المؤلفون: Serdal Gungor, Yavuz Oktay, Semra Hiz, Álvaro Aranguren-Ibáñez, Ipek Kalafatcilar, Ahmet Yaramis, Ezgi Karaca, Uluc Yis, Ece Sonmezler, Burcu Ekinci, Mahmut Aslan, Elmasnur Yilmaz, Bilge Özgör, Sunitha Balaraju, Nora Szabo, Steven Laurie, Sergi Beltran, Daniel G. MacArthur, Denisa Hathazi, Ana Töpf, Andreas Roos, Hanns Lochmuller, Isabelle Vernos, Rita Horvath

المصدر: iScience, Vol 24, Iss 1, Pp 101948- (2021)

مصطلحات موضوعية: Biological Sciences, Neuroscience, Molecular Neuroscience, Clinical Neuroscience, Systems Biology, Protemics, Science

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2589004220311457Test; https://doaj.org/toc/2589-0042Test

الوصول الحر: https://doaj.org/article/2e92aa318b974cfabac7dd6e6609004bTest

المؤلفون: Polavarapu, Kiran^1,2 (AUTHOR), Sunitha, Balaraju^3,4,5 (AUTHOR), Töpf, Ana³ (AUTHOR), Preethish-Kumar, Veeramani^1,6 (AUTHOR), Thompson, Rachel² (AUTHOR), Vengalil, Seena¹ (AUTHOR), Nashi, Saraswati¹ (AUTHOR), Bardhan, Mainak¹ (AUTHOR), Sanka, Sai Bhargava¹ (AUTHOR), Huddar, Akshata^1,7 (AUTHOR), Unnikrishnan, Gopikrishnan^1,8 (AUTHOR), Arunachal, Gautham⁹ (AUTHOR), Girija, Manu Santhappan¹ (AUTHOR), Porter, Anna³ (AUTHOR), Azuma, Yoshiteru³ (AUTHOR), Lorenzoni, Paulo José¹⁰ (AUTHOR), Baskar, Dipti¹ (AUTHOR), Anjanappa, Ram Murthy¹ (AUTHOR), Keertipriya, Madassu¹ (AUTHOR), Padmanabh, Hansashree¹ (AUTHOR)

المصدر: Brain: A Journal of Neurology. Jan2024, Vol. 147 Issue 1, p281-296. 16p.

مصطلحات موضوعية: *CONGENITAL myasthenic syndromes, *ADRENERGIC agonists, *MYONEURAL junction, *GENETIC testing, *BASAL lamina, *FACIOSCAPULOHUMERAL muscular dystrophy

مصطلحات جغرافية: SOUTH Asia, INDIA

المؤلفون: Polavarapu, Kiran, Sunitha, Balaraju, Töpf, Ana, Preethish-Kumar, Veeramani, Thompson, Rachel, Vengalil, Seena, Nashi, Saraswati, Bardhan, Mainak, Sanka, Sai Bhargava, Huddar, Akshata, Unnikrishnan, Gopikrishnan, Arunachal, Gautham, Girija, Manu Santhappan, Porter, Anna, Azuma, Yoshiteru, Lorenzoni, Paulo José, Baskar, Dipti, Anjanappa, Ram Murthy, Keertipriya, Madassu, Padmanabh, Hansashree, Harikrishna, Ganaraja Valakunja, Laurie, Steve, Matalonga, Leslie, Horvath, Rita, Nalini, Atchayaram, Lochmüller, Hanns

المساهمون: National Human Genome Research Institute, National Eye Institute, National Heart, Lung and Blood Institute, RD-Connect Genome-Phenome Analysis, EJP-RD, INB/ELIXIR-ES, Canadian Institutes of Health Research, Muscular Dystrophy Canada, Canada Foundation for Innovation, Canada Research Chairs program, Canada Research Chair in Neuromuscular Genomics and Health, Newton fund, European Union’s Horizon 2020

المصدر: Brain ; volume 147, issue 1, page 281-296 ; ISSN 0006-8950 1460-2156

مصطلحات موضوعية: Neurology (clinical)

الإتاحة: https://doi.org/10.1093/brain/awad315Test
https://academic.oup.com/brain/article-pdf/147/1/281/55028369/awad315.pdfTest

المؤلفون: Polavarapu, Kiran, Sunitha, Balaraju, Töpf, Ana, Vengalil, Seena, Nashi, Saraswati, Kumar, Veeramani Preethish, Thompson, Rachel, Sanka, Sai Bhargava, Baskar, Dipti, Unnikrishnan, Gopikrishan, Huddar, Akshata, Porter, Anna, Azuma, Yoshiteru, Bardhan, Mainak, Arunachal, Gautham, Horvath, Rita, Nalini, Atchayaram, Lochmüller, Hanns

المصدر: Journal of the Neurological Sciences ; volume 455, page 122042 ; ISSN 0022-510X

مصطلحات موضوعية: Neurology (clinical), Neurology

الإتاحة: https://doi.org/10.1016/j.jns.2023.122042Test
https://api.elsevier.com/content/article/PII:S0022510X23015034?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0022510X23015034?httpAccept=text/plainTest

المؤلفون: Sunitha, Balaraju, Gayathri, Narayanappa, Kumar, Manish, Keshava Prasad, Thottethodi Subrahmanya, Nalini, Atchayaram, Padmanabhan, Balasundaram, Srinivas Bharath, Muchukunte Mukunda

المساهمون: Indian Council of Medical Research, Council of Scientific and Industrial Research

المصدر: Journal of Neurochemistry ; volume 138, issue 1, page 174-191 ; ISSN 0022-3042 1471-4159

الإتاحة: https://doi.org/10.1111/jnc.13626Test

المؤلفون: Uluç Yiş, Denisa Hathazi, Serdal Güngör, Ezgi Karaca, Ipek Kalafatcilar, Ahmet Yaramis, Ece Sonmezler, Nóra Zs Szabó, Ana Töpf, Elmasnur Yilmaz, Daniel G. MacArthur, Andreas Roos, Burcu Ekinci, Sunitha Balaraju, Steven Laurie, Bilge Özgör, Rita Horvath, Mahmut Aslan, Isabelle Vernos, Yavuz Oktay, Semra Hiz, Hanns Lochmüller, Sergi Beltran, Álvaro Aranguren-Ibáñez

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

المصدر: iScience
iScience, Vol 24, Iss 1, Pp 101948-(2021)

مصطلحات موضوعية: 0301 basic medicine, Protemics, Medizin, 02 engineering and technology, Molecular neuroscience, macromolecular substances, medicine.disease_cause, Article, Extracellular matrix, 03 medical and health sciences, Malalties del neurodesenvolupament, Microtubule, medicine, lcsh:Science, Cell adhesion, Cytoskeleton, health care economics and organizations, Mutation, Multidisciplinary, biology, Systems Biology, Clinical Neuroscience, Biological Sciences, 021001 nanoscience & nanotechnology, Cell biology, 030104 developmental biology, Tubulin, biology.protein, lcsh:Q, Axon guidance, Molecular Neuroscience, 0210 nano-technology, Proteïnes, Genètica, Neuroscience

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7396541582b104f4e888201af99ec4d8Test

المؤلفون: Francis, Amirtharaj, Sunitha, Balaraju, Vinodh, Kandavalli, Polavarapu, Kiran, Katkam, Shiva Krishna, Modi, Sailesh, Bharath, M. M. Srinivas, Gayathri, Narayanappa, Nalini, Atchayaram, Thangaraj, Kumarasamy

المساهمون: Sampaolesi, Maurilio

المصدر: PLoS ONE ; volume 9, issue 7, page e102763 ; ISSN 1932-6203

الإتاحة: https://doi.org/10.1371/journal.pone.0102763Test

المؤلفون: Ramadasan-Nair, Renjini, Gayathri, Narayanappa, Mishra, Sudha, Sunitha, Balaraju, Mythri, Rajeswara Babu, Nalini, Atchayaram, Subbannayya, Yashwanth, Harsha, Hindalahalli Chandregowda, Kolthur-Seetharam, Ullas, Bharath, Muchukunte Mukunda Srinivas

المصدر: Journal of Biological Chemistry ; volume 289, issue 1, page 485-509 ; ISSN 0021-9258

مصطلحات موضوعية: Cell Biology, Molecular Biology, Biochemistry

الإتاحة: https://doi.org/10.1074/jbc.m113.493270Test
https://api.elsevier.com/content/article/PII:S0021925820416308?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0021925820416308?httpAccept=text/plainTest

المؤلفون: Elmasnur Yilmaz, Sunitha Balaraju, Serdal Güngör, Yavuz Oktay, Semra Hiz, Ana Töpf, Hanns Lochmüller, Daniel G. MacArthur, Rachel Thompson, Uluç Yiş, Rita Horvath, Steven Laurie, Andreas Roos, Ahmet Yaramis, Ece Sonmezler

المساهمون: Balaraju, Sunitha [0000-0003-0273-1918], MacArthur, Daniel G [0000-0002-5771-2290], Lochmüller, Hanns [0000-0003-2324-8001], Apollo - University of Cambridge Repository, MacArthur, Daniel G. [0000-0002-5771-2290]

المصدر: European journal of human genetics : EJHG

مصطلحات موضوعية: Adult, Male, Cerebellum, Heterozygote, Developmental Disabilities, Medizin, dysmorphism, Mutation, Missense, Biology, Brief Communication, medicine.disease_cause, Nervous System Malformations, Article, 03 medical and health sciences, Genetics, medicine, Missense mutation, Humans, Child, Genetics (clinical), Exome sequencing, 0303 health sciences, Mutation, Trastorns del neurodesenvolupament, brief-communication, 030305 genetics & heredity, Homozygote, 1. No poverty, Infant, autosomal recessive, Heterozygote advantage, West Syndrome, Phenotype, 3. Good health, Pedigree, TLK2, neurodevelopmental disease, medicine.anatomical_structure, Female, Haploinsufficiency, Proteïnes, Protein Kinases, Spasms, Infantile, Genètica

وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document; image/png; image/jpeg; text/xml; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4ae66386100761b3649aba86ab8c066Test
https://www.repository.cam.ac.uk/handle/1810/293649Test

المؤلفون: Grace McMacken, Judith Cossins, Seena Vengalil, Robert McFarland, Charu Deshpande, Rita Horvath, Astrid Pechmann, Helen Roper, Sunitha Balaraju, Robert W. Taylor, Saraswati Nashi, Nalini Atchayaram, Janbernd Kirschner, Kiran Polavarapu, David Beeson, Steven Laurie, Ana Töpf, Niranjan Prakash Mahajan, Veeramani Preethish Kumar, Ines A. Barbosa, Hanns Lochmüller

المساهمون: Balaraju, Sunitha [0000-0003-0273-1918], Apollo - University of Cambridge Repository, Horvath, Rita [0000-0002-9841-170X]

المصدر: European Journal of Human Genetics

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Malalties neuromusculars, Genetic testing, Neuromuscular transmission, Mutation, Missense, Organic Anion Transporters, 45/23, 631/208/2489/1512, Brief Communication, Mitochondrial Proteins, 03 medical and health sciences, 0302 clinical medicine, Intellectual Disability, Intellectual disability, Genetics, medicine, Missense mutation, Humans, Muscle, Skeletal, health care economics and organizations, Genetics (clinical), Exome sequencing, Myasthenic Syndromes, Congenital, business.industry, Genetic heterogeneity, Haplotype, Homozygote, 631/208/514/2254, brief-communication, Congenital myasthenic syndrome, medicine.disease, 3. Good health, 030104 developmental biology, Haplotypes, Next-generation sequencing, Female, Malalties congènites, business, 030217 neurology & neurosurgery, Founder effect

وصف الملف: text/xml; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13f20bae1015e38441624b4a45e35f05Test
https://www.repository.cam.ac.uk/handle/1810/310287Test