Single-center experience with intrathecal administration of Nusinersen in children with spinal muscular atrophy type 1 Fulltext Access 6 Pages 2018
Motor dysfunction in NF1: Mediated by attention deficit or inherent to the disorder? Fulltext Access 6 Pages 2018
A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature Fulltext Access 6 Pages 2018
Questionnaire survey on the current status of ketogenic diet therapy in patients with glucose transporter 1 deficiency syndrome (GLUT1DS) in Japan Fulltext Access 6 Pages 2018
A new mutation of the SCGA gene is the cause of a late onset mild phenotype limb girdle muscular dystrophy type 2D with axial involvement Fulltext Access 6 Pages 2018
An episode of acute encephalopathy with biphasic seizures and late reduced diffusion followed by hemiplegia and intractable epilepsy observed in a patient with a novel frameshift mutation in HNRNPU Fulltext Access 6 Pages 2018
Biallelic mutations in SZT2 cause a discernible clinical entity with epilepsy, developmental delay, macrocephaly and a dysmorphic corpus callosum Fulltext Access 6 Pages 2018
Neurodevelopmental disorders in children with macrocephaly: A prevalence study and PTEN gene analysis Fulltext Access 6 Pages 2018
Brain MRI abnormalities resembling Unidentified Bright Objects in a patient with Phelan-McDermid syndrome Fulltext Access 7 Pages 2018
Pediatric NMDAR encephalitis: A single center observation study with a closer look at movement disorders Fulltext Access 7 Pages 2018
To switch from Botox to Dysport in children with CP, a real world, dose conversion, cost-effectiveness study Fulltext Access 7 Pages 2018
A novel mutation of WDR62 gene associated with severe phenotype including infantile spasm, microcephaly, and intellectual disability Fulltext Access 7 Pages 2018
Correlations between UGT2B7â2 gene polymorphisms and plasma concentrations of carbamazepine and valproic acid in epilepsy patients Fulltext Access 7 Pages 2018
Type I interferon and proinflammatory cytokine levels in cerebrospinal fluid of newborns with rotavirus-associated leukoencephalopathy Fulltext Access 7 Pages 2018
Anti-N-methyl-d-aspartate receptor encephalitis in children: Incidence and experience in Hong Kong Fulltext Access 7 Pages 2018
Clinical phenotype of hereditary spastic paraplegia due to KIF1C gene mutations across life span Fulltext Access 7 Pages 2018
Development of a new screening tool for neuromotor development in children aged two - the neuromotor 5â¯min exam 2-year-old version (N5E2) Fulltext Access 7 Pages 2018
Mutational spectrum of PTS gene and in silico pathological assessment of a novel variant in Mexico Fulltext Access 7 Pages 2018
Distinctive facies, macrocephaly, and developmental delay are signs of a PTEN mutation in childhood Fulltext Access 7 Pages 2018
Analysis of the FGFR spatiotemporal expression pattern within the chicken scleral ossicle system Fulltext Access 7 Pages 2018
Making a 'JUMP' from paediatric to adult healthcare: A transitional program for young adults with chronic neurological disease Fulltext Access 7 Pages 2018
Introducing the transparency and openness promotion (TOP) guidelines and badges for open practices at Cortex Fulltext Access 7 Pages 2018
Diffusion MRI parameters of corpus callosum and corticospinal tract in neonates: Comparison between region-of-interest and whole tract averaged measurements Fulltext Access 7 Pages 2018
Towards an integrated functional and epileptological approach in the management of meningioangiomatosis Fulltext Access 7 Pages 2018
Regulation of AMPA receptor trafficking and exit from the endoplasmic reticulum Fulltext Access 7 Pages 2018
Assessing cognitive functioning in females with Rett syndrome by eye-tracking methodology Fulltext Access 7 Pages 2018
Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations Fulltext Access 7 Pages 2018
Reading skill related to left ventral occipitotemporal cortex during a phonological awareness task in 5-6-year old children Fulltext Access 7 Pages 2018
Magnetoencephalographic Characteristics of Cortical Dysplasia in Children Fulltext Access 7 Pages 2018
Whole exome sequencing discloses a pathogenic MTM1 gene mutation and ends the diagnostic odyssey in an older woman with a progressive and seemingly sporadic myopathy: Case report and literature review of MTM1 manifesting female carriers Fulltext Access 7 Pages 2018
The senescent bystander effect is caused by ROS-activated NF-κB signalling Fulltext Access 7 Pages 2018
Natural history of benign multiple sclerosis: Clinical and HLA correlates in a Western Australian cohort Fulltext Access 7 Pages 2018
Generation of patient-specific induced pluripotent stem cell lines from one patient with Jervell and Lange-Nielsen syndrome, one with type 1 long QT syndrome and two healthy relatives Fulltext Access 7 Pages 2018
Age related depth profiles of human Stratum Corneum barrier-related molecular parameters by confocal Raman microscopy in vivo Fulltext Access 7 Pages 2018
Optimized procedures for generating an enhanced, near physiological 2D culture system from porcine intestinal organoids Fulltext Access 7 Pages 2018
Gender-specific desensitization of group I metabotropic glutamate receptors after maternal l-glutamate intake during lactation Fulltext Access 7 Pages 2018
Nivolumab-induced acute demyelinating polyradiculoneuropathy mimicking Guillain-Barré syndrome Fulltext Access 7 Pages 2018
Real-world persistence with fingolimod for the treatment of multiple sclerosis: A systematic review and meta-analysis Fulltext Access 7 Pages 2018
Foxi1 promotes late-stage pharyngeal pouch morphogenesis through ectodermal Wnt4a activation Fulltext Access 7 Pages 2018
Correlation between clinical and radiologic features of patients with Gerstmann-Sträussler-Scheinker syndrome (Pro102Leu) Fulltext Access 7 Pages 2018
Meningioangiomatosis: A review of the variable manifestations and complex pathophysiology Fulltext Access 7 Pages 2018
The expression of natriuretic peptide receptors in developing zebrafish embryos Fulltext Access 7 Pages 2018
Anti-GM1 ganglioside antibodies modulate membrane-associated sphingomyelin metabolism by altering neutral sphingomyelinase activity Fulltext Access 7 Pages 2018
Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort Fulltext Access 7 Pages 2018
Juvenile-onset neuronal ceroid lipofuscinosis (CLN1) disease with a novel deletion and duplication in the PPT1 gene Fulltext Access 7 Pages 2018
Heterozygous TYROBP deletion (PLOSLFIN) is not a strong risk factor for cognitive impairment Fulltext Access 7 Pages 2018
A Bombyx homolog of ovo is a segmentation gene that acts downstream of Bm-wnt1(Bombyx wnt1 homolog) Fulltext Access 7 Pages 2018
Isolated persistent acute global amnesia after acute abuse of 3,4-methylenedioxy-methamphetamine (MDMA) Fulltext Access 8 Pages 2018
An in vitro model of polycystic liver disease using genome-edited human inducible pluripotent stem cells Fulltext Access 8 Pages 2018
A novel ZC4H2 gene mutation, K209N, in Japanese siblings with arthrogryposis multiplex congenita and intellectual disability: characterization of the K209N mutation and clinical findings Fulltext Access 8 Pages 2018
In a stroke cohort with incident hypertension; are more women than men likely to be excluded from recombinant tissue-type Plasminogen Activator (rtPA)? Fulltext Access 8 Pages 2018
Extrastriatal degeneration correlates with deficits in the motor domain subscales of the UHDRS Fulltext Access 8 Pages 2018
Experimental sheep BSE prions generate the vCJD phenotype when serially passaged in transgenic mice expressing human prion protein Fulltext Access 8 Pages 2018
From excitation to intracellular Ca2+ movements in skeletal muscle: Basic aspects and related clinical disorders Fulltext Access 8 Pages 2018
LncRNA TINCR/miR-31-5p/C/EBP-α feedback loop modulates the adipogenic differentiation process in human adipose tissue-derived mesenchymal stem cells Fulltext Access 8 Pages 2018
A complete workflow for the differentiation and the dissociation of hiPSC-derived cardiospheres Fulltext Access 8 Pages 2018
Migraine and associated comorbidities are three times more frequent in children with ADHD and their mothers Fulltext Access 8 Pages 2018
CMT2 due to homozygous MFN2 variants is a multiorgan mitochondrial disorder Fulltext Access 8 Pages 2018
Idarucizumab-facilitated intravenous thrombolysis in acute ischemic stroke: A therapeutic strategy requiring further investigation Fulltext Access 8 Pages 2018
Direct conversion of human pluripotent stem cells into cranial motor neurons using a piggyBac vector Fulltext Access 8 Pages 2018
Pilot study of EEG in neonates born to mothers with gestational diabetes mellitus Fulltext Access 8 Pages 2018
Early emergence of altered 5-HT2A receptor-evoked behavior, neural activation and gene expression following maternal separation Fulltext Access 8 Pages 2018
miR-302/367-induced neurons reduce behavioral impairment in an experimental model of Alzheimer's disease Fulltext Access 8 Pages 2018
Evaluation of choroid plexus with fetal magnetic resonance imaging: What happens in ventriculomegaly? Fulltext Access 8 Pages 2018
Intron-retained transcripts of the spinal muscular atrophy genes, SMN1 and SMN2 Fulltext Access 8 Pages 2018
The dynamics of native Atoh7 protein expression during mouse retinal histogenesis, revealed with a new antibody Fulltext Access 8 Pages 2018
Diagnostic challenge for the rare lysosomal storage disease: Late infantile GM1 gangliosidosis Fulltext Access 8 Pages 2018
Dissecting the function of Cullin-RING ubiquitin ligase complex genes in planarian regeneration Fulltext Access 8 Pages 2018
Nr2f1a balances atrial chamber and atrioventricular canal size via BMP signaling-independent and -dependent mechanisms Fulltext Access 8 Pages 2018
Characterization of the lncRNA transcriptome in mESC-derived motor neurons: Implications for FUS-ALS Fulltext Access 8 Pages 2018
Fosl1 overexpression directly activates trophoblast-specific gene expression programs in embryonic stem cells Fulltext Access 8 Pages 2018
Actin depolymerization enhances adipogenic differentiation in human stromal stem cells Fulltext Access 8 Pages 2018
Motor neuron differentiation of iPSCs obtained from peripheral blood of a mutant TARDBP ALS patient Fulltext Access 8 Pages 2018
Endothelial cells instruct liver specification of embryonic stem cell-derived endoderm through endothelial VEGFR2 signaling and endoderm epigenetic modifications Fulltext Access 8 Pages 2018
Chondrogenic differentiation in vitro of hiPSCs activates pathways engaged in limb development Fulltext Access 8 Pages 2018
Modulation of cutaneous scavenger receptor B1 levels by exogenous stressors impairs “in vitro” wound closure Fulltext Access 8 Pages 2018
Muscle ultrasound elastography and MRI in preschool children with Duchenne muscular dystrophy Fulltext Access 8 Pages 2018
Infiltrating macrophages contribute to age-related neuroinflammation in C57/BL6 mice Fulltext Access 8 Pages 2018
Co-localization of cystatin C and prosaposin in cultured neurons and in anterior horn neurons with amyotrophic lateral sclerosis Fulltext Access 8 Pages 2018
Timed function tests, motor function measure, and quantitative thigh muscle MRI in ambulant children with Duchenne muscular dystrophy: A cross-sectional analysis Fulltext Access 8 Pages 2018
Exertional myalgia, contractures and annular erythema in a patient with muscle lactate dehydrogenase (LDH) deficiency Fulltext Access 8 Pages 2018