المؤلفون: Elizabeth R Kellom, Barry Wolf, Gregory M Rice, Kimberly E Stepien

المصدر: Journal of Neuro-Ophthalmology, March 2021, Volume 41, Issue 1

مصطلحات موضوعية: Biotin / therapeutic use, Biotinidase / blood, Biotinidase Deficiency / diagnosis, Biotinidase Deficiency / drug therapy, Biotinidase Deficiency / genetics, Humans, Male, Middle Aged, Mutation / genetics, Optic Atrophy / diagnosis, Optic Atrophy / drug therapy, Optic Atrophy / physiopathology, Vision Disorders / diagnosis, Vision Disorders / drug therapy, Vision Disorders / physiopathology, Visual Acuity / physiology, Visual Fields / physiology, Vitamin B Complex / therapeutic use, Whole Exome Sequencing

Relation: https://collections.lib.utah.edu/ark:/87278/s64th7jj

الاتاحة: https://collections.lib.utah.edu/ark:/87278/s64th7jj

المؤلفون: Minnerop, Martina, Kurzwelly, Delia, Pyle, Angela, Thiele, Holger, Altmüller, Janine, Timmann, Dagmar, Karaca, Ilker, Lennarz, Martina, Baets, Jonathan, Hengel, Holger, Synofzik, Matthis, Atasu, Burcu, Wagner, Holger, Feely, Shawna, Kennerson, Marina, Stendel, Claudia, Lindig, Tobias, Gonzalez, Michael A, Stirnberg, Rüdiger, Sturm, Marc, Röske, Sandra, Jung, Johanna, Bauer, Peter, Soehn, Anne S, Lohmann, Ebba, Herms, Stefan, Heilmann-Heimbach, Stefanie, Nicholson, Garth, Mahanjah, Muhammad, Sharkia, Rajech, Carloni, Paolo, Brüstle, Oliver, Klopstock, Thomas, Mathews, Katherine D, Reichbauer, Jennifer, Shy, Michael E, de Jonghe, Peter, Chinnery, Patrick F, Horvath, Rita, Kohlhase, Jürgen, Schmitt, Ina, Wolf, Michael, Greschus, Susanne, Amunts, Katrin, Maier, Wolfgang, Tao, Feifei, Schöls, Ludger, Nürnberg, Peter, Zuchner, Stephan, Klockgether, Thomas, Ramirez, Alfredo, Schüle, Rebecca, Rattay, Tim W, Peitz, Michael, Rehbach, Kristina, Giorgetti, Alejandro

المصدر: Brain 140(6), 1561-1578 (2017). doi:10.1093/brain/awx095

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Aged, Cell Culture Techniques, Exons: genetics, Female, Genetic Association Studies, Humans, Induced Pluripotent Stem Cells, Intellectual Disability: diagnostic imaging, Intellectual Disability: genetics, Intellectual Disability: physiopathology, Introns: genetics, Male, Middle Aged, Muscle Spasticity: diagnostic imaging, Muscle Spasticity: genetics, Muscle Spasticity: physiopathology, Mutation, Optic Atrophy: diagnostic imaging, Optic Atrophy: genetics, Optic Atrophy: physiopathology, Pedigree, Phenotype, RNA Polymerase III: genetics, Spastic Paraplegia, Hereditary: diagnostic imaging, Hereditary: genetics, Hereditary: physiopathology, Spinocerebellar Ataxias: diagnostic imaging, Spinocerebellar Ataxias: genetics

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/1460-2156; info:eu-repo/semantics/altIdentifier/pmid/pmid:28459997; info:eu-repo/semantics/altIdentifier/issn/0006-8950; https://pub.dzne.de/record/139303; https://pub.dzne.de/search?p=id:%22DZNE-2020-05625%22

الاتاحة: https://pub.dzne.de/record/139303
https://pub.dzne.de/search?p=id:%22DZNE-2020-05625%22

المؤلفون: Bettencourt, Conceição, de Yébenes, Justo García, Sobrido, María-Jesús, Bevova, Marianna R, Jain, Shushant, Bugiani, Marianna, Heutink, Peter, Rizzu, Patrizia, López-Sendón, José Luis, Shomroni, Orr, Zhang, Xingqian, Qian, Shu-Bing, Bakker, Ingrid M C, Heetveld, Sasja, Ros, Raquel, Quintáns, Beatriz

المصدر: The Cerebellum 14(3), 378-381 (2015). doi:10.1007/s12311-014-0643-7

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Adult, Diagnosis, Differential, Family, Female, Heterozygote, Humans, Intellectual Disability: diagnosis, Intellectual Disability: genetics, Intellectual Disability: physiopathology, Male, Muscle Spasticity: diagnosis, Muscle Spasticity: genetics, Muscle Spasticity: physiopathology, Mutation, Optic Atrophy: diagnosis, Optic Atrophy: genetics, Optic Atrophy: physiopathology, Pedigree, Spinocerebellar Ataxias: diagnosis, Spinocerebellar Ataxias: genetics, Spinocerebellar Ataxias: physiopathology, Ubiquitin-Protein Ligases: genetics, STUB1 protein, human, Ubiquitin-Protein Ligases

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/1473-4222; info:eu-repo/semantics/altIdentifier/issn/1473-4230; info:eu-repo/semantics/altIdentifier/pmid/pmid:25592071; https://pub.dzne.de/record/137937; https://pub.dzne.de/search?p=id:%22DZNE-2020-04259%22

الاتاحة: https://pub.dzne.de/record/137937
https://pub.dzne.de/search?p=id:%22DZNE-2020-04259%22

المؤلفون: Lengyel, D., Klainguti, G., Mojon, D.S.

المصدر: Klinische Monatsblätter für Augenheilkunde, vol. 221, no. 5, pp. 386-389

مصطلحات موضوعية: Amblyopia/complications, Amblyopia/therapy, Child, Cicatrix/complications, Cicatrix/physiopathology, Coloboma/complications, Coloboma/physiopathology, Combined Modality Therapy, Comorbidity, Eye Diseases/complications, Eye Diseases/physiopathology, Eye Neoplasms/therapy, Female, Humans, Macula Lutea/physiopathology, Male, Optic Atrophy/complications, Optic Atrophy/physiopathology, Optic Nerve/abnormalities, Postoperative Complications/diagnosis, Postoperative Complications/physiopathology, Retinoblastoma/therapy

Relation: info:eu-repo/semantics/altIdentifier/pmid/15162287; info:eu-repo/semantics/altIdentifier/pissn/0023-2165; https://serval.unil.ch/notice/serval:BIB_33327

الاتاحة: https://serval.unil.ch/notice/serval:BIB_33327
https://doi.org/10.1055/s-2004-812883