Generation of an induced pluripotent stem cell line (CSC-44) from a Parkinson's disease patient carrying a compound heterozygous mutation (c.823CÂ >Â T and EX6 del) in the PARK2 gene Fulltext Access 5 Pages 2018
Comparison of the detectability of UBOs in Neurofibromatosis Type I patients with proton density-weighted and FLAIR sequences in 3T MRI Fulltext Access 5 Pages 2018
A patient with early myoclonic encephalopathy (EME) with a de novo KCNQ2 mutation Fulltext Access 5 Pages 2018
Epileptic apnea in a patient with inherited glycosylphosphatidylinositol anchor deficiency and PIGT mutations Fulltext Access 5 Pages 2018
Slowly progressive leukodystrophy in an adolescent male with phosphoglycerate kinase deficiency Fulltext Access 5 Pages 2018
Infantile hypophosphatasia combined with vitamin B6-responsive seizures and reticular formation lesions on magnetic resonance imaging: A case report Fulltext Access 5 Pages 2018
Effect of amino acid substitution of CAPRICE on cell-to-cell movement ability in Arabidopsis root epidermis Fulltext Access 5 Pages 2018
Generation of human induced pluripotent stem cells (EURACi001-A, EURACi002-A, EURACi003-A) from peripheral blood mononuclear cells of three patients carrying mutations in the CAV3 gene Fulltext Access 5 Pages 2018
A homozygous p53 R282W mutant human embryonic stem cell line generated using TALEN-mediated precise gene editing Fulltext Access 5 Pages 2018
Generation of 2 induced pluripotent stem cell lines derived from patients with Parkinson's disease carrying LRRK2 G2385R variant Fulltext Access 5 Pages 2018
Generation of a luciferase-expressing human embryonic stem cell line: NERCe002-A-2 Fulltext Access 5 Pages 2018
Generation of an induced pluripotent stem cell (iPSC) line from a 40-year-old patient with the A8344G mutation of mitochondrial DNA and MERRF (myoclonic epilepsy with ragged red fibers) syndrome Fulltext Access 5 Pages 2018
Generation of a SMO homozygous knockout human embryonic stem cell line WAe001-A-16 by CRISPR/Cas9 editing Fulltext Access 5 Pages 2018
Generation of a human induced pluripotent stem cell (iPSC) line from a 51-year-old female with attention-deficit/hyperactivity disorder (ADHD) carrying a duplication of SLC2A3 Fulltext Access 5 Pages 2018
Generation of a human iPSC line, IISHDOi002-A, with a 46, XY/47, XYY mosaicism and belonging to an African mitochondrial haplogroup Fulltext Access 5 Pages 2018
Generation of novel induced pluripotent stem cell (iPSC) line from a 16-year-old sialidosis patient with NEU-1 gene mutation Fulltext Access 5 Pages 2018
Generation of an induced pluripotent stem cell line from a patient with non-syndromic CLN3-associated retinal degeneration and a coisogenic control line Fulltext Access 5 Pages 2018
Novel IARS2 mutations in Japanese siblings with CAGSSS, Leigh, and West syndrome Fulltext Access 5 Pages 2018
Generation and characterization of two human induced pluripotent stem cell (hiPSC) lines homozygous for the Apolipoprotein e4 (APOE4) risk variant-Alzheimer's disease (ASUi005-A) and healthy non-demented control (ASUi006-A) Fulltext Access 5 Pages 2018
Generation of two induced pluripotent stem cells lines from Mucopolysaccharydosis IIIA patient: IMEDEAi004-A and IMEDEAi004-B Fulltext Access 5 Pages 2018
Generation and characterization of eight human-derived iPSC lines from affected and unaffected THAP1 mutation carriers Fulltext Access 5 Pages 2018
Generation of heterozygous and homozygous hESC H9 sublines carrying inactivating mutations in RB1 Fulltext Access 5 Pages 2018
Generation of induced pluripotent stem cells, KCi002-A derived from a patient with Bardet-Biedl syndrome homozygous for the BBS10 variant c.271insT Fulltext Access 5 Pages 2018
Generation of an induced pluripotent stem cell line from an individual with a heterozygous RECQL4 mutation Fulltext Access 5 Pages 2018
Generation of an iPSC line of a patient with Angelman syndrome due to an imprinting defect Fulltext Access 5 Pages 2018
Generation of integration-free iPS cell lines from three sickle cell disease patients from the state of Bahia, Brazil Fulltext Access 5 Pages 2018
Generation of CSi001-A, a transgene-free, induced pluripotent stem cell line derived from a Parkinson Disease (PD) patient Fulltext Access 5 Pages 2018
Generation of an ASS1 heterozygous knockout human embryonic stem cell line, WAe001-A-13, using CRISPR/Cas9 Fulltext Access 5 Pages 2018
A patient with a GNAO1 mutation with decreased spontaneous movements, hypotonia, and dystonic features Fulltext Access 5 Pages 2018
Developmental expression of the slurp-like1/ly2.3/ly97.3 and slurp-like2/ly2.2/ly97.2 genes during zebrafish early embryogenesis Fulltext Access 5 Pages 2018
Derivation of human induced pluripotent stem cell line EURACi004-A from skin fibroblasts of a patient with Arrhythmogenic Cardiomyopathy carrying the heterozygous PKP2 mutation c.2569_3018del50 Fulltext Access 5 Pages 2018
Copy number variations in healthy subjects. Case study: iPSC line CSSi005-A (3544) production from an individual with variation in 15q13.3 chromosome duplicating gene CHRNA7 Fulltext Access 5 Pages 2018
Generation of two iPSC lines (IMGTi001-A and IMGTi001-B) from human skin fibroblasts with ring chromosome 22 Fulltext Access 5 Pages 2018
Generation of induced pluripotent stem cells, KCi001-A derived from a Bardet-Biedl syndrome patient compound heterozygous for the BBS1 variants c.1169T>G/c.1135G>C Fulltext Access 5 Pages 2018
A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair Fulltext Access 5 Pages 2018
A case of tubulinopathy presenting with porencephaly caused by a novel missense mutation in the TUBA1A gene Fulltext Access 5 Pages 2018
Generation of two induced pluripotent stem cell (iPSC) lines from p.F508del Cystic Fibrosis patients Fulltext Access 5 Pages 2018
Establishment of a human induced stem cell line (FUi002-A) from Dravet syndrome patient carrying heterozygous R1525X mutation in SCN1A gene Fulltext Access 5 Pages 2018
Generation of cytochrome P450 polymorphic human induced pluripotent stem cell lines with defective CYP activities Fulltext Access 5 Pages 2018
Establishment of an induced pluripotent stem cell line from a retinitis pigmentosa patient with compound heterozygous CRB1 mutation Fulltext Access 5 Pages 2018
Establishment of a human iPSC line, IISHDOi004-A, from a patient with Usher syndrome associated with the mutation c.2276G>T; p.Cys759Phe in the USH2A gene Fulltext Access 5 Pages 2018
Generation of a human induced pluripotent stem cell line (LL008 1.4) from a familial Alzheimer's disease patient carrying a double KM670/671NL (Swedish) mutation in APP gene Fulltext Access 5 Pages 2018
Generation of the human induced pluripotent stem cell line (UKWNLi001-A) from skin fibroblasts of a woman with Fabry disease carrying the X-chromosomal heterozygous c.708â¯Gâ¯>â¯C (W236C) missense mutation in exon 5 of the alpha-galactosidase-A gene Fulltext Access 5 Pages 2018
Generation of a human CDX2 knock-in reporter iPSC line (MHHi007-A-1) to model human trophoblast differentiation Fulltext Access 5 Pages 2018
Generation of gene-corrected iPSC line from Parkinson's disease patient iPSC line with alpha-SNCA A53T mutation Fulltext Access 5 Pages 2018
Generation of induced pluripotent stem cells from a patient with Best Dystrophy carrying 11q12.3 (BEST1 (VMD2)) mutation Fulltext Access 5 Pages 2018
Generation of induced pluripotent stem cells from a patient with X-linked juvenile retinoschisis Fulltext Access 5 Pages 2018
Generation of the Rubinstein-Taybi syndrome type 2 patient-derived induced pluripotent stem cell line (IAIi001-A) carrying the EP300 exon 23 stop mutation c.3829Aâ¯>â¯T, p.(Lys1277*) Fulltext Access 5 Pages 2018
Generation of the human induced pluripotent stem cell (hiPSC) line PSMi002-A from a patient affected by the Jervell and Lange-Nielsen syndrome and carrier of two compound heterozygous mutations on the KCNQ1 gene Fulltext Access 5 Pages 2018
Establishment and characterization of a human embryonic stem cell line, NERCe002-A-3, with inducible 14-3-3ζ overexpression Fulltext Access 5 Pages 2018
Generation of the induced pluripotent stem cell line CSSi006-A (3681) from a patient affected by advanced-stage Juvenile Onset Huntington's Disease Fulltext Access 5 Pages 2018
Derivation and characterization of the NIH registry human stem cell line NYSCF101 under defined feeder-free conditions Fulltext Access 5 Pages 2018
Generation and characterization of the human iPSC line IDISi001-A isolated from blood cells of a CADASIL patient carrying a NOTCH3 mutation Fulltext Access 5 Pages 2018
Generation and characterization of two human iPSC lines from patients with methylmalonic acidemia cblB type Fulltext Access 5 Pages 2018
Serum levels of S100B from jugular bulb as a biomarker of poor prognosis in patients with severe acute brain injury Fulltext Access 6 Pages 2018
VGAT and VGLUT2 expression in MCH and orexin neurons in double transgenic reporter mice Fulltext Access 6 Pages 2018
Dopamine transporter imaging predicts motor responsiveness to levodopa challenge in patients with Parkinson's disease: A pilot study of DATSCAN for subthalamic deep brain stimulation Fulltext Access 6 Pages 2018
Parallel fluctuation of anti-neurofascin 155 antibody levels with clinico-electrophysiological findings in patients with chronic inflammatory demyelinating polyradiculoneuropathy Fulltext Access 6 Pages 2018
CRISPR mutagenesis confirms the role of oca2 in melanin pigmentation in Astyanax mexicanus Fulltext Access 6 Pages 2018
The role of Snf5 in the osteogenic differentiation potential during replicative senescence of rat mesenchymal stromal cells Fulltext Access 6 Pages 2018
Altered ureteral contractility with ageing: Role of the rho-kinase pathway Fulltext Access 6 Pages 2018
DLG2, but not TMEM229B, GPNMB, and ITGA8 polymorphism, is associated with Parkinson's disease in a Taiwanese population Fulltext Access 6 Pages 2018
White matter hyperintensities on MRI in dementia with Lewy bodies, Parkinson's disease with dementia, and Alzheimer's disease Fulltext Access 6 Pages 2018
High resolution retinal scanning reveals regional structural differences between MS and NMOSD optic neuritis regardless of antibody status Fulltext Access 6 Pages 2018
Idiopathic cerebellar ataxia (IDCA): Diagnostic criteria and clinical analyses of 63 Japanese patients Fulltext Access 6 Pages 2018
Can early dopamine transporter imaging serve as a predictor of Parkinson's disease progression and late motor complications? Fulltext Access 6 Pages 2018
Orthostatic tachycardia with different onset time in patients with orthostatic intolerance Fulltext Access 6 Pages 2018
S100B, NSE and MMP-9 fail to predict neurologic outcome while elevated S100B associates with milder initial clinical presentation after aneurysmal subarachnoid hemorrhage Fulltext Access 6 Pages 2018
Assessing mobility and balance in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay population: Validity and reliability of four outcome measures Fulltext Access 6 Pages 2018
Superficial siderosis associated with duplicated dura mater detected by CISS reverse MRI Fulltext Access 6 Pages 2018
Look more carefully: Even your data show sleep makes memories more accessible. A reply to Schreiner and Rasch (2018) Fulltext Access 6 Pages 2018
Relationship between cortical thickness and cerebrospinal fluid YKL-40 in predementia stages of Alzheimer's disease Fulltext Access 6 Pages 2018
Clinical and imaging features distinguishing Susac syndrome from primary angiitis of the central nervous system Fulltext Access 6 Pages 2018
Construction of a GLI3 compound heterozygous knockout human embryonic stem cell line WAe001-A-20 by CRISPR/Cas9 editing Fulltext Access 6 Pages 2018
Investigating CCNF mutations in a Taiwanese cohort with amyotrophic lateral sclerosis Fulltext Access 6 Pages 2018
An isoform-selective p38α mitogen-activated protein kinase inhibitor rescues early entorhinal cortex dysfunctions in a mouse model of Alzheimer's disease Fulltext Access 6 Pages 2018
Generation of three spinocerebellar ataxia type-12 patients derived induced pluripotent stem cell lines (IGIBi002-A, IGIBi003-A and IGIBi004-A) Fulltext Access 6 Pages 2018
Developmental expression of the zebrafish Arf-like small GTPase paralogs arl13a and arl13b Fulltext Access 6 Pages 2018
Asymmetric distribution of CRUMBS polarity complex proteins from compacted 8-cell to blastocyst stage during mouse preimplantation development Fulltext Access 6 Pages 2018
Cloning and gene expression analysis of two cDNA of cysteine proteinase genes involved in programmed cell death in the inner integument from developing seeds of Jatropha curcas L Fulltext Access 6 Pages 2018
Anisotropy of cell division and epithelial sheet bending via apical constriction shape the complex folding pattern of beetle horn primordia Fulltext Access 6 Pages 2018
Tricin enhances osteoblastogenesis through the regulation of Wnt/β-catenin signaling in human mesenchymal stem cells Fulltext Access 6 Pages 2018
Hyperactive behavior in female rats in utero-exposed to group B Streptococcus-induced inflammation Fulltext Access 6 Pages 2018
Ginkgolide B ameliorates NLRP3 inflammasome activation after hypoxic-ischemic brain injury in the neonatal male rat Fulltext Access 6 Pages 2018
Molecular and biochemical biomarkers for diagnosis and therapy monitorization of Niemann-Pick type C patients Fulltext Access 6 Pages 2018
McArdle Disease Presenting With Muscle Pain in a Teenage Girl: The Role of Whole-Exome Sequencing in Neurogenetic Disorders Fulltext Access 6 Pages 2018
Further characterization of CAPOS/CAOS syndrome with the Glu818Lys mutation in the ATP1A3 gene: A case report Fulltext Access 6 Pages 2018
Successful hemispherotomy in two refractory epilepsy patients with cerebral hemiatrophy and contralateral EEG abnormalities Fulltext Access 6 Pages 2018
Effect of botulinum toxin type A treatment in children with cerebral palsy: Sequential physical changes for 3â¯months after the injection Fulltext Access 6 Pages 2018
Efficacy and safety of everolimus in patients younger than 12â¯months with congenital subependymal giant cell astrocytoma Fulltext Access 6 Pages 2018
GSK3 inhibition, but not epigenetic remodeling, mediates efficient derivation of germline embryonic stem cells from nonobese diabetic mice Fulltext Access 6 Pages 2018
Safety and Efficacy of Delayed-Release Dimethyl Fumarate in Pediatric Patients With Relapsing Multiple Sclerosis (FOCUS) Fulltext Access 6 Pages 2018
AbobotulinumtoxinA Efficacy and Safety in Children With Equinus Foot Previously Treated With Botulinum Toxin Fulltext Access 6 Pages 2018
Is It Feasible to Identify Natural Clusters of TSC-Associated Neuropsychiatric Disorders (TAND)? Fulltext Access 6 Pages 2018
The More Things Change⦠Child Neurology in the Age of Next-Generation Sequencing Fulltext Access 6 Pages 2018