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1دورية أكاديمية
المؤلفون: Paulo de Lima Serrano, Thaiane de Paulo Varollo Rodrigues, Leslyê Donato Pinto, Indiara Correia Pereira, Igor Braga Farias, Renan Brandão Rambaldi Cavalheiro, Patrícia Marques Mendes, Kaliny Oliveira Peixoto, João Paulo Barile, Daniel Delgado Seneor, Eduardo Gleitzmann Correa Silva, Acary Souza Bulle Oliveira, Wladimir Bocca Vieira de Rezende Pinto, Paulo Sgobbi
المصدر: Current Issues in Molecular Biology, Vol 46, Iss 5, Pp 4309-4323 (2024)
مصطلحات موضوعية: leukoencephalopathy, leukodystrophy, biomarker, chitotriosidase, CSF1R, adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: https://www.mdpi.com/1467-3045/46/5/262Test; https://doaj.org/toc/1467-3037Test; https://doaj.org/toc/1467-3045Test
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2دورية أكاديمية
المؤلفون: Paulo Sgobbi, Igor Braga Farias, Paulo de Lima Serrano, Bruno de Mattos Lombardi Badia, Hélvia Bertoldo de Oliveira, Alana Strucker Barbosa, Camila Alves Pereira, Vanessa de Freitas Moreira, Marco Antônio Troccoli Chieia, Adriel Rêgo Barbosa, Pedro Henrique Almeida Fraiman, Vinícius Lopes Braga, Roberta Ismael Lacerda Machado, Sophia Luiz Calegaretti, Isabela Danziato Fernandes, Roberta Correa Ribeiro, Marco Antonio Orsini Neves, Wladimir Bocca Vieira de Rezende Pinto, Acary Souza Bulle Oliveira
المصدر: Muscles, Vol 3, Iss 1, Pp 4-15 (2024)
مصطلحات موضوعية: inherited metabolic disorders, spinocerebellar ataxia, spastic ataxia, optic atrophy, mitochondrial disease, PNPT1, Physiology, QP1-981, Diseases of the musculoskeletal system, RC925-935
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Edmar Zanoteli, Alexandra Prufer de Queiróz Campos Araujo, Michele Michelin Becker, Clarisse Pereira Dias Drumond Fortes, Marcondes Cavalcante França, Marcela Camara Machado-Costa, Wilson Marques, Ciro Matsui Jr, Rodrigo Holanda Mendonça, Flávia Nardes, Acary Souza Bulle Oliveira, Andre Luis Santos Pessoa, Jonas Alex Morales Saute, Paulo Sgobbi, Hélio Van der Linden, Juliana Gurgel-Giannetti
المصدر: Arquivos de Neuro-Psiquiatria, Vol 82, Iss 01, Pp 001-018 (2024)
مصطلحات موضوعية: Spinal Muscular Atrophy, Survival of Motor Neuron 1 Protein, Oligonucleotides, Risdiplam, Genetic Therapy, Onasemnogene abeparvovec, Atrofia Muscular Espinhal, Proteína 1 de Sobrevivência do Neurônio Motor, Oligonucleotídeos, Terapia Genética, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Paulo Sgobbi, Paulo de Lima Serrano, Bruno de Mattos Lombardi Badia, Igor Braga Farias, Hélvia Bertoldo de Oliveira, Alana Strucker Barbosa, Camila Alves Pereira, Vanessa de Freitas Moreira, Ícaro França Navarro Pinto, Acary Souza Bulle Oliveira, Wladimir Bocca Vieira de Rezende Pinto
المصدر: Frontiers in Neurology, Vol 15 (2024)
مصطلحات موضوعية: porphyria, neurofilament, biomarker, acute hepatic porphyria, inherited metabolic disorders, inborn errors of metabolism, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2024.1384678/fullTest; https://doaj.org/toc/1664-2295Test
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5دورية أكاديمية
المؤلفون: Andrea DeBarber, Yaz Kisanuki, Paulo Nobrega, Ryan Himes, Suman Jayadev, John Bernat, Vikram Prakash, James Gibson, Austin Larson, Paulo Sgobbi, Edward Murphy, Brian Fedor, Cheryl Wong Po Foo, Rana Dutta, Michael Imperiale, Jolan Terner-Rosenthal, Will Garner, Pamela Vig, P. Barton Duell, Sarah Perez, Ritesh Ramdhani, Jonas Saute
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101039- (2024)
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774424001857Test; https://doaj.org/toc/2949-7744Test
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6دورية أكاديمية
المؤلفون: Matthew M. Gayed, Paulo Sgobbi, Wladimir Bocca Viera De Rezende Pinto, Priya S. Kishnani, Rebecca L. Koch
المصدر: Frontiers in Genetics, Vol 14 (2023)
مصطلحات موضوعية: adult polyglucosan body disease, glycogen storage disease type IV, whole exome sequencing, patient-reported outcome, polyglucosan body neuropathy, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2023.1282790/fullTest; https://doaj.org/toc/1664-8021Test
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المؤلفون: Matthew M. Gayed, Paulo Sgobbi, Wladimir Bocca Viera De Rezende Pinto, Priya S. Kishnani, Rebecca L. Koch
مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, adult polyglucosan body disease, glycogen storage disease type IV, whole exome sequencing, patient-reported outcome, polyglucosan body neuropathy
الإتاحة: https://doi.org/10.3389/fgene.2023.1282790.s001Test
https://figshare.com/articles/dataset/Table1_Case_report_Expanding_the_understanding_of_the_adult_polyglucosan_body_disease_continuum_novel_presentations_diagnostic_pitfalls_and_clinical_pearls_DOCX/24849510Test