-
1
المؤلفون: James A. Wohlschlegel, Jill A. Rosenfeld, Isabelle Coppens, Janet Markle, Marsha Pratt, Nawal Makhseed, Xianghui Chen, Thomas A. Burrow, Yu Zhang, Timothy S. Wang, Santosh R. Mordekar, Noelle R. Danylchuk, Michael E. Meadow, Kyle Metz, Daniel Crooks, Satish Agadi, Katrina Peariso, Gerard T. Berry, Michael J. Parker, Hee Jong Kim, Esther Leshinsky-Silver, Dianalee McKnight, Christine Stanley, Tobias Loddenkemper, Adam L. Hartman, Isabelle Prehl, Gustavo Maegawa, J. Marie Hardwick, Adolfo Garnica, Abdel Aouacheria, Min Tsui Ong, Parul Jayakar, Weimin Bi, Heather M. Lamb, Hatha Gbedawo, Michael Alber, Bart E. Wagner, Thomas C. Markello, Yaping Yang, Glenn Anderson, Xinchen Teng, Edda Haberlandt, Pankaj B. Agrawal
المساهمون: Institut des Sciences de l'Evolution de Montpellier (UMR ISEM), Centre de Coopération Internationale en Recherche Agronomique pour le Développement (Cirad)-École Pratique des Hautes Études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université de Montpellier (UM)-Institut de recherche pour le développement [IRD] : UR226-Centre National de la Recherche Scientifique (CNRS), R01 NS037402/NH/NIH HHS/United StatesR01 NS083373/NH/NIH HHS/United StatesT32 AI007417/AI/NIAID NIH HHS/United StatesCURE/CURE, Citizens United for Research in Epilepsy/United StatesR01 NS037402/NS/NINDS NIH HHS/United StatesR21 NS096677/NS/NINDS NIH HHS/United StatesK08 NS070931/NS/NINDS NIH HHS/United StatesK08 NS070931/NH/NIH HHS/United StatesR01 GM077875/GM/NIGMS NIH HHS/United StatesR01 GM089778/GM/NIGMS NIH HHS/United StatesR01 GM089778/NH/NIH HHS/United StatesR01 NS083373/NS/NINDS NIH HHS/United States, Centre de Coopération Internationale en Recherche Agronomique pour le Développement (Cirad)-École pratique des hautes études (EPHE)
المصدر: Annals of Neurology
Annals of Neurology, 2018, 84 (5), pp.766-780. ⟨10.1002/ana.25351⟩
Annals of Neurology, Wiley, 2018, 84 (5), pp.766-780. ⟨10.1002/ana.25351⟩مصطلحات موضوعية: Male, 0301 basic medicine, Potassium Channels, Movement disorders, MESH: Lysosomes/pathology, KCTD7, [SDV.BC.BC]Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC], MESH: Potassium Channels/deficiency, MESH: Lysosomes/genetics, MESH: Neurodegenerative Diseases/pathology, Age of Onset, Genetics, Neurodegenerative Diseases, MESH: Infant, Pedigree, 3. Good health, medicine.anatomical_structure, Neurology, Child, Preschool, Female, MESH: Autophagy/genetics, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], medicine.symptom, Saccharomyces cerevisiae Proteins, MESH: Mutation, Protein family, MESH: Pedigree, MESH: Age of Onset, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, Progressive myoclonus epilepsy, Biology, Article, Lipofuscin, 03 medical and health sciences, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Lysosome, Autophagy, medicine, Humans, MESH: Neurodegenerative Diseases/genetics, [SDV.BBM.BC]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Biochemistry [q-bio.BM], MESH: Potassium Channels/genetics, [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, MESH: Child, Preschool, Infant, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, medicine.disease, MESH: Male, MESH: Saccharomyces cerevisiae Proteins/genetics, 030104 developmental biology, Mutation, Neuronal ceroid lipofuscinosis, Neurology (clinical), Age of onset, Lysosomes, MESH: Female
-
2
المؤلفون: Birgit Zirn, Wolfram Heinritz, Keri Ramsey, Milka Pringsheim, Angelika Rieß, Dörthe Malzahn, Marc Kaulisch, Hans Martin Büttel, Katherine L. Helbig, Johannes R. Lemke, Luis Rohena, Martina Baethmann, G. Christoph Korenke, Frank Martin Zech, Marion Heruth, Isabelle Prehl, Konstanze Hoertnagel, Kim Sarah Plümacher, Knut Brockmann, Carolina Courage, Gerhard Kluger, Stephanie Karch, Karen Höft, Diana Mitter, Barbara Zoll, Julie S. Cohen, Angelika Eger, Rami Abou Jamra, Steffi Patzer, Theresa A. Grebe, Simone Schröder, Ali Fatemi, Dagmar Huhle, Richard E. Lutz, Tina Rating, Elizabeth Conover, Mareike Schimmel, Thomas Bast, Rita Warthemann, Rachel Westman, Natalie Hauser
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 20(1)
مصطلحات موضوعية: 0301 basic medicine, Male, Genotype, Genetic counseling, Protein domain, DNA Mutational Analysis, Nerve Tissue Proteins, Biology, Polymorphism, Single Nucleotide, Frameshift mutation, 03 medical and health sciences, 0302 clinical medicine, Forkhead Transcription Factors, Genetic variation, Rett Syndrome, Missense mutation, Humans, Child, Genetics (clinical), Genetic Association Studies, Genetics, Genetic Variation, Magnetic Resonance Imaging, 3. Good health, FOXG1, 030104 developmental biology, Phenotype, Child, Preschool, Female, 030217 neurology & neurosurgery