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: Anne Christians, Mike P. Wattjes, Susanne Petri, Ruthild G. Weber, Anastasia Sarikidi, Alma Osmanovic, Alisa Förster, Peter Raab, Julia Weder, Matthias Preller, Maylin Widjaja, Inken Lange, Bernd Auber

المصدر: Journal of Neurology

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Pathology, Neurology, Hereditary spastic paraplegia, medicine.disease_cause, SPG7, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Motor neuron disease, Amyotrophic lateral sclerosis, Exome sequencing, Mutation, Original Communication, Paraplegin, Spastic Paraplegia, Hereditary, business.industry, Amyotrophic Lateral Sclerosis, Metalloendopeptidases, medicine.disease, 030104 developmental biology, Whole-exome sequencing, ATPases Associated with Diverse Cellular Activities, Cerebellar atrophy, Neurology (clinical), business, 030217 neurology & neurosurgery, Frontotemporal dementia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::934bc28439e280c1a5f5ad4f8830a45b
https://doi.org/10.1007/s00415-020-09861-w

المؤلفون: Alma Osmanovic, Alisa Förster, Maylin Widjaja, Bernd Auber, Anibh M. Das, Anne Christians, Frank Brand, Susanne Petri, Ruthild G. Weber

المصدر: Journal of neurology. 269(9)

مصطلحات موضوعية: Neurology, Amyotrophic Lateral Sclerosis, Small Ubiquitin-Related Modifier Proteins, Codon, Initiator, Humans, Proteins, Exome, Neurology (clinical), Stress Granules

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ced91b883332860311a864014956df8
https://pubmed.ncbi.nlm.nih.gov/35503374

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