4.7 Article

Cortical neuronal hyperexcitability and synaptic changes in SGCE mutation-positive myoclonus dystonia

Related references

Note: Only part of the references are listed.
Review Neurosciences

Modulation of NMDA Receptors by G-protein-coupled receptors: Role in Synaptic Transmission, Plasticity and Beyond

Stefano Lutzu et al.

Summary: NMDA receptors play a critical role in synaptic transmission, plasticity, learning, and memory, and are regulated by G-protein coupled receptors which can modulate their expression and function in various synapses throughout the central nervous system. This modulation may have implications for synaptic plasticity, circuit function, and brain diseases.

NEUROSCIENCE (2021)

Review Neurosciences

Cortical neurophysiology of primary isolated dystonia and non-dystonic adults: A meta-analysis

Alana B. McCambridge et al.

Summary: This study provides a synthesized understanding of cortical neurophysiology associated with isolated dystonia through meta-analysis of TMS measures. The results indicate a reduction in cortical silent period, short-interval intracortical inhibition, and afferent-induced inhibition in isolated dystonia compared to controls, suggesting potential new treatment targets for this poorly understood movement disorder.

EUROPEAN JOURNAL OF NEUROSCIENCE (2021)

Article Clinical Neurology

Brain Structural Changes in Focal Dystonia-What About Task Specificity? A MultimodalMRIStudy

Aleksandra Tomic et al.

Summary: This study found significant differences in brain structures between patients with task-specific dystonia and non-task-specific dystonia, suggesting the presence of different pathophysiological mechanisms underlying the two clinical phenotypes.

MOVEMENT DISORDERS (2021)

Article Neurosciences

An Autism-Associated Mutation Impairs Neuroligin-4 Glycosylation and Enhances Excitatory Synaptic Transmission in Human Neurons

Thomas P. Cast et al.

Summary: The amino acid substitution mutation (R101Q) in the NLGN4 gene impairs the maturation and surface trafficking of NLGN4 protein, leading to reduced synaptic localization and functional impact on neurons.

JOURNAL OF NEUROSCIENCE (2021)

Article Clinical Neurology

Quality of life in isolated dystonia: non-motor manifestations matter

Johanna Junker et al.

Summary: The study evaluated the relationship between health-related quality of life and physical and psychiatric factors in patients with isolated dystonia. Results showed that reduced HR-QoL was strongly associated with depressive symptoms, anxiety, and dystonia severity, while younger age was linked to decreased emotional well-being and vitality. Treatment of isolated dystonia should address both physical and mental aspects of health, not just motor symptoms.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2021)

Letter Clinical Neurology

Movement Disorder Phenotypes in Children With 22q11.2 Deletion Syndrome

Adam C. Cunningham et al.

MOVEMENT DISORDERS (2020)

Article Genetics & Heredity

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

Kathleen M. Gorman et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2019)

Article Clinical Neurology

Network localization of cervical dystonia based on causal brain lesions

Daniel T. Corp et al.

BRAIN (2019)

Article Neurosciences

Neuroligin-4 Regulates Excitatory Synaptic Transmission in Human Neurons

Samuele G. Marro et al.

NEURON (2019)

Review Neurosciences

Dystonia genes and their biological pathways

H. A. Jinnah et al.

NEUROBIOLOGY OF DISEASE (2019)

Review Endocrinology & Metabolism

Postsynaptic movement disorders: clinical phenotypes, genotypes, and disease mechanisms

Lucia Abela et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2018)

Article Clinical Neurology

Reappraising the role of motor surround inhibition in dystonia

Panagiotis Kassavetis et al.

JOURNAL OF THE NEUROLOGICAL SCIENCES (2018)

Review Clinical Neurology

Potassium Channel Gain of Function in Epilepsy: An Unresolved Paradox

Zachary Niday et al.

NEUROSCIENTIST (2018)

Article Physiology

Kv7 channels are upregulated during striatal neuron development and promote maturation of human iPSC-derived neurons

Vsevolod Telezhkin et al.

PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY (2018)

Article Medicine, General & Internal

Dystonia

Bettina Balint et al.

NATURE REVIEWS DISEASE PRIMERS (2018)

Article Biology

Large and fast human pyramidal neurons associate with intelligence

Natalia A. Goriounova et al.

ELIFE (2018)

Article Clinical Neurology

Clinical characterization of dystonia in adult patients with Huntington's disease

N. A. van de Zande et al.

EUROPEAN JOURNAL OF NEUROLOGY (2017)

Review Neurosciences

Spine Dynamics: Are They All the Same?

Kalen P. Berry et al.

NEURON (2017)

Article Biochemistry & Molecular Biology

Predicting the functional states of human iPSC-derived neurons with single-cell RNA-seq and electrophysiology

C. Bardy et al.

MOLECULAR PSYCHIATRY (2016)

Article Neurosciences

Neuron Morphology Influences Axon Initial Segment Plasticity

Allan T. Gulledge et al.

ENEURO (2016)

Article Genetics & Heredity

A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia

Niccolo E. Mencacci et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2015)

Article Biochemical Research Methods

Automated quantification of neuronal networks and single-cell calcium dynamics using calcium imaging

Tapan P. Patel et al.

JOURNAL OF NEUROSCIENCE METHODS (2015)

Review Clinical Neurology

Non-motor symptoms in genetically defined dystonia: Homogenous groups require systematic assessment

K. J. Peall et al.

PARKINSONISM & RELATED DISORDERS (2015)

Article Biochemistry & Molecular Biology

CACNA1B mutation is linked to unique myoclonus-dystonia syndrome

Justus L. Groen et al.

HUMAN MOLECULAR GENETICS (2015)

Article Neurosciences

Abnormal High-Frequency Burst Firing of Cerebellar Neurons in Rapid-Onset Dystonia-Parkinsonism

Rachel Fremont et al.

JOURNAL OF NEUROSCIENCE (2014)

Review Neurosciences

The role of AMPA receptors in postsynaptic mechanisms of synaptic plasticity

Thomas E. Chater et al.

FRONTIERS IN CELLULAR NEUROSCIENCE (2014)

Article Neurosciences

Monitoring spike train synchrony

Thomas Kreuz et al.

JOURNAL OF NEUROPHYSIOLOGY (2013)

Article Genetics & Heredity

Mutations in ANO3 Cause Dominant Craniocervical Dystonia: Ion Channel Implicated in Pathogenesis

Gavin Charlesworth et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2012)

Review Neurosciences

Signaling mechanisms that coordinate the development and maintenance of dendritic fields

Kazuo Emoto

CURRENT OPINION IN NEUROBIOLOGY (2012)

Review Neurosciences

Signal Processing in the Axon Initial Segment

Maarten H. P. Kole et al.

NEURON (2012)

Review Neurosciences

Molecular mechanisms of dendrite morphogenesis

Jyothi Arikkath

FRONTIERS IN CELLULAR NEUROSCIENCE (2012)

Article Biochemistry & Molecular Biology

SGCE isoform characterization and expression in human brain: implications for myoclonus-dystonia pathogenesis?

Katja Ritz et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2011)

Article Neurosciences

The axon initial segment in nervous system disease and injury

Shelly A. Buffington et al.

EUROPEAN JOURNAL OF NEUROSCIENCE (2011)

Review Neurosciences

Dendritic spine pathology in neuropsychiatric disorders

Peter Penzes et al.

NATURE NEUROSCIENCE (2011)

Review Neurosciences

Axon initial segment dysfunction in epilepsy

Verena C. Wimmer et al.

JOURNAL OF PHYSIOLOGY-LONDON (2010)

Article Multidisciplinary Sciences

Activity-dependent relocation of the axon initial segment fine-tunes neuronal excitability

Matthew S. Grubb et al.

NATURE (2010)

Review Neurosciences

Branching out: mechanisms of dendritic arborization

Yuh-Nung Jan et al.

NATURE REVIEWS NEUROSCIENCE (2010)

Article Cell Biology

Rho and Ras GTPases in Axon Growth, Guidance, and Branching

Alan Hall et al.

COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY (2010)

Article Biochemical Research Methods

Impact of Dendritic Size and Dendritic Topology on Burst Firing in Pyramidal Cells

Ronald A. J. van Elburg et al.

PLOS COMPUTATIONAL BIOLOGY (2010)

Review Clinical Neurology

Myoclonus-Dystonia: An Update

Kiyoka Kinugawa et al.

MOVEMENT DISORDERS (2009)

Article Neurosciences

ABNORMAL STRUCTURE-FUNCTION RELATIONSHIPS IN HEREDITARY DYSTONIA

M. Carbon et al.

NEUROSCIENCE (2009)

Article Neurosciences

Action potential generation requires a high sodium channel density in the axon initial segment

Maarten H. P. Kole et al.

NATURE NEUROSCIENCE (2008)

Article Clinical Neurology

Microstructural white matter changes in primary torsion dystonia

Maren Carbon et al.

MOVEMENT DISORDERS (2008)

Article Neurosciences

Neuroligins determine synapse maturation and function

Frederique Varoqueaux et al.

NEURON (2006)

Article Multidisciplinary Sciences

Control of excitatory and inhibitory synapse formation by neuroligins

B Chih et al.

SCIENCE (2005)

Article Multidisciplinary Sciences

α-neurexins couple Ca2+ channels to synaptic vesicle exocytosis

M Missler et al.

NATURE (2003)

Article Biochemistry & Molecular Biology

The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted

M Grabowski et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2003)

Review Neurosciences

Activity-dependent regulation of dendritic growth and patterning

ROL Wong et al.

NATURE REVIEWS NEUROSCIENCE (2002)

Article Genetics & Heredity

Mutations in the gene encoding ε-sarcoglycan cause myoclonus-dystonia syndrome

A Zimprich et al.

NATURE GENETICS (2001)

Article Biochemistry & Molecular Biology

A new mathematical model for relative quantification in real-time RT-PCR

MW Pfaffl

NUCLEIC ACIDS RESEARCH (2001)