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1دورية أكاديمية
المؤلفون: Eva Janzen, Lisa Wolff, Natalia Mendoza-Ferreira, Kristina Hupperich, Andrea Delle Vedove, Seyyedmohsen Hosseinibarkooie, Min Jeong Kye, Brunhilde Wirth
المصدر: Frontiers in Neuroscience, Vol 13 (2019)
مصطلحات موضوعية: plastin 3 (PLS3), calcineurin like EF-hand protein 1 (CHP1), Na+/H+ exchanger (NHE1), ataxia, neurodegeneration, modifier, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
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المؤلفون: Andrea Delle Vedove, Janani Natarajan, Ginevra Zanni, Matthias Eckenweiler, Anixa Muiños-Bühl, Markus Storbeck, Jordina Guillén Boixet, Sabina Barresi, Simone Pizzi, Irmgard Hölker, Friederike Körber, Titus M. Franzmann, Enrico S. Bertini, Janbernd Kirschner, Simon Alberti, Marco Tartaglia, Brunhilde Wirth
المصدر: Cellular and Molecular Life Sciences
مصطلحات موضوعية: Pharmacology, Cellular and Molecular Neuroscience, Molecular Medicine, Cell Biology, Molecular Biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b67874dab10c41ab0526b164957db96f
https://doi.org/10.21203/rs.3.rs-1838998/v1 -
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المؤلفون: Andrea, Delle Vedove, Janani, Natarajan, Ginevra, Zanni, Matthias, Eckenweiler, Anixa, Muiños-Bühl, Markus, Storbeck, Jordina, Guillén Boixet, Sabina, Barresi, Simone, Pizzi, Irmgard, Hölker, Friederike, Körber, Titus M, Franzmann, Enrico S, Bertini, Janbernd, Kirschner, Simon, Alberti, Marco, Tartaglia, Brunhilde, Wirth
المصدر: Cellular and molecular life sciences : CMLS. 79(10)
مصطلحات موضوعية: Protein Aggregates, Mutation, Humans, Ataxia, Cell Cycle Proteins, RNA, Messenger, Child
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المؤلفون: Peter Nürnberg, Tobias Eisenberger, Dirk Mürbe, Christian Decker, Nataliya Di Donato, Mohammad R. Toliat, Andrea Delle Vedove, Christine Neuhaus, Gudrun Nürnberg, Hanno J. Bolz
المصدر: Genetics in Medicine
مصطلحات موضوعية: Male, 0301 basic medicine, deafness, DFNB84A, Genetic Linkage, Nonsense mutation, nonsense mutation, Genome-wide association study, Deafness, autosomal-dominant hearing loss, Biology, medicine.disease_cause, 03 medical and health sciences, Exon, symbols.namesake, Genetic linkage, Exome Sequencing, medicine, Humans, Exome, Family, Amino Acid Sequence, Original Research Article, Allele, Hearing Loss, PTPRQ, Genetics (clinical), Exome sequencing, Genetics, Sanger sequencing, Mutation, Receptor-Like Protein Tyrosine Phosphatases, Class 3, Exons, Pedigree, 030104 developmental biology, Codon, Nonsense, symbols, Female, Genome-Wide Association Study
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المؤلفون: Vincenzo Salpietro, Matthew Pitt, Qiaohong Ye, Markus Storbeck, Brunhilde Wirth, Ken McElreavey, Weichun Lin, Sharon Aharoni, Sarah Wiethoff, Adnan Y. Manzur, Lina Basel-Vanagaite, Yun Liu, Monika Weisz Hubshman, Andreea Manole, Andrea Delle Vedove, Henry Houlden, Oscar D. Bello, Shyam S. Krishnakumar, James E. Rothman, Anand Saggar, Stephanie Efthymiou
المصدر: Annals of Neurology. 81:597-603
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Transgene, media_common.quotation_subject, Nonsense mutation, Nonsense, Consanguinity, Biology, Neuromuscular junction, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Exome, media_common, Genetics, VAMP1, Congenital myasthenic syndrome, medicine.disease, 3. Good health, 030104 developmental biology, Endocrinology, medicine.anatomical_structure, Neurology, Neurology (clinical), 030217 neurology & neurosurgery
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المؤلفون: Katharina Vezyroglou, Olafur Th Magnusson, Susanne Motameny, Janine Altmueller, Salem Alawbathani, Reza Maroofian, Bertold Schrank, Uluç Yiş, Irmgard Hölker, Raoul Heller, Janbernd Kirschner, Leyla Naghiyeva, Lea Schmitz-Steinkrüger, Mert Karakaya, Eike A. Strathmann, Brunhilde Wirth, Holger Thiele, Derya Okur, Peter Nürnberg, Markus Storbeck, Ayşe İpek Polat, Ehsan Ghayoor Karimiani, Gilbert Wunderlich, Haluk Topaloglu, Didem Ardicli, Andrea Delle Vedove, Reza Boostani
المصدر: Human mutation. 39(9)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Adolescent, SMN1, Biology, medicine.disease_cause, Bioinformatics, Muscular Atrophy, Spinal, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Atrophy, Exome Sequencing, Genetics, medicine, Humans, Point Mutation, Age of Onset, Pathology, Molecular, Child, Exome, Genetics (clinical), Sequence Deletion, Mutation, Whole Genome Sequencing, Homozygote, High-Throughput Nucleotide Sequencing, Infant, Spinal muscular atrophy, Exons, Neuromuscular Diseases, Middle Aged, medicine.disease, SMA, Spinal muscular atrophies, Survival of Motor Neuron 1 Protein, Hypotonia, 030104 developmental biology, Child, Preschool, Female, medicine.symptom, 030217 neurology & neurosurgery
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المؤلفون: Olafur T. Magnusson, Markus Storbeck, Andrea Delle Vedove, Brunhilde Wirth, Irmgard Hölker, Raoul Heller, Bart Loeys, Katta M. Girisha, Mary O’Driscoll, Malavika Hebbar, Sebahattin Cirak, Anju Shukla
المصدر: The American journal of human genetics
مصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, Pathology, Turkey, medicine.disease_cause, Mechanotransduction, Cellular, Ion Channels, 0302 clinical medicine, Ptosis, Missense mutation, Pakistan, Child, Connective Tissue Diseases, Genetics (clinical), Genetics, Arthrogryposis, Sanger sequencing, Mutation, Ophthalmoplegia, Homozygote, Pedigree, Muscular Atrophy, Scoliosis, Child, Preschool, symbols, Female, medicine.symptom, Adult, medicine.medical_specialty, Contracture, Adolescent, Mutation, Missense, India, Libya, Biology, Blepharophimosis, Polymorphism, Single Nucleotide, Perinatal respiratory distress, Frameshift mutation, 03 medical and health sciences, symbols.namesake, Young Adult, Atrophy, Report, medicine, Humans, Abnormalities, Multiple, Alleles, Muscle contracture, Respiratory Distress Syndrome, Newborn, Proprioception, business.industry, Correction, medicine.disease, Human genetics, Arachnodactyly, 030104 developmental biology, Human medicine, business, 030217 neurology & neurosurgery, Genome-Wide Association Study
وصف الملف: pdf
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