Related references
Note: Only part of the references are listed.Predictors of successful natural sleep MRI for sensorineural hearing loss in infants
Elizabeth N. Liao et al.
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY (2023)
A study of 285 cases of cranial vault suture closure in Chinese adults
JunHua Li et al.
SURGICAL AND RADIOLOGIC ANATOMY (2022)
Implication of Adult Hippocampal Neurogenesis in Alzheimer's Disease and Potential Therapeutic Approaches
Hesham Essa et al.
CELLS (2022)
The chaperone Clusterin in neurodegeneration-friend or foe?
Patricia Yuste-Checa et al.
BIOESSAYS (2022)
The Association Between Alzheimer's Disease-Related Markers and Physical Activity in Cognitively Normal Older Adults
Steve Pedrini et al.
FRONTIERS IN AGING NEUROSCIENCE (2022)
Cholesterol and Hedgehog Signaling: Mutual Regulation and Beyond
Shouying Xu et al.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY (2022)
APOE4 impairs myelination via cholesterol dysregulation in oligodendrocytes
Joel W. Blanchard et al.
NATURE (2022)
Plasma high-density lipoprotein cargo is altered in Alzheimer's disease and is associated with regional brain volume
Steve Pedrini et al.
JOURNAL OF NEUROCHEMISTRY (2022)
Apolipoprotein L1 is increased in frontotemporal lobar degeneration post-mortem brain but not in ante-mortem cerebrospinal fluid
Yanaika S. Hok-A-Hin et al.
NEUROBIOLOGY OF DISEASE (2022)
The phenotypic landscape of essential human genes
Luke Funk et al.
CELL (2022)
Extracellular clusterin limits the uptake of α-synuclein fibrils by murine and human astrocytes
Alice Filippini et al.
GLIA (2021)
The BioGRID database: A comprehensive biomedical resource of curated protein, genetic, and chemical interactions
Rose Oughtred et al.
PROTEIN SCIENCE (2021)
Relationship Between Electrical and Mechanical Dyssynchrony and Outcomes Among Patients Undergoing Cardiac Resynchronization Therapy
Daniel J. Friedman et al.
CIRCULATION-ARRHYTHMIA AND ELECTROPHYSIOLOGY (2021)
Recurrent variant c.1680C>A in FAM20C gene and genotype-phenotype correlation in a patient with Raine syndrome: a case report
Shruti Bajaj et al.
BMC PEDIATRICS (2021)
APOE and Alzheimer's Disease: From Lipid Transport to Physiopathology and Therapeutics
Mohammed Amir Husain et al.
FRONTIERS IN NEUROSCIENCE (2021)
CDH2 mutation affecting N-cadherin function causes attention-deficit hyperactivity disorder in humans and mice
D. Halperin et al.
NATURE COMMUNICATIONS (2021)
Leucine-rich repeat kinase 2-related functions in GLIA: an update of the last years
Alice Filippini et al.
BIOCHEMICAL SOCIETY TRANSACTIONS (2021)
The DisGeNET cytoscape app: Exploring and visualizing disease genomics data
Janet Pinero et al.
COMPUTATIONAL AND STRUCTURAL BIOTECHNOLOGY JOURNAL (2021)
A Focus on the Cerebellum: From Embryogenesis to an Age-Related Clinical Perspective
Greta Amore et al.
FRONTIERS IN SYSTEMS NEUROSCIENCE (2021)
FAM20C Overview: Classic and Novel Targets, Pathogenic Variants and Raine Syndrome Phenotypes
Icela Palma-Lara et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)
Heterozygous Missense Pathogenic Variants Within the Second Spectrin Repeat of SPTBN2 Lead to Infantile-Onset Cerebellar Ataxia
Andrea Accogli et al.
JOURNAL OF CHILD NEUROLOGY (2020)
Hermansky-Pudlak syndrome: Mutation update
Marjan Huizing et al.
HUMAN MUTATION (2020)
An atlas of the protein-coding genes in the human, pig, and mouse brain
Evelina Sjostedt et al.
SCIENCE (2020)
A Rare Cause of Hypophosphatemia: Raine Syndrome Changing Clinical Features with Age
Mehmet Eltan et al.
CALCIFIED TISSUE INTERNATIONAL (2020)
Two Novel FAM20C Variants in a Family with Raine Syndrome
Araceli Hernandez-Zavala et al.
GENES (2020)
Deconstructing cerebellar development cell by cell
Max J. van Essen et al.
PLOS GENETICS (2020)
Natural history of non-lethal Raine syndrome during childhood
Chiara Mameli et al.
ORPHANET JOURNAL OF RARE DISEASES (2020)
Clinical and Genetic Study on a Chinese Patient with Infantile Onset Epileptic Encephalopathy carrying a PPP3CA Null Variant: a case report
Sai Yang et al.
BMC PEDIATRICS (2020)
Raine syndrome: Prenatal diagnosis based on recognizable fetal facial features and characteristic intracranial calcification
Sara H. El-Dessouky et al.
PRENATAL DIAGNOSIS (2020)
Corpus Callosum Agenesis: An Insight into the Etiology and Spectrum of Symptoms
Jagoda Hofman et al.
BRAIN SCIENCES (2020)
A novel FAM20C mutation causing hypophosphatemic osteomalacia with osteosclerosis (mild Raine syndrome) in an elderly man with spontaneous osteonecrosis of the knee
T. Rolvien et al.
OSTEOPOROSIS INTERNATIONAL (2019)
A novel gene (FAM20B encoding glycosaminoglycan xylosylkinase) for neonatal short limb dysplasia resembling Desbuquois dysplasia
Yukiko Kuroda et al.
CLINICAL GENETICS (2019)
Role of cholesterol and sphingolipids in brain development and neurological diseases
Ghulam Hussain et al.
LIPIDS IN HEALTH AND DISEASE (2019)
Neurologic Examination Findings Associated With Small Cerebellar Volumes After Prematurity
Emily W. Y. Tam et al.
JOURNAL OF CHILD NEUROLOGY (2019)
Bone and connective tissue disorders caused by defects in glycosaminoglycan biosynthesis: a panoramic view
Chiara Paganini et al.
FEBS JOURNAL (2019)
Ubiquitylome profiling of Parkin-null brain reveals dysregulation of calcium homeostasis factors ATP1A2, Hippocalcin and GNA11, reflected by altered firing of noradrenergic neurons
J. Key et al.
NEUROBIOLOGY OF DISEASE (2019)
A novel lethal recognizable polymicrogyric syndrome caused by ATP1A2 homozygous truncating variants
Nicolas Chatron et al.
BRAIN (2019)
Brain clusterin protein isoforms and mitochondrial localization
Sarah K. Herring et al.
ELIFE (2019)
Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis
Isabelle Schrauwen et al.
GENETICS IN MEDICINE (2019)
Clusterin accumulates in synapses in Alzheimer's disease and is increased in apolipoprotein E4 carriers
Rosemary J. Jackson et al.
BRAIN COMMUNICATIONS (2019)
FAM20C regulates osteoblast behaviors and intracellular signaling pathways in a cell-autonomous manner
Chao Liu et al.
JOURNAL OF CELLULAR PHYSIOLOGY (2018)
Fetal ultrasonographic findings including cerebral hyperechogenicity in a patient with non-lethal form of Raine syndrome
Kei Tamai et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2018)
A case of Raine syndrome presenting with facial dysmorphy and review of literature
Jayesh Sheth et al.
BMC MEDICAL GENETICS (2018)
Neurodevelopmental outcome in prenatally diagnosed isolated agenesis of the corpus callosum
Lise Folliot-Le Doussal et al.
EARLY HUMAN DEVELOPMENT (2018)
Outcome of isolated agenesis of the corpus callosum: A population-based prospective study
Vincent des Pones et al.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2018)
Otosclerosis Temporal Bone Pathology
Alicia M. Quesnel et al.
OTOLARYNGOLOGIC CLINICS OF NORTH AMERICA (2018)
Somatostatin and parvalbumin inhibitory synapses onto hippocampal pyramidal neurons are regulated by distinct mechanisms
Meryl E. Horn et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2018)
Epilepsy
Orrin Devinsky et al.
NATURE REVIEWS DISEASE PRIMERS (2018)
Evaluation of the child with global developmental delay and intellectual disability
Stacey A. Belanger et al.
PAEDIATRICS & CHILD HEALTH (2018)
Altered High Density Lipoprotein Composition in Behavioral Variant Frontotemporal Dementia
Woojin Scott Kim et al.
FRONTIERS IN NEUROSCIENCE (2018)
Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660)
Michael P. Whyte et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2017)
Spatiotemporal gene expression trajectories reveal developmental hierarchies of the human cortex
Tomasz J. Nowakowski et al.
SCIENCE (2017)
Regulation of Alpha-Secretase ADAM10 In vitro and In vivo: Genetic, Epigenetic, and Protein-Based Mechanisms
Kristina Endres et al.
FRONTIERS IN MOLECULAR NEUROSCIENCE (2017)
Consensus Paper: Revisiting the Symptoms and Signs of Cerebellar Syndrome
Florian Bodranghien et al.
CEREBELLUM (2016)
Casein kinases as potential therapeutic targets
Giorgio Cozza et al.
EXPERT OPINION ON THERAPEUTIC TARGETS (2016)
Agenesis of the corpus callosum. An autopsy study in fetuses
Debora Kidron et al.
VIRCHOWS ARCHIV (2016)
Truncating mutations in APP cause a distinct neurological phenotype
Steven Klein et al.
ANNALS OF NEUROLOGY (2016)
Postmortem human brain genomics in neuropsychiatric disorders - how far can we go?
Andrew E. Jaffe
CURRENT OPINION IN NEUROBIOLOGY (2016)
Navigating genetic diagnostics in patients with hearing loss
Christina M. Sloan-Heggen et al.
CURRENT OPINION IN PEDIATRICS (2016)
Non lethal Raine syndrome and differential diagnosis
Siham Chafai Elalaoui et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2016)
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss
Christina M. Sloan-Heggen et al.
HUMAN GENETICS (2016)
Human ApoE ε2 Promotes Regulatory Mechanisms of Bioenergetic and Synaptic Function in Female Brain: A Focus on V-type H+-ATPase
Sarah K. Woody et al.
JOURNAL OF ALZHEIMERS DISEASE (2016)
Systematic network-based discovery of a Fam20C inhibitor (FL-1607) with apoptosis modulation in triple-negative breast cancer
Ziyi Qin et al.
MOLECULAR BIOSYSTEMS (2016)
Purification and Characterization of Progenitor and Mature Human Astrocytes Reveals Transcriptional and Functional Differences with Mouse
Ye Zhang et al.
NEURON (2016)
The Cellular and Molecular Landscapes of the Developing Human Central Nervous System
John C. Silbereis et al.
NEURON (2016)
Outcomes Associated With Isolated Agenesis of the Corpus Callosum: A Meta-analysis
Francesco D'Antonio et al.
PEDIATRICS (2016)
Secondary expansion of the transient subplate zone in the developing cerebrum of human and nonhuman primates
Alvaro Duque et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2016)
Neuronal subtypes and diversity revealed by single-nucleus RNA sequencing of the human brain
Blue B. Lake et al.
SCIENCE (2016)
Zika Virus Disrupts Phospho-TBK1 Localization and Mitosis in Human Neuroepithelial Stem Cells and Radial Glia
Marco Onorati et al.
CELL REPORTS (2016)
Bidirectional radial Ca2+ activity regulates neurogenesis and migration during early cortical column formation
Brian G. Rash et al.
SCIENCE ADVANCES (2016)
Report of a case of Raine syndrome and literature review
Mohammed Zain Seidahmed et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2015)
The secretory pathway kinases
Anju Sreelatha et al.
BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS (2015)
Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations
Ana Carolina Acevedo et al.
BMC MEDICAL GENETICS (2015)
A Single Kinase Generates the Majority of the Secreted Phosphoproteome
Vincent S. Tagliabracci et al.
CELL (2015)
Molecular Identity of Human Outer Radial Glia during Cortical Development
Alex A. Pollen et al.
CELL (2015)
Exposure to acoustic stimuli promotes the development and differentiation of neural stem cells from the cochlear nuclei through the clusterin pathway
Tao Xue et al.
INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE (2015)
PPAR-α agonist regulates amyloid-β generation via inhibiting BACE-1 activity in human neuroblastoma SH-SY5Y cells transfected with APPswe gene
Hua Zhang et al.
MOLECULAR AND CELLULAR BIOCHEMISTRY (2015)
Increased extracellular clusterin in the prefrontal cortex in schizophrenia
Katina M. Athanas et al.
SCHIZOPHRENIA RESEARCH (2015)
Human-specific gene ARHGAP11B promotes basal progenitor amplification and neocortex expansion
Marta Florio et al.
SCIENCE (2015)
Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families
Anas M. Alazami et al.
CELL REPORTS (2015)
Incidence, prevalence and aetiology of seizures and epilepsy in children
Peter Camfield et al.
EPILEPTIC DISORDERS (2015)
Enamel-Renal-Gingival Syndrome and FAM20A Mutations
Piranit Nik Kantaputra et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2014)
The Developmental Brain Disorders Database (DBDB): A curated neurogenetics knowledge base with clinical and research applications
Ghayda M. Mirzaa et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2014)
Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes
Timothy J. Edwards et al.
BRAIN (2014)
Amyloid precursor protein and neural development
Maya Nicolas et al.
DEVELOPMENT (2014)
Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation
Alex R. Paciorkowski et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2014)
Raine syndrome: An overview
Victor Faundes et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2014)
Temporal Specification and Bilaterality of Human Neocortical Topographic Gene Expression
Mihovil Pletikos et al.
NEURON (2014)
Xylose phosphorylation functions as a molecular switch to regulate proteoglycan biosynthesis
Jianzhong Wen et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)
Hereditary Deletion of the Entire FAM20C Gene in a Patient With Raine Syndrome
Farouq K. Ababneh et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2013)
Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23-related hypophosphatemia, dental anomalies, and ectopic calcification
Silje Hjorth Rafaelsen et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2013)
Postnatal Disruption of the Disintegrin/Metalloproteinase ADAM10 in Brain Causes Epileptic Seizures, Learning Deficits, Altered Spine Morphology, and Defective Synaptic Functions
Johannes Prox et al.
JOURNAL OF NEUROSCIENCE (2013)
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease
Jean-Charles Lambert et al.
NATURE GENETICS (2013)
Initial Evaluation and Management of a First Seizure in Children
A. B. Chelse et al.
PEDIATRIC ANNALS (2013)
Developmental assessment of children
Martin Bellman et al.
BMJ-BRITISH MEDICAL JOURNAL (2013)
A developmental and genetic classification for malformations of cortical development: update 2012
A. James Barkovich et al.
BRAIN (2012)
Na+/K+-ATPase α2-isoform preferentially modulates Ca2+ transients and sarcoplasmic reticulum Ca2+ release in cardiac myocytes
Sanda Despa et al.
CARDIOVASCULAR RESEARCH (2012)
The importance of the SIBLING family of proteins on skeletal mineralisation and bone remodelling
Katherine A. Staines et al.
JOURNAL OF ENDOCRINOLOGY (2012)
N-Cadherin Prodomain Processing Regulates Synaptogenesis
Analia Reines et al.
JOURNAL OF NEUROSCIENCE (2012)
Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
Joep de Ligt et al.
NEW ENGLAND JOURNAL OF MEDICINE (2012)
CADHERINS IN BRAIN MORPHOGENESIS AND WIRING
Shinji Hirano et al.
PHYSIOLOGICAL REVIEWS (2012)
Secreted Kinase Phosphorylates Extracellular Proteins That Regulate Biomineralization
Vincent S. Tagliabracci et al.
SCIENCE (2012)
All in the family: how the APPs regulate neurogenesis
Orly Lazarov et al.
FRONTIERS IN NEUROSCIENCE (2012)
Clusterin secreted by astrocytes enhances neuronal differentiation from human neural precursor cells
O. Cordero-Llana et al.
CELL DEATH AND DIFFERENTIATION (2011)
Migraine: Role of the TRESK two-pore potassium channel
Ronald G. Lafreniere et al.
INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY (2011)
Spatio-temporal transcriptome of the human brain
Hyo Jung Kang et al.
NATURE (2011)
Temporal dynamics and genetic control of transcription in the human prefrontal cortex
Carlo Colantuoni et al.
NATURE (2011)
Deep sequencing reveals 50 novel genes for recessive cognitive disorders
Hossein Najmabadi et al.
NATURE (2011)
IGF-1 Reduces BACE-1 Expression in PC12 Cells via Activation of PI3-K/Akt and MAPK/ERK1/2 Signaling Pathways
Hua Zhang et al.
NEUROCHEMICAL RESEARCH (2011)
Genetic Assessment of Cortical Malformations
U. Hehr et al.
NEUROPEDIATRICS (2011)
Apolipoprotein-E forms dimers in human frontal cortex and hippocampus
David A. Elliott et al.
BMC NEUROSCIENCE (2010)
Apolipoproteins in the brain: implications for neurological and psychiatric disorders
David A. Elliott et al.
CLINICAL LIPIDOLOGY (2010)
The Disintegrin/Metalloproteinase ADAM10 Is Essential for the Establishment of the Brain Cortex
Ellen Jorissen et al.
JOURNAL OF NEUROSCIENCE (2010)
FAM20B is a kinase that phosphorylates xylose in the glycosaminoglycan-protein linkage region
Toshiyasu Koike et al.
BIOCHEMICAL JOURNAL (2009)
GOrilla: a tool for discovery and visualization of enriched GO terms in ranked gene lists
Eran Eden et al.
BMC BIOINFORMATICS (2009)
Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia
M. A. Simpson et al.
CLINICAL GENETICS (2009)
Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease
Denise Harold et al.
NATURE GENETICS (2009)
Neurodevelopmental outcome in prenatally diagnosed isolated agenesis of the corpus callosum
A. Chadie et al.
ACTA PAEDIATRICA (2008)
Postnatal sepsis, necrotizing entercolitis, and the critical role of systemic inflammation in white matter injury in premature infants
Joseph J. Volpe
JOURNAL OF PEDIATRICS (2008)
A rare lethal osteosclerotic bone dysplasia. prenatal diagnosis, autopsy, and neuropathological findings
David Chitayat et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)
Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development
M. A. Simpson et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Relationships between locomotor activation and alterations in brain temperature during selective blockade and stimulation of dopamine transmission
P. L. Brown et al.
NEUROSCIENCE (2007)
Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis
Lekbir Baala et al.
NATURE GENETICS (2007)
Na,K-ATPase α2 inhibition alters calcium responses in optic nerve astrocytes
AK Hartford et al.
GLIA (2004)
Development and developmental disorders of the human cerebellum
HJ ten Donkelaar et al.
JOURNAL OF NEUROLOGY (2003)
The Na,K-ATPase α2 isoform is expressed in neurons, and its absence disrupts neuronal activity in newborn mice
AE Moseley et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
The disintegrin/metalloprotease ADAM 10 is essential for Notch signalling but not for α-secretase activity in fibroblasts
D Hartmann et al.
HUMAN MOLECULAR GENETICS (2002)
Diagnostic implications of circulating oxidized low density lipoprotein levels as a biochemical risk marker of coronary artery disease
T Suzuki et al.
CLINICAL BIOCHEMISTRY (2002)
Gene expression analysis in schizophrenia: Reproducible up-regulation of several members of the apolipoprotein L family located in a high-susceptibility locus for schizophrenia on chromosome 22
ML Mimmack et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2002)
Share Paper
