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Synchronous choroid plexus papilloma and Wilms tumor in a girl, disclosing a Li-Fraumeni syndrome.
- Published in:
- Hereditary Cancer in Clinical Practice, 2021, v. 19, n. 1, p. 1, doi. 10.1186/s13053-020-00158-7
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- Publication type:
- Article
Completion of disconnective surgery for refractory epilepsy in pediatric patients using robot-assisted MRI-guided laser interstitial thermal therapy.
- Published in:
- Journal of Neurosurgery: Pediatrics, 2023, v. 31, n. 1, p. 61, doi. 10.3171/2022.9.PEDS22258
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- Publication type:
- Article
Robot-assisted, real-time, MRI-guided laser interstitial thermal therapy for pediatric patients with hypothalamic hamartoma: surgical technique, pitfalls, and initial results.
- Published in:
- Journal of Neurosurgery: Pediatrics, 2022, v. 29, n. 6, p. 681, doi. 10.3171/2022.2.PEDS21516
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- Publication type:
- Article
Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 551, doi. 10.1186/s13023-014-0217-2
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- Publication type:
- Article
Thiamine transporter-2 deficiency: outcome and treatment monitoring.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-92
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- Publication type:
- Article
Thiamine transporter-2 deficiency: outcome and treatment monitoring.
- Published in:
- 2014
- By:
- Publication type:
- journal article
CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 10, p. 5180, doi. 10.3390/ijms22105180
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- Publication type:
- Article
Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy.
- Published in:
- International Journal of Molecular Sciences, 2018, v. 19, n. 2, p. 619, doi. 10.3390/ijms19020619
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- Publication type:
- Article
Volumetric study of brain MRI in a cohort of patients with neurotransmitter disorders.
- Published in:
- Neuroradiology, 2022, v. 64, n. 11, p. 2179, doi. 10.1007/s00234-022-02989-8
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- Publication type:
- Article
Early‐onset severe spinocerebellar ataxia 42 with neurodevelopmental deficits (SCA42ND): Case report, pharmacological trial, and literature review.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 256, doi. 10.1002/ajmg.a.61939
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- Publication type:
- Article
Okur‐Chung neurodevelopmental syndrome in a patient from Spain.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 20, doi. 10.1002/ajmg.a.61405
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- Publication type:
- Article
Trends and patterns in the use of computed tomography in children and young adults in Catalonia - results from the EPI-CT study.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Extra-temporal pediatric low-grade gliomas and epilepsy.
- Published in:
- Child's Nervous System, 2024, v. 40, n. 10, p. 3309, doi. 10.1007/s00381-024-06573-8
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- Publication type:
- Article
Delayed hemorrhage after pediatric stereo-electroencephalography: delayed occurrence or delayed diagnosis?
- Published in:
- Child's Nervous System, 2021, v. 37, n. 12, p. 3817, doi. 10.1007/s00381-021-05297-3
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- Publication type:
- Article
Targeted therapy for pediatric low-grade glioma.
- Published in:
- Child's Nervous System, 2021, v. 37, n. 8, p. 2511, doi. 10.1007/s00381-021-05138-3
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- Publication type:
- Article
Highly realistic simulation for robot-assisted hypothalamic hamartoma real-time MRI-guided laser interstitial thermal therapy (LITT).
- Published in:
- Child's Nervous System, 2020, v. 36, n. 6, p. 1131, doi. 10.1007/s00381-020-04563-0
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- Publication type:
- Article
Structural connectivity in ventral language pathways characterizes non-verbal autism.
- Published in:
- Brain Structure & Function, 2022, v. 227, n. 5, p. 1817, doi. 10.1007/s00429-022-02474-1
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- Publication type:
- Article
Pulmonary aneurysms in microscopic polyangiitis.
- Published in:
- Clinical Rheumatology, 2003, v. 22, n. 6, p. 498, doi. 10.1007/s10067-003-0765-7
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- Publication type:
- Article
Agenesis of the corpus callosum in a newborn with Turner mosaicism.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Epilepsy in LAMA2‐related muscular dystrophy: An electro‐clinico‐radiological characterization.
- Published in:
- Epilepsia (Series 4), 2020, v. 61, n. 5, p. 971, doi. 10.1111/epi.16493
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- Publication type:
- Article
Circulating Cell-Free Mitochondrial DNA in Cerebrospinal Fluid as a Biomarker for Mitochondrial Diseases.
- Published in:
- Clinical Chemistry, 2021, v. 67, n. 8, p. 1113, doi. 10.1093/clinchem/hvab091
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- Publication type:
- Article
The diagnosis of the first-documented intragenic KANSL1 microduplication patient broadens the genetic spectrum of Koolen de Vries syndrome.
- Published in:
- Clinical Genetics, 2022, v. 101, n. 5/6, p. 575, doi. 10.1111/cge.14124
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- Publication type:
- Article
Leigh syndrome is the main clinical characteristic of PTCD3 deficiency.
- Published in:
- Brain Pathology, 2023, v. 33, n. 3, p. 1, doi. 10.1111/bpa.13134
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- Publication type:
- Article
Severity of GNAO1‐Related Disorder Correlates with Changes in G‐Protein Function.
- Published in:
- Annals of Neurology, 2023, v. 94, n. 5, p. 987, doi. 10.1002/ana.26758
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- Publication type:
- Article
Early identification of brain injury in infants with hypoxic ischemic encephalopathy at high risk for severe impairments: accuracy of MRI performed in the first days of life.
- Published in:
- BMC Pediatrics, 2014, v. 14, n. 1, p. 177, doi. 10.1186/1471-2431-14-177
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- Publication type:
- Article
Early identification of brain injury in infants with hypoxic ischemic encephalopathy at high risk for severe impairments: accuracy of MRI performed in the first days of life.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Erratum to: Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG).
- Published in:
- 2017
- By:
- Publication type:
- Erratum
Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG).
- Published in:
- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 5, p. 709, doi. 10.1007/s10545-017-0028-4
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- Publication type:
- Article
Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in the FOLR1 gene.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 6, p. 795, doi. 10.1007/s10545-010-9196-1
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- Publication type:
- Article
Seizure control in tumor‐associated epilepsy secondary to BRAF inhibition.
- Published in:
- Pediatric Blood & Cancer, 2023, v. 70, n. 4, p. 1, doi. 10.1002/pbc.30073
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- Publication type:
- Article
Craniospinal irradiation as a salvage treatment for metastatic relapsed DIPG.
- Published in:
- 2021
- By:
- Publication type:
- Letter
Sinonasal adenocarcinoma involving the anterior cranial fossa: An exceptional entity in the pediatric population.
- Published in:
- 2020
- By:
- Publication type:
- Case Study
Tissue sampling in diffuse intrinsic pontine glioma (DIPG) at progression.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome.
- Published in:
- Acta Neuropathologica, 2020, v. 140, n. 6, p. 971, doi. 10.1007/s00401-020-02223-w
- By:
- Publication type:
- Article
Vanishing diffuse leptomeningeal contrast enhancement in an infant with choroid plexus papilloma.
- Published in:
- Acta Neurochirurgica, 2019, v. 161, n. 2, p. 351, doi. 10.1007/s00701-018-03781-5
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- Publication type:
- Article
Frameless robot-assisted stereoelectroencephalography for refractory epilepsy in pediatric patients: accuracy, usefulness, and technical issues.
- Published in:
- Acta Neurochirurgica, 2018, v. 160, n. 12, p. 2489, doi. 10.1007/s00701-018-3720-8
- By:
- Publication type:
- Article
Diffuse Leptomeningeal Glioneural Tumour Simulating Tuberculous Meningitis in a 13-Year-Old Girl.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Cerebral Proliferative Angiopathy in a Child.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
A Severe Valproate Overdose With Complete Recovery in a Newborn.
- Published in:
- Journal of Child Neurology, 2012, v. 27, n. 8, p. 1072, doi. 10.1177/0883073811431497
- By:
- Publication type:
- Article
Expanding the phenotype of X‐linked SSR4–CDG: Connective tissue implications.
- Published in:
- Human Mutation, 2021, v. 42, n. 2, p. 142, doi. 10.1002/humu.24151
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- Publication type:
- Article
Aseptic or aborted meningitis by stereoelectroencephalografy (SEEG) that presents as paralysis of the third cranial nerve contralateral to the implantation.
- Published in:
- Stereotactic & Functional Neurosurgery, 2017, v. 95, p. 417
- By:
- Publication type:
- Article
Implantation of deep brain electrodes assisted by the Neuromate® (Renishaw®) robot for stereoelectroencephalography (SEEG). Initial experience in a paediatric hospital.
- Published in:
- Stereotactic & Functional Neurosurgery, 2017, v. 95, p. 418
- By:
- Publication type:
- Article
Neuromate®(Renishaw®) robot assisted pallidal stimulation surgery in paediatric patients: accuracy and clinical results. Initial experience.
- Published in:
- Stereotactic & Functional Neurosurgery, 2017, v. 95, p. 182
- By:
- Publication type:
- Article
The impact of 1.5-T intraoperative magnetic resonance imaging in pediatric tumor surgery: Safety, utility, and challenges.
- Published in:
- Frontiers in Oncology, 2023, v. 12, p. 1, doi. 10.3389/fonc.2022.1021335
- By:
- Publication type:
- Article
Advanced Optical Microscopy: Unveiling Functional Insights Regarding a Novel PPP2R1A Variant and Its Unreported Phenotype.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 18, p. 13699, doi. 10.3390/ijms241813699
- By:
- Publication type:
- Article
Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency.
- Published in:
- Movement Disorders, 2012, v. 27, n. 10, p. 1295, doi. 10.1002/mds.25008
- By:
- Publication type:
- Article
Epidemiología y clasificación de los quistes aracnoideos en niños.
- Published in:
- Neurocirugía, 2015, v. 26, n. 5, p. 234, doi. 10.1016/j.neucir.2015.02.007
- By:
- Publication type:
- Article