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1دورية أكاديمية
المؤلفون: Yao Yuan, Lingqi Yu, Xudong Zhuang, Dongjing Wen, Jin He, Jingmei Hong, Jiayu Xie, Shengan Ling, Xiaoyue Du, Wenfeng Chen, Xinrui Wang
المصدر: Neural Regeneration Research, Vol 20, Iss 1, Pp 265-276 (2023)
مصطلحات موضوعية: atp1a1, atpα, bang-sensitive paralysis, charcot-marie-tooth disease type 2, crispr/cas9, homology-directed repair, na+/k+-atpase, point mutation, seizures, sodium pump, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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2
المؤلفون: Osmanovic, Alma, Gogol, Isabel, Martens, Helge, Widjaja, Maylin, Müller, Kathrin, Schreiber-Katz, Olivia, Feuerhake, Friedrich, Langhans, Claus-Dieter, Schmidt, Gunnar, Andersen, Peter M., 1962, Ludolph, Albert C., Weishaupt, Jochen H., Brand, Frank, Petri, Susanne, Weber, Ruthild G.
المصدر: Genes. 13(1)
مصطلحات موضوعية: 2-aminoadipic and 2-oxoadipic aciduria, Amyotrophic lateral sclerosis, Charcot-Marie-Tooth disease type 2, DHTKD1, Lower motor neuron, Neurodegeneration, Whole-exome sequencing
وصف الملف: electronic
URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-191091
https://doi.org/10.3390/genes13010084
https://umu.diva-portal.org/smash/get/diva2:1627076/FULLTEXT01.pdf -
3دورية أكاديمية
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4دورية أكاديمية
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5دورية أكاديمية
المؤلفون: Barbullushi, Kordelia, Abati, Elena, Rizzo, Federica, Bresolin, NereoAff1, Aff2, Comi, Giacomo P.Aff1, Aff2, Corti, StefaniaAff1, Aff2
المصدر: Molecular Neurobiology. 56(9):6460-6471
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6دورية أكاديمية
المؤلفون: Si On Lim, Na Young Jung, Ah Jin Lee, Hee Ji Choi, Hye Mi Kwon, Wonseok Son, Soo Hyun Nam, Byung-Ok Choi, Ki Wha Chung
المصدر: Genes, Vol 13, Iss 3, p 462 (2022)
مصطلحات موضوعية: Charcot-Marie-Tooth disease type 2, distal hereditary motor neuropathies, HSPB1, HSPB8, HSPB3, Korean, Genetics, QH426-470
وصف الملف: electronic resource
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7دورية أكاديمية
المؤلفون: Alma Osmanovic, Isabel Gogol, Helge Martens, Maylin Widjaja, Kathrin Müller, Olivia Schreiber-Katz, Friedrich Feuerhake, Claus-Dieter Langhans, Gunnar Schmidt, Peter M. Andersen, Albert C. Ludolph, Jochen H. Weishaupt, Frank Brand, Susanne Petri, Ruthild G. Weber
المصدر: Genes, Vol 13, Iss 1, p 84 (2021)
مصطلحات موضوعية: amyotrophic lateral sclerosis, DHTKD1, neurodegeneration, Charcot-Marie-Tooth disease type 2, 2-aminoadipic and 2-oxoadipic aciduria, lower motor neuron, Genetics, QH426-470
وصف الملف: electronic resource
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8دورية أكاديمية
المؤلفون: Antonio Bustos, Pablo Selvi Sabater, María Benlloch, Eraci Drehmer, María Mar López-Rodríguez, Felix Platero, Jose Luis Platero, Jesús Escribá-Alepuz, Jose Enrique de la Rubia Ortí
المصدر: Medicina, Vol 57, Iss 2, p 104 (2021)
مصطلحات موضوعية: Charcot-Marie-Tooth disease type 2, epigallocatechin gallate, IL-6, motor activity, paraoxonase 1, Medicine (General), R5-920
وصف الملف: electronic resource
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9
المؤلفون: Alma Osmanovic, Isabel Gogol, Helge Martens, Maylin Widjaja, Kathrin Müller, Olivia Schreiber-Katz, Friedrich Feuerhake, Claus-Dieter Langhans, Gunnar Schmidt, Peter M. Andersen, Albert C. Ludolph, Jochen H. Weishaupt, Frank Brand, Susanne Petri, Ruthild G. Weber
المصدر: Genes, Vol 13, Iss 84, p 84 (2022)
Genes; Volume 13; Issue 1; Pages: 84مصطلحات موضوعية: amyotrophic lateral sclerosis, Neurologi, Medizin, neurodegeneration, Neurosciences, QH426-470, 2-aminoadipic and 2-oxoadipic aciduria, Amyotrophic lateral sclerosis, DHTKD1, Neurology, Whole-exome sequencing, Genetics, Charcot-Marie-Tooth disease type 2, lower motor neuron, whole-exome sequencing, Lower motor neuron, Neurodegeneration, Genetics (clinical), Neurovetenskaper
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0275e399a7219cd699419ec82dfd0b43
http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-191091 -
10
المؤلفون: Alma, Osmanovic, Isabel, Gogol, Helge, Martens, Maylin, Widjaja, Kathrin, Müller, Olivia, Schreiber-Katz, Friedrich, Feuerhake, Claus-Dieter, Langhans, Gunnar, Schmidt, Peter M, Andersen, Albert C, Ludolph, Jochen H, Weishaupt, Frank, Brand, Susanne, Petri, Ruthild G, Weber
المصدر: Genes
مصطلحات موضوعية: Adult, Aged, 80 and over, Male, Heterozygote, amyotrophic lateral sclerosis, neurodegeneration, Pilot Projects, Middle Aged, Prognosis, 2-aminoadipic and 2-oxoadipic aciduria, Article, DHTKD1, Europe, Phenotype, Case-Control Studies, Mutation, Humans, Female, Ketoglutarate Dehydrogenase Complex, whole-exome sequencing, lower motor neuron, Charcot-Marie-Tooth disease type 2, Aged, Follow-Up Studies