Imaging in cutis laxa syndrome caused by a dominant negative ALDH18A1 mutation, with hypotheses for intracranial vascular tortuosity and wide perivascular spaces.
暂无分享,去创建一个
L. Meiners | C. V. van Ravenswaaij-Arts | A. Lin | P. Caruso | B. Callewaert | M. Boon | P. Sinnige | C. van Ravenswaaij-Arts | E. Rahikkala | P F Sinnige
[1] K. Boycott,et al. Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1 , 2017, Journal of Human Genetics.
[2] A. Hoischen,et al. Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa. , 2017, American Journal of Human Genetics.
[3] T. Tsunoda,et al. ALDH18A1-related cutis laxa syndrome with cyclic vomiting , 2016, Brain and Development.
[4] J. Ganesh,et al. Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa. , 2015, American journal of human genetics.
[5] B. Callewaert,et al. The Genetics of Soft Connective Tissue Disorders. , 2015, Annual review of genomics and human genetics.
[6] S. Mundlos,et al. Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1. , 2014, Molecular genetics and metabolism.
[7] R. Wevers,et al. Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature. , 2014, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
[8] Martin S. Taylor,et al. Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome , 2014, Molecular genetics & genomic medicine.
[9] O. Togao,et al. Systemic vascular phenotypes of Loeys-Dietz syndrome in a child carrying a de novo R381P mutation in TGFBR2: a case report , 2013, BMC Research Notes.
[10] R. Barone,et al. Imaging findings of mucopolysaccharidoses: a pictorial review , 2013, Insights into Imaging.
[11] M. Baumgartner,et al. Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine , 2012, Journal of Inherited Metabolic Disease.
[12] F. Brancati,et al. De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction , 2012, American journal of medical genetics. Part A.
[13] Hai-Chao Han. Twisted Blood Vessels: Symptoms, Etiology and Biomechanical Mechanisms , 2012, Journal of Vascular Research.
[14] S. Robertson,et al. Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ1‐pyrroline‐5‐carboxylate synthase (P5CS) , 2011, American journal of medical genetics. Part A.
[15] R. Wevers,et al. Metabolic cutis laxa syndromes , 2011, Journal of Inherited Metabolic Disease.
[16] K. Auguste,et al. Cervical and Intracranial Arterial Anomalies in 70 Patients with PHACE Syndrome , 2010, American Journal of Neuroradiology.
[17] Frederik Barkhof,et al. Magnetic resonance imaging pattern recognition in hypomyelinating disorders. , 2010, Brain : a journal of neurology.
[18] P. Landrieu,et al. Developmental dilatation of Virchow-Robin spaces: a genetic disorder? , 2009, Pediatric neurology.
[19] Peter Nürnberg,et al. Mutations in PYCR1 cause cutis laxa with progeroid features , 2009, Nature Genetics.
[20] S. Robertson,et al. A missense mutation in ALDH18A1, encoding Δ1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome , 2008, European Journal of Human Genetics.
[21] R O Weller,et al. Solutes, but not cells, drain from the brain parenchyma along basement membranes of capillaries and arteries: significance for cerebral amyloid angiopathy and neuroimmunology , 2008, Neuropathology and applied neurobiology.
[22] S. Nik-Zainal,et al. Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families , 2008, Human mutation.
[23] E. Zackai,et al. Neuroimaging findings in macrocephaly–capillary malformation: A longitudinal study of 17 patients , 2007, American journal of medical genetics. Part A.
[24] Thomas C Kwee,et al. Virchow-Robin spaces at MR imaging. , 2007, Radiographics : a review publication of the Radiological Society of North America, Inc.
[25] S. Kaler,et al. Brachial artery aneurysms in Menkes disease. , 2006, The Journal of pediatrics.
[26] J. Sundberg,et al. Role of COL4A1 in small-vessel disease and hemorrhagic stroke. , 2006, The New England journal of medicine.
[27] Oded Gonen,et al. Dilated perivascular spaces: hallmarks of mild traumatic brain injury. , 2005, AJNR. American journal of neuroradiology.
[28] F Barkhof,et al. Enlarged Virchow-Robin spaces: do they matter? , 2004, Journal of Neurology, Neurosurgery & Psychiatry.
[29] J. K. Smith,et al. Brain MRI findings in patients with mucopolysaccharidosis types I and II and mild clinical presentation , 2004, Neuroradiology.
[30] J. Thammaroj,et al. VEIN OF GALEN MALFORMATIONS , 2003, Journal of neurology, neurosurgery, and psychiatry.
[31] P. Massin,et al. Hereditary infantile hemiparesis, retinal arteriolar tortuosity, and leukoencephalopathy , 2003, Neurology.
[32] M. Baumgartner,et al. Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase. , 2000, Human molecular genetics.
[33] K. terBrugge,et al. Tortuous, engorged pial veins in intracranial dural arteriovenous fistulas: correlations with presentation, location, and MR findings in 122 patients. , 1999, AJNR. American journal of neuroradiology.
[34] D. Prayer,et al. Virchow-Robin spaces in childhood migraine , 1999, Neuroradiology.
[35] O. Kim,et al. Intracranial and extracranial MR angiography in Menkes disease , 1997, Pediatric Radiology.
[36] S. Levine,et al. Cerebrovascular complications of Fabry's disease , 1996, Annals of neurology.
[37] F. Bros.,et al. Cerebral blood flow and metabolism, L Edvinsson, E Mackenzie, J McCulloch. Raven Press, Paris (1993) , 1994 .
[38] N. Rollins,et al. Prevalence and clinical significance of dilated Virchow-Robin spaces in childhood. , 1993, Radiology.
[39] R O Weller,et al. Pathways of Fluid Drainage from the Brain ‐ Morphological Aspects and Immunological Significance in Rat and Man , 1992, Brain pathology.
[40] R O Weller,et al. Interrelationships of the pia mater and the perivascular (Virchow-Robin) spaces in the human cerebrum. , 1990, Journal of anatomy.
[41] R. Weller,et al. Anatomical relationships of the pia mater to cerebral blood vessels in man. , 1986, Journal of neurosurgery.
[42] R. Carare,et al. Lymphatic drainage of the brain and the pathophysiology of neurological disease , 2008, Acta Neuropathologica.
[43] D. C. Henckel,et al. Case report. , 1995, Journal.
[44] D. H. Padget,et al. The development of the cranial arteries in the human embryo. , 1948 .