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Journal Article
Blood, ISSN 0006-4971, 11/2018, Volume 132, Issue Supplement 1, pp. 1766 - 1766
Abstract Current prognostic scoring systems are not able to easily integrate clinical, histological and molecular data in primary myelofibrosis (PMF) as they... 
Journal Article
American Journal of Hematology, ISSN 0361-8609, 11/2019, Volume 94, Issue 11, pp. 1193 - 1199
Lymphoplasmacytic lymphoma (LPL) is usually associated with a serum IgM paraprotein, corresponding to Waldenström's Macroglobulinemia (WM). Cases presenting... 
Journal Article
PLoS ONE, ISSN 1932-6203, 02/2013, Volume 8, Issue 2, p. e57462
Journal Article
Neurological Sciences, ISSN 1590-1874, 2/2015, Volume 36, Issue 2, pp. 323 - 330
Retinal vasculopathy with cerebral leukodystrophy (RVCL) is an adult-onset disorder caused by C-terminal heterozygous frameshift (fs) mutations in the human... 
Neurology | Cerebral calcifications | Medicine & Public Health | Retinal vasculopathy with cerebral leukodystrophy | Systemic microangiopathy | TREX1 | Brain pseudotumoral lesion | Hereditary systemic angiopathy | Neurosurgery | Psychiatry | Neuroradiology | TUMOR | CEREBRORETINAL VASCULOPATHY | NEPHROPATHY | NEUROSCIENCES | CLINICAL NEUROLOGY | STROKE | HEREDITARY SYNDROME | AICARDI-GOUTIERES-SYNDROME | LUPUS | VESSEL DISEASES | DNA EXONUCLEASE TREX1 | RETINOPATHY | Retinal Diseases - genetics | Frameshift Mutation | Vascular Diseases - pathology | Follow-Up Studies | Humans | Male | Retinal Diseases - metabolism | Tomography, X-Ray Computed | Phosphoproteins - metabolism | Cell Nucleus - metabolism | Cell Nucleus - pathology | DNA Mutational Analysis | Retinal Diseases - pathology | Adult | Exodeoxyribonucleases - genetics | Cytosol - pathology | Vascular Diseases - drug therapy | Fibroblasts - metabolism | Hereditary Central Nervous System Demyelinating Diseases - genetics | Cell Line | Vascular Diseases - genetics | Phosphoproteins - genetics | Fibroblasts - pathology | Hereditary Central Nervous System Demyelinating Diseases - metabolism | Magnetic Resonance Imaging | Microscopy, Confocal | Hereditary Central Nervous System Demyelinating Diseases - pathology | Exodeoxyribonucleases - metabolism | Cytosol - metabolism | Retinal Diseases - drug therapy | Vascular Diseases - metabolism | Hereditary Central Nervous System Demyelinating Diseases - drug therapy | Genetic aspects | Analysis | Genetic screening | Resveratrol
Journal Article
BMJ Case Reports, ISSN 1757-790X, 2018, Volume 2018, p. bcr-2017-223390
Craniometaphyseal dysplasia (CMD) is a rare condition characterised by progressive, diffuse hyperostosis of cranial and long bones, with compression of cranial... 
Nervous system | Multiple sclerosis | Spinal cord | Mutation | Biopsy | Genes
Journal Article
Hematological Oncology, ISSN 0278-0232, 06/2014, Volume 32, Issue 2, pp. 107 - 109
Journal Article
American Journal of Clinical Pathology, ISSN 0002-9173, 04/2013, Volume 139, Issue 4, p. 555
Journal Article
Journal Article
Folia Neuropathologica, ISSN 1641-4640, 2012, Volume 50, Issue 3, pp. 293 - 299
The presence of an angiitis process in the central nervous system (CNS) characterizes different groups of conditions: from idiopathic pachymeningitis to... 
PACNS | EBV-related disorders | Granulomatous angiitis | granulomatous angiitis | PATIENT | VASCULITIS | PATHOLOGY | NEUROSCIENCES
Journal Article
Cancer Genetics, ISSN 2210-7762, 2014, Volume 207, Issue 1, pp. 12 - 18
Journal Article
Folia neuropathologica, 2012, Volume 50, Issue 3, p. 293
The presence of an angiitis process in the central nervous system (CNS) characterizes different groups of conditions: from idiopathic pachymeningitis to... 
Young Adult | Vasculitis, Central Nervous System - surgery | Vasculitis, Central Nervous System - diagnosis | Humans | Fatal Outcome | Adult | Female
Journal Article
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