Results 141 to 150 of about 100,070 (325)

TARDBP (TDP‐43) Knock‐in Zebrafish Display a Late‐Onset Motor Phenotype and Loss of Large Spinal Cord Motor Neurons

Annals of Neurology, EarlyView.
Objective Mutations in TARDBP (encoding TDP‐43) are associated with the neurodegenerative disease amyotrophic lateral sclerosis (ALS) and include familial missense mutations where there are a lack of models and mechanisms examining how they are pathogenic.
Ziyaan A. Harji, Christian J. Rampal, Esteban C. Rodríguez, Virginie Petel Légaré, Alexandra Lissouba, Sabrina Semmler, Meijiang Liao, Jay P. Ross, Guy A. Rouleau, Christine Vande Velde, Gary A.B. Armstrong   +10 more
wiley   +1 more source

A Novel Acetylcholine Nanosensor for Single Vesicle Storage and Sub‐Quantal Exocytosis in Living Neurons and Organoids

Angewandte Chemie, EarlyView.
Schematic representation of M@E@CF nanosensors for detecting vesicular storage and release in cholinergic neurons and brain organoids. (A) Nano‐tip microelectrodes modification via molds fabricated through 3D printing. (B) the reaction mechanism for acetylcholine detection at the electrode interface.
Wanying Zhu, Yufan Zhang, Hanwen Yu, Da Wang, Xinyue Zhang, Xiaowen Du, Shanshan Wu, Bingzhi Li, Yizhou Zhang, Hongliang Xin, Xing Guo, Yan Liu   +11 more
wiley   +2 more sources

Co‐Opting MBNL‐Dependent Alternative Splicing Cassette Exons to Control Gene Therapy in Myotonic Dystrophy

Annals of Neurology, EarlyView.
Objective Myotonic dystrophy type 1 (DM1) is a highly variable, multisystemic genetic disorder caused by a CTG repeat expansion in the 3′ untranslated region of DMPK. Toxicity is exerted by repeat‐containing DMPK transcripts that sequester muscleblind‐like (MBNL) proteins and lead to deleterious yet predictable changes in alternative splicing.
Samuel T. Carrell, Ellie M. Carrell, Ryan Giovenco, Beverly L. Davidson   +3 more
wiley   +1 more source

Calcium channels coupled to neurotransmitter release at neonatal rat neuromuscular junctions

, 1999
Marcelo D. Rosato Siri, Osvaldo D. Uchitel   +1 more
openalex   +1 more source

Neuroligin 4 regulates synaptic growth via the bone morphogenetic protein (BMP) signaling pathway at the Drosophila neuromuscular junction [PDF]

, 2017
Xinwang Zhang, Menglong Rui, Guangmin Gan, Cong Huang, Jukang Yi, Huihui Lv, Wei Xie   +6 more
openalex   +1 more source

Resilience to Endoplasmic Reticulum Stress Mitigates Membrane Hyperexcitability Underlying Late Disease Onset in a Murine Model of SCA6

Annals of Neurology, EarlyView.
Objective An enduring puzzle in many inherited neurological disorders is the late onset of symptoms despite expression of function‐impairing mutant protein early in life. We examined the basis for onset of impairment in spinocerebellar ataxia type 6 (SCA6), a canonical late‐onset neurodegenerative ataxia which results from a polyglutamine expansion in ...
Haoran Huang, Taylor L. Charron, Min Fu, Miranda Dunn, Deborah M. Jones, Praveen Kumar, Satoshi Ishishita, Allan‐Hermann Pool, Ashwinikumar Kulkarni, Genevieve Konopka, Vikram G. Shakkottai   +10 more
wiley   +1 more source

Establishment and application of clinical biobanks in treating neuromuscular diseases

Chinese Journal of Contemporary Neurology and Neurosurgery, 2016
Neuromuscular diseases refer to a group of diseases mainly involving peripheral nerve, neuromuscular junction (NMJ) and muscle. Except for the traditional clinical diagnosis, such as serological tests, neuroelectrophysiological study and pathological ...
Ya-wen ZHAO, Qiu-rong ZHANG, Wei ZHANG
doaj  

Akt regulates glutamate receptor trafficking and postsynaptic membrane elaboration at the Drosophila neuromuscular junction [PDF]

, 2013
Hyun‐Gwan Lee, Na Zhao, Bridget Kelly Campion, Michelle M. Nguyen, Scott B. Selleck   +4 more
openalex   +1 more source

Anatomical Associations Between Focal Mitochondrial Metabolism and Patterns of Neurodegeneration in Amyotrophic Lateral Sclerosis

Annals of Neurology, EarlyView.
Objective Amyotrophic lateral sclerosis (ALS) has a very specific neuroimaging signature, but the molecular underpinnings of the strikingly selective anatomic involvement have not elucidated to date. Accordingly, a large neuroimaging study was conducted with 258 participants to evaluate associations between patterns of neurodegeneration and focal ...
Marlene Tahedl, We Fong Siah, Efstratios Karavasilis, Jennifer C. Hengeveld, Mark A. Doherty, Russell L. McLaughlin, Orla Hardiman, Ee Ling Tan, Foteini Christidi, Jana Kleinerova, Peter Bede   +10 more
wiley   +1 more source

Effect of β2-adrenergic receptor agonists on neurotransmission and neuromuscular junction structure in congenital myasthenic syndromes

, 2018
An Vanhaesebrouck
openalex   +1 more source