Published in J Neurosurg on August 01, 2004
Deep brain stimulation. Annu Rev Neurosci (2006) 2.65
Treatment of dystonia with deep brain stimulation. Neurotherapeutics (2008) 1.50
Research priorities in spasmodic dysphonia. Otolaryngol Head Neck Surg (2008) 1.31
Dystonia rating scales: critique and recommendations. Mov Disord (2013) 1.17
Induction of bradykinesia with pallidal deep brain stimulation in patients with cranial-cervical dystonia. Stereotact Funct Neurosurg (2009) 1.00
Effect of electrode contact location on clinical efficacy of pallidal deep brain stimulation in primary generalised dystonia. J Neurol Neurosurg Psychiatry (2007) 0.94
Deep brain stimulation for torsion dystonia in children. Childs Nerv Syst (2007) 0.94
The effect of deep brain stimulation on quality of life in movement disorders. J Neurol Neurosurg Psychiatry (2005) 0.94
Deep brain stimulation suppresses pallidal low frequency activity in patients with phasic dystonic movements. Brain (2014) 0.92
Treatment of dystonia. Neurotherapeutics (2014) 0.91
Deep brain stimulation for dystonia: outcome at long-term follow-up. J Neurol (2008) 0.90
Deep-Brain Stimulation for Basal Ganglia Disorders. Basal Ganglia (2011) 0.89
Deep brain stimulation for movement disorders. Neurotherapeutics (2014) 0.89
Deep brain stimulation: are astrocytes a key driver behind the scene? CNS Neurosci Ther (2014) 0.86
Disrupting neuronal transmission: mechanism of DBS? Front Syst Neurosci (2014) 0.84
Patterns of reoccurrence of segmental dystonia after discontinuation of deep brain stimulation. J Neurol Neurosurg Psychiatry (2006) 0.82
Stereotactic model of the electrical distribution within the internal globus pallidus during deep brain stimulation. J Comput Neurosci (2008) 0.81
Improvement of Isolated Myoclonus Phenotype in Myoclonus Dystonia after Pallidal Deep Brain Stimulation. Tremor Other Hyperkinet Mov (N Y) (2016) 0.81
Treating complex movement disorders in children with cerebral palsy. Ulster Med J (2009) 0.80
Time and frequency-dependent modulation of local field potential synchronization by deep brain stimulation. PLoS One (2014) 0.79
Current and future medical treatment in primary dystonia. Ther Adv Neurol Disord (2012) 0.79
Battery life following pallidal deep brain stimulation (DBS) in children and young people with severe primary and secondary dystonia. Childs Nerv Syst (2012) 0.79
Deep brain stimulation for dystonia: a novel perspective on the value of genetic testing. J Neural Transm (Vienna) (2017) 0.79
Current and emerging strategies for treatment of childhood dystonia. J Hand Ther (2014) 0.79
Effects of pulse width variations in pallidal stimulation for primary generalized dystonia. J Neurol (2007) 0.78
An evaluation of rating scales utilized for deep brain stimulation for dystonia. J Neurol (2009) 0.76
Differences in globus pallidus neuronal firing rates and patterns relate to different disease biology in children with dystonia. J Neurol Neurosurg Psychiatry (2016) 0.76
Treatment of classic pantothenate kinase-associated neurodegeneration with deferiprone and intrathecal baclofen. Am J Phys Med Rehabil (2013) 0.76
Automatic target validation based on neuroscientific literature mining for tractography. Front Neuroanat (2015) 0.76
Deep Brain Stimulation: Expanding Applications. Neurol Med Chir (Tokyo) (2015) 0.75
Network effects of deep brain stimulation. J Neurophysiol (2015) 0.75
Deep brain stimulation in childhood: an effective treatment for early onset idiopathic generalised dystonia. Arch Dis Child (2007) 0.75
The Most Cited Works in Essential Tremor and Dystonia. Tremor Other Hyperkinet Mov (N Y) (2016) 0.75
Deep brain stimulation of globus pallidus internus for DYT1 positive primary generalized dystonia. Med J Islam Repub Iran (2014) 0.75
Deep Brain Stimulation of the Globus Pallidus in a 7-Year-Old Girl with DYT1 Generalized Dystonia. J Korean Neurosurg Soc (2012) 0.75
Long-Term Clinical Outcome of Internal Globus Pallidus Deep Brain Stimulation for Dystonia. PLoS One (2016) 0.75
Pregnancy and Delivery in a Generalized Dystonia Patient Treated with Internal Globus Pallidal Deep Brain Stimulation: a Case Report. J Korean Med Sci (2017) 0.75
Long-term effect on dystonia after pallidal deep brain stimulation (DBS) in three members of a family with a THAP1 mutation. J Neurol (2015) 0.75
Long-term results of deep brain stimulation in a cohort of eight children with isolated dystonia. J Neurol (2016) 0.75
Intractable Blepharospasm Treated with Bilateral Pallidal Deep Brain Stimulation. Tremor Other Hyperkinet Mov (N Y) (2017) 0.75
Human Splicing Finder: an online bioinformatics tool to predict splicing signals. Nucleic Acids Res (2009) 10.08
Heterozygous TGFBR2 mutations in Marfan syndrome. Nat Genet (2004) 6.15
Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase. Hum Mutat (2009) 2.93
Planning the human variome project: the Spain report. Hum Mutat (2009) 2.22
Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. Cell Rep (2011) 2.17
Locus-specific mutation databases: pitfalls and good practice based on the p53 experience. Nat Rev Cancer (2006) 2.05
Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations. Eur J Hum Genet (2008) 2.01
Recommendations of the 2006 Human Variome Project meeting. Nat Genet (2007) 1.90
Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy. Hum Mutat (2007) 1.89
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome. J Clin Invest (2010) 1.85
Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign. Am J Hum Genet (2003) 1.81
The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia. Hum Mutat (2013) 1.78
Disuniting uniformity: a pied cladistic canvas of mtDNA haplogroup H in Eurasia. Mol Biol Evol (2004) 1.74
Pallidal stimulation improves pantothenate kinase-associated neurodegeneration. Ann Neurol (2005) 1.74
Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease. Hum Mutat (2009) 1.71
Cardiovascular manifestations in men and women carrying a FBN1 mutation. Eur Heart J (2010) 1.68
Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations. Pediatrics (2009) 1.67
Deep brain stimulation for dystonia confirming a somatotopic organization in the globus pallidus internus. J Neurosurg (2004) 1.65
UMD (Universal Mutation Database): 2005 update. Hum Mutat (2005) 1.52
Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation. Am J Hum Genet (2003) 1.52
Haplotype block structure study of the CFTR gene. Most variants are associated with the M470 allele in several European populations. Eur J Hum Genet (2006) 1.51
Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients. Hum Mutat (2007) 1.48
Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome. Hum Mutat (2010) 1.48
A classification model relative to splicing for variants of unknown clinical significance: application to the CFTR gene. Hum Mutat (2013) 1.47
Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots. Hum Mutat (2014) 1.45
Acute-onset chorea, dystonia, and cardiac fibroelastoma in a child: a paraneoplastic association? Mov Disord (2012) 1.44
UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity -- application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2. Hum Mutat (2009) 1.40
Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy. Hum Mutat (2011) 1.36
A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect? Eur J Hum Genet (2002) 1.34
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy. Eur J Hum Genet (2008) 1.34
Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy. Am J Hum Genet (2002) 1.28
The UMD TP53 database and website: update and revisions. Hum Mutat (2006) 1.26
Molecular epidemiology of DFNB1 deafness in France. BMC Med Genet (2004) 1.24
UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes. Hum Mutat (2008) 1.24
Early onset collagen VI myopathies: Genetic and clinical correlations. Ann Neurol (2010) 1.21
Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders. Circulation (2009) 1.21
Meta-analysis of the p53 mutation database for mutant p53 biological activity reveals a methodologic bias in mutation detection. Clin Cancer Res (2006) 1.19
Non-USH2A mutations in USH2 patients. Hum Mutat (2012) 1.17
Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders. Hum Mutat (2008) 1.14
Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression. Hum Mol Genet (2009) 1.13
A genome-wide analysis identifies genetic variants in the RELN gene associated with otosclerosis. Am J Hum Genet (2009) 1.11
The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations. Hum Mutat (2009) 1.11
Deep brain stimulation in movement disorders: stereotactic coregistration of two-dimensional electrical field modeling and magnetic resonance imaging. J Neurosurg (2005) 1.11
Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing. Orphanet J Rare Dis (2013) 1.11
Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project. Genet Med (2009) 1.10
Large genomic rearrangements within the PCDH15 gene are a significant cause of USH1F syndrome. Mol Vis (2007) 1.09
Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene. Eur J Hum Genet (2009) 1.09
Motor and respiratory heterogeneity in Duchenne patients: implication for clinical trials. Eur J Paediatr Neurol (2011) 1.08
DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene. Hum Mutat (2011) 1.08
The coding polymorphism T263I in TGF-beta1 is associated with otosclerosis in two independent populations. Hum Mol Genet (2007) 1.08
Association of bone morphogenetic proteins with otosclerosis. J Bone Miner Res (2008) 1.07
Evolution of brain impedance in dystonic patients treated by GPI electrical stimulation. Neuromodulation (2004) 1.07
Deep brain stimulation in myoclonus-dystonia syndrome. Mov Disord (2004) 1.06
An mtDNA perspective of French genetic variation. Ann Hum Biol (2007) 1.04
Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year. Pediatr Res (2011) 1.04
Four-year follow-up of diagnostic service in USH1 patients. Invest Ophthalmol Vis Sci (2011) 1.03
CFTR genotypes in patients with normal or borderline sweat chloride levels. Hum Mutat (2003) 1.02
Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy. Hum Mutat (2003) 1.02
Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes. Hum Mutat (2010) 1.01
Benign paroxysmal tonic upgaze, benign paroxysmal torticollis, episodic ataxia and CACNA1A mutation in a family. J Neurol (2008) 1.00
Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy. Ann Neurol (2012) 1.00
A new autosomal recessive non-progressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) maps to chromosome 15q24-q26 in a large consanguineous Lebanese Druze Family. Neurogenetics (2002) 0.99
Long-term follow-up of DYT1 dystonia patients treated by deep brain stimulation: an open-label study. Mov Disord (2010) 0.96
Binding of serum response factor to cystic fibrosis transmembrane conductance regulator CArG-like elements, as a new potential CFTR transcriptional regulation pathway. Nucleic Acids Res (2005) 0.96
A T3 allele in the CFTR gene exacerbates exon 9 skipping in vas deferens and epididymal cell lines and is associated with Congenital Bilateral Absence of Vas Deferens (CBAVD). Hum Mutat (2005) 0.95
Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay. BMC Genet (2003) 0.95
Mutation spectrum leading to an attenuated phenotype in dystrophinopathies. Eur J Hum Genet (2005) 0.95
Variants in CFTR untranslated regions are associated with congenital bilateral absence of the vas deferens. J Med Genet (2010) 0.95
Exon skipping-mediated dystrophin reading frame restoration for small mutations. Hum Mutat (2009) 0.94
Value of 2 IgG avidity commercial tests used alone or in association to date toxoplasmosis contamination. Diagn Microbiol Infect Dis (2009) 0.93
Are preoperative patterns of alcohol consumption predictive of relapse after liver transplantation for alcoholic liver disease? Transpl Int (2005) 0.93
Factors predicting improvement in primary generalized dystonia treated by pallidal deep brain stimulation. Mov Disord (2009) 0.93
Brain mapping in stereotactic surgery: a brief overview from the probabilistic targeting to the patient-based anatomic mapping. Neuroimage (2007) 0.93
De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome. Eur J Med Genet (2010) 0.92
Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndrome. Eur J Hum Genet (2009) 0.92
Heterochromatic genes undergo epigenetic changes and escape silencing in immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome. PLoS One (2011) 0.91
Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A. Hum Mutat (2014) 0.90
Cerebrospinal fluid analysis in the diagnosis and treatment of arterial ischemic stroke. Pediatr Neurol (2008) 0.90
Large genomic rearrangements in the CFTR gene contribute to CBAVD. BMC Med Genet (2007) 0.90
A recurrent deep-intronic splicing CF mutation emphasizes the importance of mRNA studies in clinical practice. J Cyst Fibros (2011) 0.90
First determination of the incidence of the unique TOR1A gene mutation, c.907delGAG, in a Mediterranean population. Mov Disord (2007) 0.89
The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centre. Neuromuscul Disord (2004) 0.89
Shaping reversibility? Long-term deep brain stimulation in dystonia: the relationship between effects on electrophysiology and clinical symptoms. Brain (2011) 0.89
Benign paroxysmal vertigo of childhood: long-term outcome. Cephalalgia (2010) 0.89
Long-term follow-up of Huntington disease treated by bilateral deep brain stimulation of the internal globus pallidus. J Neurosurg (2008) 0.88
Deep brain stimulation for dystonia. Surgical technique. Stereotact Funct Neurosurg (2002) 0.88