Results 41 to 50 of about 2,739,321 (263)

Structural Diversity of Sense and Antisense RNA Hexanucleotide Repeats Associated with ALS and FTLD

Molecules, 2020
The hexanucleotide expansion GGGGCC located in C9orf72 gene represents the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar dementia (FTLD).
Tim Božič, Matja Zalar, Boris Rogelj, Janez Plavec, Primož Šket   +4 more
doaj   +1 more source

C9orf72-mediated ALS and FTD: multiple pathways to disease

Nature Reviews Neurology, 2018
The discovery that repeat expansions in the C9orf72 gene are a frequent cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) has revolutionized our understanding of these diseases.
R. Balendra, A. Isaacs
semanticscholar   +1 more source

AL-KASHF ‘AN AL-ḤAQĀIQ AL-‘ILMIYYAH FĪ AL-QUR’ĀN AL-KARĪM

QOF, 2020
This article aims to reveal the scientific side of the Koran in surah al-Baqarah. There are 5 (five) topics that will be examined in this research, namely the qur'anic scholarship in giving priority to the mention of hearing rather than sight, the qur'anic scholarship in telling mosquitoes, the qur'anic scholarship about the place of sunrise and sunset,
openaire   +2 more sources

Al-Tasybīh al-Tamṡīlī, al-Tasybīh Gair al-Tamṡīlī, al-Tasybīh al-Ḍimnī, dan al-Tasybīh al-Maqlūb

Shaut al Arabiyyah, 2020
Tulisan ini membahas kajian balāgah yaitu ilmu tentang retorika dan stilistika bahasa. Balāgah merupakan salah satu dari sekian banyak disiplin ilmu yang dipergunakan untuk menafsirkan ayat-ayat al-Qur’ān. Ilmu Balāgah mencakup bayān, ma‘ānī, dan badī’ yang satu sama lain saling melengkapi sehingga ketiganya penting untuk dipelajari.
openaire   +2 more sources

Haploinsufficiency Leads to Neurodegeneration in C9ORF72 ALS/FTD Human Induced Motor Neurons

Nature Medicine, 2018
An intronic GGGGCC repeat expansion in C9ORF72 is the most common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), but the pathogenic mechanism of this repeat remains unclear.
Yingxiao Shi, Shaoyu Lin, Kim A. Staats, Yichen Li, Wen-Hsuan Chang, Shu-Ting Hung, Eric Hendricks, Gabriel R Linares, Yaoming Wang, Esther Y. Son, Xinmei Wen, Kassandra Kisler, Brent Wilkinson, Louise Menendez, Tohru Sugawara, Phillip E. Woolwine, Mickey M Huang, Michael J. Cowan, Brandon B Ge, N. Koutsodendris, Kaitlin P Sandor, Jacob Komberg, V. Vangoor, Ketharini Senthilkumar, Valerie Hennes, Carina Seah, Amy R. Nelson, Tze-Yuan Cheng, S. Lee, Paul R. August, Jason A. Chen, N. Wisniewski, V. Hanson-Smith, T. G. Belgard, Alice Zhang, M. Coba, C. Grunseich, Michael E. Ward, L. H. van den Berg, R. J. Pasterkamp, D. Trotti, B. Zlokovic, Justin Ichida   +42 more
semanticscholar   +1 more source

AL TAGHAYYURĀT AL DILĀLIYYAH FÎ AL KALIMĀT AL SUNDĀWIYYAH AL MUQTARIDHAH MIN AL QURĀN AL KARÎM WA AL ISTIFĀDAH MINHĀ FÎ TA’LÎM AL LUGHAH AL ‘ARABIYYAH [PDF]

Al Mi'yar: Jurnal Ilmiah Pembelajaran Bahasa Arab dan Kebahasaaraban, 2020
Islam datang membawa kontribusi besar untuk membangun masyarakat Sunda. Diantaranya, pengayaan kata serapan dari Al quran. hal ini adalah bukti adanya hubungan yang kuat sejak masuknya Islam ke tanah Sunda. Penelitian ini bertujuan untuk mengetahui perubahan-perubahan semantis kata-kata serapan Sunda dari Alquran, dan juga bertujuan mengetahui metode ...
Rudi Irawan, Syihabuddin Syihabuddin, Yayan Nurbayan   +2 more
openaire   +1 more source

Converging mechanisms in ALS and FTD: Disrupted RNA and protein homeostasis

Neuron, 2013
Breakthrough discoveries identifying common genetic causes for amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) have transformed our view of these disorders.
Shuo-Chien Ling, M. Polymenidou, D. Cleveland   +2 more
semanticscholar   +1 more source

Knockout of reactive astrocyte activating factors slows disease progression in an ALS mouse model

Nature Communications, 2020
Reactive astrocytes have been implicated in the pathogenesis of neurodegenerative diseases, including a non-cell autonomous effect on motor neuron survival in ALS.
Kevin A. Guttenplan, Maya K. Weigel, Drew I. Adler, Julien Couthouis, SA Liddelow, A. Gitler, B. Barres   +6 more
semanticscholar   +1 more source

Gene therapy for ALS: A review

Molecular Therapy, 2021
Amyotrophic lateral sclerosis (ALS) has historically posed unique challenges for gene-therapy-based approaches, due to a paucity of therapeutic targets as well as the difficulty of accessing both the brain and spinal cord.
Defne A. Amado, B. Davidson
semanticscholar   +1 more source

A randomized double-blind clinical trial on safety and efficacy of tauroursodeoxycholic acid (TUDCA) as add-on treatment in patients affected by amyotrophic lateral sclerosis (ALS): the statistical analysis plan of TUDCA-ALS trial [PDF]

, 2023
Background: Amyotrophic lateral sclerosis (ALS) is a highly debilitating neurodegenerative condition. Despite recent advancements in understanding the molecular mechanisms underlying ALS, there have been no significant improvements in therapeutic options
Puopolo, Maria, Lo Giudice, Maria, Van Damme, Philip, Alegiani, Stefania Spila, Corcia, Philippe, Mayer, Flavia, Ludolph, Albert Christian, McDermott, Christopher J., TUDCA-ALS Study Group, Albanese, Alberto, Cipriani, Marta, Dickie, Brian, Van den Berg, Leonard H., Nicolini, Gabriele, Lombardo, Flavia L., Vanacore, Nicola, Hardiman, Orla   +16 more
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