المؤلفون: Bhaskar Roy, Allison Peck, Teresinha Evangelista, Gerald Pfeffer, Leo Wang, Jordi Diaz‐Manera, Manisha Korb, Matthew P. Wicklund, Margherita Milone, Miriam Freimer, Hani Kushlaf, Rocio‐Nur Villar‐Quiles, Tanya Stojkovic, Merrilee Needham, Johanna Palmio, Thomas E. Lloyd, Benison Keung, Tahseen Mozaffar, Conrad Chris Weihl, Virginia Kimonis

المصدر: Annals of Clinical and Translational Neurology, Vol 10, Iss 5, Pp 686-695 (2023)

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

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2328-9503

URL الوصول: https://doaj.org/article/a319ff4d3dcf4e0d84c1086d8301b2c9

المؤلفون: Niharika Kashyap, Anish Nikhanj, Dina Labib, Easter Prosia, Sandra Rivest, Jacqueline Flewitt, Gerald Pfeffer, Jeffrey A. Bakal, Zaeem A. Siddiqi, Richard A. Coulden, Richard Thompson, James A. White, Gavin Y. Oudit

المصدر: Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 12, Iss 21 (2023)

مصطلحات موضوعية: cardiovascular magnetic resonance, major adverse cardiac events, muscular dystrophy, prognosis, Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2047-9980

URL الوصول: https://doaj.org/article/e679954337e942ff919061192669941d

المؤلفون: Manisha Korb, Allison Peck, Lindsay N. Alfano, Kenneth I. Berger, Meredith K. James, Nupur Ghoshal, Elise Healzer, Claire Henchcliffe, Shaida Khan, Pradeep P. A. Mammen, Sujata Patel, Gerald Pfeffer, Stuart H. Ralston, Bhaskar Roy, William W. Seeley, Andrea Swenson, Tahseen Mozaffar, Conrad Weihl, Virginia Kimonis, the VCP Standards of Care Working Group

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-15 (2022)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/bf65cfbc490c497cb1d7639887c6cbbe

المؤلفون: Sarah M. Orton, Amarpreet Sangha, Mehul Gupta, Kristina Martens, Luanne M. Metz, A. P. J. de Koning, Gerald Pfeffer

المصدر: Frontiers in Neurology, Vol 13 (2022)

مصطلحات موضوعية: multiple sclerosis, vitamin D deficiency, super-enhancers, vitamin D receptor (VDR), vitamin D, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2022.1064008/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/43770c769a174fb0b2b1d65ed810dbc3

المؤلفون: Hema Saranya Ilamathi, Mathieu Ouellet, Rasha Sabouny, Justine Desrochers-Goyette, Matthew A. Lines, Gerald Pfeffer, Timothy E. Shutt, Marc Germain

المصدر: Scientific Reports, Vol 11, Iss 1, Pp 1-14 (2021)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/0eca7eaf2ac94324bd6e7a0fe98724dc

المؤلفون: Beatriz Carvalho Henriques, Avery Buchner, Xiuying Hu, Yabing Wang, Vasyl Yavorskyy, Keanna Wallace, Rachael Dong, Kristina Martens, Michael S. Carr, Bahareh Behroozi Asl, Joshua Hague, Sudhakar Sivapalan, Wolfgang Maier, Mojca Z. Dernovsek, Neven Henigsberg, Joanna Hauser, Daniel Souery, Annamaria Cattaneo, Ole Mors, Marcella Rietschel, Gerald Pfeffer, Stacey Hume, Katherine J. Aitchison

المصدر: Translational Psychiatry, Vol 11, Iss 1, Pp 1-9 (2021)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2158-3188

URL الوصول: https://doaj.org/article/16d854a36fa943aab4f32e69d4f3a396

المؤلفون: Davide Martino, Kristina Martens, Matthew Joel, Rasha Sabouny, Mashiat Zaman, Timothy E. Shutt, Gerald Pfeffer, A.P. Jason de Koning, Govinda Sharma

المصدر: F1000Research, Vol 10 (2022)

مصطلحات موضوعية: Mitochondria, MFN2, Mitochondrial Fusion, Ataxia, eng, Medicine, Science

وصف الملف: electronic resource

Relation: https://f1000research.com/articles/10-606/v2; https://doaj.org/toc/2046-1402

URL الوصول: https://doaj.org/article/3e32624fbeac4668a777c63592bc7744

المؤلفون: Mehrafarin Ramezani, Pauline Mouches, Eunjin Yoon, Deepthi Rajashekar, Jennifer A. Ruskey, Etienne Leveille, Kristina Martens, Mekale Kibreab, Tracy Hammer, Iris Kathol, Nadia Maarouf, Justyna Sarna, Davide Martino, Gerald Pfeffer, Ziv Gan-Or, Nils D. Forkert, Oury Monchi

المصدر: Scientific Reports, Vol 11, Iss 1, Pp 1-10 (2021)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/204558a8b15c462ebcd859ce0e968136

المؤلفون: Sarah Jacob, Ronak Kapadia, Tyler Soule, Honglin Luo, Kerri L. Schellenberg, Renée N. Douville, Gerald Pfeffer

المصدر: Frontiers in Neurology, Vol 13 (2022)

مصطلحات موضوعية: COVID-19, SARS-CoV-2, neuromuscular disease (NMD), Guillain-Barre syndrome, viral disease, autoimmune disease, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2022.914411/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/c02ed316082b49928e4a6268fd408696

المؤلفون: Tatiana Maroilley, Nicola A. M. Wright, Catherine Diao, Linda MacLaren, Gerald Pfeffer, Justyna R. Sarna, Ping Yee Billie Au, Maja Tarailo-Graovac

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: ATM, deep intronic variant, synonymous variant, whole-genome sequencing, splicing, missing heritability, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.815210/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/0da7af0c6dbb48f197c965836205d610

المؤلفون: Walaa Almutawa, Christopher Smith, Rasha Sabouny, Ryan B. Smit, Tian Zhao, Rachel Wong, Laurie Lee-Glover, Justine Desrochers-Goyette, Hema Saranya Ilamathi, Oksana Suchowersky, Marc Germain, Paul E. Mains, Jillian S. Parboosingh, Gerald Pfeffer, A. Micheil Innes, Timothy E. Shutt

المصدر: EBioMedicine, Vol 45, Iss , Pp 379-392 (2019)

مصطلحات موضوعية: Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352396419303998; https://doaj.org/toc/2352-3964

URL الوصول: https://doaj.org/article/1419440341e14615abfb0148b8088d98

المؤلفون: Kristina Martens, Jamie Leckie, Daniel Fok, Robyn A. Wells, Sameer Chhibber, Gerald Pfeffer

المصدر: Frontiers in Neurology, Vol 11 (2021)

مصطلحات موضوعية: myopathy, calpain 3, LGMD2A, late onset, transdifferentiation, bone marrow transplantation, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2020.604547/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/54ab76d33294456284693c295c345abf

المؤلفون: Mehrafarin Ramezani, Jennifer A. Ruskey, Kristina Martens, Mekale Kibreab, Zainul Javer, Iris Kathol, Tracy Hammer, Jenelle Cheetham, Etienne Leveille, Davide Martino, Justyna R. Sarna, Ziv Gan-Or, Gerald Pfeffer, Zahinoor Ismail, Oury Monchi

المصدر: Frontiers in Neurology, Vol 11 (2021)

مصطلحات موضوعية: BDNF, Parkinson's disease, mild behavioral impairment, neuropsychiatric symptoms, depression, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2020.587992/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/32ebafd918184b15aa667ccc0154a6e7

المؤلفون: Gerald Pfeffer

المصدر: McGill Journal of Medicine, Vol 7, Iss 1 (2020)

مصطلحات موضوعية: medicine, nonlocal, reinventing, Medicine

وصف الملف: electronic resource

Relation: https://mjm.mcgill.ca/article/view/632; https://doaj.org/toc/1715-8125

URL الوصول: https://doaj.org/article/965cd46832cc4e7da84c866daea6817d

المؤلفون: Beatriz Carvalho Henriques, Avery Buchner, Xiuying Hu, Yabing Wang, Vasyl Yavorskyy, Keanna Wallace, Rachael Dong, Kristina Martens, Michael S. Carr, Bahareh Behroozi Asl, Joshua Hague, Sudhakar Sivapalan, Wolfgang Maier, Mojca Z. Dernovsek, Neven Henigsberg, Joanna Hauser, Daniel Souery, Annamaria Cattaneo, Ole Mors, Marcella Rietschel, Gerald Pfeffer, Stacey Hume, Katherine J. Aitchison

المصدر: Translational Psychiatry, Vol 12, Iss 1, Pp 1-1 (2022)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2158-3188

URL الوصول: https://doaj.org/article/a556860718d54d89b0437b184050708a

المؤلفون: Mehul Gupta, Ana Nikolic, Denise Ng, Kristina Martens, Hamid Ebadi, Sameer Chhibber, Gerald Pfeffer

المصدر: Frontiers in Neurology, Vol 10 (2019)

مصطلحات موضوعية: colchicine, statin, myopathy, vacuolar, muscle MRI, pharmacogenetics, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fneur.2019.00553/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/350745e3cea74ca9a23311ecdeb2a099

المؤلفون: Govinda Sharma, Gerald Pfeffer, Timothy E. Shutt

المصدر: Biology, Vol 10, Iss 4, p 268 (2021)

مصطلحات موضوعية: neuropathy, mitochondria, mitochondrial dynamics, fusion, fission, transport, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2079-7737/10/4/268; https://doaj.org/toc/2079-7737

URL الوصول: https://doaj.org/article/61dab7cef0c2455d8cc947a24fab8e9e

المؤلفون: Tyler Soule, Cecile Phan, Chris White, Lothar Resch, Atilano Lacson, Kristina Martens, Gerald Pfeffer

المصدر: Frontiers in Neurology, Vol 9 (2018)

مصطلحات موضوعية: hereditary inclusion body myopathy, distal myopathy, GNE, genetics, muscle MRI, muscle pathology, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fneur.2018.00942/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/28947d3eab2d4ce9b927a2efa8f1a8df

المؤلفون: Zhiyv Niu, Carly Sabine Pontifex, Sarah Berini, Leslie E. Hamilton, Elie Naddaf, Eric Wieben, Ross A. Aleff, Kristina Martens, Angela Gruber, Andrew G. Engel, Gerald Pfeffer, Margherita Milone

المصدر: Frontiers in Neurology, Vol 9 (2018)

مصطلحات موضوعية: distal myopathy, myofibrillar myopathy, respiratory insufficiency, rimmed vacuoles, SQSTM1, TIA1, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://journal.frontiersin.org/article/10.3389/fneur.2018.00147/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/b52b8d2eeaf5408ca25991522ea4a062

المؤلفون: Carly S. Pontifex, Mashiat Zaman, Roberto D. Fanganiello, Timothy E. Shutt, Gerald Pfeffer

المصدر: International Journal of Molecular Sciences, Vol 25, Iss 11, p 5633 (2024)

مصطلحات موضوعية: valosin-containing protein, multisystem proteinopathy, genetic diagnosis, genotype–phenotype correlation, autophagy, mitophagy, Biology (General), QH301-705.5, Chemistry, QD1-999

Relation: https://www.mdpi.com/1422-0067/25/11/5633; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067; https://doaj.org/article/3eb6cae2cafa4bb8af5a029e7e28ace8

الاتاحة: https://doi.org/10.3390/ijms25115633
https://doaj.org/article/3eb6cae2cafa4bb8af5a029e7e28ace8