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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).
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- 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.
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- 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
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- 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
First descriptions of tuberous sclerosis by Désiré‐Magloire Bourneville (1840–1909).
- Published in:
- 2018
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- Publication type:
- Editorial
Highlights on Genomics Applications for Lysosomal Storage Diseases.
- Published in:
- Cells (2073-4409), 2020, v. 9, n. 8, p. 1902, doi. 10.3390/cells9081902
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- Publication type:
- Article
Gluten Psychosis: Confirmation of a New Clinical Entity.
- Published in:
- 2015
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- Publication type:
- Journal Article
Hypertrichosis Cubiti (Hairy Elbow Syndrome): A Clue to a Malformation Syndrome.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2005, v. 18, n. 10, p. 1019, doi. 10.1515/jpem.2005.18.10.1019
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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
Simple febrile seizures: new cut off for the duration of the crises.
- Published in:
- Acta Neurologica Belgica, 2023, v. 123, n. 4, p. 1339, doi. 10.1007/s13760-023-02211-3
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- Publication type:
- Article
Molecular Dynamic Simulations to Determine Individualized Therapy: Tetrabenazine for the GNAO1 Encephalopathy E246K Variant.
- Published in:
- Molecular Diagnosis & Therapy, 2024, v. 28, n. 3, p. 329, doi. 10.1007/s40291-024-00706-0
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- Publication type:
- Article
Comment on: "Steps to Improve Precision Medicine in Epilepsy": Are we all Agreed on the Definition?
- Published in:
- Molecular Diagnosis & Therapy, 2024, v. 28, n. 1, p. 129, doi. 10.1007/s40291-023-00688-5
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- Publication type:
- Article
GLUT-1DS resistant to ketogenic diet: from clinical feature to in silico analysis. An exemplificative case report with a literature review.
- Published in:
- Neurogenetics, 2024, v. 25, n. 2, p. 69, doi. 10.1007/s10048-023-00742-8
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- Publication type:
- Article
In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS).
- Published in:
- Neurogenetics, 2018, v. 19, n. 2, p. 77, doi. 10.1007/s10048-018-0540-1
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- Publication type:
- Article
Natural history of neurofibromatosis type 2 with onset before the age of 1 year.
- Published in:
- Neurogenetics, 2013, v. 14, n. 2, p. 89, doi. 10.1007/s10048-013-0354-0
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- Publication type:
- Article
Dermoscopy of facial angiofibromas in Fitzpatrick II‐III phototype subjects affected by tuberous sclerosis complex.
- Published in:
- Skin Research & Technology, 2023, v. 29, n. 10, p. 1, doi. 10.1111/srt.13481
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- Publication type:
- Article
Lipoid Proteinosis: A Case Report.
- Published in:
- Pediatric Dermatology, 1997, v. 14, n. 1, p. 22, doi. 10.1111/j.1525-1470.1997.tb00421.x
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- Publication type:
- Article
Urea/Creatinine Ratio's Correlation with Creatine Kinase Normalization in Pediatric COVID-19 Patients with Myositis: Evaluating Prognostic and Predictive Value.
- Published in:
- Infectious Disease Reports, 2024, v. 16, n. 1, p. 13, doi. 10.3390/idr16010002
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- Publication type:
- Article
Hormesis, cellular stress response and neuroinflammation in schizophrenia: Early onset versus late onset state.
- Published in:
- Journal of Neuroscience Research, 2017, v. 95, n. 5, p. 1182, doi. 10.1002/jnr.23967
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- Publication type:
- Article
Pseudotumor Cerebri Pathophysiology: The Likely Role of Aldosterone.
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- Headache: The Journal of Head & Face Pain, 2014, v. 54, n. 7, p. 1229, doi. 10.1111/head.12381
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- Publication type:
- Article
Acute deep vein thrombosis (DVT) of the lower limbs in a 32-year-old man with chronic hypoplasia of the inferior vena cava (HIVC) without risk factors.
- Published in:
- 2016
- By:
- Publication type:
- journal 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
Apparent preferential loss of heterozygosity at TSC2 over TSC1 chromosomal region in tuberous sclerosis hamartomas.
- Published in:
- Genes, Chromosomes & Cancer, 1996, v. 15, n. 1, p. 18, doi. 10.1002/(SICI)1098-2264(199601)15:1<18::AID-GCC3>3.0.CO;2-7
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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
Recurrent obstructive hydrocephalus in a 4-month-old infant.
- Published in:
- Child's Nervous System, 2010, v. 26, n. 1, p. 133, doi. 10.1007/s00381-009-1006-4
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- Publication type:
- Article
Two siblings with a homozygous MTHFR C677T (G80A-RFC1) mutation and stroke.
- Published in:
- Child's Nervous System, 2009, v. 25, n. 3, p. 361, doi. 10.1007/s00381-008-0724-3
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- Publication type:
- Article
Neurofibromatosis type 1 and infantile spasms.
- Published in:
- Child's Nervous System, 2009, v. 25, n. 2, p. 211, doi. 10.1007/s00381-008-0706-5
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- Publication type:
- Article
Infantile spasms in the setting of Sturge–Weber syndrome.
- Published in:
- Child's Nervous System, 2009, v. 25, n. 1, p. 111, doi. 10.1007/s00381-008-0705-6
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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.
- Published in:
- Euromediterranean Biomedical Journal, 2022, v. 17, p. 21, doi. 10.3269/1970-5492.2022.17.6
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- Publication type:
- Article
Tuberculosis of the ankle in childhood: Clinical, roentgenographic and computer tomography findings.
- Published in:
- Clinical Pediatrics, 1997, v. 36, n. 9, p. 529, doi. 10.1177/000992289703600906
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- Publication type:
- Article
Multiple Sclerosis with Onset at 35 Months of Age.
- Published in:
- Clinical Pediatrics, 1996, v. 35, n. 4, p. 209, doi. 10.1177/000992289603500406
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- Publication type:
- 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
- By:
- Publication type:
- Article
PURA -Related Neurodevelopmental Disorders with Epilepsy Treated with Ketogenic Diet: A Case-Based Review.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Melorheostosis: Case Report With 20-Year Follow-up.
- Published in:
- Orthopedics, 2008, v. 31, n. 5, p. 498, doi. 10.3928/01477447-20080501-21
- By:
- Publication type:
- Article
Benign and severe early-life seizures: a round in the first year of life.
- Published in:
- Italian Journal of Pediatrics, 2018, v. 44, n. 1, p. N.PAG, doi. 10.1186/s13052-018-0491-z
- By:
- Publication type:
- Article
Clinical spectrum of woolly hair: indications for cerebral involvement.
- Published in:
- Italian Journal of Pediatrics, 2017, v. 43, p. 1, doi. 10.1186/s13052-017-0417-1
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- Publication type:
- Article
Ataxia in children: early recognition and clinical evaluation.
- Published in:
- Italian Journal of Pediatrics, 2017, v. 43, p. 1, doi. 10.1186/s13052-016-0325-9
- By:
- Publication type:
- Article
Congenital muscular dystrophy: from muscle to brain.
- Published in:
- Italian Journal of Pediatrics, 2016, v. 42, p. 1, doi. 10.1186/s13052-016-0289-9
- By:
- Publication type:
- Article
Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Hydranencephaly: cerebral spinal fluid instead of cerebral mantles.
- Published in:
- 2014
- By:
- Publication type:
- Journal Article
Hydranencephaly: cerebral spinal fluid instead of cerebral mantles.
- Published in:
- Italian Journal of Pediatrics, 2014, v. 40, n. 1, p. 1, doi. 10.1186/s13052-014-0079-1
- By:
- Publication type:
- Article
Neonatal ischemic limb lesions: From etiology to topical nitroglycerine. A case series analysis.
- Published in:
- Dermatologic Therapy, 2022, v. 35, n. 5, p. 1, doi. 10.1111/dth.15426
- By:
- Publication type:
- Article
From Neonatal Intensive Care to Neurocritical Care: Is It Still a Mirage? The Sicilian Multicenter Project.
- Published in:
- 2021
- By:
- Publication type:
- journal article