Characterisation of the retinal phenotype using multimodal imaging in novel compound heterozygote variants of CYP2U1
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A. Bird | D. Schorderet | M. Guipponi | F. Munier | V. Vaclavik | S. Antonarakis | B. Rossillion | E. Ranza | Frank Holzer | C. Dysli | F. Sallo | Francis L. Munier | MD PhD Ferenc B Sallo | MD PhD Chantal Dysli | MD Franz Josef Holzer | MD Emmanuelle Ranza | MD Michel Guipponi | E. ProfStylianos | Antonarakis | Prof | Alan C Bird | Beatrice Rossillion | Alan C. Bird
[1] J. Zenteno,et al. Clinical-genetic findings in a group of subjects with macular dystrophies due to mutations in rare inherited retinopathy genes , 2022, Graefe's Archive for Clinical and Experimental Ophthalmology.
[2] A. Durr,et al. Implication of folate deficiency in CYP2U1 loss of function , 2021, The Journal of experimental medicine.
[3] P. Charbel Issa,et al. Mitochondrial Retinopathy. , 2021, Ophthalmology. Retina.
[4] Marin L. Gantner,et al. Serine biosynthesis defect due to haploinsufficiency of PHGDH causes retinal disease , 2021, Nature Metabolism.
[5] A. Durr,et al. Pseudoxanthoma elasticum overlaps hereditary spastic paraplegia type 56 , 2020, Journal of internal medicine.
[6] J. Dowling,et al. A connectomics approach to understanding a retinal disease , 2020, Proceedings of the National Academy of Sciences.
[7] T. Peto,et al. Genetic disruption of serine biosynthesis is a key driver of macular telangiectasia type 2 aetiology and progression , 2020, bioRxiv.
[8] J. Pedroso,et al. Ophthalmological changes in hereditary spastic paraplegia and other genetic diseases with spastic paraplegia , 2019, Journal of the Neurological Sciences.
[9] Marin L. Gantner,et al. Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy. , 2019, The New England journal of medicine.
[10] E. Chew,et al. Progression characteristics of ellipsoid zone loss in macular telangiectasia type 2 , 2019, Acta ophthalmologica.
[11] I. Constable,et al. Effect of Ciliary Neurotrophic Factor on Retinal Neurodegeneration in Patients with Macular Telangiectasia Type 2: A Randomized Clinical Trial. , 2019, Ophthalmology.
[12] György Hajnóczky,et al. Coming together to define membrane contact sites , 2019, Nature Communications.
[13] P. Bernstein,et al. Genetic Penetrance of Macular Telangiectasia Type 2 , 2018, JAMA ophthalmology.
[14] Martin Hammer,et al. Fluorescence Lifetime Imaging Ophthalmoscopy (FLIO) of Macular Pigment , 2018, Investigative ophthalmology & visual science.
[15] A. Durr,et al. CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56 , 2018, Human mutation.
[16] Martin Hammer,et al. Fluorescence Lifetime Imaging Ophthalmoscopy: A Novel Way to Assess Macular Telangiectasia Type 2. , 2017, Ophthalmology. Retina.
[17] E. Chew,et al. ABNORMAL RETINAL REFLECTIVITY TO SHORT-WAVELENGTH LIGHT IN TYPE 2 IDIOPATHIC MACULAR TELANGIECTASIA , 2017, Retina.
[18] E. Chew,et al. CHARACTERISTICS OF PIGMENTED LESIONS IN TYPE 2 IDIOPATHIC MACULAR TELANGIECTASIA , 2014, Retina.
[19] U. Grünert,et al. Disruption of De Novo Serine Synthesis in Müller Cells Induced Mitochondrial Dysfunction and Aggravated Oxidative Damage , 2018, Molecular Neurobiology.
[20] Sebastian Wolf,et al. FUNDUS AUTOFLUORESCENCE LIFETIMES AND CENTRAL SEROUS CHORIORETINOPATHY , 2017, Retina.
[21] H. Arai,et al. An atypical case of SPG56/CYP2U1-related spastic paraplegia presenting with delayed myelination , 2017, Journal of Human Genetics.
[22] M. Hammer,et al. Fluorescence lifetime imaging ophthalmoscopy , 2017, Progress in Retinal and Eye Research.
[23] Melanie Bahlo,et al. Genome-wide analyses identify common variants associated with macular telangiectasia type 2 , 2017, Nature Genetics.
[24] B. Garavaglia,et al. Long-term follow-up in spastic paraplegia due to SPG56/CYP2U1: age-dependency rather than genetic variability? , 2017, Journal of Neurology.
[25] T. Hornemann,et al. Localization of 1-deoxysphingolipids to mitochondria induces mitochondrial dysfunction[S] , 2016, Journal of Lipid Research.
[26] M. Cowley,et al. Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing , 2016, neurogenetics.
[27] R. Schüle,et al. CYP2U1 mutations in two Iranian patients with activity induced dystonia, motor regression and spastic paraplegia. , 2016, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
[28] F. Pierelli,et al. Pigmentary degenerative maculopathy as prominent phenotype in an Italian SPG56/CYP2U1 family , 2016, Journal of Neurology.
[29] A. Tessa,et al. Hereditary spastic paraplegia: Novel mutations and expansion of the phenotype variability in SPG56. , 2015, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
[30] A. Bird,et al. Macular Telangiectasia Type 2 Without Clinically Detectable Vasculopathy. , 2015, JAMA ophthalmology.
[31] A. Merrill,et al. 1-Deoxysphingolipids Encountered Exogenously and Made de Novo: Dangerous Mysteries inside an Enigma* , 2015, The Journal of Biological Chemistry.
[32] G. Stevanin,et al. Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology , 2015, Human Genetics.
[33] Bale,et al. Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.
[34] F. Santorelli,et al. Hereditary spastic paraplegia: Clinical-genetic characteristics and evolving molecular mechanisms , 2014, Experimental Neurology.
[35] Gwénolé Quellec,et al. Quantitative analysis of fluorescence lifetime measurements of the macula using the fluorescence lifetime imaging ophthalmoscope in healthy subjects. , 2014, Investigative ophthalmology & visual science.
[36] N. Bresolin,et al. Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis , 2014, Journal of Neurology.
[37] J. Fink,et al. Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms , 2013, Acta Neuropathologica.
[38] Emily Y. Chew,et al. Macular telangiectasia type 2 , 2013, Progress in Retinal and Eye Research.
[39] G. Gyapay,et al. Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. , 2012, American journal of human genetics.
[40] Catherine Egan,et al. The IS/OS junction layer in the natural history of type 2 idiopathic macular telangiectasia. , 2012, Investigative ophthalmology & visual science.
[41] A. Destée,et al. Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy. , 2012, Brain : a journal of neurology.
[42] Catherine Egan,et al. "En face" OCT imaging of the IS/OS junction line in type 2 idiopathic macular telangiectasia. , 2012, Investigative ophthalmology & visual science.
[43] Krzysztof Kiryluk,et al. Identification of a Potential Susceptibility Locus for Macular Telangiectasia Type 2 , 2012, PloS one.
[44] Irene Leung,et al. The Prevalence of Type 2 Idiopathic Macular Telangiectasia in Two African Populations , 2012, Ophthalmic epidemiology.
[45] Tunde Peto,et al. Analysis of candidate genes for macular telangiectasia type 2 , 2010, Molecular vision.
[46] T. Hornemann,et al. Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I. , 2010, American journal of human genetics.
[47] Ronald Klein,et al. The prevalence of macular telangiectasia type 2 in the Beaver Dam eye study. , 2010, American journal of ophthalmology.
[48] J. Cruysberg,et al. Patients with Sjögren-Larsson syndrome lack macular pigment. , 2010, Ophthalmology.
[49] R. Guymer,et al. THE PREVALENCE ESTIMATES OF MACULAR TELANGIECTASIA TYPE 2: The Melbourne Collaborative Cohort Study , 2010, Retina.
[50] T. Hornemann,et al. Hereditary Sensory Neuropathy Type 1 Is Caused by the Accumulation of Two Neurotoxic Sphingolipids*♦ , 2010, The Journal of Biological Chemistry.
[51] M. Crossland,et al. FIXATION STABILITY MEASUREMENT USING THE MP1 MICROPERIMETER , 2009, Retina.
[52] M. Taimi,et al. CYP2U1, a novel human thymus- and brain-specific cytochrome P450, catalyzes omega- and (omega-1)-hydroxylation of fatty acids. , 2004, The Journal of biological chemistry.
[53] B. Blodi,et al. Idiopathic juxtafoveolar retinal telangiectasis , 1993 .