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; Volume 13; Issue 1; Pages: 84

مصطلحات موضوعية: amyotrophic lateral sclerosis, DHTKD1, neurodegeneration, Charcot-Marie-Tooth disease type 2, 2-aminoadipic and 2-oxoadipic aciduria, lower motor neuron, whole-exome sequencing

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/genes13010084

الاتاحة: https://doi.org/10.3390/genes13010084

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: 84

مصطلحات 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

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::a03c0809216a98835e6e3e661f2531f7
https://pubmed.ncbi.nlm.nih.gov/35052424