Results 181 to 190 of about 8,328,477 (294)

Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan, Jordan Safran, Anna Loughman, Grace Lin, Shivanshi Vaid, Dana Allababidi, Peter M. Tessier, Louis T. Dang   +7 more
wiley   +1 more source

Simulation for long read sequencers

, 2022
openaire   +1 more source

Protocol for Designing and Interpreting Minigene Assays to Validate Candidate Splice-Altering Variants Using Long-read Sequencing. [PDF]

Curr Protoc
Whitford W, Musgrave SM, Snell RG, Jacobsen JC.   +3 more
europepmc   +1 more source

Posterior Disconnection Syndrome in Early‐Stage Adult‐Onset Cerebral Adrenoleukodystrophy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adult‐onset cerebral adrenoleukodystrophy is potentially treatable but often difficult to recognize before advanced cerebral involvement. Herein, we describe three men with early‐stage disease who initially presented with subtle visual complaints rather than subcortical dementia. Targeted neuropsychological testing revealed higher‐order visual
Kazuto Katsuse, Takashi Matsukawa, Yumiko Nakamura, Kazuo Kakinuma, Shoko Ota, Ryo Hara, Saki Nakashima, Kaoru Ito, Yutaro Nakamori, Toshiyuki Kakumoto, Masashi Hamada, Shigenori Kanno, Kyoko Suzuki, Tatsushi Toda   +13 more
wiley   +1 more source

Untangling the Copy Number Variation at the Basis of Belted Phenotypes in Cattle Using Long-Read Sequencing. [PDF]

Anim Genet
Hogers RAH, Bosse M, Rattink AP, González-Prendes R, Gòdia M, Laport K, Groenen MAM, Crooijmans RPMA, Bouwman AC.   +8 more
europepmc   +1 more source

Nationwide Survey of Association Between Fever and Epileptic Seizure in CDKL5 Deficiency Disorder Revealed Therapeutic Implications

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective CDKL5 deficiency disorder (CDD) is a rare, severe developmental and epileptic encephalopathy. There is a pressing need to develop effective and sustainable therapeutic strategies. We aimed to investigate the causal association between febrile episodes and epileptic seizures for therapeutic implications in CDD patients.
Siyi Wang, Jialin Du, Jinghui Liu, Dongmei Hu, Hongxin Wang, Xiaoxiao Man, Lehong Gao, Shimin Hu, Xianghong Meng, Hongyang Zhao, Minjing Hu, Yingxue Yang, Zhiqi Xiong, Liankun Ren   +13 more
wiley   +1 more source

ReadChop: a high-performance demultiplexer for long-read sequencing data. [PDF]

Bioinformatics
Jiang C, Xiong Y.
europepmc   +1 more source

Subjective Cognitive Concerns and Cognitive Trajectories in Parkinson's Disease: Biomarker Impact

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To examine the relationship of subjective cognitive concerns (SCC) with biomarkers of Alzheimer's disease (AD), neurodegeneration, and Parkinson's disease (PD) and domain‐specific cognitive trajectories among cognitively unimpaired persons with de novo PD. Method Cognitively unimpaired participants with SCC (n = 294) and without SCC (
Francesca V. Lopez, Fareshte Erani, Katherine J. Bangen, David G. Coughlin, Douglas Galasko, Kelsey R. Thomas   +5 more
wiley   +1 more source

Long-read sequencing identifies FGF14 repeat expansions in Parkinson's disease. [PDF]

Brain
Akçimen F, Daida K, Lange LM, Moller A, Miano-Burkhardt A, Malik L, Paquette K, Alvarez Jerez P, Mingle J, Baker B, Meredith M, Kouam C, Jarreau P, Markham A, Anderson J, Jain M, Chaisson M, Cookson M, Casey B, Iwaki H, Bandres-Ciga S, Saffie-Awad P, Nalls MA, Fang ZH, Singleton AB, Blauwendraat C, Billingsley KJ.   +26 more
europepmc   +1 more source

Ofatumumab Therapy and Long‐Term Seizure Outcomes of Patients With Relapsing Anti‐NMDA Receptor Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective There is a lack of studies on seizure outcomes associated with ofatumumab therapy in patients for relapsing anti‐N‐methyl‐D‐aspartate (NMDA) receptor encephalitis. We aimed to evaluate long‐term seizure outcomes of ofatumumab therapy for relapsing anti‐NMDA receptor encephalitis.
Jian Wang, Mengjiao Li, Ping Kong
wiley   +1 more source