) 0.75
Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. Am J Hum Genet (2012) 3.80
Neurologic complications of gastric bypass surgery for morbid obesity. Neurology (2007) 2.80
β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. Brain (2013) 2.40
Multiple myeloma invasion of the central nervous system. Arch Neurol (2004) 2.12
Cystic fibrosis carrier testing in an ethnically diverse US population. Clin Chem (2011) 2.05
Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens. Eur J Hum Genet (2011) 1.88
REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31. Brain (2008) 1.77
Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for Molecular Pathology. J Mol Diagn (2012) 1.57
Reversible posterior leukoencephalopathy syndrome induced by RAF kinase inhibitor BAY 43-9006. J Clin Oncol (2006) 1.42
Acute bilateral inferior cerebellar infarction in a patient with neurosyphilis. Arch Neurol (2004) 1.17
Peripheral nervous system pathology in fragile X tremor/ataxia syndrome (FXTAS). Neuropathology (2008) 1.17
Ovarian failure in ataxia with oculomotor apraxia type 2. Am J Med Genet A (2007) 1.07
Technical standards and guidelines for spinal muscular atrophy testing. Genet Med (2011) 0.92
Role of dihydroxyacetonephosphate acyltransferase in the biosynthesis of plasmalogens and nonether glycerolipids. J Lipid Res (2005) 0.90
Population carrier screening for spinal muscular atrophy a position statement of the association for molecular pathology. J Mol Diagn (2010) 0.87
Episodic nausea and abdominal sensations as sole manifestations of simple partial seizures. Neurosciences (Riyadh) (2007) 0.79
A novel duplication/insertion mutation of NEFL in a patient with Charcot-Marie-Tooth disease. Am J Med Genet A (2006) 0.79
beta-Adrenergics enhance brain extraction of levodopa. Mov Disord (2002) 0.78
Tiagabine-induced non-convulsive status epilepticus in a patient without history of epilepsy. Neurosciences (Riyadh) (2007) 0.77
Effect of apomorphine on plasma large neutral amino acids in volunteer subjects. Neurosciences (Riyadh) (2006) 0.75
Albuterol improves response to levodopa and increases skeletal muscle mass in patients with fluctuating Parkinson disease. Clin Neuropharmacol (2003) 0.75
Clinical reasoning: a 33-year-old woman with severe postpartum occipital headaches. Neurology (2012) 0.75