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

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/89c11aed01764fe28b3d252a2c5bccf7

المؤلفون: Jessica L. Zambonin, Allison Bellomo, Hilla Ben-Pazi, David B. Everman, Lee M. Frazer, Michael T. Geraghty, Amy D. Harper, Julie R. Jones, Benjamin Kamien, Kristin Kernohan, Mary Kay Koenig, Matthew Lines, Elizabeth Emma Palmer, Randal Richardson, Reeval Segel, Mark Tarnopolsky, Jason R. Vanstone, Melissa Gibbons, Abigail Collins, Brent L. Fogel, Care4Rare Canada Consortium, Tracy Dudding-Byth, Kym M. Boycott

المصدر: Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-8 (2017)

مصطلحات موضوعية: Human phenotype ontologies, Congenital non-progressive spinocerebellar ataxia, Spinocerebellar ataxia type 29, SCA29, Cerebellar atrophy, ITPR1, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-017-0672-7; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/6eab3bb9f75d4cc9bb50e592a22f156a

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

المصدر: NATURE COMMUNICATIONS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Nature Communications
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Universidad de Alicante (UA)
Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)

مصطلحات موضوعية: Male, 0301 basic medicine, Developmental Disabilities, General Physics and Astronomy, 0302 clinical medicine, Neurodevelopmental disorder, Loss of Function Mutation, RNA-Seq, Neurons, Regulation of gene expression, Myoclonic Cerebellar Dyssynergia, Multidisciplinary, Neurodevelopmental disorders, Developmental disorders, Rigor Mortis, Gene Expression Regulation, Developmental, SMN Complex Proteins, Ribonucleoproteins, Small Nuclear, Hypotonia, Pedigree, Cell biology, medicine.anatomical_structure, Child, Preschool, Gene Knockdown Techniques, Muscle Hypotonia, Drosophila, Female, medicine.symptom, Ataxia, Science, Induced Pluripotent Stem Cells, Biology, Polymorphism, Single Nucleotide, Article, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, medicine, Animals, Humans, snRNP, Amino Acid Sequence, Alleles, Loss function, Cerebellar ataxia, General Chemistry, Motor neuron, medicine.disease, Gene Ontology, HEK293 Cells, 030104 developmental biology, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ed9687e3344ab597c47489b1520ba6f
https://doi.org/10.1038/s41467-021-22627-w

المؤلفون: Fadi F. Hamdan, Karin M E J Oberndorff, Eunjoon Kim, Randal Richardson, Guy A. Rouleau, Jae-Ran Lee, Rocio Moran, Henna Tyynismaa, Elisa Rahikkala, Nienke E. Verbeek, Doyoun Kim, Catherine Brunel-Guitton, So Hee Lim, Joost Nicolai, Tjitske Kleefstra, Sonja A. de Munnik, Michèl A.A.P. Willemsen, Connie T.R.M. Stumpel, Allison Schreiber, Kym M. Boycott, Justin D. Wagner, Jean Claude Décarie, Grant A. Mitchell, Elsa Rossignol, Jacques L. Michaud, Nella Junna, Inge Cuppen, Keith Van Haren, Myriam Srour, Erik-Jan Kamsteeg

المساهمون: Klinische Neurowetenschappen, MUMC+: MA Med Staf Spec Neurologie (9), RS: GROW - Developmental Biology, RS: GROW - R4 - Reproductive and Perinatal Medicine

المصدر: Human Mutation, 36, 1, pp. 69-78
Human Mutation, 36(1), 69. Wiley-Liss Inc.
Human Mutation, 36, 69-78
Human Mutation, 36(1), 69-78. Wiley

مصطلحات موضوعية: Adult, Male, Models, Molecular, Adolescent, Neurite, Intellectual disability, Mutation, Missense, Kinesins, Biology, Research Support, Young Adult, Epilepsy, Journal Article, Genetics, medicine, Humans, Missense mutation, Genetics(clinical), Hereditary Sensory and Autonomic Neuropathies, Non-U.S. Gov't, Child, Sensory disorders Radboud Institute for Molecular Life Sciences [Radboudumc 12], Gene, KIF1A, Genetics (clinical), Medicine(all), Axonal neuropathy, De novo mutations, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Research Support, Non-U.S. Gov't, Peripheral Nervous System Diseases, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], medicine.disease, Phenotype, Protein Structure, Tertiary, Peripheral neuropathy, Spastic paraparesis, Child, Preschool, Paraparesis, Spastic, Cerebellar atrophy, Nervous System Diseases, Cognition Disorders, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]

وصف الملف: image/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d54bfe832a35a7c9aa8c8ccc7801298e
https://doi.org/10.1002/humu.22709

المؤلفون: Randal Richardson, Raymond Tse, Edward P. Buchanan

المصدر: The Journal of Hand Surgery. 38:1567-1570

مصطلحات موضوعية: Male, medicine.medical_specialty, Horner Syndrome, Horner syndrome, Risk Assessment, Severity of Illness Index, Occupational Therapy, medicine, Humans, Orthopedics and Sports Medicine, Range of Motion, Articular, Brachial Plexus Neuropathies, Palsy, business.industry, Recovery of Function, medicine.disease, Surgery, Treatment Outcome, Child, Preschool, Arm, Presentation (obstetrics), business, Brachial plexus, Paralysis, Obstetric, Clinical progression, Follow-Up Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb07bdd0a862907cd418b5903e01d805
https://doi.org/10.1016/j.jhsa.2013.04.021