المؤلفون: Alistair T. Pagnamenta, Carme Camps, Edoardo Giacopuzzi, John M. Taylor, Mona Hashim, Eduardo Calpena, Pamela J. Kaisaki, Akiko Hashimoto, Jing Yu, Edward Sanders, Ron Schwessinger, Jim R. Hughes, Gerton Lunter, Helene Dreau, Matteo Ferla, Lukas Lange, Yesim Kesim, Vassilis Ragoussis, Dimitrios V. Vavoulis, Holger Allroggen, Olaf Ansorge, Christian Babbs, Siddharth Banka, Benito Baños-Piñero, David Beeson, Tal Ben-Ami, David L. Bennett, Celeste Bento, Edward Blair, Charlotte Brasch-Andersen, Katherine R. Bull, Holger Cario, Deirdre Cilliers, Valerio Conti, E. Graham Davies, Fatima Dhalla, Beatriz Diez Dacal, Yin Dong, James E. Dunford, Renzo Guerrini, Adrian L. Harris, Jane Hartley, Georg Hollander, Kassim Javaid, Maureen Kane, Deirdre Kelly, Dominic Kelly, Samantha J. L. Knight, Alexandra Y. Kreins, Erika M. Kvikstad, Craig B. Langman, Tracy Lester, Kate E. Lines, Simon R. Lord, Xin Lu, Sahar Mansour, Adnan Manzur, Reza Maroofian, Brian Marsden, Joanne Mason, Simon J. McGowan, Davide Mei, Hana Mlcochova, Yoshiko Murakami, Andrea H. Németh, Steven Okoli, Elizabeth Ormondroyd, Lilian Bomme Ousager, Jacqueline Palace, Smita Y. Patel, Melissa M. Pentony, Chris Pugh, Aboulfazl Rad, Archana Ramesh, Simone G. Riva, Irene Roberts, Noémi Roy, Outi Salminen, Kyleen D. Schilling, Caroline Scott, Arjune Sen, Conrad Smith, Mark Stevenson, Rajesh V. Thakker, Stephen R. F. Twigg, Holm H. Uhlig, Richard van Wijk, Barbara Vona, Steven Wall, Jing Wang, Hugh Watkins, Jaroslav Zak, Anna H. Schuh, Usha Kini, Andrew O. M. Wilkie, Niko Popitsch, Jenny C. Taylor

المصدر: Genome Medicine, Vol 15, Iss 1, Pp 1-25 (2023)

مصطلحات موضوعية: Genome sequencing, Rare diseases, Structural variant, Splice site variant, Non-coding, Diagnostic yield, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/c9f00f4d0c70402d8c69f3f7e4981fbc

المؤلفون: Marie Bernkopf, Ummi B. Abdullah, Stephen J. Bush, Katherine A. Wood, Sahar Ghaffari, Eleni Giannoulatou, Nils Koelling, Geoffrey J. Maher, Loïc M. Thibaut, Jonathan Williams, Edward M. Blair, Fiona Blanco Kelly, Angela Bloss, Emma Burkitt-Wright, Natalie Canham, Alexander T. Deng, Abhijit Dixit, Jacqueline Eason, Frances Elmslie, Alice Gardham, Eleanor Hay, Muriel Holder, Tessa Homfray, Jane A. Hurst, Diana Johnson, Wendy D. Jones, Usha Kini, Emma Kivuva, Ajith Kumar, Melissa M. Lees, Harry G. Leitch, Jenny E. V. Morton, Andrea H. Németh, Shwetha Ramachandrappa, Katherine Saunders, Deborah J. Shears, Lucy Side, Miranda Splitt, Alison Stewart, Helen Stewart, Mohnish Suri, Penny Clouston, Robert W. Davies, Andrew O. M. Wilkie, Anne Goriely

المصدر: Nature Communications, Vol 14, Iss 1, Pp 1-11 (2023)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/092225fc6615446f96c5855f1911ddee

المؤلفون: Saoud Al-Khuzaei, Karl A. Z. Hudspith, Suzanne Broadgate, Morag E. Shanks, Penny Clouston, Andrea H. Németh, Stephanie Halford, Susan M. Downes

المصدر: BMC Ophthalmology, Vol 21, Iss 1, Pp 1-8 (2021)

مصطلحات موضوعية: Retina, Macular dystrophy, Next generation sequencing, CRX, ABCA4 sequence variant, mutation, Phenotype/genotype, reduced penetrance, family survey, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2415

URL الوصول: https://doaj.org/article/6db5a84dc0f64ef8971910df600dd251

المؤلفون: John Taylor, Jude Craft, Edward Blair, Sarah Wordsworth, David Beeson, Saleel Chandratre, Judith Cossins, Tracy Lester, Andrea H. Németh, Elizabeth Ormondroyd, Smita Y. Patel, Alistair T. Pagnamenta, Jenny C. Taylor, Kate L. Thomson, Hugh Watkins, Andrew O. M. Wilkie, Julian C. Knight

المصدر: Genome Medicine, Vol 11, Iss 1, Pp 1-12 (2019)

مصطلحات موضوعية: Genetic disease, Genome sequencing, Exome, Multidisciplinary team, Next-generation sequencing, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13073-019-0651-9; https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/cdc63af88c78403ab16517dff6627483

المؤلفون: Maggie M. K. Wong, Stephanie D. Hoekstra, Jane Vowles, Lauren M. Watson, Geraint Fuller, Andrea H. Németh, Sally A. Cowley, Olaf Ansorge, Kevin Talbot, Esther B. E. Becker

المصدر: Acta Neuropathologica Communications, Vol 6, Iss 1, Pp 1-14 (2018)

مصطلحات موضوعية: Ataxia, Stem cells, Purkinje cells, Neurodegeneration, Cerebellum, Protein kinase C gamma, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s40478-018-0600-7; https://doaj.org/toc/2051-5960

URL الوصول: https://doaj.org/article/d36835a4edd448ddb8d5f839cc6adf53

المؤلفون: Muriel T. N. Panouillères, Raed A. Joundi, Sonia Benitez-Rivero, Binith Cheeran, Christopher R. Butler, Andrea H. Németh, R. Chris Miall, Ned Jenkinson

المصدر: Scientific Reports, Vol 7, Iss 1, Pp 1-12 (2017)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/834bdd1190104655a9bc9d8d4d367e37

المؤلفون: Muriel T. N. Panouillères, Raed A. Joundi, Sonia Benitez-Rivero, Binith Cheeran, Christopher R. Butler, Andrea H. Németh, R. Chris Miall, Ned Jenkinson

المصدر: Scientific Reports, Vol 8, Iss 1, Pp 1-1 (2018)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/9317aaf1ba084df4a9d9594e9a34f7be

المؤلفون: Deepa S. Rajan, Sukhleen Kour, Tyler R. Fortuna, Margot A. Cousin, Sarah S. Barnett, Zhiyv Niu, Dusica Babovic-Vuksanovic, Eric W. Klee, Brian Kirmse, Micheil Innes, Siri Lynne Rydning, Kaja K. Selmer, Magnus Dehli Vigeland, Anne Kjersti Erichsen, Andrea H. Nemeth, Francisca Millan, Catherine DeVile, Katherine Fawcett, Adrien Legendre, David Sims, Ricardo Parolin Schnekenberg, Lydie Burglen, Sandra Mercier, Somayeh Bakhtiari, Rosario Francisco-Velilla, Azman Embarc-Buh, Encarnacion Martinez-Salas, Kristen Wigby, Jerica Lenberg, Jennifer R. Friedman, Michael C. Kruer, Udai Bhan Pandey

المصدر: Frontiers in Cell and Developmental Biology, Vol 10 (2022)

مصطلحات موضوعية: Gemin5, ataxia, cerebellar atrophy, developmental delay, neurodegeneration, cell death, Biology (General), QH301-705.5

Relation: https://www.frontiersin.org/articles/10.3389/fcell.2022.783762/full; https://doaj.org/toc/2296-634X; https://doaj.org/article/5d4040678c7b47c1897c45d67b96d069

الاتاحة: https://doi.org/10.3389/fcell.2022.783762
https://doaj.org/article/5d4040678c7b47c1897c45d67b96d069

المؤلفون: Gilbert Thomas‐Black, Daniel R. Altmann, Harry Crook, Nita Solanky, Ferran Prados Carrasco, Marco Battiston, Francesco Grussu, Marios C. Yiannakas, Baris Kanber, Jasleen K. Jolly, Jon Brett, Susan M. Downes, Marni Moran, Ping K. Chan, Emmanuel Adewunmi, Claudia A.M. Gandini Wheeler‐Kingshott, Andrea H. Németh, Richard Festenstien, Fion Bremner, Paola Giunti

مصطلحات موضوعية: research

Relation: 10779/aru.23782626.v1; https://figshare.com/articles/journal_contribution/Multimodal_Analysis_of_the_Visual_Pathways_in_Friedreich_s_Ataxia_Reveals_Novel_Biomarkers/23782626

الاتاحة: https://figshare.com/articles/journal_contribution/Multimodal_Analysis_of_the_Visual_Pathways_in_Friedreich_s_Ataxia_Reveals_Novel_Biomarkers/23782626

المؤلفون: Chetan Khantibai Patel (11668321), Suzanne Broadgate (11668324), Ahmed Shalaby (5917118), Jing Yu (81085), Andrea H. Nemeth (11668327), Susan M Downes (11668330), Stephanie Halford (173413)

مصطلحات موضوعية: Medicine, Genetics, Biotechnology, Evolutionary Biology, Cancer, Mental Health, Virology, Computational Biology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Chemical Sciences not elsewhere classified, Knobloch syndrome, COL18A1, paediatric retinal detachment, paediatric vitreous opacities

Relation: https://figshare.com/articles/journal_contribution/Whole_genome_sequencing_in_a_Knobloch_syndrome_family_confirms_the_molecular_diagnosis/16965277

الاتاحة: https://doi.org/10.6084/m9.figshare.16965277.v1

المؤلفون: Sukhleen Kour, Deepa S. Rajan, Tyler R. Fortuna, Eric N. Anderson, Caroline Ward, Youngha Lee, Sangmoon Lee, Yong Beom Shin, Jong-Hee Chae, Murim Choi, Karine Siquier, Vincent Cantagrel, Jeanne Amiel, Elliot S. Stolerman, Sarah S. Barnett, Margot A. Cousin, Diana Castro, Kimberly McDonald, Brian Kirmse, Andrea H. Nemeth, Dhivyaa Rajasundaram, A. Micheil Innes, Danielle Lynch, Patrick Frosk, Abigail Collins, Melissa Gibbons, Michele Yang, Isabelle Desguerre, Nathalie Boddaert, Cyril Gitiaux, Siri Lynne Rydning, Kaja K. Selmer, Roser Urreizti, Alberto Garcia-Oguiza, Andrés Nascimento Osorio, Edgard Verdura, Aurora Pujol, Hannah R. McCurry, John E. Landers, Sameer Agnihotri, E. Corina Andriescu, Shade B. Moody, Chanika Phornphutkul, Maria J. Guillen Sacoto, Amber Begtrup, Henry Houlden, Janbernd Kirschner, David Schorling, Sabine Rudnik-Schöneborn, Tim M. Strom, Steffen Leiz, Kali Juliette, Randal Richardson, Ying Yang, Yuehua Zhang, Minghui Wang, Jia Wang, Xiaodong Wang, Konrad Platzer, Sandra Donkervoort, Carsten G. Bönnemann, Matias Wagner, Mahmoud Y. Issa, Hasnaa M. Elbendary, Valentina Stanley, Reza Maroofian, Joseph G. Gleeson, Maha S. Zaki, Jan Senderek, Udai Bhan Pandey

المصدر: Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)

مصطلحات موضوعية: Science

Relation: https://doi.org/10.1038/s41467-021-22627-w; https://doaj.org/toc/2041-1723; https://doaj.org/article/89c11aed01764fe28b3d252a2c5bccf7

الاتاحة: https://doi.org/10.1038/s41467-021-22627-w
https://doaj.org/article/89c11aed01764fe28b3d252a2c5bccf7

المؤلفون: Gill Wilson, Anna de Burca, Marta Bleda, Lucy R. Wedderburn, Matthew Welland, Kathleen Stirrups, Valentina Cipriani, Kerrie Woods, Vijeya Ganesan, Susan Hill, Rosaline Quinlivan, Georgia Chan, Mehul T. Dattani, Robert McFarland, Graeme C.M. Black, Rutendo Mapeta, Augusto Rendon, Francesco Muntoni, James O.J. Davies, Mina Ryten, Rebecca E. Foulger, Arianna Tucci, Dina Halai, Tom Fowler, Noemi B.A. Roy, Sarah Leigh, Dragana Josifova, Philip Twiss, Ana L.T. Tavares, Zerin Hyder, Detlef Bockenhauer, Patrick Yu-Wai-Man, Lara Abulhoul, Nikolas Pontikos, Anthony T. Moore, Huw R. Morris, Patrick F. Chinnery, Nicholas W. Wood, Ellen A. Thomas, Shehla Mohammed, Sofia Douzgou, Tanya Lam, Kate Gibson, Robert Sarkany, Teofila Bueser, Wei Wei, Siddharth Banka, Alexander Broomfield, Hiva Fassihi, Nils Koelling, Carolyn Campbell, James Buchanan, Melita Irving, Sandrine Compeyrot-Lacassagne, Karola Rehmström, Austen Worth, Nikhil Thapar, Andrew R. Webster, Paul Brennan, Rita Horvath, Gavin Arno, Richard H Scott, Sam Malka, Andrew O.M. Wilkie, Sofie Ashford, Maria Bitner-Glindzicz, Jana Vandrovcova, William G. Newman, Caroline F. Wright, Andrew M. Schaefer, Roger F.L. James, Robert W. Taylor, Melanie Babcock, Arjune Sen, Emma Baple, Ellen M. McDonagh, Stephanie Grunewald, Loukas Moutsianas, Melissa A. Haendel, Olivera Spasic-Boskovic, Eleanor G. Seaby, Anna Need, Clarissa Pilkington, Sarah Wordsworth, Shamima Rahman, Christine Patch, Colin Wallis, Kristina Ibanez, Bishoy Habib, Eik Haraldsdottir, Huw B. Thomas, Razvan Sultana, Andrea H. Németh, Agata Wolejko, Claire Palles, Phil Beales, Adam C. Shaw, Letizia Vestito, Emily Li, Sarah Rose, Sarah Hunter, Angela Matchan, Genevieve Say, Dalia Kasperaviciute, Henry Houlden, Raymond T. O’Keefe, R. Andres Floto, Jill Clayton-Smith, John B. Taylor, Hywel J. Williams, Volker Straub, Val Davison, Helen Savage, John Chisholm, Eleanor Dewhurst, Charles Crichton, Andrea Haworth, Clare Turnbull, Carolyn Tregidgo, Carme Camps, Christopher Penkett, Emer O’Connor, Georgina Hall, Lyn S. Chitty, Sally Halsall, Andrew D. Mumford, Annette G. Wagner, Eleanor Williams, Mark Bale, Julius O. Jacobsen, Willem H. Ouwehand, Charu Deshpande, Gavin Burns, Smita Y. Patel, James Polke, Thiloka Ratnaike, Gavin Fuller, John Burn, Kenneth E. S. Poole, Emma Footitt, John R. Bradley, Suzanne Wood, Russell J. Grocock, Jenny C. Taylor, Louise Izatt, Kikkeri N. Naresh, Katherine R. Smith, Nigel Burrows, Katrina Newland, Peter N. Robinson, Sarju G. Mehta, Michael A. Simpson, Michael R. Barnes, Pilar Cacheiro, Olivia Niblock, Tracy Lester, Dimitris Polychronopoulos, Helen Brittain, John A. Sayer, Antonio Martin, Eshika Haque, Sean Humphray, Douglass M. Turnbull, Damian Smedley, Andrew Devereau, Stefan Gräf, Sian Ellard, Ivone U.S. Leong, Martin G. Reese, Matthias Wielscher, Louise C. Daugherty, Perry M. Elliott, F. Lucy Raymond, Cecilia Compton, David Bentley, Catherine Snow, James Welch, Frances Flinter, Dom McMullan, Mark J. Caulfield, Paul Aurora, Mark Gurnell, Mary Kasanicki, I. Karen Temple, Michel Michaelides, Deborah Ruddy, Leema Robert, Janice Yip, Grainne S. Gorman, Andrew C. Browning, Richard Quinton, Maureen Cleary, Jamie M. Ellingford, Angela Douglas, Christopher Boustred

المساهمون: Investigators, The 100,000 Genomes Project Pilot

المصدر: Mumford, A D 2021, ' 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care-Preliminary Report ', New England Journal of Medicine, vol. 385, no. 20, pp. 1868-1880 . https://doi.org/10.1056/NEJMoa2035790

مصطلحات موضوعية: Adult, Male, Proband, medicine.medical_specialty, Adolescent, Pilot Projects, Genomics, Polymerase Chain Reaction, Genome, State Medicine, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Health care, Human Phenotype Ontology, Humans, Medicine, Child, Exome sequencing, 030304 developmental biology, Family Characteristics, 0303 health sciences, Whole Genome Sequencing, Genome, Human, business.industry, Genetic Variation, Rare Diseases/diagnosis, General Medicine, Middle Aged, United Kingdom, 3. Good health, Child, Preschool, Family medicine, Medical genetics, Female, business, Bristol, 030217 neurology & neurosurgery, Rare disease

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07e7a9cb72d07e6534b79e777083f769
https://doi.org/10.1056/nejmoa2035790

المؤلفون: Aikaterini Vezyroglou, Rhoda Akilapa, Katy Barwick, Saskia Koene, Catherine A. Brownstein, Muriel Holder-Espinasse, Andrew E. Fry, Andrea H. Németh, George K. Tofaris, Eleanor Hay, Imelda Hughes, Sahar Mansour, Santosh R. Mordekar, Miranda Splitt, Peter D. Turnpenny, Demetria Demetriou, Tamara T. Koopmann, Claudia A.L. Ruivenkamp, Pankaj B. Agrawal, Lucinda Carr, Virginia Clowes, Neeti Ghali, Susan Elizabeth Holder, Jessica Radley, Alison Male, Sanjay M. Sisodiya, Manju A. Kurian, J. Helen Cross, Meena Balasubramanian

المصدر: Neurology, 99(14), E1511-E1526. LIPPINCOTT WILLIAMS & WILKINS

مصطلحات موضوعية: Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e23883a196d3c5ae16dc2de06f170846
https://hdl.handle.net/1887/3562155

المؤلفون: Gabriela Jones, Cheryl Stopford, Elisabeth Rosser, Katrina Merrifield, Henrietta Lefroy, Nicola S. Cooper, Lauren M Cairns, Sarah Buston, Andrew G L Douglas, Asma Hamad, Andrea H. Németh, Simon Holden, Julia Rankin, Vani Jain, Megan Rogers

المصدر: Journal of Medical Genetics. 59:544-548

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Pediatrics, Genetic counseling, Genetic Counseling, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Humans, Dementia, Genetic Testing, Motor Neuron Disease, Predictive testing, Genetics (clinical), Genetic testing, medicine.diagnostic_test, business.industry, Neurodegenerative Diseases, medicine.disease, Penetrance, 030104 developmental biology, Frontotemporal Dementia, Medical genetics, business, Motor neurone disease, 030217 neurology & neurosurgery, Frontotemporal dementia

وصف الملف: text

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::290b526e3bb807a88ec11508af3f9fc0
https://doi.org/10.1136/jmedgenet-2021-107776

المؤلفون: Marie Bernkopf, Ummi B. Abdullah, Stephen J. Bush, Katherine Wood, Sahar Ghaffari, Eleni Giannoulatou, Nils Koelling, Geoffrey J. Maher, Loïc M. Thibault, Jonathan Williams, Edward M. Blair, Fiona Blanco Kelly, Angela Bloss, Emma Burkitt-Wright, Natalie Canham, Alexander T. Deng, Abhijit Dixit, Jacqueline Eason, Frances Elmslie, Alice Gardham, Eleanor Hay, Muriel Holder, Tessa Homfray, Jane A. Hurst, Diana Johnson, Wendy D. Jones, Usha Kini, Emma Kivuva, Ajith Kumar, Melissa M. Lees, Harry G. Leitch, Jenny E. V. Morton, Andrea H. Németh, Shwetha Ramachandrappa, Katherine Saunders, Deborah J. Shears, Lucy Side, Miranda Splitt, Alison Stewart, Helen Stewart, Mohnish Suri, Penny Clouston, Robert W. Davies, Andrew O. M. Wilkie, Anne Goriely

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e5902d3fcb4c9351932fafc42ee645c0
https://doi.org/10.1101/2022.07.26.501520

المؤلفون: Luis A Alcaraz, Sara Álvarez, Mar Jimenez De La Peña, Pilar Tirado, James Hagman, Beatriz Calleja-Pérez, Andrea H. Németh, Alberto Fernández-Jaén, Ana Jiménez de Domingo, Jonathan H. Williams

المصدر: Molecular Syndromology. 12:186-193

مصطلحات موضوعية: Ataxia, business.industry, medicine.disease, Bioinformatics, Phenotype, Hypotonia, Neuroimaging, Genotype, Intellectual disability, Genetics, medicine, Autism, medicine.symptom, business, Genetics (clinical), Tractography

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7031d1e1cb2516ecebc5457b77839130
https://doi.org/10.1159/000513583

المؤلفون: Jean Paul Vonsattel, Christine Tranchant, Jamel Chelly, Katrina Tatton-Brown, Wendy K. Chung, Thomas Wirth, Etty Cortes, Andrea H. Németh, Gabrielle Rudolf, Cécile Hubsch, Nathalie Drouot, Volkan Okur, Christine Y. Kim, Roy N. Alcalay, Mathieu Anheim, Cornelis Blauwendraat

المساهمون: Yale University [New Haven], Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), University College London Hospital, Les Hôpitaux Universitaires de Strasbourg (HUS), Fondation Ophtalmologique Adolphe de Rotschild, University of Oxford [Oxford], Columbia University [New York], Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg (UNISTRA), National Institute on Aging [Bethesda, USA] (NIA), National Institutes of Health [Bethesda] (NIH), Columbia University Medical Center (CUMC), Icahn School of Medicine at Mount Sinai [New York] (MSSM)

المصدر: Ann Neurol
Annals of Neurology
Annals of Neurology, 2020, 88 (5), pp.1028-1033. ⟨10.1002/ana.25863⟩

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Pathology, medicine.medical_specialty, Substantia nigra, Early onset parkinsonism, Article, 03 medical and health sciences, 0302 clinical medicine, Neurodevelopmental disorder, Parkinsonian Disorders, medicine, Humans, Exome, Protein Phosphatase 2, Age of Onset, Exome sequencing, business.industry, Pars compacta, Parkinsonism, Brain, DNA, Middle Aged, medicine.disease, Pedigree, 030104 developmental biology, nervous system, Neurology, Gliosis, Mutation, Mutation (genetic algorithm), Female, Autopsy, Neurology (clinical), medicine.symptom, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4568ad773d94ac614fd2a5d73caeabba
https://doi.org/10.1002/ana.25863

المؤلفون: Henrietta Lefroy, Victoria Harrison, Andrea H. Németh

المصدر: Medicine. 48:545-549

مصطلحات موضوعية: General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5cf78f0499bca8f8526661ac7c3e58c2
https://doi.org/10.1016/j.mpmed.2020.05.009

المؤلفون: Aikaterini, Vezyroglou, Rhoda, Akilapa, Katy, Barwick, Saskia, Koene, Catherine A, Brownstein, Muriel, Holder-Espinasse, Andrew E, Fry, Andrea H, Németh, George K, Tofaris, Eleanor, Hay, Imelda, Hughes, Sahar, Mansour, Santosh R, Mordekar, Miranda, Splitt, Peter D, Turnpenny, Demetria, Demetriou, Tamara T, Koopmann, Claudia A L, Ruivenkamp, Pankaj B, Agrawal, Lucinda, Carr, Virginia, Clowes, Neeti, Ghali, Susan Elizabeth, Holder, Jessica, Radley, Alison, Male, Sanjay M, Sisodiya, Manju A, Kurian, J Helen, Cross, Meena, Balasubramanian

المصدر: Neurology. 99(14)

مصطلحات موضوعية: Phenotype, Cerebellar Ataxia, Dystonic Disorders, Mutation, Humans, Hemiplegia, Sodium-Potassium-Exchanging ATPase

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::67592d339c174537fd45c21ca62fdf2c
https://pubmed.ncbi.nlm.nih.gov/36192182

المؤلفون: Deepa S. Rajan, Sukhleen Kour, Tyler R. Fortuna, Margot A. Cousin, Sarah S. Barnett, Zhiyv Niu, Dusica Babovic-Vuksanovic, Eric W. Klee, Brian Kirmse, Micheil Innes, Siri Lynne Rydning, Kaja K. Selmer, Magnus Dehli Vigeland, Anne Kjersti Erichsen, Andrea H. Nemeth, Francisca Millan, Catherine DeVile, Katherine Fawcett, Adrien Legendre, David Sims, Ricardo Parolin Schnekenberg, Lydie Burglen, Sandra Mercier, Somayeh Bakhtiari, Encarnacion Martinez-Salas, Kristen Wigby, Jerica Lenberg, Jennifer R. Friedman, Michael C. Kruer, Udai Bhan Pandey

مصطلحات موضوعية: Cell Biology, Marine Biology, Cell Development, Proliferation and Death, Cell Metabolism, Cell Neurochemistry, Cellular Interactions (incl. Adhesion, Matrix, Cell Wall), Gemin5, ataxia, cerebellar atrophy, developmental delay, neurodegeneration, cell death, development

Relation: https://figshare.com/articles/figure/Image1_Autosomal_Recessive_Cerebellar_Atrophy_and_Spastic_Ataxia_in_Patients_With_Pathogenic_Biallelic_Variants_in_GEMIN5_PNG/19246311

الاتاحة: https://doi.org/10.3389/fcell.2022.783762.s001
https://figshare.com/articles/figure/Image1_Autosomal_Recessive_Cerebellar_Atrophy_and_Spastic_Ataxia_in_Patients_With_Pathogenic_Biallelic_Variants_in_GEMIN5_PNG/19246311