Published in Curr Opin Neurol on August 01, 2016
ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients. Parkinsonism Relat Disord (2017) 0.75
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron (2011) 20.15
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron (2011) 18.73
The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease. Nat Genet (1993) 5.82
Huntington's disease: from molecular pathogenesis to clinical treatment. Lancet Neurol (2011) 4.98
A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length. Clin Genet (2004) 4.73
Mutations in GNAL cause primary torsion dystonia. Nat Genet (2012) 3.66
Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nat Genet (1994) 3.17
Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease. Nat Genet (2001) 3.15
CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion. Neurology (2012) 3.12
ADCY5 mutations are another cause of benign hereditary chorea. Neurology (2015) 3.04
FOXG1 is responsible for the congenital variant of Rett syndrome. Am J Hum Genet (2008) 2.65
The phenotypic spectrum of SCN8A encephalopathy. Neurology (2015) 2.12
Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency. J Clin Invest (2002) 2.09
Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene. J Neurol Neurosurg Psychiatry (2012) 1.94
Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients. Brain (2009) 1.91
Mutations in TITF-1 are associated with benign hereditary chorea. Hum Mol Genet (2002) 1.69
A conserved sorting-associated protein is mutant in chorea-acanthocytosis. Nat Genet (2001) 1.69
A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2. Nat Genet (2001) 1.56
Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination. N Engl J Med (2013) 1.56
Genotype-phenotype relationships in ataxia-telangiectasia and variants. Am J Hum Genet (1998) 1.55
Dentatorubral and pallidoluysian atrophy (DRPLA). Clinical and neuropathological findings in genetically confirmed North American and European pedigrees. Mov Disord (1997) 1.49
Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia. Ann Neurol (2014) 1.47
Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5. Arch Neurol (2012) 1.46
Ataxia without telangiectasia masquerading as benign hereditary chorea. Mov Disord (1996) 1.45
Identification of Genetic Factors that Modify Clinical Onset of Huntington's Disease. Cell (2015) 1.33
De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy. Am J Hum Genet (2013) 1.27
Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes. Brain (2003) 1.26
ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations. Neurology (2015) 1.23
A de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia. Mov Disord (2014) 1.22
Striatal microcircuitry and movement disorders. Trends Neurosci (2012) 1.22
Neurologic phenotypes associated with acanthocytosis. Neurology (2007) 1.20
Current landscape of phosphodiesterase 10A (PDE10A) inhibition. J Med Chem (2012) 1.20
Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites. Neurology (2012) 1.17
ADCY5 mutations are another cause of benign hereditary chorea. Neurology (2016) 1.08
Phenotypic insights into ADCY5-associated disease. Mov Disord (2016) 1.06
C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies. Neurology (2013) 1.06
Huntington disease phenocopy is a familial prion disease. Am J Hum Genet (2001) 1.04
Identification of a specific assembly of the g protein golf as a critical and regulated module of dopamine and adenosine-activated cAMP pathways in the striatum. Front Neuroanat (2011) 1.01
Expanding the phenomenology of benign hereditary chorea: evolution from chorea to myoclonus and dystonia. Mov Disord (2011) 1.01
Benign Hereditary Chorea: An Update. Tremor Other Hyperkinet Mov (N Y) (2015) 1.00
ADCY5 mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias. Mov Disord (2015) 0.99
Huntington's disease phenocopies are clinically and genetically heterogeneous. Mov Disord (2008) 0.99
Clinical differentiation of genetically proven benign hereditary chorea and myoclonus-dystonia. Mov Disord (2007) 0.99
Benign hereditary chorea: an update. Parkinsonism Relat Disord (2011) 0.96
Mismatch repair genes Mlh1 and Mlh3 modify CAG instability in Huntington's disease mice: genome-wide and candidate approaches. PLoS Genet (2013) 0.95
Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum. J Med Genet (2014) 0.94
Clinical and genetic heterogeneity in benign hereditary chorea. Neurology (2002) 0.93
Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling. J Clin Invest (2015) 0.91
Genetic modifiers of Huntington's disease. Mov Disord (2014) 0.91
Benign hereditary chorea revisited: a journey to understanding. Mov Disord (2007) 0.91
RNF216 mutations as a novel cause of autosomal recessive Huntington-like disorder. Neurology (2015) 0.90
Diagnosis and treatment of chorea syndromes. Curr Neurol Neurosci Rep (2015) 0.90
The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia. Neurology (2014) 0.88
Mutations in TITF1 are not relevant to sporadic and familial chorea of unknown cause. Mov Disord (2006) 0.87
A novel de novo mutation of the TITF1/NKX2-1 gene causing ataxia, benign hereditary chorea, hypothyroidism and a pituitary mass in a UK family and review of the literature. Cerebellum (2014) 0.87
Friedreich's ataxia with chorea and myoclonus caused by a compound heterozygosity for a novel deletion and the trinucleotide GAA expansion. Mov Disord (2002) 0.86
Ataxia telangiectasia presenting as dopa-responsive cervical dystonia. Neurology (2013) 0.86
The differential diagnosis of Huntington's disease-like syndromes: 'red flags' for the clinician. J Neurol Neurosurg Psychiatry (2012) 0.86
De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions. Am J Hum Genet (2016) 0.86
Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation. Ann Neurol (2016) 0.84
Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay. Eur J Hum Genet (2015) 0.83
Generalized chorea in two patients harboring the Friedreich's ataxia gene trinucleotide repeat expansion. Mov Disord (1998) 0.83
Genetic screening of Greek patients with Huntington’s disease phenocopies identifies an SCA8 expansion. J Neurol (2012) 0.83
A SNP in the HTT promoter alters NF-κB binding and is a bidirectional genetic modifier of Huntington disease. Nat Neurosci (2015) 0.82
Expanding the ataxia with oculomotor apraxia type 4 phenotype. Neurol Genet (2016) 0.81
Myoclonic head jerks and extensor axial dystonia in the variant form of ataxia telangiectasia. Parkinsonism Relat Disord (2013) 0.81
Clinical Course of Six Children With GNAO1 Mutations Causing a Severe and Distinctive Movement Disorder. Pediatr Neurol (2016) 0.81
Deleterious mutation in GPR88 is associated with chorea, speech delay, and learning disabilities. Neurol Genet (2016) 0.80
Primary familial brain calcification with known gene mutations: a systematic review and challenges of phenotypic characterization. JAMA Neurol (2015) 0.80
Variant ataxia telangiectasia: clinical and molecular findings and evaluation of radiosensitive phenotypes in a patient and relatives. Neuromolecular Med (2013) 0.79
C9ORF72 hexanucleotide repeat expansions are a frequent cause of Huntington disease phenocopies in the Greek population. Neurobiol Aging (2014) 0.79
Very mild presentation in adult with classical cellular phenotype of ataxia telangiectasia. Mov Disord (2012) 0.78
Junctophilin 3 (JPH3) expansion mutations causing Huntington disease like 2 (HDL2) are common in South African patients with African ancestry and a Huntington disease phenotype. Am J Med Genet B Neuropsychiatr Genet (2015) 0.78
Nigrostriatal involvement in ataxia with oculomotor apraxia type 1. J Neurol (2007) 0.78
Progressive Movement Disorder in Brothers Carrying a GNAO1 Mutation Responsive to Deep Brain Stimulation. J Child Neurol (2015) 0.78
C9orf72 expansion as a possible genetic cause of Huntington disease phenocopy syndrome. J Neurol (2014) 0.78
Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype. J Hum Genet (2006) 0.77
Myoclonus in ataxia-telangiectasia. Tremor Other Hyperkinet Mov (N Y) (2015) 0.77
Yugoslav HD phenocopies analyzed on the presence of mutations in PrP, ferritin, and Jp-3 genes. Int J Neurosci (2005) 0.76
Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy. Am J Hum Genet (2016) 0.76
Delineation of the movement disorders associated with FOXG1 mutations. Neurology (2016) 0.76
Novel ATM mutation in a German patient presenting as generalized dystonia without classical signs of ataxia-telangiectasia. J Neurol (2015) 0.76
Benign hereditary chorea related to NKX2-1 with ataxia and dystonia. Neurol Genet (2015) 0.76
Immunity and inflammation in neurodegenerative diseases. Am J Neurodegener Dis (2013) 1.08
Osteopontin is increased in the cerebrospinal fluid of patients with Alzheimer's disease and its levels correlate with cognitive decline. J Alzheimers Dis (2010) 1.01
The syndrome of deafness-dystonia: clinical and genetic heterogeneity. Mov Disord (2013) 1.01
Phenotypic heterogeneity of the GRN Asp22fs mutation in a large Italian kindred. J Alzheimers Dis (2011) 0.97
Movement disorders in adult patients with classical galactosemia. Mov Disord (2013) 0.91
Levodopa-induced belly dancer's dyskinesias in Parkinson's disease: report of one case. Mov Disord (2010) 0.81
Atypical parkinsonism with apraxia and supranuclear gaze abnormalities in type 1 Gaucher disease. Expanding the spectrum: case report and literature review. Mov Disord (2010) 0.80
Early onset frontotemporal dementia with psychiatric presentation due to the C9ORF72 hexanucleotide repeat expansion: a case report. BMC Neurol (2014) 0.79
Defective Fas-mediated T-cell apoptosis predicts acute onset CIDP. J Peripher Nerv Syst (2009) 0.78