Search Results - "Alfei E"

Low-dose everolimus as an effective therapy for unresectable giant cardiac rhabdomyoma in a preterm infant: a case report.

Authors: Hajduk, Katarzyna Gil, Aleksandra Śliwka, Joanna et al.

Source: Egyptian Pediatric Association Gazette. 7/14/2026, Vol. 74 Issue 1, p1-7. 7p.

Family with BCL11B Related Dystonia and Movement Disorders.

Authors: Martindale, Jaclyn M. Chapman, Leah Lane, Virginia et al.

Source: Movement Disorders Clinical Practice. May2025, Vol. 12 Issue 5, p699-703. 5p.

Hereditary Spastic Paraplegia Type 7 With Early-Onset Parkinsonism Responsive to Subthalamic Deep Brain Stimulation.

Authors: Sachithanandan, Sayooja Pisharody, Krishnakumar Vijayaraghavan, Asish et al.

Source: Annals of Indian Academy of Neurology. Nov/Dec2025, Vol. 28 Issue 6, p925-927. 3p.

Further evidence of RNU4ATAC variants causing Joubert syndrome with skeletal involvement.

Authors: D'Abrusco F Gana S Alfei E et al.

Source: Journal of medical genetics [J Med Genet] 2025 Nov 21; Vol. 62 (12), pp. 794-797. Date of Electronic Publication: 2025 Nov 21.

Publication Type: Journal Article

Journal Info: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

The Predictive Power of Early Socio-Emotional Skills on Behavioral Outcomes in Very Preterm Preschoolers: A Longitudinal Study.

Authors: Ionio, Chiara Colombo, Caterina Cavigioli, Francesco et al.

Source: Pediatric Reports. Apr2026, Vol. 17 Issue 2, p60. 11p.

Endocannabinoid Enhancement via MAGL Inhibition in CDKL5 Deficiency: Selective Cellular Benefits and Domain-Specific Functional Effects in Adult Cdkl5 KO Mice.

Authors: Loi, Manuela Mottolese, Nicola Medici, Giorgio et al.

Source: International Journal of Molecular Sciences. Mar2026, Vol. 27 Issue 6, p2773. 26p.

Atypical Manifestations of Cowden Syndrome in Pediatric Patients.

Authors: Zelenova, Ekaterina Belysheva, Tatiana Sharapova, Elena et al.

Source: Diagnostics (2075-4418). Jun2025, Vol. 15 Issue 12, p1456. 20p.

Nighttime Primary Headaches in Children: Beyond Hypnic Headache, a Comprehensive Review.

Authors: Baldo, Beatrice Bonemazzi, Ilaria Morea, Antonella et al.

Source: Life (2075-1729). Aug2025, Vol. 15 Issue 8, p1198. 20p.

A Newborn with Cleft Palate Associated with PTEN Hamartoma Tumor Syndrome.

Authors: Nestler, Ulf Gräfe, Daniel Strehlow, Vincent et al.

Source: Clinics & Practice. Jan2025, Vol. 15 Issue 1, p22. 9p.

Menkes disease complicated by concurrent ACY1 deficiency: A case report.

Authors: Mauri A Saielli LA Alfei E et al.

Source: Frontiers in genetics [Front Genet] 2023 Mar 02; Vol. 14, pp. 1077625. Date of Electronic Publication: 2023 Mar 02 (Print Publication: 2023).

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE

Dynamic evolution of fetal cardiac rhabdomyomas: prenatal diagnosis and postnatal echocardiographic insights.

Authors: Kavgacı, Akif Arı, Mehmet Emre

Source: European Journal of Pediatrics. Jun2025, Vol. 184 Issue 6, p1-6. 6p.

Comparison of Maternal and Fetal Plasma X Box Binding Protein 1 Levels Between Pregnancies With Fetal Growth Retardation and Healthy Controls.

Authors: Ünlü, Sena Bozbay, Nizamettin Akyürek, Fikret et al.

Source: American Journal of Reproductive Immunology. May2025, Vol. 93 Issue 5, p1-6. 6p.

A case of female-restricted Wieacker-Wolff syndrome with heart and endocrinological involvement.

Authors: Decio, Alice Marelli, Susan Mambretti, Fabiana et al.

Source: Neurological Sciences. Aug2024, Vol. 45 Issue 8, p4077-4081. 5p.

Subjects: Arthrogryposis, Type 2 diabetes, Syndromes

Etiological research in pediatric multiple sclerosis: A tool to assess environmental exposures (PEDiatric Italian Genetic and enviRonment ExposurE Questionnaire).

Authors: Pilotto S Gencarelli J Bova S et al.

Source: Multiple sclerosis journal - experimental, translational and clinical [Mult Scler J Exp Transl Clin] 2021 Dec 01; Vol. 7 (4), pp. 20552173211059048. Date of Electronic Publication: 2021 Dec 01 (Print Publication: 2021).

Publication Type: Journal Article

Journal Info: Publisher: Sage Publications Ltd Country of Publication: United States NLM ID: 101668877 Publication Model: eCollection Cited Medium: Print ISSN: 2055-2173 (Print) Linking ISSN: 20552173 NLM ISO Abbreviation: Mult Scler J Exp Transl Clin Subsets: PubMed not MEDLINE

Cannabidiol Use in Developmental and Epileptic Encephalopathies: A Syndrome- and Age-Stratified Systematic Review and Meta-analysis.

Authors: de Oliveira HM Oliveira Fonseca PE Trejo Elías JE et al.

Source: CNS drugs [CNS Drugs] 2026 Jul; Vol. 40 (7), pp. 973-995. Date of Electronic Publication: 2026 May 25.

Publication Type: Journal Article; Systematic Review; Meta-Analysis

Journal Info: Publisher: Adis, Springer International Country of Publication: New Zealand NLM ID: 9431220 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1179-1934 (Electronic) Linking ISSN: 11727047 NLM ISO Abbreviation: CNS Drugs Subsets: MEDLINE

Therapeutic Approaches to Tuberous Sclerosis Complex: From Available Therapies to Promising Drug Targets.

Authors: Conte, Elena Boccanegra, Brigida Dinoi, Giorgia et al.

Source: Biomolecules (2218-273X). Sep2024, Vol. 14 Issue 9, p1190. 14p.

Digenic inheritance of mutations in SPG7 and AFG3L2 causes motor neuron and cerebellar disorders.

Authors: Estiar MA Yu E Varghaei P et al.

Corporate Authors: Estiar MA Yu E Varghaei P et al.

Source: BMC medicine [BMC Med] 2026 Mar 24; Vol. 24 (1). Date of Electronic Publication: 2026 Mar 24.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101190723 Publication Model: Electronic Cited Medium: Internet ISSN: 1741-7015 (Electronic) Linking ISSN: 17417015 NLM ISO Abbreviation: BMC Med Subsets: MEDLINE

A novel variant in BCL11B in an individual with neurodevelopmental delay: A case report.

Authors: Yu, Yonglin Jia, Xiaoyi Yin, Hongwei et al.

Source: Molecular Genetics & Genomic Medicine. Apr2023, Vol. 11 Issue 4, p1-7. 7p.

EEG Features in Autism Spectrum Disorder: A Retrospective Analysis in a Cohort of Preschool Children.

Authors: Santarone, Marta Elena Zambrano, Stefania Zanotta, Nicoletta et al.

Source: Brain Sciences (2076-3425). Feb2023, Vol. 13 Issue 2, p345. 12p.

Therapy-resistant cluster headache in childhood: Case report and literature review.

Authors: Antonaci, F Alfei, E Piazza, F et al.

Source: Cephalalgia. Feb2010, Vol. 30 Issue 2, p233-238. 6p. 2 Charts, 2 Graphs.