Zobrazeno 1 - 10
of 6 036
pro vyhledávání: '"Neurogenetics"'
Autor:
Orlacchio, Antonio1,2 (AUTHOR) a.orlacchio@hsantalucia.it
Publikováno v:
International Journal of Molecular Sciences. Jan2024, Vol. 25 Issue 2, p1061. 3p.
Autor:
Bochyńska, Anna1 abochynska@ipin.edu.pl, Witkowski, Grzegorz1, Gugała-Iwaniuk, Magdalena1, Ryglewicz, Danuta2, Sienkiewicz-Jarosz, Halina1
Publikováno v:
Postepy Psychiatrii i Neurologii / Advances in Psychiatry & Neurology. 2022, Vol. 31 Issue 4, p143-150. 8p.
Autor:
Cortes, Daniel E., Escudero, Mélanie, Korgan, Austin C., Mitra, Arojit, Edwards, Alyssa, Aydin, Selcan C., Munger, Steven C., Charland, Kevin, Zhong-Wei Zhang, O'Connell, Kristen M. S., Reinholdt, Laura G., Pera, Martin F. martin.pera@jax.org
Publikováno v:
Science Advances. 4/5/2024, Vol. 10 Issue 14, p1-23. 23p.
Autor:
Joecelyn Kirani Tan, Wireko Andrew Awuah, Arjun Ahluwalia, Vivek Sanker, Adam Ben-Jaafar, Pearl Ohenewaa Tenkorang, Nicholas Aderinto, Aashna Mehta, Kwadwo Darko, Muhammad Hamza Shah, Sakshi Roy, Toufik Abdul-Rahman, Oday Atallah
Publikováno v:
European Journal of Medical Research, Vol 29, Iss 1, Pp 1-26 (2024)
Abstract Whole-exome sequencing (WES), a ground-breaking technology, has emerged as a linchpin in neurology and neurosurgery, offering a comprehensive elucidation of the genetic landscape of various neurological disorders. This transformative methodo
Externí odkaz:
https://doaj.org/article/b822c7e47e404a57a1797ce72efb8141
Autor:
Judit M. Perez Ortiz, Karthik Muthusamy, W. Oliver Tobin, Ralitza Gavrilova, Margot A. Cousin, Radhika Dhamija
Publikováno v:
Journal of Rare Diseases, Vol 3, Iss 1, Pp 1-5 (2024)
Abstract Introduction LMNB1-related autosomal dominant leukodystrophy (ADLD) is a slowly progressive neurodegenerative disorder caused by overexpression of LMNB1. We retrospectively reviewed charts of all ADLD patients seen at Mayo Clinic. Methods Al
Externí odkaz:
https://doaj.org/article/fee64c72926d496d85722fdda5e4b36d
Autor:
Alexandra Santana Almansa, Stephen M. Chrzanowski, Farrah Rajabi, Megan Day‐Lewis, Pui Y. Lee, Hart G. W. Lidov, Laura L. Lehman, Leslie H. Hayes
Publikováno v:
Annals of the Child Neurology Society, Vol 2, Iss 3, Pp 242-247 (2024)
Abstract Introduction There are overlapping features between inflammatory myopathies and muscular dystrophies, particularly laminopathies. Key features that characterize laminopathies include axial and proximal weakness, contractures, and cardiac abn
Externí odkaz:
https://doaj.org/article/e1200bab55d54343a4ed352058eac594