Papers 6028
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#2Itaru HayakawaH-Index: 7
Last. Masaya KubotaH-Index: 16
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KARS encodes lysyl-tRNA synthetase, which is essential for protein translation. KARS mutations sometimes cause impairment of cytoplasmic and mitochondrial protein synthesis, and sometimes lead to progressive leukodystrophies with mitochondrial signature and psychomotor regression, and follow a rapid regressive course to premature death. There has been no disease-modifying therapy beyond supportive treatment. We present a 5-year-old male patient with an asymmetrical leukodystrophy who showed over...
#2Thiago Cardoso Vale (UFJF: Universidade Federal de Juiz de Fora)H-Index: 10
Last. Marcelo Masruha Rodrigues (UNIFESP: Federal University of São Paulo)H-Index: 3
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#1Priyanka Madaan (PGIMER: Post Graduate Institute of Medical Education and Research)H-Index: 7
#2Amrit Kaur (PGIMER: Post Graduate Institute of Medical Education and Research)H-Index: 1
Last. Jitendra Kumar Sahu (PGIMER: Post Graduate Institute of Medical Education and Research)H-Index: 12
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Background Protein phosphatase 2 regulatory subunit B′ delta (PPP2R5D)-related neurodevelopmental disorder is caused by pathogenic variations in the PPP2R5D gene, product of which is involved in dephosphorylation. This is a rare disorder with description limited to case reports. Its phenotypic spectrum has expanded over the last decade. null null null null Methods We report a child with a developmental and epileptic encephalopathy phenotype with a pathogenic PPP2R5D variant. This phenotype has n...
#1Oliver Maier (Boston Children's Hospital)H-Index: 11
#1Andrea Righini (Boston Children's Hospital)H-Index: 24
#2Giana Izzo (Boston Children's Hospital)H-Index: 5
Last. Cecilia Parazzini (Boston Children's Hospital)H-Index: 22
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Objective To the best of our knowledge, there have not been studies to address the issue of long-term follow-up of patients with prenatal diagnosis of isolated complete septum pellucidum agenesis (SPA). The aim of this study was to acquire information about the school-age outcome of such patients as a resource for counseling parents receiving this prenatal finding. null null null null Methods From a large fetal magnetic resonance (MR) database, we selected only those cases with isolated complete...
#1Giancarlo Natalucci (UZH: University of Zurich)H-Index: 12
1 CitationsSource
#1Giacomo BriscaH-Index: 11
#2Stefano Sotgiu (University of Sassari)H-Index: 40
Last. Matteo CataldiH-Index: 1
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Introduction In the last few months, some pediatric cases with neurological and neuroradiological pictures related to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infections have been reported, often associated with multisystem inflammatory syndrome (MIS-C). The most frequently encountered pediatric neurological complications seem to be postinfectious immune-mediated acute disseminated encephalomyelitis (ADEM)-like changes of the brain, myelitis, neural enhancement, and splenial ...
#1Tomer Stern (TAU: Tel Aviv University)
#2Liora Kornreich (TAU: Tel Aviv University)H-Index: 26
Last. Hadassa Goldberg (TAU: Tel Aviv University)
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Background We aimed to find the clinical significance of brain abnormalities on magnetic resonance imaging (MRI) in epilepsy and the lateralization of these findings with electroencephalogram (EEG). null null null null Methods We retrospectively analyzed the results of all EEGs and brain MRIs of 600 consecutive epilepsy patients from 1998 to 2020. null null null null Results Data were available for 563 cases (267 females). Ninety percent of the patients were 18 years old or younger. A total of 3...
#1Jessica Galli (University of Brescia)H-Index: 12
#2Erika Loi (University of Brescia)
Last. Elisa Fazzi (University of Brescia)H-Index: 50
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Aim The aim of this study was to detail the neurodevelopmental profile of subjects affected by ocular albinism (OA) and to collect data on GPR143 gene analysis. null null null null Design The design of the study involves a retrospective longitudinal observational case series. null null null null Methods We collected data on the neurodevelopmental profile of 13 children affected by OA from clinical annual assessments conducted for a period of 6 years after the first evaluation. We described visua...
#1Isabella HermanH-Index: 4
#2Daniel G. Calame (Boston Children's Hospital)H-Index: 2
Top fields of study
Diabetes mellitus