Published in J Neurol Neurosurg Psychiatry on August 01, 2010
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Genome-wide association analysis of Sasang constitution in the Korean population. J Altern Complement Med (2012) 0.99
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Novel CACNA1A mutation(s) associated with slow saccade velocities. J Neurol (2013) 0.86
Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy. Am J Hum Genet (2015) 0.83
A novel frameshift mutation in FGF14 causes an autosomal dominant episodic ataxia. Neurogenetics (2015) 0.79
Abnormal synaptic Ca(2+) homeostasis and morphology in cortical neurons of familial hemiplegic migraine type 1 mutant mice. Ann Neurol (2015) 0.78
Next-generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2. Mol Genet Genomic Med (2016) 0.78
Familial hemiplegic migraine with prolonged coma and cerebellar atrophy: CACNA1A T666M mutation in a Korean family. J Korean Med Sci (2012) 0.75
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Intron size in mammals: complexity comes to terms with economy. Trends Genet (2006) 4.93
Cell therapy of alpha-sarcoglycan null dystrophic mice through intra-arterial delivery of mesoangioblasts. Science (2003) 3.21
Identification of a primitive brain-derived neural stem cell population based on aldehyde dehydrogenase activity. Stem Cells (2005) 2.67
Restoration of human dystrophin following transplantation of exon-skipping-engineered DMD patient stem cells into dystrophic mice. Cell Stem Cell (2007) 2.17
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Human circulating AC133(+) stem cells restore dystrophin expression and ameliorate function in dystrophic skeletal muscle. J Clin Invest (2004) 2.00
Parasites represent a major selective force for interleukin genes and shape the genetic predisposition to autoimmune conditions. J Exp Med (2009) 2.00
Intrathecal chemokine synthesis in mild cognitive impairment and Alzheimer disease. Arch Neurol (2006) 1.79
EMA must improve the quality of its clinical trial reports. BMJ (2011) 1.78
Level of NICU quality of developmental care and neurobehavioral performance in very preterm infants. Pediatrics (2012) 1.70
Vascular endothelial growth factor gene variability is associated with increased risk for AD. Ann Neurol (2005) 1.66
Silencer elements as possible inhibitors of pseudoexon splicing. Nucleic Acids Res (2004) 1.65
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome. PLoS Genet (2011) 1.60
Beta-lactam antibiotic offers neuroprotection in a spinal muscular atrophy model by multiple mechanisms. Exp Neurol (2011) 1.59
Cholestenoic acids regulate motor neuron survival via liver X receptors. J Clin Invest (2014) 1.55
Intrathecal levels of IL-6, IL-11 and LIF in Alzheimer's disease and frontotemporal lobar degeneration. J Neurol (2008) 1.53
Serum MCP-1 levels are increased in mild cognitive impairment and mild Alzheimer's disease. Neurobiol Aging (2005) 1.52
Disorders of cognitive and affective development in cerebellar malformations. Brain (2007) 1.51
Genetic correction of human induced pluripotent stem cells from patients with spinal muscular atrophy. Sci Transl Med (2012) 1.44
The 129 codon polymorphism of the prion protein gene influences earlier cognitive performance in Down syndrome subjects. J Neurol (2003) 1.41
Widespread balancing selection and pathogen-driven selection at blood group antigen genes. Genome Res (2008) 1.40
Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients. Hum Mutat (2008) 1.39
Cognitive competence at the onset of West syndrome: correlation with EEG patterns and visual function. Dev Med Child Neurol (2005) 1.38
Neural stem cell transplantation can ameliorate the phenotype of a mouse model of spinal muscular atrophy. J Clin Invest (2008) 1.37
Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment. Eur J Hum Genet (2010) 1.36
Human skin-derived stem cells migrate throughout forebrain and differentiate into astrocytes after injection into adult mouse brain. J Neurosci Res (2004) 1.33
Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up. J Neurol (2011) 1.28
Imaging essential tremor. Mov Disord (2010) 1.27
Agenesis of the corpus callosum: clinical and genetic study in 63 young patients. Pediatr Neurol (2006) 1.27
Is everybody always my friend? Perception of approachability in Williams syndrome. Neuropsychologia (2005) 1.27
Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotype. Eur J Hum Genet (2008) 1.27
Direct reprogramming of human astrocytes into neural stem cells and neurons. Exp Cell Res (2012) 1.26
Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia. J Neurol (2008) 1.17
POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions. Hum Mutat (2003) 1.17
Neural stem cells LewisX+ CXCR4+ modify disease progression in an amyotrophic lateral sclerosis model. Brain (2007) 1.17
The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency. Am J Hum Genet (2009) 1.16
Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions. Brain (2012) 1.16
Transplanted ALDHhiSSClo neural stem cells generate motor neurons and delay disease progression of nmd mice, an animal model of SMARD1. Hum Mol Genet (2005) 1.16
Gait pattern in Duchenne muscular dystrophy. Gait Posture (2008) 1.16
Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis. J Neurol (2013) 1.16
Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI. Orphanet J Rare Dis (2012) 1.15
Isolation and characterization of murine neural stem/progenitor cells based on Prominin-1 expression. Exp Neurol (2007) 1.15
Analysis of intronic conserved elements indicates that functional complexity might represent a major source of negative selection on non-coding sequences. Hum Mol Genet (2005) 1.15
Oxidative imbalance in patients with mild cognitive impairment and Alzheimer's disease. Neurobiol Aging (2005) 1.15
Expression and genetic analysis of miRNAs involved in CD4+ cell activation in patients with multiple sclerosis. Neurosci Lett (2011) 1.15
Mitochondrial respiratory chain dysfunction in muscle from patients with amyotrophic lateral sclerosis. Arch Neurol (2010) 1.13
Early onset behavioral variant frontotemporal dementia due to the C9ORF72 hexanucleotide repeat expansion: psychiatric clinical presentations. J Alzheimers Dis (2012) 1.11
Embryonic stem cell-derived neural stem cells improve spinal muscular atrophy phenotype in mice. Brain (2009) 1.11
New mutations in TK2 gene associated with mitochondrial DNA depletion. Pediatr Neurol (2006) 1.11
Reliability and validity of the International Cooperative Ataxia Rating Scale: a study in 156 spinocerebellar ataxia patients. Mov Disord (2006) 1.10
Facial expression recognition in Williams syndrome. Neuropsychologia (2003) 1.10
Retrospective study of a large population of patients with asymptomatic or minimally symptomatic raised serum creatine kinase levels. J Neurol (2002) 1.09
Genetic diversity at endoplasmic reticulum aminopeptidases is maintained by balancing selection and is associated with natural resistance to HIV-1 infection. Hum Mol Genet (2010) 1.08
Magnetic resonance imaging assessment of brain maturation in preterm neonates with punctate white matter lesions. Neuroradiology (2006) 1.08
Generation of skeletal muscle cells from embryonic and induced pluripotent stem cells as an in vitro model and for therapy of muscular dystrophies. J Cell Mol Med (2012) 1.08
Induction of neurotrophin expression via human adult mesenchymal stem cells: implication for cell therapy in neurodegenerative diseases. Cell Transplant (2007) 1.07
Gene function and expression level influence the insertion/fixation dynamics of distinct transposon families in mammalian introns. Genome Biol (2006) 1.07
The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological function. Brain (2006) 1.07
Inclusion body myopathy and frontotemporal dementia caused by a novel VCP mutation. Neurobiol Aging (2007) 1.06
A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia. Hum Mutat (2008) 1.06
Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability. Am J Hum Genet (2013) 1.05
Population genetics of IFIH1: ancient population structure, local selection, and implications for susceptibility to type 1 diabetes. Mol Biol Evol (2010) 1.05
High tumor necrosis factor-alpha [corrected] levels in cerebrospinal fluid of cobalamin-deficient patients. Ann Neurol (2004) 1.04
Selective DNA methylation of BDNF promoter in bipolar disorder: differences among patients with BDI and BDII. Neuropsychopharmacology (2012) 1.04
Progranulin plasma levels as potential biomarker for the identification of GRN deletion carriers. A case with atypical onset as clinical amnestic Mild Cognitive Impairment converted to Alzheimer's disease. J Neurol Sci (2009) 1.03
A novel mutation in the β-tubulin gene TUBB2B associated with complex malformation of cortical development and deficits in axonal guidance. Dev Med Child Neurol (2012) 1.03
Mitochondrial fusion proteins and human diseases. Neurol Res Int (2013) 1.02
Both selective and neutral processes drive GC content evolution in the human genome. BMC Evol Biol (2008) 1.02
MCP-1 in Alzheimer's disease patients: A-2518G polymorphism and serum levels. Neurobiol Aging (2004) 1.02
The low-affinity receptor for neurotrophins p75NTR plays a key role for satellite cell function in muscle repair acting via RhoA. Mol Biol Cell (2009) 1.02
Muscle coenzyme Q10 level in statin-related myopathy. Arch Neurol (2005) 1.01
A new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with early lethality. Pediatr Res (2004) 1.01
Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions. Eur J Hum Genet (2010) 1.00
Rs5848 variant influences GRN mRNA levels in brain and peripheral mononuclear cells in patients with Alzheimer's disease. J Alzheimers Dis (2009) 1.00
Measuring maternal stress and perceived support in 25 Italian NICUs. Acta Paediatr (2011) 0.99
Is M129V of PRNP gene associated with Alzheimer's disease? A case-control study and a meta-analysis. Neurobiol Aging (2005) 0.99
The landscape of human genes involved in the immune response to parasitic worms. BMC Evol Biol (2010) 0.99
Skeletal muscle gene expression profiling in mitochondrial disorders. FASEB J (2005) 0.98
Absence of TREM2 polymorphisms in patients with Alzheimer's disease and Frontotemporal Lobar Degeneration. Neurosci Lett (2006) 0.98
Diverse evolutionary histories for beta-adrenoreceptor genes in humans. Am J Hum Genet (2009) 0.98
Production of monocyte chemoattractant protein-1 in amyotrophic lateral sclerosis. Muscle Nerve (2005) 0.97
Evidence and age-related distribution of mtDNA D-loop point mutations in skeletal muscle from healthy subjects and mitochondrial patients. J Neurol Sci (2002) 0.97
Phenotypic heterogeneity of the GRN Asp22fs mutation in a large Italian kindred. J Alzheimers Dis (2011) 0.97
Role of hnRNP-A1 and miR-590-3p in neuronal death: genetics and expression analysis in patients with Alzheimer disease and frontotemporal lobar degeneration. Rejuvenation Res (2011) 0.97
Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients. Neuromuscul Disord (2012) 0.96
Decreased circulating miRNA levels in patients with primary progressive multiple sclerosis. Mult Scler (2013) 0.96
Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies. Hum Mutat (2005) 0.96
Patterns of damage in the mature neonatal brain. Pediatr Radiol (2006) 0.96