المؤلفون: Jacqueline Montes, Ashley M. Goodwin, Michael P. McDermott, David Uher, Feliz Marie Hernandez, Kayla Coutts, Julia Cocchi, Margarethe Hauschildt, Kayla M. Cornett, Ashwini K. Rao, Umrao R. Monani, Carol Ewing Garber, Darryl C. De Vivo

المصدر: Annals of Clinical and Translational Neurology, Vol 8, Iss 5, Pp 1086-1095 (2021)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2328-9503Test

الوصول الحر: https://doaj.org/article/ce74da219fd94e01940be211d46f50a5Test

المؤلفون: Georgia Stimpson, Danielle Ramsey, Amy Wolfe, Anna Mayhew, Mariacristina Scoto, Giovanni Baranello, Robert Muni Lofra, Marion Main, Evelin Milev, Giorgia Coratti, Marika Pane, Valeria Sansone, Adele D’Amico, Enrico Bertini, Sonia Messina, Claudio Bruno, Emilio Albamonte, Elena Stacy Mazzone, Jacqueline Montes, Allan M. Glanzman, Zarazuela Zolkipli-Cunningham, Amy Pasternak, Tina Duong, Sally Dunaway Young, Matthew Civitello, Chiara Marini-Bettolo, John W. Day, Basil T. Darras, Darryl C. De Vivo, Richard S. Finkel, Eugenio Mercuri, Francesco Muntoni

المصدر: Journal of Clinical Medicine, Vol 12, Iss 5, p 1920 (2023)

مصطلحات موضوعية: motor function, natural history, spinal muscular atrophy, Medicine

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2077-0383/12/5/1920Test; https://doaj.org/toc/2077-0383Test

الوصول الحر: https://doaj.org/article/6627d452f8534ca9a909127dd9074e1bTest

المؤلفون: Eugenio Mercuri, Simona Lucibello, Marco Perulli, Giorgia Coratti, Roberto de Sanctis, Maria Carmela Pera, Marika Pane, Jacqueline Montes, Darryl C. de Vivo, Basil T. Darras, Stephen J. Kolb, Richard S. Finkel

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-7 (2020)

مصطلحات موضوعية: Spinal muscular atrophy, Natural history, CHOP INTEND, Medicine

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13023-020-01356-1Test; https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/16a5f223b95a41ae9a03dda5c91d43daTest

المؤلفون: Sylvie Goldman, Aston K. McCullough, Sally Dunaway Young, Carly Mueller, Adrianna Stahl, Audrey Zoeller, Laurel Daniels Abbruzzese, Ashwini K. Rao, Jacqueline Montes

المصدر: Journal of Neurodevelopmental Disorders, Vol 11, Iss 1, Pp 1-5 (2019)

مصطلحات موضوعية: Gait, Motor function, 16p11.2, Children, Neurodevelopment disorder, Autism spectrum disorder, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s11689-019-9286-9Test; https://doaj.org/toc/1866-1947Test; https://doaj.org/toc/1866-1955Test

الوصول الحر: https://doaj.org/article/a89409710b09440abf96689614ef9934Test

المؤلفون: Jean Fitzpatrick Timmerberg, Kristin J Krosschell, Sally Dunaway Young, David Uher, Chris Yun, Jacqueline Montes

المصدر: PLoS ONE, Vol 16, Iss 4, p e0249279 (2021)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/78a96d9acb0941d99d5b7151582019a1Test

المؤلفون: Jacqueline Montes, Michael P McDermott, Elizabeth Mirek, Elena S Mazzone, Marion Main, Allan M Glanzman, Tina Duong, Sally Dunaway Young, Rachel Salazar, Amy Pasternak, Richard Gee, Roberto De Sanctis, Giorgia Coratti, Nicola Forcina, Lavinia Fanelli, Danielle Ramsey, Evelin Milev, Matthew Civitello, Marika Pane, Maria Carmela Pera, Mariacristina Scoto, John W Day, Gihan Tennekoon, Richard S Finkel, Basil T Darras, Francesco Muntoni, Darryl C De Vivo, Eugenio Mercuri

المصدر: PLoS ONE, Vol 13, Iss 6, p e0199657 (2018)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC6019250?pdf=renderTest; https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/63a6b75ede644b2e906a74eef9e3db92Test

المؤلفون: Danielle Ramsey, Mariacristina Scoto, Anna Mayhew, Marion Main, Elena S Mazzone, Jacqueline Montes, Roberto de Sanctis, Sally Dunaway Young, Rachel Salazar, Allan M Glanzman, Amy Pasternak, Janet Quigley, Elizabeth Mirek, Tina Duong, Richard Gee, Matthew Civitello, Gihan Tennekoon, Marika Pane, Maria Carmela Pera, Kate Bushby, John Day, Basil T Darras, Darryl De Vivo, Richard Finkel, Eugenio Mercuri, Francesco Muntoni

المصدر: PLoS ONE, Vol 12, Iss 2, p e0172346 (2017)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC5319655?pdf=renderTest; https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/805f94649a6e43f7a62082820b419d03Test

المؤلفون: Cara H. Kanner, David Uher, Kyle Zreibe, Gabriella Beard, Madison Patterson, Matthew Harris, Jerome Doerger, Sean Calamia, Wendy K. Chung, Jacqueline Montes

مصطلحات موضوعية: Medicine, Sociology, Science Policy, Mental Health, Biological Sciences not elsewhere classified, Outcome measures, Clinical trials, Motor function, Neurodevelopmental disorders, Natural history, Gross motor function measure (GMFM), PPP2R5D

العلاقة: https://figshare.com/articles/journal_contribution/Additional_file_1_of_Validation_of_a_modified_version_of_the_gross_motor_function_measure_in_PPPR5D_related_neurodevelopmental_disorder/25183221Test

الإتاحة: https://doi.org/10.6084/m9.figshare.25183221.v1Test
https://figshare.com/articles/journal_contribution/Additional_file_1_of_Validation_of_a_modified_version_of_the_gross_motor_function_measure_in_PPPR5D_related_neurodevelopmental_disorder/25183221Test

المؤلفون: Ricky Cheng, Julia Feng, Ashley M. Goodwin, David Uher, Ashwini K. Rao, Michael P. McDermott, Darryl C. De Vivo, Carol Ewing Garber, Jacqueline Montes

المصدر: Muscle & Nerve.

مصطلحات موضوعية: Cellular and Molecular Neuroscience, Physiology, Physiology (medical), Neurology (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0aa8d3874aa50bf08247d1d77b8ed449Test
https://doi.org/10.1002/mus.27765Test

المؤلفون: Larry N. Singh, Atif Towheed, Jacqueline Montes, Darryl C. De Vivo, Angela Ho, Christian L. Hietanen, Vasudeva G. Kamath, Kristin Engelstad, Kayla M.D. Cornett

المصدر: Annals of Clinical and Translational Neurology, Vol 8, Iss 11, Pp 2199-2204 (2021)
Annals of Clinical and Translational Neurology

مصطلحات موضوعية: Adult, Male, Mitochondrial Diseases, Chromosomes, Human, Pair 21, Mitochondrial disease, Neurosciences. Biological psychiatry. Neuropsychiatry, Brief Communication, Craniofacial Abnormalities, Exon, Young Adult, Intellectual Disability, medicine, Cytochrome c oxidase, Humans, RC346-429, Exome sequencing, Genetics, Cystinuria, biology, business.industry, General Neuroscience, Siblings, medicine.disease, Hypotonia, Lactic acidosis, Failure to thrive, biology.protein, Muscle Hypotonia, Female, Neurology (clinical), Neurology. Diseases of the nervous system, medicine.symptom, Chromosome Deletion, business, RC321-571

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be964ca96db7056398b093aaba87357aTest
https://doaj.org/article/76ec6d54b97e41acb9c8cb990d4765faTest