Zobrazeno 1 - 10
of 134
pro vyhledávání: '"Pedro Gonzalez-Alegre"'
Autor:
Laynie Dratch, Tanya M. Bardakjian, Kelsey Johnson, Nareen Babaian, Pedro Gonzalez-Alegre, Lauren Elman, Colin Quinn, Michael H. Guo, Steven S. Scherer, Defne A. Amado
Publikováno v:
Biology, Vol 13, Iss 2, p 93 (2024)
Advances in gene-specific therapeutics for patients with neuromuscular disorders (NMDs) have brought increased attention to the importance of genetic diagnosis. Genetic testing practices vary among adult neuromuscular clinics, with multi-gene panel t
Externí odkaz:
https://doaj.org/article/10e85a1fa617400bbfe8c2f15de2799c
Autor:
Li Fang, Alex Mas Monteys, Alexandra Dürr, Megan Keiser, Congsheng Cheng, Akhil Harapanahalli, Pedro Gonzalez-Alegre, Beverly L. Davidson, Kai Wang
Publikováno v:
HGG Advances, Vol 4, Iss 3, Pp 100212- (2023)
Externí odkaz:
https://doaj.org/article/5b6636653ade417b971e1b36bcf3f0fe
Publikováno v:
Genome Biology, Vol 23, Iss 1, Pp 1-27 (2022)
Abstract Despite recent improvements in basecalling accuracy, nanopore sequencing still has higher error rates on short-tandem repeats (STRs). Instead of using basecalled reads, we developed DeepRepeat which converts ionic current signals into red-gr
Externí odkaz:
https://doaj.org/article/cd5ecec98d6b44debd6abf2177f51d0a
Autor:
Brittany H. Scheid, Stephen Aradi, Robert M. Pierson, Steven Baldassano, Inbar Tivon, Brian Litt, Pedro Gonzalez-Alegre
Publikováno v:
Frontiers in Digital Health, Vol 4 (2022)
The Unified Huntington's Disease Rating Scale (UHDRS) is the primary clinical assessment tool for rating motor function in patients with Huntington's disease (HD). However, the UHDRS and similar rating scales (e.g., UPDRS) are both subjective and lim
Externí odkaz:
https://doaj.org/article/b55a39aee21447b694698c862af00efa
Autor:
Kayla Prezelski, Megan Keiser, Joel M. Stein, Timothy H. Lucas, Beverly Davidson, Pedro Gonzalez-Alegre, Flavia Vitale
Publikováno v:
Frontiers in Medical Technology, Vol 3 (2021)
Convection enhanced delivery (CED) allows direct intracranial administration of neuro-therapeutics. Success of CED relies on specific targeting and broad volume distributions (VD). However, to prevent off-target delivery and tissue damage, CED is typ
Externí odkaz:
https://doaj.org/article/3d98c385551b417cae2eea1117424af7
Autor:
Pedro Gonzalez-Alegre
Publikováno v:
Neurobiology of Disease, Vol 127, Iss , Pp 233-241 (2019)
During the last two decades, our knowledge on the genetic bases of Mendelian forms of dystonia has expanded significantly. This has translated into the generation of multiple cell and animal models to explore the neurobiological bases of this hyperki
Externí odkaz:
https://doaj.org/article/a813ed486bb4490fb2f13acfe5607d28
Publikováno v:
Clinical Parkinsonism & Related Disorders, Vol 4, Iss , Pp 100093- (2021)
Externí odkaz:
https://doaj.org/article/732e3a3c083648a49e738c8e0cc46999
Autor:
Noela Rodriguez-Losada, Rune Wendelbob, M. Carmen Ocaña, Amelia Diaz Casares, Roberto Guzman de Villoría, Jose A. Aguirre Gomez, Miguel A. Arraez, Pedro Gonzalez-Alegre, Miguel A. Medina, Ernest Arenas, Jose A. Narvaez
Publikováno v:
Frontiers in Neuroscience, Vol 14 (2020)
Emerging scaffold structures made of carbon nanomaterials, such as graphene oxide (GO) have shown efficient bioconjugation with common biomolecules. Previous studies described that GO promotes the differentiation of neural stem cells and may be usefu
Externí odkaz:
https://doaj.org/article/005ee457450e43ae897bc5aec664086e
Publikováno v:
Clinical Parkinsonism & Related Disorders, Vol 3, Iss , Pp 100041- (2020)
Background: Huntington's disease (HD) causes dysphagia and dementia, both of which are risk factors for malnutrition. Gastrostomy is used to sustain enteral intake in neurodegenerative diseases and specifically improves outcomes in ALS, but its indic
Externí odkaz:
https://doaj.org/article/a5e0771bd1cd4c189219655f070545a4
Autor:
Nathaniel M. Robbins, Jillian R. Ozmore, Thomas L. Winder, Pedro Gonzalez-Alegre, Tanya M. Bardakjian
Publikováno v:
Case Reports in Neurological Medicine, Vol 2020 (2020)
Some causes of spastic paraplegia are treatable and many are not. Diagnostic work-up to determine the etiology can be costly and invasive. Here we report the case of a man with slowly progressive spastic paraparesis. Using a multigene next-generation
Externí odkaz:
https://doaj.org/article/9ee1004b67d44a0fa97d356d195f83fe