Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186

Loss of Neurofascin-186 Disrupts Alignment of AnkyrinG Relative to Its Binding Partners in the Axon Initial Segment

(2019) Scott A. Alpizar et al.   Frontiers in Cellular Neuroscience

Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathy

(2019) Edoardo Monfrini et al.   PARKINSONISM & RELATED DISORDERS

Human iPS-Derived Astroglia from a Stable Neural Precursor State Show Improved Functionality Compared with Conventional Astrocytic Models

(2018) Anders Lundin et al.   Stem Cell Reports

Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability

(2018) Malin Kvarnung et al.   CLINICAL GENETICS

Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia

(2018) Robert Smigiel et al.   HUMAN MOLECULAR GENETICS

An in vitro model of lissencephaly: expanding the role of DCX during neurogenesis

(2017) M Shahsavani et al.   MOLECULAR PSYCHIATRY

Axonal Membranes and Their Domains: Assembly and Function of the Axon Initial Segment and Node of Ranvier

(2017) Andrew D. Nelson et al.   Frontiers in Cellular Neuroscience

Ankyrin G Membrane Partners Drive the Establishment and Maintenance of the Axon Initial Segment

(2017) Christophe Leterrier et al.   Frontiers in Cellular Neuroscience

Spatio-temporal and dynamic regulation of neurofascin alternative splicing in mouse cerebellar neurons

(2017) Satoko Suzuki et al.   Scientific Reports

Generation of human iPS cell line CTL07-II from human fibroblasts, under defined and xeno-free conditions

(2016) Malin Kele et al.   Stem Cell Research

Differential Stability of PNS and CNS Nodal Complexes When Neuronal Neurofascin Is Lost

(2014) A. Desmazieres et al.   JOURNAL OF NEUROSCIENCE

Dentate Gyrus Local Circuit is Implicated in Learning Under Stress—a Role for Neurofascin

(2014) Femke M. P. Zitman et al.   MOLECULAR NEUROBIOLOGY

Stem Cells Expanded from the Human Embryonic Hindbrain Stably Retain Regional Specification and High Neurogenic Potency

(2013) J. Tailor et al.   JOURNAL OF NEUROSCIENCE

Neurofascin: A switch between neuronal plasticity and stability

(2012) Martin Kriebel et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Childhood Cerebellar Ataxia

(2012) Brent L. Fogel   JOURNAL OF CHILD NEUROLOGY

Pinceau Organization in the Cerebellum Requires Distinct Functions of Neurofascin in Purkinje and Basket Neurons during Postnatal Development

(2012) E. D. Buttermore et al.   JOURNAL OF NEUROSCIENCE

Capture of Neuroepithelial-Like Stem Cells from Pluripotent Stem Cells Provides a Versatile System for In Vitro Production of Human Neurons

(2012) Anna Falk et al.   PLoS One

A Critical Role for Neurofascin in Regulating Action Potential Initiation through Maintenance of the Axon Initial Segment

(2011) Barbara Zonta et al.   NEURON

The development of the ventral prefrontal cortex and social flexibility

(2011) Eric E. Nelson et al.   Developmental Cognitive Neuroscience