Results 221 to 230 of about 306,770 (339)

Quality of life over time after new onset refractory status epilepticus

Epilepsia, EarlyView.
Abstract Objective This study aims to better characterize the long‐term neurological quality of life (QOL) outcomes (using the Neuro‐QOL scale) in survivors of new onset refractory status epilepticus (NORSE), including its subtype febrile infection‐related epilepsy syndrome (FIRES), and provide guidance for psychological and social support strategies ...
Matthew D. Gruen, Margaret T. Gopaul, Anthony D. Jimenez, Ayush Batra, Leah J. Blank, Charlotte Damien, Gregory S. Day, Krista Eschbach, Elizabeth E. Gerard, Teneille E. Gofton, Stephen T. Hantus, Nathalie Jette, Amy Jongeling, Peter Kang, Karnig Kazazian, Marissa Kellogg, Minjee Kim, Bahar Madani, Mikaela Morales, Vineet Punia, Claude Steriade, Aaron Struck, Olga Taraschenko, Nathan Torcida, Mark S. Wainwright, Ji Yeoun Yoo, Nicolas Gaspard, Nora Wong, Lawrence J. Hirsch, Aurélie Hanin   +29 more
wiley   +1 more source

Navigating gastrointestinal challenges in genetic myopathies: Diagnostic insights and future directions. [PDF]

World J Methodol
Al-Beltagi M, Saeed N, Bediwy A, Elbeltagi R.   +3 more
europepmc   +1 more source

SHWACHMAN–DIAMOND SYNDROME ASSOCIATED WITH ROD-CONE DYSTROPHY

Jingwen Zhang, Thales A. C. de Guimarães, Dorothy Thompson, Michel Michaelides   +3 more
openalex   +2 more sources

Expression Profiling in the Muscular Dystrophies [PDF]

, 2000
Yiwen Chen, Po Zhao, Rehannah Borup, Eric P. Hoffman   +3 more
openalex   +1 more source

Plant organelle C‐to‐U RNA editing factors can operate successfully in yeast (Saccharomyces cerevisiae) as an easily amenable eukaryotic system for their functional analysis

The FEBS Journal, EarlyView.
Plant‐type pentatricopeptide repeat proteins capable of C‐to‐U RNA editing perform faithfully when expressed in a new heterologous system, the yeast Saccharomyces cerevisiae. They were tested with constitutive and inducible expression and with a set of different solubility tags. PPR56, PPR65, and PPR78 from P.
Shyam Ramanathan, Annika Hanraths, Jingchan Xie, Mareike Schallenberg‐Rüdinger, Volker Knoop   +4 more
wiley   +1 more source

P643: Unveiling noncoding DMD variants: Synergizing RNA sequencing and DNA sequencing for enhanced molecular diagnosis

Genetics in Medicine Open
Yinghong Pan, Fen Guo, Zeqiang Ma, Babi Ramesh Reddy Nallamilli, Ruby Liu, Kayla Quirin, Ann Martin, Madhuri Hegde   +7 more
doaj   +1 more source

Case Report: Post-LASIK exacerbation of granular corneal dystrophy type 2: a familial case with <i>TGFBI</i> mutation. [PDF]

Front Med (Lausanne)
Kuang L, Zhang X, Wang Y, Zhan Q, Su J, Lin B, Guo P.   +6 more
europepmc   +1 more source

The analysis of the course of motor impairment in fukuyama type congenital muscular dystrophy.

, 1985
Yayoi Okawa, Satoshi Ueda, Fumio Eto, Nobuko Kikuchi   +3 more
openalex   +2 more sources

Regulation of PHOX2B gene expression by the long non‐coding natural antisense RNA PHOX2B‐AS1

The FEBS Journal, EarlyView.
PHOX2B is a transcription factor essential for autonomic nervous system development. We identify and characterize PHOX2B‐AS1, a human long non‐coding antisense transcript at the PHOX2B locus, along with its murine counterpart. Our findings reveal bidirectional transcription and reciprocal regulation: PHOX2B activates PHOX2B‐AS1, whereas PHOX2B‐AS1 ...
Simona Di Lascio, Ana Lucia Cuadros Gamboa, Martina Bertocchi, Filippo Chiesa, Francesca Cargnin, Ettore Mosca, Paride Pelucchi, Viviana Tritto, Stefania Corti, Isabella Ceccherini, Paola Riva, Roberta Benfante, Diego Fornasari   +12 more
wiley   +1 more source

Bilateral Nail Dystrophy of the Fourth Digits: A Quiz. [PDF]

Acta Derm Venereol
Karataş H, Kaya E, Gönül M, Kartal SP.   +3 more
europepmc   +1 more source