The contribution of platelet studies to the understanding of disease mechanisms in complex and monogenetic neurological disorders

Autism genetics

(2013) Antonio M. Persico et al.   BEHAVIOURAL BRAIN RESEARCH

Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12

(2013) Christophe Goubau et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Functional studies and proteomics in platelets and fibroblasts reveal a lysosomal defect with increased cathepsin-dependent apoptosis in ATP1A3 defective alternating hemiplegia of childhood

(2013) Michela Di Michele et al.   Journal of Proteomics

High Circulatory Titer of Platelet-Associated Autoantibodies in Childhood Onset Schizophrenia and Its Diagnostic Implications

(2013) Tanya Ebert et al.   NEUROPSYCHOBIOLOGY

Heterogeneity of Platelet Functional Alterations in Patients With Filamin A Mutations

(2012) Eliane Berrou et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Proteomics to Unravel Platelet-Related Diseases and Identify Novel Anti-Platelet Drugs

(2012) M. Di Michele et al.   CURRENT MEDICINAL CHEMISTRY

Regulated granule trafficking in platelets and neurons: A common molecular machinery

(2012) Christophe Goubau et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Homozygosity for aquaporin 7 G264V in three unrelated children with hyperglyceroluria and a mild platelet secretion defect

(2012) Christophe Goubau et al.   GENETICS IN MEDICINE

Migraine: Possible Role of Shear-Induced Platelet Aggregation With Serotonin Release

(2012) Piet Borgdorff et al.   HEADACHE

Effect of PACAP in Central and Peripheral Nerve Injuries

(2012) Andrea Tamas et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Clinical spectrum of disease associated with ATP1A3 mutations

(2012) Laurie J Ozelius   LANCET NEUROLOGY

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

(2012) Erin L Heinzen et al.   NATURE GENETICS

New insights into the versatile roles of platelet FlnA

(2012) Hervé Falet   PLATELETS

P-Type ATPases

(2011) Michael G. Palmgren et al.   Annual Review of Biophysics

Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome

(2011) P. Nurden et al.   BLOOD

Transcription factor networks in erythroid cell and megakaryocyte development

(2011) L. C. Dore et al.   BLOOD

The Autism Candidate Gene Neurobeachin Encodes a Scaffolding Protein Implicated in Membrane Trafficking and Signaling

(2011) K. Volders et al.   CURRENT MOLECULAR MEDICINE

Review on the Protective Effects of PACAP in Models of Neurodegenerative Diseases In Vitro and In Vivo

(2011) D. Reglodi et al.   CURRENT PHARMACEUTICAL DESIGN

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

(2011) F. Kortum et al.   JOURNAL OF MEDICAL GENETICS

FoxG1 Promotes the Survival of Postmitotic Neurons

(2011) S. G. Dastidar et al.   JOURNAL OF NEUROSCIENCE

The role of semaphorins and their receptors in platelets: Lessons learned from neuronal and immune synapses

(2011) Kenneth M. Wannemacher et al.   PLATELETS

SCAMP5, NBEA and AMISYN: three candidate genes for autism involved in secretion of large dense-core vesicles

(2010) Dries Castermans et al.   HUMAN MOLECULAR GENETICS

Cytoskeletal mechanics of proplatelet maturation and platelet release

(2010) Jonathan N. Thon et al.   JOURNAL OF CELL BIOLOGY

Integration of Telencephalic Wnt and Hedgehog Signaling Center Activities by Foxg1

(2009) Catherine Danesin et al.   DEVELOPMENTAL CELL

Hyperserotonemia in autism: activity of 5HT-associated platelet proteins

(2009) Dubravka Hranilović et al.   JOURNAL OF NEURAL TRANSMISSION

Filamin A mutation, a common cause for periventricular heterotopia, aneurysms and cardiac defects

(2009) M C Y de Wit et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Human platelet pathology related to defects in the G-protein signaling cascade

(2009) C. VAN GEET et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Altered Platelet Monoamine Oxidase-B Activity in Idiopathic Parkinson’s Disease

(2009) Maroof Husain et al.   NEUROCHEMICAL RESEARCH

Alternating Hemiplegia of Childhood: Early Characteristics and Evolution of a Neurodevelopmental Syndrome

(2009) M. T. Sweney et al.   PEDIATRICS

Investigating GABA and its function in platelets as compared to neurons

(2009) Fatima Shad Kaneez et al.   PLATELETS

GNAS Defects Identified by Stimulatory G Protein α-Subunit Signalling Studies in Platelets

(2008) Kathleen Freson et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Differential processing and secretion of Aβ peptides and sAPPα in human platelets is regulated by thrombin and prostaglandine 2

(2008) A. Smirnov et al.   NEUROBIOLOGY OF AGING