Impaired instrumental learning in Spred1 −/− mice, a model for a rare RASopathy

Examination of the genetic factors underlying the cognitive variability associated with neurofibromatosis type 1

(2020) Myrthe J. Ottenhoff et al.   GENETICS IN MEDICINE

An update on the central nervous system manifestations of neurofibromatosis type 1

(2019) J. Stephen Nix et al.   ACTA NEUROPATHOLOGICA

Habituation Learning is a Widely Affected Mechanism in Drosophila Models of Intellectual Disability and Autism Spectrum Disorders

(2019) Michaela Fenckova et al.   BIOLOGICAL PSYCHIATRY

Autism-associated Nf1 deficiency disrupts corticocortical and corticostriatal functional connectivity in human and mouse

(2019) Ben Shofty et al.   NEUROBIOLOGY OF DISEASE

Neuropilin 2 signaling mediates corticostriatal transmission, spine maintenance, and goal-directed learning in mice

(2019) Maxime Assous et al.   JOURNAL OF NEUROSCIENCE

Clinical spectrum of individuals with pathogenic N F1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

(2019) Magdalena Koczkowska et al.   HUMAN MUTATION

Reproducibility of cognitive endpoints in clinical trials: lessons from neurofibromatosis type 1

(2019) Jonathan M. Payne et al.   Annals of Clinical and Translational Neurology

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

(2018) Magdalena Koczkowska et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Enhanced cognition and dysregulated hippocampal synaptic physiology in mice with a heterozygous deletion of PSD-95

(2018) Alexa E. Horner et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

Touchscreen learning deficits in Ube3a , Ts65Dn and Mecp2 mouse models of neurodevelopmental disorders with intellectual disabilities

(2018) P. T. Leach et al.   GENES BRAIN AND BEHAVIOR

NFM-06. NF106: PHASE 2 TRIAL OF THE MEK INHIBITOR PD-0325901 IN ADOLESCENTS AND ADULTS WITH NF1-RELATED PLEXIFORM NEUROFIBROMAS: AN NF CLINICAL TRIALS CONSORTIUM STUDY

(2018) Brian Weiss et al.   NEURO-ONCOLOGY

Chronic treatment with a MEK inhibitor reverses enhanced excitatory field potentials in Syngap1 +/− mice

(2018) Maksym V. Kopanitsa et al.   Pharmacological Reports

Social interactions impact on the dopaminergic system and drive individuality

(2018) N. Torquet et al.   Nature Communications

Impaired instrumental reversal learning is associated with increased medial prefrontal cortex activity in Sapap3 knockout mouse model of compulsive behavior

(2018) Elizabeth E. Manning et al.   NEUROPSYCHOPHARMACOLOGY

Mechanisms underlying cognitive deficits in a mouse model for Costello Syndrome are distinct from other RASopathy mouse models

(2017) Jadwiga Schreiber et al.   Scientific Reports

Cognitive and Behavioral Disorders in Children with Neurofibromatosis Type 1

(2017) Martha Milade Torres Nupan et al.   Frontiers in Pediatrics

Executive functioning deficits in children with neurofibromatosis type 1: The influence of intellectual and social functioning

(2016) Ellen Plasschaert et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Cell type-specific roles of RAS-MAPK signaling in learning and memory: Implications in neurodevelopmental disorders

(2016) Hyun-Hee Ryu et al.   NEUROBIOLOGY OF LEARNING AND MEMORY

Randomized placebo-controlled study of lovastatin in children with neurofibromatosis type 1

(2016) Jonathan M. Payne et al.   NEUROLOGY

The neurofibromin recruitment factor Spred1 binds to the GAP related domain without affecting Ras inactivation

(2016) Theresia Dunzendorfer-Matt et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Altered mGluR5-Homer scaffolds and corticostriatal connectivity in a Shank3 complete knockout model of autism

(2016) Xiaoming Wang et al.   Nature Communications

Impairment of cocaine-mediated behaviours in mice by clinically relevant Ras-ERK inhibitors

(2016) Alessandro Papale et al.   eLife

Neurofibromatosis-1 regulation of neural stem cell proliferation and multilineage differentiation operates through distinct RAS effector pathways

(2015) Yi-Hsien Chen et al.   GENES & DEVELOPMENT

Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1

(2015) Yasuko Hirata et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Altered hippocampal-dependent memory and motor function in neuropilin 2–deficient mice

(2015) M W Shiflett et al.   Translational Psychiatry

NF1 regulation of RAS/ERK signaling is required for appropriate granule neuron progenitor expansion and migration in cerebellar development

(2014) Efrain Sanchez-Ortiz et al.   GENES & DEVELOPMENT

New BRAF knockin mice provide a pathogenetic mechanism of developmental defects and a therapeutic approach in cardio-facio-cutaneous syndrome

(2014) Shin-ichi Inoue et al.   HUMAN MOLECULAR GENETICS

Mechanism and treatment for learning and memory deficits in mouse models of Noonan syndrome

(2014) Yong-Seok Lee et al.   NATURE NEUROSCIENCE

The touchscreen operant platform for assessing executive function in rats and mice

(2013) Adam C Mar et al.   Nature Protocols

The touchscreen operant platform for testing working memory and pattern separation in rats and mice

(2013) Charlotte A Oomen et al.   Nature Protocols

The touchscreen operant platform for testing learning and memory in rats and mice

(2013) Alexa E Horner et al.   Nature Protocols

Emergence of Individuality in Genetically Identical Mice

(2013) J. Freund et al.   SCIENCE

ERK Inhibition Rescues Defects in Fate Specification of Nf1-Deficient Neural Progenitors and Brain Abnormalities

(2012) Yuan Wang et al.   CELL

A shared molecular mechanism underlies the human rasopathies Legius syndrome and Neurofibromatosis-1

(2012) I. B. Stowe et al.   GENES & DEVELOPMENT

Review and update ofSPRED1mutations causing legius syndrome

(2012) Hilde Brems et al.   HUMAN MUTATION

Paired associate learning in children with neurofibromatosis type 1: implications for clinical trials

(2012) Jonathan M. Payne et al.   JOURNAL OF NEUROLOGY

Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2

(2012) Michael J. Schmeisser et al.   NATURE

Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function

(2012) Hyejung Won et al.   NATURE

Synaptic scaffold evolution generated components of vertebrate cognitive complexity

(2012) Jess Nithianantharajah et al.   NATURE NEUROSCIENCE

Observations on intelligence and behavior in 15 patients with Legius syndrome

(2011) Ellen Denayer et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

MEK-ERK pathway modulation ameliorates disease phenotypes in a mouse model of Noonan syndrome associated with the Raf1L613V mutation

(2011) Xue Wu et al.   JOURNAL OF CLINICAL INVESTIGATION

New translational assays for preclinical modelling of cognition in schizophrenia: The touchscreen testing method for mice and rats

(2011) T.J. Bussey et al.   NEUROPHARMACOLOGY

Molecular and Cellular Mechanisms of Learning Disabilities: A Focus on NF1

(2010) C. Shilyansky et al.   Annual Review of Neuroscience

Phase I Pharmacokinetic and Pharmacodynamic Study of the Oral MAPK/ERK Kinase Inhibitor PD-0325901 in Patients with Advanced Cancers

(2010) P. M. LoRusso et al.   CLINICAL CANCER RESEARCH

Spred1, a negative regulator of Ras-MAPK-ERK, is enriched in CNS germinal zones, dampens NSC proliferation, and maintains ventricular zone structure

(2010) T. N. Phoenix et al.   GENES & DEVELOPMENT

Legius syndrome in fourteen families

(2010) Ellen Denayer et al.   HUMAN MUTATION

Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions

(2010) V.-F. Mautner et al.   JOURNAL OF MEDICAL GENETICS

Neurofibromin regulates corticostriatal inhibitory networks during working memory performance

(2010) C. Shilyansky et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Clinical and Mutational Spectrum of Neurofibromatosis Type 1–like Syndrome

(2009) Ludwine Messiaen   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Spred1 Is Required for Synaptic Plasticity and Hippocampus-Dependent Learning

(2009) E. Denayer et al.   JOURNAL OF NEUROSCIENCE

Cognitive control in adolescents with neurofibromatosis type 1.

(2009) I. Rowbotham et al.   NEUROPSYCHOLOGY

Neurofibromin Is Required for Barrel Formation in the Mouse Somatosensory Cortex

(2008) M. E. Lush et al.   JOURNAL OF NEUROSCIENCE