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Central Nervous System Agents in Medicinal Chemistry, ISSN 1871-5249, 06/2015, Volume 15, Issue 2, pp. 95 - 98
Journal Article
Journal of Biological Research, ISSN 1826-8838, 01/2019, Volume 92, Issue 1, pp. 17 - 23
The authors discuss the association of papilledema with Chiari I malformation (CMI) and syringomyelia on the basis of a clinical case studied by radiology,... 
Cerebellum | Brain | Headache | Pediatrics | Spinal cord | Brain stem | Pathogenesis | Headaches | Fistula | Biochemistry | Thyroid gland | Neurosurgery | Electrodes | Sinuses | Immunology | Analgesics | Computed tomography | Scoliosis | Tomography | Neck | Age | Vertebrae | Optic nerve | Hematology | Swelling | Patients | Neural crest | Magnetic resonance imaging | Asymmetry | Facial abnormalities | Papilledema | Syringomyelia | Chiari I malformation | Neural crest cells
Journal Article
Journal of Biological Research - Bollettino della Società Italiana di Biologia Sperimentale, ISSN 1826-8838, 07/2018, Volume 91, Issue 1
The authors discuss about the relationships between oculoauriculo- vertebral spectrum (OAVS), a malformative condition affecting eyes, ears and vertebral... 
Lactate to Pyruvate ratio | Oculo-Auriculo-Vertebral Spectrum | Pyruvicemia | Lactacidemia | Malformation | Progressive external ophthalmoplegia
Journal Article
Journal of Biological Research (Italy), ISSN 1826-8838, 2015, Volume 88, Issue 2, pp. 170 - 172
The authors report on six cases of gluten-sensitivity, also defined non-celiac gluten sensitivity, characterized by abdominal features (diarrhea, bloating,... 
Gluten sensitivity | Gluten-free diet | Non-celiac gluten sensitivity | Gliosis | HLA | EEG
Journal Article
Pediatria Medica e Chirurgica, ISSN 0391-5387, 2017, Volume 39, Issue 4, pp. 107 - 111
The Authors report on a patient with Kearns-Sayre syndrome, large mtDNA deletion (7/kb), facial abnormalities and severe central nervous system (CNS) white... 
SOX 10 gene | Waardenburg syndrome | White matter abnormalities | Kearns-Sayre syndrome | Neural crest cells | Kearns-Sayre Syndrome - physiopathology | DNA, Mitochondrial - genetics | Face - abnormalities | Humans | Kearns-Sayre Syndrome - genetics | Adolescent | Kearns-Sayre Syndrome - diagnosis | Male | White Matter - pathology
Journal Article
Pediatria Medica e Chirurgica, ISSN 0391-5387, 2015, Volume 37, Issue 3, pp. 8 - 12
We report on a female with oculo-auriculo-vertebral spectrum, low height, and on X-ray lambdoid suture synostosis, cerebral cyst/mild holoprosencephalia and... 
Fibroblast growth factor | Lambdoid synostosia | Osteocartilaginous defects | Oculo-auriculo-vertebral spectrum
Journal Article
La Pediatria medica e chirurgica : Medical and surgical pediatrics, ISSN 0391-5387, 12/2015, Volume 37, Issue 3, p. pmc.2015.123
Journal Article
La Pediatria Medica e Chirurgica, ISSN 0391-5387, 12/2014, Volume 36, Issue 5-6
The paper reported on a case of severe myoclonic epilepsy of infancy (SMEI) associated with a probable autoimmune lymphoproliferative syndrome variant... 
linear IgA disease | autoimmune lymphoproliferative syndrome | voltage-gated sodium channels | severe myoclonic epilepsy of infancy
Journal Article
Archives of Disease in Childhood, ISSN 0003-9888, 09/1980, Volume 55, Issue 9, pp. 743 - 744
Journal Article
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