Mutations in the colony stimulating factor 1 receptor (CSF1R) cause hereditary diffuse leukoencephalopathy with spheroids

[1]  F. Peták,et al.  Anaesthesia management of patients with airway susceptibilities: what have we learnt from animal models? , 2013, European journal of anaesthesiology.

[2]  M. Bianchin,et al.  Nasu–Hakola disease and primary microglial dysfunction , 2010, Nature Reviews Neurology.

[3]  H. Lassmann.  Axonal and neuronal pathology in multiple sclerosis: What have we learnt from animal models , 2010, Experimental Neurology.

[4]  J. Parisi,et al.  Sporadic leucodystrophy with neuroaxonal spheroids: persistence of DWI changes and neurocognitive profiles: a case study , 2010, Journal of Neurology, Neurosurgery & Psychiatry.

[5]  D. Dickson,et al.  Leukoencephalopathy with spheroids (HDLS) and pigmentary leukodystrophy (POLD) , 2009, Neurology.

[6]  Jorge Oliveira,et al.  CSF1R copy number changes, point mutations, and RNA and protein overexpression in renal cell carcinomas , 2009, Modern Pathology.

[7]  Richard Durbin,et al.  Sequence analysis Fast and accurate short read alignment with Burrows – Wheeler transform , 2009 .

[8]  R. Schiffmann,et al.  Invited Article: An MRI-based approach to the diagnosis of white matter disorders , 2009, Neurology.

[9]  J. Maguire,et al.  Solution Hybrid Selection with Ultra-long Oligonucleotides for Massively Parallel Targeted Sequencing , 2009, Nature Biotechnology.

[10]  B. Hyman,et al.  Adult Onset Leukodystrophy with Neuroaxonal Spheroids: Clinical, Neuroimaging and Neuropathologic Observations , 2009, Brain pathology.

[11]  B. Miller,et al.  Autosomal dominant subcortical gliosis presenting as frontotemporal dementia , 2008, Neurology.

[12]  Nancy F. Hansen,et al.  Accurate Whole Human Genome Sequencing using Reversible Terminator Chemistry , 2008, Nature.

[13]  D. Dickson,et al.  Insights into the dynamics of hereditary diffuse leukoencephalopathy with axonal spheroids , 2008, Neurology.

[14]  E. Chouery,et al.  Mutations in TREM2 lead to pure early‐onset dementia without bone cysts , 2008, Human mutation.

[15]  J. Gomori,et al.  Leukoencephalopathy with neuroaxonal spheroids presenting as frontotemporal dementia. , 2008, The Israel Medical Association journal : IMAJ.

[16]  B. Boeve,et al.  Sporadic adult-onset leukoencephalopathy with neuroaxonal spheroids mimicking cerebral MS , 2008, Neurology.

[17]  M. Mascalchi,et al.  CT and MR imaging of neuroaxonal leukodystrophy presenting as early-onset frontal dementia. , 2006, AJNR. American journal of neuroradiology.

[18]  D. Dickson,et al.  Hereditary diffuse leukoencephalopathy with spheroids: clinical, pathologic and genetic studies of a new kindred , 2006, Acta Neuropathologica.

[19]  L. Peltonen,et al.  The genetic causes of basal ganglia calcification, dementia, and bone cysts , 2005, Neurology.

[20]  L. Peltonen,et al.  The genetic causes of basal ganglia calcification, dementia, and bone cysts: DAP12 and TREM2. , 2005, Neurology.

[21]  K. Shiga,et al.  Autosomal dominant leukodystrophy with axonal spheroids and pigmented glia: clinical and neuropathological characteristics , 2005, Acta Neuropathologica.

[22]  F. Pixley,et al.  CSF-1 regulation of the wandering macrophage: complexity in action. , 2004, Trends in cell biology.

[23]  M. L. Moro-de-Casillas,et al.  Leucoencephalopathy with neuroaxonal spheroids (LENAS) presenting as the cerebellar subtype of multiple system atrophy , 2004, Journal of Neurology, Neurosurgery & Psychiatry.

[24]  J. Powers,et al.  Adult onset leukodystrophy with neuroaxonal spheroids and pigmented glia: report of a family, historical perspective, and review of the literature , 2004, Acta Neuropathologica.

[25]  Elizabeth McMillan,et al.  Complexity in action , 2004 .

[26]  E. Stanley,et al.  Proteomic Approaches to the Analysis of Early Events in Colony-stimulating Factor-1 Signal Transduction* , 2003, Molecular & Cellular Proteomics.

[27]  B. Sweeney,et al.  Late-Onset Neuroaxonal Leucoencephalopathy with Spheroids and Vascular Amyloid , 2003, European Neurology.

[28]  C. Mclean,et al.  Hereditary diffuse leucoencephalopathy with spheroids , 2003, Journal of neurology, neurosurgery, and psychiatry.

[29]  L. Peltonen,et al.  Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype. , 2002, American journal of human genetics.

[30]  Toru Yamamoto,et al.  Neuroaxonal Leukoencephalopathy with Axonal Spheroids , 2002, European Neurology.

[31]  O. Salonen,et al.  CNS manifestations of Nasu–Hakola disease: A frontal dementia with bone cysts , 2001 .

[32]  O. Salonen,et al.  CNS manifestations of Nasu–Hakola disease , 2001, Neurology.

[33]  T. Hunter,et al.  Oncogenic kinase signalling , 2001, Nature.

[34]  J Tanaka,et al.  Nasu–Hakola disease: A review of its leukoencephalopathic and membranolipodystrophic features , 2000, Neuropathology : official journal of the Japanese Society of Neuropathology.

[35]  Leena Peltonen,et al.  Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts , 2000, Nature Genetics.

[36]  H. Weinstein,et al.  Autosomal dominant diffuse leukoencephalopathy with neuroaxonal spheroids , 2000, Neurology.

[37]  O. Berezovska,et al.  Expression of colony stimulating factor‐1 receptor (CSF‐1R) by CNS neurons in mice , 1999, Journal of neuroscience research.

[38]  G. Kreutzberg,et al.  Regulation of MSCF receptors on microglia in the normal and injured mouse central nervous system: A quantitative immunofluorescence study using confocal laser microscopy , 1998, The Journal of comparative neurology.

[39]  J. Hamilton.  CSF‐1 signal transduction , 1997, Journal of leukocyte biology.

[40]  T Suenaga,et al.  Alterations in glia and axons in the brains of Binswanger's disease patients. , 1997, Stroke.

[41]  F. Pixley,et al.  Biology and action of colony‐stimulating factor‐1 , 1997, Molecular reproduction and development.

[42]  P. Mcgeer,et al.  Expression of the receptor for macrophage colony stimulating factor by brain microglia and its upregulation in brains of patients with Alzheimer's disease and amyotrophic lateral sclerosis , 1994, Brain Research.

[43]  F. Bolgert,et al.  Human Immunodeficiency Virus (HIV) Leukoencephalopathy and the Microcirculation , 1990, Journal of neuropathology and experimental neurology.

[44]  M. Worwood,et al.  FMS mutations in myelodysplastic, leukemic, and normal subjects. , 1990, Proceedings of the National Academy of Sciences of the United States of America.

[45]  W. Liu,et al.  Identification and subcellular localization of proteins that are rapidly phosphorylated in tyrosine in response to colony-stimulating factor 1. , 1988, Proceedings of the National Academy of Sciences of the United States of America.