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Granny trips down: is she carrying the big bad wolf?

Neurological sciences, 2013-11, Vol.34 (11), p.2077-2079

2013

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Follow-up of radiation skin injuries in patients after fluoroscopically-guided interventional procedures: A preliminary study

Physica medica, 2016-02, Vol.32, p.88-88

2016

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Nonmyxoid mediastinal lipoblastoma in a 2-year-old girl: Case report with US, CT, and MRI findings

Journal of ultrasound, 2011-03, Vol.14 (1), p.14-17

2011

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18F-FDG-PET/CT guiding to diagnosis of neurosarcoidosis

Revista española de medicina nuclear e imagen molecular, 2017-07, Vol.36 (4), p.269-270

2017

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18 F-FDG-PET/CT guiding to diagnosis of neurosarcoidosis

Revista española de medicina nuclear e imagen molecular, 2017-07, Vol.36 (4), p.269-270

2017

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B.299 - Follow-up of radiation skin injuries in patients after fluoroscopically-guided interventional procedures: A preliminary study

Physica medica, 2016-02, Vol.32, p.88-88

2016

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18 F-FDG-PET/CT guiding to diagnosis of neurosarcoidosis

Revista Española de medicina nuclear e imagen molecular (English ed.), 2017-07, Vol.36 (4), p.269-270

2017

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18F-FDG-PET/CT guiding to diagnosis of neurosarcoidosis

Revista Española de medicina nuclear e imagen molecular (English ed.), 2017-07, Vol.36 (4), p.269-270

2017

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Erratum: Brain targets: can you believe your own eyes?

The neuroradiology journal, 2014-06, Vol.27 (3), p.371-371

2014

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Clinical validity and utility of preconception expanded carrier screening for the management of reproductive genetic risk in IVF and general population

Human reproduction (Oxford), 2021-07, Vol.36 (7), p.2050-2061

2021

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Seminal and molecular evidence that sauna exposure affects human spermatogenesis

Human reproduction (Oxford), 2013-04, Vol.28 (4), p.877-885

2013

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Mosaic human preimplantation embryos and their developmental potential in a prospective, non-selection clinical trial

American journal of human genetics, 2021-12, Vol.108 (12), p.2238-2247

2021

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Regional protein expression in human Alzheimer's brain correlates with disease severity

Communications biology, 2019-02, Vol.2 (1), p.43-43, Article 43

2019

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Improved clinical utility of preimplantation genetic testing through the integration of ploidy and common pathogenic microdeletions analyses

Human reproduction (Oxford), 2023-04, Vol.38 (4), p.762-775

2023

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Widespread Decreases in Cerebral Copper Are Common to Parkinson's Disease Dementia and Alzheimer's Disease Dementia

Frontiers in aging neuroscience, 2021-03, Vol.13, p.641222-641222

2021

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Cerebral deficiency of vitamin B5 (d-pantothenic acid; pantothenate) as a potentially-reversible cause of neurodegeneration and dementia in sporadic Alzheimer’s disease

Biochemical and biophysical research communications, 2020-06, Vol.527 (3), p.676-681

2020

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Severe and Regionally Widespread Increases in Tissue Urea in the Human Brain Represent a Novel Finding of Pathogenic Potential in Parkinson's Disease Dementia

Frontiers in molecular neuroscience, 2021-10, Vol.14, p.711396-711396

2021

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Substantively Lowered Levels of Pantothenic Acid (Vitamin B5) in Several Regions of the Human Brain in Parkinson's Disease Dementia

Metabolites, 2021-08, Vol.11 (9), p.569

2021

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Graded perturbations of metabolism in multiple regions of human brain in Alzheimer's disease: Snapshot of a pervasive metabolic disorder

Biochimica et biophysica acta, 2016-06, Vol.1862 (6), p.1084-1092

2016

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P–530 The use of wide thresholds for detecting intermediate chromosomal CNV up to 80% doesn’t improve PGT-A ability to discriminate true mosaic from uniformly aneuploid embryos

Human reproduction (Oxford), 2021-08, Vol.36 (Supplement_1)

2021

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Brain urea increase is an early Huntington’s disease pathogenic event observed in a prodromal transgenic sheep model and HD cases

Proceedings of the National Academy of Sciences - PNAS, 2017-12, Vol.114 (52), p.E11293-E11302

2017

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Cerebral Vitamin B5 (D-Pantothenic Acid) Deficiency as a Potential Cause of Metabolic Perturbation and Neurodegeneration in Huntington's Disease

Metabolites, 2019-06, Vol.9 (6), p.113

2019

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Chronic administration of cholesterol oximes in mice increases transcription of cytoprotective genes and improves transcriptome alterations induced by alpha-synuclein overexpression in nigrostriatal dopaminergic neurons

Neurobiology of disease, 2014-09, Vol.69, p.263-275

2014

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P-536 Pre-selected for an award: Validation of a Next Generation Sequencing (NGS) workflow integrating simultaneous analysis of ploidy, microdeletions and de novo monogenic diseases for expanded preimplantation genetic testing (PGT)

Human reproduction (Oxford), 2021-08, Vol.36 (Supplement_1)

2021

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Granny trips down: is she carrying the big bad wolf?

Follow-up of radiation skin injuries in patients after fluoroscopically-guided interventional procedures: A preliminary study

Nonmyxoid mediastinal lipoblastoma in a 2-year-old girl: Case report with US, CT, and MRI findings

18F-FDG-PET/CT guiding to diagnosis of neurosarcoidosis

18 F-FDG-PET/CT guiding to diagnosis of neurosarcoidosis

B.299 - Follow-up of radiation skin injuries in patients after fluoroscopically-guided interventional procedures: A preliminary study

18 F-FDG-PET/CT guiding to diagnosis of neurosarcoidosis

18F-FDG-PET/CT guiding to diagnosis of neurosarcoidosis

Erratum: Brain targets: can you believe your own eyes?

Clinical validity and utility of preconception expanded carrier screening for the management of reproductive genetic risk in IVF and general population

Seminal and molecular evidence that sauna exposure affects human spermatogenesis

Mosaic human preimplantation embryos and their developmental potential in a prospective, non-selection clinical trial

Regional protein expression in human Alzheimer's brain correlates with disease severity

Improved clinical utility of preimplantation genetic testing through the integration of ploidy and common pathogenic microdeletions analyses

Widespread Decreases in Cerebral Copper Are Common to Parkinson's Disease Dementia and Alzheimer's Disease Dementia

Cerebral deficiency of vitamin B5 (d-pantothenic acid; pantothenate) as a potentially-reversible cause of neurodegeneration and dementia in sporadic Alzheimer’s disease

Severe and Regionally Widespread Increases in Tissue Urea in the Human Brain Represent a Novel Finding of Pathogenic Potential in Parkinson's Disease Dementia

Substantively Lowered Levels of Pantothenic Acid (Vitamin B5) in Several Regions of the Human Brain in Parkinson's Disease Dementia

Graded perturbations of metabolism in multiple regions of human brain in Alzheimer's disease: Snapshot of a pervasive metabolic disorder

P–530 The use of wide thresholds for detecting intermediate chromosomal CNV up to 80% doesn’t improve PGT-A ability to discriminate true mosaic from uniformly aneuploid embryos

Brain urea increase is an early Huntington’s disease pathogenic event observed in a prodromal transgenic sheep model and HD cases

Cerebral Vitamin B5 (D-Pantothenic Acid) Deficiency as a Potential Cause of Metabolic Perturbation and Neurodegeneration in Huntington's Disease

Chronic administration of cholesterol oximes in mice increases transcription of cytoprotective genes and improves transcriptome alterations induced by alpha-synuclein overexpression in nigrostriatal dopaminergic neurons

Single nuclei RNA-seq reveals a medium spiny neuron glutamate excitotoxicity signature prior to the onset of neuronal death in an ovine Huntington's disease model

P-536 Pre-selected for an award: Validation of a Next Generation Sequencing (NGS) workflow integrating simultaneous analysis of ploidy, microdeletions and de novo monogenic diseases for expanded preimplantation genetic testing (PGT)

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