المؤلفون: Fatima M. Bostanova, Polina G. Tsygankova, Elena A. Larshina, Ilya O. Nagornov, Yulia V. Evseeva, Irina L. Krutikhina, Marina E. Dzhentemirova, Marina N. Kashlakova, Marina S. Petukhova, Inna V. Sharkova, Ekaterina Y. Zakharova

المصدر: Genes, Vol 15, Iss 5, p 615 (2024)

مصطلحات موضوعية: leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL), the DARS2 gene, white matter disorder, targeted gene sequencing, next-generation sequencing (NGS), Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/15/5/615Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/791ab53ca76942cca28e2e429ec99479Test

المؤلفون: Bostanova, Fatima M, Tsygankova, Polina G, Larshina, Elena A, Nagornov, Ilya O, Evseeva, Yulia V, Krutikhina, Irina L, Dzhentemirova, Marina E, Kashlakova, Marina N, Petukhova, Marina S, Sharkova, Inna V, Zakharova, Ekaterina Y

المصدر: Genes (Basel) ; ISSN:2073-4425 ; Volume:15 ; Issue:5

مصطلحات موضوعية: leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL), next-generation sequencing (NGS), targeted gene sequencing, the DARS2 gene, white matter disorder

العلاقة: https://doi.org/10.3390/genes15050615Test; https://pubmed.ncbi.nlm.nih.gov/38790244Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11121371Test/

الإتاحة: https://doi.org/10.3390/genes15050615Test
https://pubmed.ncbi.nlm.nih.gov/38790244Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11121371Test/

المؤلفون: Toldo, Irene, Nosadini, Margherita, BOSCARDIN, CHIARA, Talenti, Giacomo, Manara, Renzo, Lamantea, Eleonora, Legati, Andrea, GHEZZI, DANIELE, Perilongo, Giorgio, Sartori, Stefano

المساهمون: Toldo, Irene, Nosadini, Margherita, Boscardin, Chiara, Talenti, Giacomo, Manara, Renzo, Lamantea, Eleonora, Legati, Andrea, Ghezzi, Daniele, Perilongo, Giorgio, Sartori, Stefano

مصطلحات موضوعية: DARS2 gene, Early-onset LBSL, ISCA2 gene, Leukoencephalopathy with brainstem and spinal cord involvement and high brain lactate, Mitochondrial disorder, Biochemistry, Neurology (clinical), Cellular and Molecular Neuroscience

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29359243; info:eu-repo/semantics/altIdentifier/wos/WOS:000432530200019; firstpage:1; lastpage:8; numberofpages:8; journal:METABOLIC BRAIN DISEASE; http://hdl.handle.net/11577/3257999Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85040762201; www.wkap.nl/journalhome.htm/0885-7490

الإتاحة: https://doi.org/10.1007/s11011-017-0181-3Test
http://hdl.handle.net/11577/3257999Test

المؤلفون: I. Toldo, M. Nosadini, C. Boscardin, G. Talenti, R. Manara, E. Lamantea, A. Legati, D. Ghezzi, G. Perilongo, S. Sartori

المساهمون: I. Toldo, M. Nosadini, C. Boscardin, G. Talenti, R. Manara, E. Lamantea, A. Legati, D. Ghezzi, G. Perilongo, S. Sartori

مصطلحات موضوعية: DARS2 gene, Early-onset LBSL, ISCA2 gene, Leukoencephalopathy with brainstem and spinal cord involvement and high brain lactate, Mitochondrial disorder, Biochemistry, Neurology (clinical), Cellular and Molecular Neuroscience, Settore MED/03 - Genetica Medica, Settore MED/26 - Neurologia

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29359243; info:eu-repo/semantics/altIdentifier/wos/WOS:000432530200019; journal:METABOLIC BRAIN DISEASE; http://hdl.handle.net/2434/552123Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85040762201

الإتاحة: https://doi.org/10.1007/s11011-017-0181-3Test
http://hdl.handle.net/2434/552123Test

المؤلفون: Eleonora Lamantea, Andrea Legati, Chiara Boscardin, Daniele Ghezzi, Giorgio Perilongo, Giacomo Talenti, Irene Toldo, Margherita Nosadini, Stefano Sartori, Renzo Manara

المصدر: Metabolic brain disease. 33(3)

مصطلحات موضوعية: 0301 basic medicine, Iron-Sulfur Proteins, Pathology, medicine.medical_specialty, Gene mutation, Corpus callosum, Biochemistry, Leukoencephalopathy, 03 medical and health sciences, Cellular and Molecular Neuroscience, ISCA2 gene, 0302 clinical medicine, Leukoencephalopathies, medicine, Missense mutation, Humans, Lactic Acid, Leukoencephalopathy with brainstem and spinal cord involvement and high brain lactate, DARS2 gene, Early-onset LBSL, Mitochondrial disorder, Neurology (clinical), business.industry, Brain, Infant, medicine.disease, Spinal cord, Functional magnetic resonance spectroscopy of the brain, Hypotonia, Mitochondria, 030104 developmental biology, medicine.anatomical_structure, Mitochondrial respiratory chain, Spinal Cord, Mutation, Female, medicine.symptom, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::088ededebe630388d2b75e126fdbe363Test
https://pubmed.ncbi.nlm.nih.gov/29789987Test