palindromic encephalopathic - PMC

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Select item 105207571.

Neurologic orphan diseases: Emerging innovations and role for genetic treatments

Ivelina P Kioutchoukova, Devon T Foster, Rajvi N Thakkar, Marco A Foreman, Brandon J Burgess, Rebecca M Toms, Eduardo E Molina Valero, Brandon Lucke-Wold

World J Exp Med. 2023 Sep 20; 13(4): 59–74. Published online 2023 Sep 20. doi: 10.5493/wjem.v13.i4.59

PMCID:: PMC10520757

Abstract Article PDF–2.7M

Select item 99534512.

Mitochondrial Neurodegeneration: Lessons from Drosophila melanogaster Models

Michele Brischigliaro, Erika Fernandez-Vizarra, Carlo Viscomi

Biomolecules. 2023 Feb; 13(2): 378. Published online 2023 Feb 16. doi: 10.3390/biom13020378

PMCID:: PMC9953451

Abstract Article PDF–1.6M

Select item 44055233.

Abstracts from the 38th Annual Meeting of the Society of General Internal Medicine

J Gen Intern Med. 2015 Apr; 30(Suppl 2): 45–551. Published online 2015 Apr 14. doi: 10.1007/s11606-015-3271-0

PMCID:: PMC4405523

Article PDF–21M

Select item 105192064.

A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease

Elisa Calì, Sheng-Jia Lin, Clarissa Rocca, Yavuz Sahin, Aisha Al Shamsi, Salima El Chehadeh, Myriam Chaabouni, Kshitij Mankad, Evangelia Galanaki, Stephanie Efthymiou, Sniya Sudhakar, Alkyoni Athanasiou-Fragkouli, Tamer Çelik, Nejat Narlı, Sebastiano Bianca, David Murphy, Francisco Martins De Carvalho Moreira, SYNaPS Study Group, Andrea Accogli, Cassidy Petree, Kevin Huang, Kamel Monastiri, Masoud Edizadeh, Rosaria Nardello, Marzia Ognibene, Patrizia De Marco, Martino Ruggieri, Federico Zara, Pasquale Striano, Yavuz Şahin, Lihadh Al-Gazali, Marie Therese Abi Warde, Benedicte Gerard, Giovanni Zifarelli, Christian Beetz, Sara Fortuna, Miguel Soler, Enza Maria Valente, Gaurav Varshney, Reza Maroofian, Vincenzo Salpietro, Henry Houlden

Genet Med. 2022 Oct; 24(10): 2194–2203. doi: 10.1016/j.gim.2022.07.013

PMCID:: PMC10519206

Abstract Article PDF–1.3M

Select item 84406355.

A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis

Elke de Boer, Charlotte W. Ockeloen, Leslie Matalonga, Rita Horvath, Solve-RD SNV-indel working group, Richard J. Rodenburg, Marieke J. H. Coenen, Mirian Janssen, Dylan Henssen, Christian Gilissen, Wouter Steyaert, Ida Paramonov, Solve-RD-DITF-ITHACA, Aurélien Trimouille, Tjitske Kleefstra, Alain Verloes, Lisenka E. L. M. Vissers

Eur J Hum Genet. 2021 Sep; 29(9): 1359–1368. Published online 2021 Jun 1. doi: 10.1038/s41431-021-00900-2

Correction in:: Eur J Hum Genet. 2021 Sep; 29(9): 1470–1471.

PMCID:: PMC8440635

Abstract Article PDF–4.1M

Select item 95761776.

Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum

Renzo Guerrini, Valerio Conti, Massimo Mantegazza, Simona Balestrini, Aristea S. Galanopoulou, Fabio Benfenati

Physiol Rev. 2023 Jan 1; 103(1): 433–513. Published online 2022 Aug 11. doi: 10.1152/physrev.00063.2021

PMCID:: PMC9576177

Abstract Article

Select item 88915367.

Early-Life Environment Influence on Late-Onset Alzheimer’s Disease

Thibaut Gauvrit, Hamza Benderradji, Luc Buée, David Blum, Didier Vieau

Front Cell Dev Biol. 2022; 10: 834661. Published online 2022 Feb 17. doi: 10.3389/fcell.2022.834661

PMCID:: PMC8891536

Abstract Article PDF–1.0M

Select item 78434168.

Dirty Fish Versus Squeaky Clean Mice: Dissecting Interspecies Differences Between Animal Models of Interferonopathy

Holly A. Rutherford, Paul R. Kasher, Noémie Hamilton

Front Immunol. 2020; 11: 623650. Published online 2021 Jan 15. doi: 10.3389/fimmu.2020.623650

PMCID:: PMC7843416

Abstract Article PDF–1.5M

Select item 80069509.

Lessons learned 1 year after SARS-CoV-2 emergence leading to COVID-19 pandemic

Kelvin Kai-Wang To, Siddharth Sridhar, Kelvin Hei-Yeung Chiu, Derek Ling-Lung Hung, Xin Li, Ivan Fan-Ngai Hung, Anthony Raymond Tam, Tom Wai-Hin Chung, Jasper Fuk-Woo Chan, Anna Jian-Xia Zhang, Vincent Chi-Chung Cheng, Kwok-Yung Yuen

Emerg Microbes Infect. 2021; 10(1): 507–535. Published online 2021 Mar 22. doi: 10.1080/22221751.2021.1898291

PMCID:: PMC8006950

Abstract Article PDF–2.9M

Select item 619563110.

Towards a therapy for mitochondrial disease: an update

Caterina Garone, Carlo Viscomi

Biochem Soc Trans. 2018 Oct 19; 46(5): 1247–1261. Published online 2018 Oct 9. doi: 10.1042/BST20180134

PMCID:: PMC6195631

Abstract Article PDF–2.0M

Select item 712129011.

Viral Infections of the Central Nervous System

Izelle Smuts, Gregory V. Lamb

Viral Infections in Children, Volume II. 2017 May 5 : 83–123. Published online 2017 May 5. doi: 10.1007/978-3-319-54093-1_4

PMCID:: PMC7121290

Abstract Article PDF–543K

Select item 455003612.

Mitochondrial Disease: Clinical Aspects, Molecular Mechanisms, Translational Science, and Clinical Frontiers

Ben Thornton, Bruce Cohen, William Copeland, Bernard L. Maria

J Child Neurol. Author manuscript; available in PMC 2015 Aug 26.

Published in final edited form as: J Child Neurol. 2014 Sep; 29(9): 1179–1207. Published online 2014 Jun 9. doi: 10.1177/0883073814537379

PMCID:: PMC4550036

Abstract Article PDF–268K

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