Results 41 to 50 of about 288,034 (253)

NKCC1, an Elusive Molecular Target in Brain Development: Making Sense of the Existing Data [PDF]

, 2020
Peer ...
Virtanen, Mari A., Christian A. Hübner, Uvarov, Pavel, Kaila, Kai, Hubner, Christian A., Pavel Uvarov, Kai Kaila, Virtanen, Mari A, Mari A. Virtanen   +8 more
core   +1 more source

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

Baseline Regional Cholinergic Denervation Predicts Cognitive Trajectories in Moderate Parkinson Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cognitive decline is a disabling and variable feature of Parkinson disease (PD). While cholinergic system degeneration is linked to cognitive impairments in PD, most prior research reported cross‐sectional associations. We aimed to fill this gap by investigating whether baseline regional cerebral vesicular acetylcholine transporter ...
Taylor Brown, Giulia Carli, Prabesh Kanel, Stiven Roytman, Jaimie Barr, Nicolaas I. Bohnen, Roger L. Albin   +6 more
wiley   +1 more source

Changes in molecular composition of rat medial prefrontal cortex synapses during adolescent development

, 2010
Postnatal brain development continues throughout adolescence into young adulthood. In particular, synapse strengthening and elimination are prominent processes during adolescence.
van der Schors, R.C., Roel C. Van Der Schors, Wortel, J., Smit, A.B., Ka Wan Li, August B. Smit, Li, K.W., Sabine Spijker, Spijker, S., Li, K.W.; id_orcid, Gouwenberg, Y., Joke Wortel, Counotte, D.S., Danielle S. Counotte, Yvonne Gouwenberg, Schors, R.C. van der   +15 more
core   +1 more source

Normal Molecular Specification and Neurodegenerative Disease-Like Death of Spinal Neurons Lacking the SNARE-Associated Synaptic Protein Munc18-1. [PDF]

, 2016
The role of synaptic activity during early formation of neural circuits is a topic of some debate; genetic ablation of neurotransmitter release by deletion of the Munc18-1 gene provides an excellent model to answer the question of whether such activity ...
Law, C., Schaan Profes, M., Kania, Artur, Kaltschmidt, J.A., Profes, Marcos Schaan, Verhage, Matthijs, Law, Chris, Kania, A., Levesque, M., Kaltschmidt, Julia A., Verhage, M., Levesque, Martin   +11 more
core   +1 more source

A Prospective Study of Individuals at Risk of Multiple Sclerosis Informs the Design of Primary Prevention Studies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective In multiple sclerosis, the optimal time for deploying a therapeutic intervention is before the central nervous system is damaged; given the success of trials treating the earliest stage of MS, the radiologically isolated syndrome, developing primary prevention strategies is an important next challenge.
Amy W. Laitinen, Ceren Tozlu, Tina Roostaei, Fatoumata Diallo, Kaho Onomichi, Jiyeon Son, Zongqi Xia, Philip L. De Jager   +7 more
wiley   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Functional Genomics of Axons and Synapses to Understand Neurodegenerative Diseases

, 2021
Functional genomics studies through transcriptomics, translatomics and proteomics have become increasingly important tools to understand the molecular basis of biological systems in the last decade. In most cases, when these approaches are applied to the
Sotelo-Silveira, José Roberto, Farias, Joaquina, Garat, Joaquin, Smircich, Pablo, Di Paolo, Andres, Eastman, Guillermo, Dajas-Bailador, Federico   +6 more
core   +1 more source

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Journal of Neuroscience

The nervous system contains complex circuits comprising thousands of cell types and trillions of connections. Here, we discuss how the field of "developmental systems neuroscience" combines the molecular and genetic perspectives of developmental ...
Dooley, James C., van der Heijden, Meike E.   +1 more
core   +1 more source