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Pathogenic correlation between mosaic variegated aneuploidy 1 (MVA1) and a novel BUB1B variant: a reappraisal of a severe syndrome.
- Published in:
- Neurological Sciences, 2022, v. 43, n. 11, p. 6529, doi. 10.1007/s10072-022-06247-w
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- Publication type:
- Article
Autoimmune encephalitis and CSF anti-AMPA GluR3 antibodies in childhood: a case report and literature review.
- Published in:
- Neurological Sciences, 2022, v. 43, n. 9, p. 5237, doi. 10.1007/s10072-022-06170-0
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- Publication type:
- Article
Evidences of emerging pain consciousness during prenatal development: a narrative review.
- Published in:
- Neurological Sciences, 2022, v. 43, n. 6, p. 3523, doi. 10.1007/s10072-022-05968-2
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- Publication type:
- Article
West syndrome: a comprehensive review.
- Published in:
- Neurological Sciences, 2020, v. 41, n. 12, p. 3547, doi. 10.1007/s10072-020-04600-5
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- Publication type:
- Article
Resuming the obsolete term "small head": when microcephaly occurs without cognitive impairment.
- Published in:
- 2017
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- Publication type:
- journal article
Rediagnosing one of Smith's patients (John McCann) with "neuromas tumours" (1849).
- Published in:
- 2017
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- Publication type:
- journal article
Hypomelanosis of Ito: a round on the frequency and type of epileptic complications.
- Published in:
- Neurological Sciences, 2015, v. 36, n. 7, p. 1173, doi. 10.1007/s10072-014-2049-1
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- Publication type:
- Article
Microcephaly associated with Legg-Calvè-Perthes disease in two siblings.
- Published in:
- 2012
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- Publication type:
- journal article
Microcephaly associated with Legg-Calvè-Perthes disease in two siblings.
- Published in:
- Neurological Sciences, 2012, v. 33, n. 6, p. 1401, doi. 10.1007/s10072-011-0891-y
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- Publication type:
- Article
Voluntary selective big toe dorsal flection: pseudo-Babinski phenomenon?
- Published in:
- 2008
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- Publication type:
- Letter
Neonatal neurologic emergencies requiring access to paediatric emergency units: a retrospective observational study.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-13703-2
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- Publication type:
- Article
Observational study on the efficiency of Neonatal Emergency Transport in reducing mortality and morbidity indexes in Sicily.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-99477-5
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- Publication type:
- Article
Microcephaly, sensorineural deafness and Currarino triad with duplication-deletion of distal 7q.
- Published in:
- 2010
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- Publication type:
- journal article
Cutis tricolor: congenital hyper- and hypopigmented lesions in a background of normal skin with and without associated systemic features: further expansion of the phenotype.
- Published in:
- 2000
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- Publication type:
- journal article
Multiple coronary artery aneurysms in a child with neurofibromatosis type 1.
- Published in:
- 2000
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- Publication type:
- journal article
Microcephaly/Trigonocephaly, Intellectual Disability, Autism Spectrum Disorder, and Atypical Dysmorphic Features in a Boy with Xp22.31 Duplication.
- Published in:
- Molecular Syndromology, 2018, v. 9, n. 5, p. 253, doi. 10.1159/000493174
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- Publication type:
- Article
Oxidative Stress in Preterm Infants: Overview of Current Evidence and Future Prospects.
- Published in:
- Pharmaceuticals (14248247), 2020, v. 13, n. 7, p. 145, doi. 10.3390/ph13070145
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- Publication type:
- Article
Neonatal Hyperekplexia: Is It Still a Diagnostic Challenge? Evidence From a Systematic Review.
- Published in:
- Journal of Child Neurology, 2024, v. 39, n. 11/12, p. 415, doi. 10.1177/08830738241273425
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- Publication type:
- Article
Electrocardiographic Evaluation in Patients With Spinal Muscular Atrophy: A Case-Control Study.
- Published in:
- Journal of Child Neurology, 2018, v. 33, n. 7, p. 487, doi. 10.1177/0883073818767170
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- Publication type:
- Article
Mitochondria DNA Depletion Syndrome in a Infant with Multiple Congenital Malformations, Severe Myopathy, and Prolonged Postoperative Paralysis.
- Published in:
- Journal of Child Neurology, 2015, v. 30, n. 5, p. 654, doi. 10.1177/0883073814532546
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- Publication type:
- Article
Seizures and epilepsy in Sotos syndrome: Analysis of 19 Caucasian patients with long-term follow-up.
- Published in:
- Epilepsia (Series 4), 2012, v. 53, n. 6, p. e102, doi. 10.1111/j.1528-1167.2012.03418.x
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- Publication type:
- Article
Design and Validation of a Custom NGS Panel Targeting a Set of Lysosomal Storage Diseases Candidate for NBS Applications.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 18, p. 10064, doi. 10.3390/ijms221810064
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- Publication type:
- Article
Need for palliative care from birth to infancy in pediatric patients with neurological diseases.
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- Clinical & Experimental Pediatrics, 2023, v. 66, n. 8, p. 350, doi. 10.3345/cep.2023.00129
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- Publication type:
- Article
EXPLORING THE POTENTIAL ASSOCIATION BETWEEN DANDY WALKER SYNDROME AND ADIE'S PUPIL: A COMPREHENSIVE CASE STUDY AND SYSTEMATIC LITERATURE REVIEW.
- Published in:
- Euromediterranean Biomedical Journal, 2023, p. 103, doi. 10.3269/1970-5492.2023.18.22
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- Publication type:
- Article
ANTI-MOG ASSOCIATED ENCEPHALITIS: WHEN STEROID THERAPY IS NOT ENOUGH.
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- Euromediterranean Biomedical Journal, 2022, v. 17, p. 21, doi. 10.3269/1970-5492.2022.17.6
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- Publication type:
- Article
A novel GABRB3 variant in Dravet syndrome: Case report and literature review.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 11, p. 1, doi. 10.1002/mgg3.1461
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- Publication type:
- Article
Chromosome 15q BP3 to BP5 deletion is a likely locus for speech delay and language impairment: Report on a four‐member family and an unrelated boy.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 4, p. 1, doi. 10.1002/mgg3.1109
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- Publication type:
- Article
Pediatric Hashimoto's encephalopathy with peripheral nervous system involvement.
- Published in:
- Pediatrics International, 2014, v. 56, n. 3, p. 413, doi. 10.1111/ped.12262
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- Publication type:
- Article
Primary headache: Role of investigations in a cohort of young children and adolescents.
- Published in:
- Pediatrics International, 2011, v. 53, n. 6, p. 964, doi. 10.1111/j.1442-200X.2011.03493.x
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- Publication type:
- Article
Zellweger syndrome and secondary mitochondrial myopathy.
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- European Journal of Pediatrics, 2015, v. 174, n. 4, p. 557, doi. 10.1007/s00431-014-2431-2
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- Publication type:
- Article
From Neonatal Intensive Care to Neurocritical Care: Is It Still a Mirage? The Sicilian Multicenter Project.
- Published in:
- 2021
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- Publication type:
- journal article
Mosaic RASopathies: A review of disorders caused by somatic pathogenic variants in the genes of the RAS/MAPK pathway.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 4, p. 520, doi. 10.1002/ajmg.c.32021
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- Publication type:
- Article
Neurocutaneous syndromes in art and antiquities.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2021, v. 187, n. 2, p. 224, doi. 10.1002/ajmg.c.31917
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- Publication type:
- Article
Epilepsy in the setting of full trisomy 18: A multicenter study on 18 affected children with and without structural brain abnormalities.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 3, p. 288, doi. 10.1002/ajmg.c.31513
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- Publication type:
- Article
Early history of the different forms of neurofibromatosis from ancient Egypt to the British Empire and beyond: First descriptions, medical curiosities, misconceptions, landmarks, and the persons behind the syndromes.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 515, doi. 10.1002/ajmg.a.38486
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- Publication type:
- Article
A de novo 0.63 Mb 6q25.1 deletion associated with growth failure, congenital heart defect, underdeveloped cerebellar vermis, abnormal cutaneous elasticity and joint laxity.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2042, doi. 10.1002/ajmg.a.37118
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- Publication type:
- Article
Wide spectrum of congenital anomalies including choanal atresia, malformed extremities, and brain and spinal malformations in a girl with a de novo 5.6-Mb deletion of 13q12.11-13q12.13.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1734, doi. 10.1002/ajmg.a.36391
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- Publication type:
- Article
Klippel-Trenaunay syndrome in a boy with concomitant ipsilateral overgrowth and undergrowth.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1262, doi. 10.1002/ajmg.a.36414
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- Publication type:
- Article
Nevus vascularis mixtus (cutaneous vascular twin nevi) associated with intracranial vascular malformation of the Dyke-Davidoff-Masson type in two patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2870, doi. 10.1002/ajmg.a.35221
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- Publication type:
- Article
Sutures ultrasound: useful diagnostic screening for posterior plagiocephaly.
- Published in:
- Child's Nervous System, 2021, v. 37, n. 12, p. 3715, doi. 10.1007/s00381-021-05324-3
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- Publication type:
- Article
Neurocutaneous melanocytosis (melanosis).
- Published in:
- Child's Nervous System, 2020, v. 36, n. 10, p. 2571, doi. 10.1007/s00381-020-04770-9
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- Publication type:
- Article
Introduction to phacomatoses (neurocutaneous disorders) in childhood.
- Published in:
- Child's Nervous System, 2020, v. 36, n. 10, p. 2229, doi. 10.1007/s00381-020-04758-5
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- Publication type:
- Article
‘Infantile convulsions’ in the early nineteenth century. Abnormal brain blood flow and leeches, teething and gums’ scarification and food and purgatives: the historical contribution of John Clarke (1760-1815).
- Published in:
- Child's Nervous System, 2018, v. 34, n. 7, p. 1271, doi. 10.1007/s00381-018-3769-y
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- Publication type:
- Article
A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas.
- Published in:
- Child's Nervous System, 2017, v. 33, n. 6, p. 933, doi. 10.1007/s00381-017-3340-2
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- Publication type:
- Article
Early history of neurofibromatosis type 2 and related forms: earliest descriptions of acoustic neuromas, medical curiosities, misconceptions, landmarks and the pioneers behind the eponyms.
- Published in:
- 2017
- By:
- Publication type:
- Editorial
Evaluation of the basal ganglia in neurofibromatosis type 1.
- Published in:
- Child's Nervous System, 2014, v. 30, n. 2, p. 319, doi. 10.1007/s00381-013-2236-z
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- Publication type:
- Article
Generalised epilepsy with febrile seizures plus (GEFS): molecular analysis in a restricted area.
- Published in:
- Child's Nervous System, 2012, v. 28, n. 1, p. 141, doi. 10.1007/s00381-011-1592-9
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- Publication type:
- Article
A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1.
- Published in:
- Child's Nervous System, 2011, v. 27, n. 4, p. 635, doi. 10.1007/s00381-010-1282-z
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- Publication type:
- Article
Ehlers-Danlos syndrome and neurological features: a review.
- Published in:
- Child's Nervous System, 2011, v. 27, n. 3, p. 365, doi. 10.1007/s00381-010-1256-1
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- Publication type:
- Article
Usefulness of diffusion tensor imaging and fiber tractography in neurological and neurosurgical pediatric diseases.
- Published in:
- Child's Nervous System, 2010, v. 26, n. 8, p. 995, doi. 10.1007/s00381-010-1192-0
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- Publication type:
- Article