Zobrazeno 1 - 10
of 6 052
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