Published in Mov Disord on March 15, 2010
Quantifying physical decline in juvenile neuronal ceroid lipofuscinosis (Batten disease). Neurology (2011) 1.48
High-throughput immunoassay for the biochemical diagnosis of Friedreich ataxia in dried blood spots and whole blood. Clin Chem (2013) 1.39
A rapid, noninvasive immunoassay for frataxin: utility in assessment of Friedreich ataxia. Mol Genet Metab (2010) 1.32
Common data elements for clinical research in Friedreich's ataxia. Mov Disord (2012) 1.14
Assessment of neurological efficacy of idebenone in pediatric patients with Friedreich's ataxia: data from a 6-month controlled study followed by a 12-month open-label extension study. J Neurol (2011) 0.93
Ophthalmic features of Friedreich ataxia. Eye (Lond) (2011) 0.90
Friedreich ataxia clinical outcome measures: natural history evaluation in 410 participants. J Child Neurol (2012) 0.89
Development of frataxin gene expression measures for the evaluation of experimental treatments in Friedreich's ataxia. PLoS One (2013) 0.89
Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxia. Hum Mol Genet (2014) 0.86
An open-label trial in Friedreich ataxia suggests clinical benefit with high-dose resveratrol, without effect on frataxin levels. J Neurol (2015) 0.84
Mitochondrial disorders in children: toward development of small-molecule treatment strategies. EMBO Mol Med (2016) 0.84
Analysis of the visual system in Friedreich ataxia. J Neurol (2013) 0.83
Progression of Friedreich ataxia: quantitative characterization over 5 years. Ann Clin Transl Neurol (2016) 0.80
Frataxin levels in peripheral tissue in Friedreich ataxia. Ann Clin Transl Neurol (2015) 0.80
Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich's ataxia. Dis Model Mech (2012) 0.79
Longitudinal change in dysarthria associated with Friedreich ataxia: a potential clinical endpoint. J Neurol (2012) 0.77
Anaesthesia for a patient with Friedreich's ataxia. Indian J Anaesth (2011) 0.75
Degenerative Ataxias: challenges in clinical research. Ann Clin Transl Neurol (2016) 0.75
Functional and Gait Assessment in Children and Adolescents Affected by Friedreich's Ataxia: A One-Year Longitudinal Study. PLoS One (2016) 0.75
How does performance of the Friedreich Ataxia Functional Composite compare to rating scales? J Neurol (2017) 0.75
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science (1996) 11.59
Clinical and genetic abnormalities in patients with Friedreich's ataxia. N Engl J Med (1996) 6.57
Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features. Brain (1981) 5.19
Measuring Friedreich ataxia: complementary features of examination and performance measures. Neurology (2006) 2.17
The natural history of degenerative ataxia: a retrospective study in 466 patients. Brain (1998) 2.11
Friedreich ataxia: effects of genetic understanding on clinical evaluation and therapy. Arch Neurol (2002) 2.05
Oxidative stress in patients with Friedreich ataxia. Neurology (2000) 2.03
Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes. Ann Neurol (1999) 2.02
Neurological effects of high-dose idebenone in patients with Friedreich's ataxia: a randomised, placebo-controlled trial. Lancet Neurol (2007) 1.64
Molecular pathogenesis of Friedreich ataxia. Arch Neurol (1999) 1.62
Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat. Am J Hum Genet (1997) 1.53
Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion. Am J Hum Genet (1997) 1.27
How is disease progress in Friedreich's ataxia best measured? A study of four rating scales. J Neurol Neurosurg Psychiatry (2006) 1.05
Antioxidant use in Friedreich ataxia. J Neurol Sci (2007) 0.95
Molecular genetics of the hereditary ataxias. Adv Genet (1998) 0.85
Increased serum transferrin receptor concentrations in Friedreich ataxia. Ann Neurol (2000) 0.84
Anti-NMDA-receptor encephalitis: case series and analysis of the effects of antibodies. Lancet Neurol (2008) 21.53
Paraneoplastic anti-N-methyl-D-aspartate receptor encephalitis associated with ovarian teratoma. Ann Neurol (2007) 16.81
Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis in children and adolescents. Ann Neurol (2009) 9.25
Cellular and synaptic mechanisms of anti-NMDA receptor encephalitis. J Neurosci (2010) 6.44
Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies. Nature (2002) 5.21
Relation of visual function to retinal nerve fiber layer thickness in multiple sclerosis. Ophthalmology (2006) 4.72
A patient with encephalitis associated with NMDA receptor antibodies. Nat Clin Pract Neurol (2007) 4.63
International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome. The Ataxia Neuropharmacology Committee of the World Federation of Neurology. J Neurol Sci (1997) 4.50
AMPA receptor antibodies in limbic encephalitis alter synaptic receptor location. Ann Neurol (2009) 4.49
Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease. JAMA (2006) 4.26
Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. Cell (2001) 4.25
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet (1997) 4.12
Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3. Neuron (1997) 3.73
Primary retinal pathology in multiple sclerosis as detected by optical coherence tomography. Brain (2011) 3.48
N-methyl-D-aspartate receptor subtypes: multiple roles in excitotoxicity and neurological disease. Neuroscientist (2005) 3.11
Longitudinal study of vision and retinal nerve fiber layer thickness in multiple sclerosis. Ann Neurol (2010) 2.96
Delayed diagnosis in duchenne muscular dystrophy: data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet). J Pediatr (2009) 2.90
Microcystic macular oedema, thickness of the inner nuclear layer of the retina, and disease characteristics in multiple sclerosis: a retrospective study. Lancet Neurol (2012) 2.79
Ganglion cell loss in relation to visual disability in multiple sclerosis. Ophthalmology (2012) 2.48
Profiles of obesity, weight gain, and quality of life in idiopathic intracranial hypertension (pseudotumor cerebri). Am J Ophthalmol (2007) 2.44
The King-Devick test and sports-related concussion: study of a rapid visual screening tool in a collegiate cohort. J Neurol Sci (2011) 2.43
In vivo identification of morphologic retinal abnormalities in neuromyelitis optica. Neurology (2013) 2.43
RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia. Proc Natl Acad Sci U S A (2013) 2.31
Hereditary cerebellar ataxia progressively impairs force adaptation during goal-directed arm movements. J Neurophysiol (2003) 2.26
Clinical features and molecular genetics of autosomal recessive cerebellar ataxias. Lancet Neurol (2007) 2.24
Relationships between retinal axonal and neuronal measures and global central nervous system pathology in multiple sclerosis. JAMA Neurol (2013) 2.22
Optical coherence tomography: a window into the mechanisms of multiple sclerosis. Nat Clin Pract Neurol (2008) 2.20
Subcutaneous IGF-1 is not beneficial in 2-year ALS trial. Neurology (2008) 2.17
Measuring Friedreich ataxia: complementary features of examination and performance measures. Neurology (2006) 2.17
Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. Cell Rep (2011) 2.17
Active MS is associated with accelerated retinal ganglion cell/inner plexiform layer thinning. Neurology (2013) 2.06
Friedreich ataxia: effects of genetic understanding on clinical evaluation and therapy. Arch Neurol (2002) 2.05
ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. Am J Hum Genet (2008) 2.04
Laser pointer visual field screening. J Neuroophthalmol (2003) 2.03
The E46K mutation in alpha-synuclein increases amyloid fibril formation. J Biol Chem (2005) 1.98
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. Nat Genet (2012) 1.93
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. Hum Mutat (2009) 1.88
Unpaired structures in SCA10 (ATTCT)n.(AGAAT)n repeats. J Mol Biol (2003) 1.87
Macular volume determined by optical coherence tomography as a measure of neuronal loss in multiple sclerosis. Arch Neurol (2009) 1.85
Fyn-mediated phosphorylation of NR2B Tyr-1336 controls calpain-mediated NR2B cleavage in neurons and heterologous systems. J Biol Chem (2007) 1.84
FXN methylation predicts expression and clinical outcome in Friedreich ataxia. Ann Neurol (2012) 1.83
Anti-NMDA receptor encephalitis antibody binding is dependent on amino acid identity of a small region within the GluN1 amino terminal domain. J Neurosci (2012) 1.82
Retinal nerve fiber layer thickness in children with optic pathway gliomas. Am J Ophthalmol (2011) 1.80
Muscleblind-like 2-mediated alternative splicing in the developing brain and dysregulation in myotonic dystrophy. Neuron (2012) 1.78
MBNL1 and CUGBP1 modify expanded CUG-induced toxicity in a Drosophila model of myotonic dystrophy type 1. Hum Mol Genet (2006) 1.77
Inactivation of hnRNP K by expanded intronic AUUCU repeat induces apoptosis via translocation of PKCdelta to mitochondria in spinocerebellar ataxia 10. PLoS Genet (2010) 1.76
Genetic testing and risk assessment for spinal muscular atrophy (SMA). Hum Genet (2002) 1.68
Validation and test characteristics of a 10-item neuro-ophthalmic supplement to the NEI-VFQ-25. Am J Ophthalmol (2006) 1.66
Antigliadin antibodies in Huntington's disease. Neurology (2004) 1.64
LTBP4 genotype predicts age of ambulatory loss in Duchenne muscular dystrophy. Ann Neurol (2013) 1.63
Myelin breakdown and iron changes in Huntington's disease: pathogenesis and treatment implications. Neurochem Res (2007) 1.63
Limb-girdle muscular dystrophy in the United States. J Neuropathol Exp Neurol (2006) 1.59
Minocycline in Huntington's disease: a pilot study. Mov Disord (2004) 1.59
Functional consequences of alpha-synuclein tyrosine nitration: diminished binding to lipid vesicles and increased fibril formation. J Biol Chem (2004) 1.58
Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome. Nat Genet (2002) 1.57
Optical coherence tomography (OCT): imaging the visual pathway as a model for neurodegeneration. Neurotherapeutics (2011) 1.57
Quantification of PCR bias caused by a single nucleotide polymorphism in SMN gene dosage analysis. J Mol Diagn (2002) 1.54
Near infrared muscle spectroscopy in patients with Friedreich's ataxia. Muscle Nerve (2002) 1.53
Clinical and genetic features of hearing loss in facioscapulohumeral muscular dystrophy. Neurology (2013) 1.53
Functional visual loss in idiopathic intracranial hypertension. Ophthalmology (2009) 1.51
Multifocal visual evoked potentials are influenced by variable contrast stimulation in MS. Neurology (2012) 1.51
Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1. Nat Genet (1995) 1.51
Standard mutation nomenclature in molecular diagnostics: practical and educational challenges. J Mol Diagn (2007) 1.50
Clinical feature profile of spinocerebellar ataxia type 1-8 predicts genetically defined subtypes. Mov Disord (2005) 1.49
Inverse correlation between SMN1 and SMN2 copy numbers: evidence for gene conversion from SMN2 to SMN1. Eur J Hum Genet (2003) 1.48
Alpha-synuclein-induced aggregation of cytoplasmic vesicles in Saccharomyces cerevisiae. Mol Biol Cell (2008) 1.48
Optic nerve head component responses of the multifocal electroretinogram in MS. Neurology (2013) 1.46
Pediatric optic neuritis and risk of multiple sclerosis: meta-analysis of observational studies. J AAPOS (2011) 1.45
Retinal pathology in multiple sclerosis: insight into the mechanisms of neuronal pathology. Brain (2010) 1.45
A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness. Nat Genet (1996) 1.45
Olfactory impairment in familial ataxias. J Neurol Neurosurg Psychiatry (2012) 1.44
The role of unilateral temporal artery biopsy. Ophthalmology (2003) 1.44
Damage to the optic radiation in multiple sclerosis is associated with retinal injury and visual disability. Arch Neurol (2009) 1.43
Effects of a functional COMT polymorphism on prefrontal cognitive function in patients with 22q11.2 deletion syndrome. Am J Psychiatry (2004) 1.43
Cytosolic catechols inhibit alpha-synuclein aggregation and facilitate the formation of intracellular soluble oligomeric intermediates. J Neurosci (2006) 1.43
Clinical measures of dysarthria in Friedreich Ataxia. Mov Disord (2010) 1.43
Exercise-induced left ventricular systolic dysfunction in women heterozygous for dystrophinopathy. J Am Soc Echocardiogr (2010) 1.43
An approach to the patient with late-onset cerebellar ataxia. Nat Clin Pract Neurol (2006) 1.40
Human immunodeficiency virus (HIV)-induced neurotoxicity: roles for the NMDA receptor subtypes. J Neurosci (2006) 1.39
High-throughput immunoassay for the biochemical diagnosis of Friedreich ataxia in dried blood spots and whole blood. Clin Chem (2013) 1.39
Molecular and clinical correlations in spinocerebellar ataxia type I: evidence for familial effects on the age at onset. Am J Hum Genet (1994) 1.38
The practice of science at its best. Fertil Steril (2003) 1.38
Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation. Am J Med Genet A (2006) 1.38
Novel mutations in the senataxin DNA/RNA helicase domain in ataxia with oculomotor apraxia 2. Neurology (2006) 1.37
Seizure-free outcome in randomized add-on trials of the new antiepileptic drugs. Epilepsia (2007) 1.37
Optic nerve biopsy in the management of progressive optic neuropathy. J Neuroophthalmol (2012) 1.37
Calpain and synaptic function. Mol Neurobiol (2006) 1.37
In vivo assessment of retinal neuronal layers in multiple sclerosis with manual and automated optical coherence tomography segmentation techniques. J Neurol (2012) 1.36
Isolated third, fourth, and sixth cranial nerve palsies from presumed microvascular versus other causes: a prospective study. Ophthalmology (2013) 1.36
New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN. Neurology (2012) 1.35
Dysfunction of the basal ganglia, but not the cerebellum, impairs kinaesthesia. Brain (2003) 1.35