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Novel SLC18A2 Variant in Infantile Dystonia-Parkinsonism Type 2.

Autor: Kaasalainen, Sakari¹ (AUTHOR), Arikka, Harri² (AUTHOR), Martikainen, Mika H.^1,3,4,5 (AUTHOR), Kaasinen, Valtteri^1,3 (AUTHOR)

Publikováno v: Case Reports in Neurological Medicine. 4/30/2024, Vol. 2024, p1-4. 4p.

Effect of developmental stimulation on gross motor development in 1-3 year-old children with celiac disease

Autor: Rezaeian, A., Ghayebie, E., ali jafari, Toosi, M. B., Ashrafzadeh, F., Heidarabady, S.

Publikováno v: Scopus-Elsevier

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::103bc965c48e15aac6cf89ab8c8a3150
http://www.scopus.com/inward/record.url?eid=2-s2.0-84960951984&partnerID=MN8TOARS

Expanding the phenotype of UPF3B-related disorder: Case reports and literature review.

Autor: Romano F; Clinical Genomics and Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Haanpää MK; Department of Genomics and Clinical Genetics, Turku University Hospital, Turku, Finland., Pomianowski P; Center for Medical Genetics and Genomics, Christiana Care Health System, Newark, Delaware, USA., Peraino AR; Center for Medical Genetics and Genomics, Christiana Care Health System, Newark, Delaware, USA., Pollard JR; Epilepsy Center, Christiana Care Health System, Newark, Delaware, USA., Di Feo MF; Clinical Genomics and Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Department of Genomics and Clinical Genetics, Turku University Hospital, Turku, Finland.; Center for Medical Genetics and Genomics, Christiana Care Health System, Newark, Delaware, USA.; Epilepsy Center, Christiana Care Health System, Newark, Delaware, USA.; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Traverso M; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy., Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Derchi M; Cardiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Henzen E; Genomics Facility, Italian Institute of Technology (IIT), Genoa, Italy., Zara F; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy., Faravelli F; Clinical Genomics and Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Capra V; Clinical Genomics and Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Scala M; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jun; Vol. 194 (6), pp. e63534. Date of Electronic Publication: 2024 Feb 06.

Synaptic vesicle glycoprotein 2C enhances vesicular storage of dopamine and counters dopaminergic toxicity.

Autor: Bucher ML; Department of Environmental Health Sciences, Mailman School of Public Health, Columbia University, New York, New York, USA., Dunn AR; Department of Environmental Health, Rollins School of Public Health, Emory University, Atlanta, Georgia, USA.; The Jackson Laboratory, Bar Harbor, Maine, USA., Bradner JM; Department of Environmental Health Sciences, Mailman School of Public Health, Columbia University, New York, New York, USA.; Department of Environmental Health, Rollins School of Public Health, Emory University, Atlanta, Georgia, USA.; AbbVie CRC, Cambridge, Massachusetts, USA., Egerton KS; Department of Environmental Health, Rollins School of Public Health, Emory University, Atlanta, Georgia, USA.; School of Education and Health Sciences, North Central College, Naperville, Illinois, USA., Burkett JP; Department of Environmental Health, Rollins School of Public Health, Emory University, Atlanta, Georgia, USA.; Department of Neurosciences, University of Toledo College of Medicine, Toledo, Ohio, USA., Johnson MA; Department of Environmental Health, Rollins School of Public Health, Emory University, Atlanta, Georgia, USA.; College of Arts and Sciences, Oberlin College, Oberlin, Ohio, USA., Miller GW; Department of Environmental Health Sciences, Mailman School of Public Health, Columbia University, New York, New York, USA.; Department of Environmental Health, Rollins School of Public Health, Emory University, Atlanta, Georgia, USA.; Department of Molecular Pharmacology and Therapeutics, Vagelos College of Physicians and Surgeons, Columbia University, New York, New York, USA.

Publikováno v: The European journal of neuroscience [Eur J Neurosci] 2024 May; Vol. 59 (10), pp. 2483-2501. Date of Electronic Publication: 2024 Mar 26.