المؤلفون: Qiushi Chen, Juliane S. Müller, Poh-Choo Pang, Steve H. Laval, Stuart M. Haslam, Hanns Lochmüller, Anne Dell

المصدر: Biomolecules, Vol 5, Iss 4, Pp 2758-2781 (2015)

مصطلحات موضوعية: congenital myasthenic syndromes, glutamine-fructose-6-phosphate transaminase 1, glycosylation, mass spectrometry, Microbiology, QR1-502

وصف الملف: electronic resource

Relation: http://www.mdpi.com/2218-273X/5/4/2758; https://doaj.org/toc/2218-273X

URL الوصول: https://doaj.org/article/628ff0b3b606464198b64be992f10571

المؤلفون: Juliane S Müller, Rita Horvath

المساهمون: Horvath, Rita [0000-0002-9841-170X], Apollo - University of Cambridge Repository

المصدر: Brain. 144:2234-2236

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Tooth disease, Charcot-Marie-Tooth Disease, Cell type specific, medicine, Humans, Neurology (clinical), Biology, Diffuse Idiopathic Skeletal Hyperostosis

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71f9103f4c6769a5814a2d30a6ea6c0d
https://doi.org/10.1093/brain/awab278

المؤلفون: Rita Horvath, Reza Maroofian, Juliane S Müller, Yavuz Oktay, Mahmut Aslan, Ashwati Nair, Uluç Yiş, Emily O'Heir, Elmasnur Yilmaz, Ana Töpf, Henry Houlden, Steven Laurie, Bilge Özgör, Sergi Beltran, Pinar Edem, K. Polavarapu, Fei Gao, Serdal Güngör, Nur Arslan, Andreas Roos, Hanns Lochmüller, Leslie Matalonga, Katherine Schon, Alysia Kern Lovgren, Angela Lochmüller, Patrick F. Chinnery, Nóra Zs Szabó, Denisa Hathazi, Ida Paramonov, Aliz Rieger, Ahmet Yaramis, Ece Sonmezler, Semra Hız Kurul, Ipek Kalafatcilar, Burcu Ekinci

المساهمون: Houlden, Henry [0000-0002-2866-7777], Chinnery, Patrick F [0000-0002-7065-6617], Horvath, Rita [0000-0002-9841-170X], Apollo - University of Cambridge Repository

المصدر: Brain

مصطلحات موضوعية: Consanguinitat, Population, Medizin, Prevalence, Consanguinity, rate of consanguinity, Compound heterozygosity, DNA sequencing, whole exome sequencing, neurogenetic disease burden, Exome Sequencing, Medicine, Humans, Exome, education, Gene, Exome sequencing, Genetics, consanguineous families, education.field_of_study, business.industry, Homozygote, Pedigree, Phenotype, Cohort, Mutation, Neurology (clinical), Neurogenètica, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a5e400847ded38fef658522e2ef5a88
https://avesis.deu.edu.tr/publication/details/de485db7-555e-4eea-9a2b-8423075ec9c4/oai

المؤلفون: Juliane S Müller, Adriana P. Rebelo, Fatima Rahman, Isabella Ceccherini, Shoji Tsuji, Pavel Seeman, Elodie Lacaze, Andreas R. Janecke, Sherifa A. Hamed, Elham Alehabib, Vincenzo Salpietro, Hossein Darvish, Sheng Chih Jin, Katheryn Grand, Gökhan Uyanik, Henry Houlden, Rolf Stucka, Ahmed Alfares, Francisca Millan, Andrea Pedroni, Hanna Küpper, Najwa Anwar, Andrea Catala Bordes, Michele Iacomino, Dieter Gläser, Tine Deconinck, Maja Di Rocco, Federico Zara, Jin Yun Helen Chen, Shazia Maqbool, Martin Kuchar, Kishin Koh, Tim M. Strom, Filippo M. Santorelli, Nicholas W. Wood, Stephanie Efthymiou, Marcello Scala, Selina Deschner, Jenny Carmichael, Cara M. Skraban, Gudrun Nürnberg, Maria Gabriela Otero, Michael C. Kruer, Hanan E. Shamseldin, Bart P.C. van de Warrenburg, Yasuhiro Suzuki, Haitian Nan, Somayeh Bakhtiari, Willem De Ridder, Roman Chrast, Ivana Ricca, Changlian Zhu, Rebecca Schüle, Jonathan Baets, Rossella Pasquariello, Peter De Jonghe, Fowzan S. Alkuraya, Nihal Olgaç Dündar, Majid Alfadhel, Yinghong Wang, Jamileh Rezazadeh Varaghchi, Tyler Mark Pierson, David Dredge, Peter Nürnberg, Marta Rusmini, Nourelhoda A Haridy, Yoshihisa Takiyama, Manuela Wiessner, Maryam Najafi, Saghar Ghasemi Firouzabadi, Matthis Synofzik, Frederic Tran Mau-Them, Christian Beetz, Konstantinos Ampatzis, James T Peterson, Emmanuelle Schmitt, Laetitia Lambert, Erik-Jan Kamsteeg, Kaya Bilguvar, Richard A. Lewis, Jonathan De Winter, Hwei-Jen Lee, Hiroyuki Ishiura, Jean-Jacques Médard, Luca Bartesaghi, Mary J H Willis, Anna Uhrova Meszarosova, Rita Horvath, Filipa Bouçanova, Carsten Bergmann, Wolfgang Hüttel, Meng-Yuan Ni, Mohammed Anter Abdelhameed, Tobias B. Haack, Jan Senderek, Özgür Duman, Alistair T. Pagnamenta, John M. Graham, Yiran Xu, Amy Goldstein, Ruben Portier, Michaela Auer-Grumbach, Ludger Schöls, Reza Maroofian, Stephan Züchner, Saeed Al Tala

المساهمون: Genomics England Research Consortium, PREPARE Network

المصدر: Brain
Brain 144(5), 1422-1434 (2021). doi:10.1093/brain/awab041
Brain, 144, 5, pp. 1422-1434
Brain, 144, 1422-1434

مصطلحات موضوعية: 0301 basic medicine, Male, Hereditary spastic paraplegia, Mitochondrial disease, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], 03 medical and health sciences, Mice, 0302 clinical medicine, genetics [Spastic Paraplegia, Hereditary], mitochondrial disorder, medicine, Missense mutation, Animals, Humans, HSP, autosomal recessive, hereditary spastic paraplegia, HPDL, genetics [Oxygenases], Spasticity, ddc:610, Spastic tetraplegia, Zebrafish, Homogentisate 1,2-dioxygenase, Genetics, Errata, business.industry, Spastic Paraplegia, Hereditary, medicine.disease, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Hallucinogen persisting perception disorder, Pedigree, Rats, 030104 developmental biology, Mutation, Oxygenases, Female, Neurology (clinical), Human medicine, medicine.symptom, business, Spastic quadriplegia, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::032194096789f9a56cdf70372f329787
https://doi.org/10.1093/brain/awab041

المؤلفون: Juliane S Müller, Veronika Boczonadi, Rita Horvath

المصدر: Mitochondrial Diseases ISBN: 9783030701468

مصطلحات موضوعية: High energy, medicine.anatomical_structure, Mitochondrial translation, business.industry, medicine, Skeletal muscle, Oxidative phosphorylation, business, Cell biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7d7d3ef8a01d62afb1d915c6b2d8ce4c
https://doi.org/10.1007/978-3-030-70147-5_4

المؤلفون: Michio Hirano, Mamta Giri, Ana Cotta, Hanns Lochmüller, Angela Pyle, Julia Filardi Paim, Matthew J. Jennings, Veronika Boczonadi, Jennifer Duff, Andreas Roos, Helen Griffin, Vamsi K. Mootha, Aurora Gomez-Duran, Adela Della Marina, Eric P Hoffmann, Joanna Poulton, Michael G. Hanna, Robert D S Pitceathly, Kristine Chapman, Juliane S Müller, Kairit Joost, Denisa Hathazi, Claudia Calabrese, Benjamin Munro, Sarah F Pearce, Salvatore DiMauro, Monica Machado Navarro, Michal Minczuk, Mar Tulinius, Wei Wei, Serenella Servidei, Michele Giunta, Christopher A. Powell, Johanna Uusimaa, Rita Horvath, Andre Mattman, Patrick F. Chinnery, Ulrike Schara

المساهمون: Powell, Christopher [0000-0001-7501-0586], Joost, Kairit [0000-0003-2544-3230], Minczuk, Michal [0000-0001-8242-1420], Chinnery, Patrick F [0000-0002-7065-6617], Horvath, Rita [0000-0002-9841-170X], Apollo - University of Cambridge Repository

المصدر: The EMBO Journal

مصطلحات موضوعية: Male, Proteomics, reversible infantile respiratory chain deficiency, Mitochondrial Diseases, Medizin, Gene Expression, medicine.disease_cause, igenic inheritance, digenic inheritance, Quadriceps Muscle, 0302 clinical medicine, Mitochondrial myopathy, Membrane & Intracellular Transport, 0303 health sciences, Mutation, tRNA Methyltransferases, General Neuroscience, Mitochondrial Myopathies, Articles, Digenic inheritance, Penetrance, 3. Good health, Mitochondria, Pedigree, homoplasmic tRNA mutation, Female, medicine.medical_specialty, Mitochondrial DNA, Adolescent, Mitochondrial disease, Biology, DNA, Mitochondrial, General Biochemistry, Genetics and Molecular Biology, Article, Cell Line, Mitochondrial Proteins, 03 medical and health sciences, Lipid oxidation, Internal medicine, medicine, Humans, Molecular Biology, 030304 developmental biology, General Immunology and Microbiology, mitochondrial myopathy, Infant, medicine.disease, Endocrinology, Metabolism, Mitochondrial biogenesis, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7702b627553ef1fc91f44444ca1ad45d
http://europepmc.org/articles/PMC7705457

المؤلفون: Benjamin Munro, Claudia Schneider, Romance A Zendah, Juliane S Müller, Rita Horvath, Helen Griffin, Graeme R. Wells, David T. Burns

المساهمون: Griffin, Helen [0000-0002-5288-3322], Zendah, Romance A [0000-0001-8184-3074], Munro, Benjamin [0000-0003-4506-7092], Schneider, Claudia [0000-0001-5597-2489], Horvath, Rita [0000-0002-9841-170X], Apollo - University of Cambridge Repository

المصدر: Life Science Alliance

مصطلحات موضوعية: Adult, Male, Exosome complex, Health, Toxicology and Mutagenesis, Mutant, Pontocerebellar hypoplasia, Ribosome biogenesis, Plant Science, Biology, Exosomes, Biochemistry, Genetics and Molecular Biology (miscellaneous), Exosome, Pathogenesis, 03 medical and health sciences, 0302 clinical medicine, Cerebellar Diseases, Cell Line, Tumor, medicine, Animals, Humans, Zebrafish, Research Articles, 030304 developmental biology, 0303 health sciences, Ecology, Exosome Multienzyme Ribonuclease Complex, Homozygote, RNA-Binding Proteins, Zebrafish Proteins, medicine.disease, biology.organism_classification, Cell biology, Apoptosis, Mutation, Female, Tumor Suppressor Protein p53, Ribosomes, 030217 neurology & neurosurgery, Research Article

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e690db510ea8ab7f7238fa28ac702ae

المؤلفون: Juliane S Müller, Benjamin Munro, Rita Horvath

المصدر: Human Molecular Genetics

مصطلحات موضوعية: Purine, Purine nucleotide salvage, Mitochondrial DNA, Mitochondrial Diseases, DNA Copy Number Variations, Genotype, Deoxyguanosine kinase, Biology, DGUOK, Nucleoside salvage, 03 medical and health sciences, chemistry.chemical_compound, Genetics, Animals, Humans, Nucleotide, Molecular Biology, Genetics (clinical), Zebrafish, chemistry.chemical_classification, 0303 health sciences, Gene Expression Profiling, 030305 genetics & heredity, Nucleosides, General Medicine, Molecular biology, 3. Good health, Mitochondria, Phosphotransferases (Alcohol Group Acceptor), Genes, Mitochondrial, Phenotype, chemistry, Dietary Supplements, Mutation, General Article, Nucleoside

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0505c80455fbb213d177489f1cf457df
https://pubmed.ncbi.nlm.nih.gov/30428046

المؤلفون: Juliane S Müller, Rita Horvath, Stefan Hettwer, Emily O'Connor, Sally Spendiff, David P. Burns, Hanns Lochmüller, Clarke R. Slater, George Cairns, Armin Mäder, Andreas Roos

المساهمون: Spendiff, Sally [0000-0001-9579-3514], Lochmüller, Hanns [0000-0003-2324-8001], Apollo - University of Cambridge Repository

المصدر: Cells
Volume 8
Issue 8
Cells, Vol 8, Iss 8, p 848 (2019)

مصطلحات موضوعية: 0301 basic medicine, myosin IXa, animal structures, RHOA, Mutation, Missense, Myo9aa, Medizin, Myosins, Biology, unconventional myosin, Article, Neuromuscular junction, Motor protein, Synapse, 03 medical and health sciences, 0302 clinical medicine, Myosin, medicine, Animals, lcsh:QH301-705.5, Zebrafish, Rho-associated protein kinase, rho-Associated Kinases, Agrin, neuromuscular junction, fungi, General Medicine, biology.organism_classification, Cell biology, 030104 developmental biology, medicine.anatomical_structure, lcsh:Biology (General), nervous system, biology.protein, Myo9ab, NT1654, fasudil, 030217 neurology & neurosurgery

وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9392904110d9b6302f399f76d928bf8e
https://doi.org/10.3390/cells8080848

المؤلفون: Boglarka, Bansagi, Vietxuan, Phan, Mark R, Baker, Julia, O'Sullivan, Matthew J, Jennings, Roger G, Whittaker, Juliane S, Müller, Jennifer, Duff, Helen, Griffin, James A L, Miller, Grainne S, Gorman, Hanns, Lochmüller, Patrick F, Chinnery, Andreas, Roos, Laura E, Swan, Rita, Horvath

المصدر: Neurology

مصطلحات موضوعية: Adult, Male, Hamartoma, PTEN Phosphohydrolase, Article, Hereditary Central Nervous System Demyelinating Diseases, Mutation, Exome Sequencing, Humans, Genetic Predisposition to Disease, Hereditary Sensory and Motor Neuropathy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::4f7d77dc9adf70de9c7c394ae45be3e4
https://pubmed.ncbi.nlm.nih.gov/29720545