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Targeting neuromuscular junction to treat neuromuscular disorders

LIFE SCIENCES (2023)

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Article Neurosciences

Delayed viral vector mediated delivery of neurotrophin-3 improves skilled hindlimb function and stability after thoracic contusion

Jared D. Sydney -Smith et al.

Summary: Intramuscular injection of AAV1-NT3 after severe spinal contusion in rats can induce neuroplasticity, partially restore locomotive function, and reduce spasms. Targeted delivery of NT3 to motor neurons 48 hours after injury modestly improves trunk stability, stepping accuracy, and hindlimb coordination, but has no effect on gross locomotor function.

EXPERIMENTAL NEUROLOGY (2023)

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Review Biochemistry & Molecular Biology

Collagen VI in the Musculoskeletal System

Alberto Di Martino et al.

Summary: Collagen VI has diverse functions in tissues, including mechanical roles, cytoprotective functions, and regulation of cell differentiation and autophagy. Mutations in COL6A1, COL6A2, and COL6A3 genes cause muscular disorders such as UCMD, BM, and MM, which present with muscle wasting and weakness, joint contractures, and respiratory compromise. Currently, effective therapeutic strategies are lacking, and the effects of collagen VI mutations on other tissues are poorly understood. This review aims to outline the role of collagen VI in the musculoskeletal system and provide an update on its tissue-specific functions to bridge the knowledge gap between scientists and clinicians managing collagen VI-related myopathies.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2023)

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Review Biochemistry & Molecular Biology

Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review

Kinji Ohno et al.

Summary: Congenital myasthenic syndromes (CMS) are a group of heterogeneous disorders characterized by impaired neuromuscular signal transmission due to germline pathogenic variants in genes expressed at the neuromuscular junction (NMJ). A total of 35 genes have been reported in CMS, which can be classified into 14 groups based on the pathomechanical, clinical, and therapeutic features of CMS patients. Diagnosing CMS requires measurement of compound muscle action potentials elicited by repetitive nerve stimulation, and accurate diagnosis always requires genetic studies.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2023)

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Review Geriatrics & Gerontology

C-terminal agrin fragment as a biomarker of muscle wasting and weakness: a narrative review

Elena Monti et al.

Summary: Ageing is associated with muscle loss and functionality decline, which increases the risk of various diseases. Sarcopenia, caused by muscle wasting and weakness, leads to falls and injuries, impacting health and social costs. Easily accessible blood biomarkers like C-terminal agrin fragment (CAF) are being studied for screening and prevention. CAF concentration increases with age and in sarcopenic individuals, and is elevated in muscle wasting conditions like diabetes and cancer. Inactivity raises CAF levels, while exercise training may lower or maintain them. CAF correlates with muscle mass and function measurements, but longitudinal changes are still debated.

JOURNAL OF CACHEXIA SARCOPENIA AND MUSCLE (2023)

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Article Cell Biology

Neuromuscular junction transmission failure in aging and sarcopenia: The nexus of the neurological and muscular systems

W. David Arnold et al.

Summary: Sarcopenia, or age-related decline in muscle form and function, has significant personal, societal, and economic burdens. The neuromuscular junction (NMJ), as the nexus between the nervous and muscular systems, plays a critical role in muscle force generation. While NMJ changes have been extensively studied in aged rodents, the presence of NMJ changes in older humans remains controversial. This review article discusses the physiological processes of NMJ transmission, the potential contribution of NMJ transmission failure to sarcopenia, and the possibility of targeting these defects for therapeutic development.

AGEING RESEARCH REVIEWS (2023)

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Article Geriatrics & Gerontology

AAV1.NT-3 gene therapy in the SOD1KO mouse model of accelerated sarcopenia

Lingying Tong et al.

Summary: AAV1.NT-3 gene therapy improved the functional and histological effects of accelerated aging in SOD1KO mice, potentially through activation of the mTOR and glycolytic pathways in muscle.

JOURNAL OF CACHEXIA SARCOPENIA AND MUSCLE (2023)

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Article Clinical Neurology

Enhanced low-threshold motor unit capacity during endurance tasks in patients with spinal muscular atrophy using pyridostigmine

Laura E. Habets et al.

Summary: The study investigates the electrophysiological basis of pyridostigmine enhancement of endurance performance in patients with spinal muscular atrophy. The results show that pyridostigmine improves the low-threshold motor unit function in upper extremity muscles, reducing muscle fatigue.

CLINICAL NEUROPHYSIOLOGY (2023)

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Article Biochemistry & Molecular Biology

Evaluation of Sarcopenia Using Biomarkers of the Neuromuscular Junction in Parkinson's Disease

Asima Karim et al.

Summary: A biomarker to accurately predict muscle loss in Parkinson's disease (PD) patients has not yet been found. In this study, we evaluated the biomarkers of neuromuscular junction stability and found that levels of CAF22 were elevated while levels of BDNF and GDNF were reduced in PD patients. These biomarkers showed significant associations with muscle loss indicators. Combining these biomarkers into a cumulative risk score enhanced the diagnostic accuracy of muscle loss.

JOURNAL OF MOLECULAR NEUROSCIENCE (2022)

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Article Biochemistry & Molecular Biology

AAV1.NT-3 gene therapy for X-linked Charcot-Marie-Tooth neuropathy type 1

Burcak Ozes et al.

Summary: This study demonstrated that delivering scAAV1.tMCK.NT-3 to the muscle of Cx32 knockout mice can increase NT-3 levels and improve functional, electrophysiological, and histological parameters related to CMTX1.

GENE THERAPY (2022)

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Review Clinical Neurology

The landscape of neurophysiological outcome measures in ALS interventional trials: A systematic review

N. Ahmed et al.

Summary: This article summarizes interventional clinical trials in amyotrophic lateral sclerosis (ALS) that utilized neurophysiological techniques as outcome measures. By identifying the strengths and limitations of these studies, the aim is to guide future trial design. The results show that neurophysiology offers promising biomarkers for outcome measures in ALS trials.

CLINICAL NEUROPHYSIOLOGY (2022)

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Article Medicine, General & Internal

Current Treatment of Myasthenia Gravis

Mohammed K. Alhaidar et al.

Summary: This review summarizes the current treatment options for myasthenia gravis (MG), including immunosuppressive and non-immunosuppressive treatments, as well as thymectomy and targeted immunomodulatory drugs.

JOURNAL OF CLINICAL MEDICINE (2022)

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Article Clinical Neurology

Amifampridine safety and efficacy in spinal muscular atrophy ambulatory patients: a randomized, placebo-controlled, crossover phase 2 trial

Silvia Bonanno et al.

Summary: Amifampridine is safe and effective in treating ambulatory SMA patients with a significant improvement in motor function scores, according to the SMA-001 study.

JOURNAL OF NEUROLOGY (2022)

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Article Neurosciences

Elevated plasma zonulin and CAF22 are correlated with sarcopenia and functional dependency at various stages of Alzheimer's diseases

Asima Karim et al.

Summary: This study found that plasma biomarkers of increased intestinal permeability and neuromuscular junction disruption were elevated in patients with early, mild, and moderate Alzheimer's disease. These biomarkers were negatively associated with handgrip strength, gait speed, and short physical performance battery scores. Patients with moderate AD exhibited higher levels of these biomarkers and lower functional capacity compared to patients with early AD.

NEUROSCIENCE RESEARCH (2022)

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Article Geriatrics & Gerontology

A multistrain probiotic improves handgrip strength and functional capacity in patients with COPD: A randomized controlled trial

Asima Karim et al.

Summary: The aim of this study was to evaluate the effects of probiotics on sarcopenia and physical capacity in COPD patients. The results showed that probiotic treatment can reduce intestinal permeability, stabilize neuromuscular junction, and improve muscle strength and functional performance. In addition, probiotics treatment also decreased plasma levels of markers of systemic inflammation and oxidative stress. However, probiotics treatment did not significantly reduce the prevalence of sarcopenia.

ARCHIVES OF GERONTOLOGY AND GERIATRICS (2022)

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Article Clinical Neurology

Randomized double-blind placebo-controlled crossover trial with pyridostigmine in spinal muscular atrophy types 2-4

Marloes Stam et al.

Summary: The study suggests that the acetylcholinesterase inhibitor pyridostigmine may have potential therapeutic effects on the fatigability and motor function of patients with spinal muscular atrophy types 2-4 as an additional treatment option.

BRAIN COMMUNICATIONS (2022)

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Article Clinical Neurology

Association of Hospital-Diagnosed Infections and Antibiotic Use With Risk of Developing Guillain-Barre Syndrome

Lotte S. Levison et al.

Summary: The study found a strong temporal association between community antibiotic use, especially infections necessitating hospitalization, and the risk of subsequent GBS. The risk of GBS was highest in the first month after infection, but remained increased even in the fifth month after infection, highlighting the importance of recognizing the relationship between infection and GBS.

NEUROLOGY (2021)

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Review Cell Biology

The emerging role of the sympathetic nervous system in skeletal muscle motor innervation and sarcopenia

Osvaldo Delbono et al.

Summary: Examining the neural factors involved in the decline of neuromuscular function with aging is crucial to understanding sarcopenia. The sympathetic nervous system may affect muscle composition and function by regulating skeletal muscle motor innervation. Additionally, the role of central neurons may contribute to the coordinated response of the neuromuscular system to physiological and pathological challenges across ages.

AGEING RESEARCH REVIEWS (2021)

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Article Multidisciplinary Sciences

Prediction of sarcopenia using a battery of circulating biomarkers

Rizwan Qaisar et al.

Summary: The study recruited healthy controls and patients with CHF and COPD, finding several circulating biomarkers effective in diagnosing and assessing sarcopenia. Risk scores calculated from individual biomarkers and combined into a cumulative risk score, with a median cutoff value used to divide subjects into high- and low-risk groups for sarcopenia. The battery of biomarkers can be an effective tool in the early diagnosis and assessment of sarcopenia, with significantly higher incidence of clinical sarcopenia found in the high-risk group.

SCIENTIFIC REPORTS (2021)

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Review Biochemistry & Molecular Biology

Muscle-Specific Promoters for Gene Therapy

V. V. Skopenkova et al.

Summary: Genetic diseases causing muscular disorders can be treated with gene replacement therapy, which delivers functional gene copies using viral vectors. The focus is on developing and improving muscle-specific promoters for high expression of therapeutic genes in skeletal muscles, diaphragm, and heart, while limiting activity in non-target tissues. This review also discusses the use of viral vectors and current approaches to engineer synthetic muscle-specific promoters.

ACTA NATURAE (2021)

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Article Physiology

Chloride channel inhibition improves neuromuscular function under conditions mimicking neuromuscular disorders

Thomas Holm Pedersen et al.

Summary: This study demonstrates that ClC-1 inhibition can enhance neuromuscular function in pharmacological models of compromised neuromuscular transmission.

ACTA PHYSIOLOGICA (2021)

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Review Clinical Neurology

Updated review of therapeutic strategies for Charcot-Marie-Tooth disease and related neuropathies

Chiara Pisciotta et al.

Summary: The landscape of pharmacological treatment for CMT and related neuropathies is rapidly evolving with several promising therapies being studied, particularly addressing PMP22 overexpression in CMT1A subtype. Gene silencing, targeting PMP22, and gene therapy are among the experimental approaches being explored in animal models, along with compounds targeting various pathways for potential therapeutic use. Researchers are confident that effective treatments for CMT will be available in the next few years with ongoing preclinical and clinical trials.

EXPERT REVIEW OF NEUROTHERAPEUTICS (2021)

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Article Peripheral Vascular Disease

Pyridostigmine ameliorates preeclamptic features in pregnant rats by inhibiting tumour necrosis factor-α synthetsis and antagonizing tumour necrosis factor-α-related effects

Abdoulaye Issotina Zibrila et al.

Summary: The study showed that PYR alleviated hypertension and other symptoms of preeclampsia in rat models by inhibiting TNF-α synthesis and directly counteracting its detrimental effects. This suggests that PYR may be a potential agent for preeclampsia management and warrants further investigation.

JOURNAL OF HYPERTENSION (2021)

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Article Multidisciplinary Sciences

Mechanism of disease and therapeutic rescue of Dok7 congenital myasthenia

Julien Oury et al.

Summary: Congenital myasthenia is a devastating neuromuscular disease caused by mutations in DOK7 gene, which is crucial for neuromuscular synapse formation. The most common disease-causing mutation truncates DOK7, leading to loss of phosphorylated tyrosine residues essential for acetylcholine receptor anchoring. Studies on mouse models identified a severe deficiency in muscle-specific kinase activation as the cause of deficits, and antibody treatment against MUSK showed potential therapy for CM.

NATURE (2021)

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Article Clinical Neurology

Gene Therapy Overexpressing Neuregulin 1 Type I in Combination With Neuregulin 1 Type III Promotes Functional Improvement in the SOD1G93A ALS Mice

Guillem Modol-Caballero et al.

Summary: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease without effective therapy currently available. Combining NRG1-I and NRG1-III gene therapy in a mouse model of ALS showed increased preservation of motor neurons and neuromuscular junctions, but did not produce a synergistic effect compared to single therapies.

FRONTIERS IN NEUROLOGY (2021)

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Article Clinical Neurology

AAV1.NT-3 gene therapy in a CMT2D model: phenotypic improvements in GarsP278KY/+ mice

Burcak Ozes et al.

Summary: The study demonstrates that neurotrophin 3 gene transfer therapy has a disease-modifying effect in a mouse model of Charcot-Marie-Tooth disease type 2D, leading to functional and electrophysiological improvements correlated with increased myelin thickness, neuromuscular junction integrity, and attenuation of a myopathic process associated with mitochondrial dysfunction.

BRAIN COMMUNICATIONS (2021)

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Article Anatomy & Morphology

Collagen XIII and Other ECM Components in the Assembly and Disease of the Neuromuscular Junction

Anne Heikkinen et al.

ANATOMICAL RECORD-ADVANCES IN INTEGRATIVE ANATOMY AND EVOLUTIONARY BIOLOGY (2020)

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Review Pharmacology & Pharmacy

Amifampridine for the Management of Lambert-Eaton Myasthenic Syndrome: A New Take on an Old Drug

Connie H. Yoon et al.

ANNALS OF PHARMACOTHERAPY (2020)

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Review Physiology

Skeletal muscle ClC-1 chloride channels in health and diseases

Concetta Altamura et al.

PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY (2020)

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Review Clinical Neurology

A Practical Approach to Managing Patients With Myasthenia Gravis-Opinions and a Review of the Literature

Maria Elena Farrugia et al.

FRONTIERS IN NEUROLOGY (2020)

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Review Clinical Neurology

MuSK-Associated Myasthenia Gravis: Clinical Features and Management

Carmelo Rodolico et al.

FRONTIERS IN NEUROLOGY (2020)

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Article Multidisciplinary Sciences

DOK7 Gene Therapy Enhances Neuromuscular Junction Innervation and Motor Function in Aged Mice

Ryo Ueta et al.

ISCIENCE (2020)

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Article Cell Biology

Neuron-specific deletion of CuZnSOD leads to an advanced sarcopenic phenotype in older mice

Shylesh Bhaskaran et al.

AGING CELL (2020)

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Article Biochemistry & Molecular Biology

AAV9-DOK7 gene therapy reduces disease severity in Smn2B/- SMA model mice

Kevin A. Kaifer et al.

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2020)

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Review Neurosciences

Collagens at the vertebrate neuromuscular junction, from structure to pathologies

Claire Legay et al.

NEUROSCIENCE LETTERS (2020)

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Article Neurosciences

Modulation of the Acetylcholine Receptor Clustering Pathway Improves Neuromuscular Junction Structure and Muscle Strength in a Mouse Model of Congenital Myasthenic Syndrome

Sally Spendiff et al.

FRONTIERS IN MOLECULAR NEUROSCIENCE (2020)

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Review Neurosciences

The Neuromuscular Junction in Health and Disease: Molecular Mechanisms Governing Synaptic Formation and Homeostasis

Pedro M. Rodriguez Cruz et al.

FRONTIERS IN MOLECULAR NEUROSCIENCE (2020)

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Article Neurosciences

Sympathomimetics regulate neuromuscular junction transmission through TRPV1, P/Q- and N-type Ca2+ channels

Anna Zaia Carolina Rodrigues et al.

MOLECULAR AND CELLULAR NEUROSCIENCE (2019)

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Article Multidisciplinary Sciences

Elucidating the Contribution of Skeletal Muscle Ion Channels to Amyotrophic Lateral Sclerosis in search of new therapeutic options

Giulia Maria Camerino et al.

SCIENTIFIC REPORTS (2019)

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Article Clinical Neurology

Salbutamol tolerability and efficacy in patients with spinal muscular atrophy type II

A. L. Frongia et al.

NEUROMUSCULAR DISORDERS (2019)

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Article Medicine, General & Internal

Myasthenia gravis

Nils Erik Gilhus et al.

NATURE REVIEWS DISEASE PRIMERS (2019)

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Article Clinical Neurology

Collagen VI is required for the structural and functional integrity of the neuromuscular junction

Matilde Cescon et al.

ACTA NEUROPATHOLOGICA (2018)

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Review Physiology

Neuromuscular Junction Formation, Aging, and Disorders

Lei Li et al.

ANNUAL REVIEW OF PHYSIOLOGY, VOL 80 (2018)

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Article Biochemistry & Molecular Biology

AAV1.NT-3 gene therapy increases muscle fiber diameter through activation of mTOR pathway and metabolic remodeling in a CMT mouse model

Mehmet E. Yalvac et al.

GENE THERAPY (2018)

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Review Biochemistry & Molecular Biology

The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes

Pedro M. Rodriguez Cruz et al.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2018)

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Article Neurosciences

Collagen XIII Is Required for Neuromuscular Synapse Regeneration and Functional Recovery after Peripheral Nerve Injury

Zarin Zainul et al.

JOURNAL OF NEUROSCIENCE (2018)

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Article Clinical Neurology

Engineered agrin attenuates the severity of experimental autoimmune myasthenia gravis

Zhiguo Li et al.

MUSCLE & NERVE (2018)

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Article Neurosciences

Increasing Agrin Function Antagonizes Muscle Atrophy and Motor Impairment in Spinal Muscular Atrophy

Marina Boido et al.

FRONTIERS IN CELLULAR NEUROSCIENCE (2018)

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Article Multidisciplinary Sciences

Specific inhibition of acetylcholinesterase as an approach to decrease muscarinic side effects during myasthenia gravis treatment

Konstantin A. Petrov et al.

SCIENTIFIC REPORTS (2018)

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Article Neurosciences

Sarcoglycan Alpha Mitigates Neuromuscular Junction Decline in Aged Mice by Stabilizing LRP4

Kai Zhao et al.

JOURNAL OF NEUROSCIENCE (2018)

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Article Medicine, General & Internal

Protocol for a phase II, monocentre, double-blind, placebo-controlled, cross-over trial to assess efficacy of pyridostigmine in patients with spinal muscular atrophy types 2-4 (SPACE trial)

Marloes Stam et al.

BMJ OPEN (2018)

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Article Cell Biology

The effects of neuregulin-1β on intrafusal muscle fiber formation in neuromuscular coculture of dorsal root ganglion explants and skeletal muscle cells

Yuan Qiao et al.

SKELETAL MUSCLE (2018)

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Review Physiology

NMJ maintenance and repair in aging

Thomas Taetzsch et al.

CURRENT OPINION IN PHYSIOLOGY (2018)

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Article Medicine, General & Internal

Amifampridine phosphate in the treatment of muscle-specific kinase myasthenia gravis: a phase IIb, randomized, double-blind, placebo-controlled, double crossover study

Silvia Bonanno et al.

SAGE OPEN MEDICINE (2018)

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Article Biochemistry & Molecular Biology

Collagen XIII secures pre-and postsynaptic integrity of the neuromuscular synapse

Heli Haronen et al.

HUMAN MOLECULAR GENETICS (2017)

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Article Cardiac & Cardiovascular Systems

Impact of exercise training associated to pyridostigmine treatment on autonomic function and inflammatory profile after myocardial infarction in rats

Daniele J. Feriani et al.

INTERNATIONAL JOURNAL OF CARDIOLOGY (2017)

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Review Biochemistry & Molecular Biology

The Structure of Human Neuromuscular Junctions: Some Unanswered Molecular Questions

Clarke R. Slater

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2017)

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Article Cell Biology

Cellular and Molecular Anatomy of the Human Neuromuscular Junction

Ross A. Jones et al.

CELL REPORTS (2017)

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Article Medicine, Research & Experimental

DOK7 gene therapy enhances motor activity and life span in ALS model mice

Sadanori Miyoshi et al.

EMBO MOLECULAR MEDICINE (2017)

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Article Cell Biology

Autophagy activation in COL6 myopathic patients by a low-protein-diet pilot trial

Silvia Castagnaro et al.

AUTOPHAGY (2016)

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Article Biochemistry & Molecular Biology

Muscle fiber type diversification during exercise and regeneration

Rizwan Qaisar et al.

FREE RADICAL BIOLOGY AND MEDICINE (2016)

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Article Cell Biology

Postnatal knockdown of dok-7 gene expression in mice causes structural defects in neuromuscular synapses and myasthenic pathology

Takahiro Eguchi et al.

GENES TO CELLS (2016)

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Article Cell Biology

Characteristics of Skeletal Muscle Fibers of SOD1 Knockout Mice

Hiroshi Nagahisa et al.

OXIDATIVE MEDICINE AND CELLULAR LONGEVITY (2016)

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Article Multidisciplinary Sciences

Sympathetic innervation controls homeostasis of neuromuscular junctions in health and disease

Muzamil Majid Khan et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2016)

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Article Genetics & Heredity

Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain

Clare V. Logan et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2015)

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Review Biochemistry & Molecular Biology

Myotonic dystrophies: An update on clinical aspects, genetic, pathology, and molecular pathomechanisms

Giovanni Meola et al.

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2015)

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Article Neurosciences

ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation

P. Imbrici et al.

JOURNAL OF PHYSIOLOGY-LONDON (2015)

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Article Clinical Neurology

Salbutamol and ephedrine in the treatment of severe AChR deficiency syndromes

Pedro M. Rodriguez Cruz et al.

NEUROLOGY (2015)

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Review Physiology

MECHANISMS REGULATING NEUROMUSCULAR JUNCTION DEVELOPMENT AND FUNCTION AND CAUSES OF MUSCLE WASTING

Lionel A. Tintignac et al.

PHYSIOLOGICAL REVIEWS (2015)

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Review Neurosciences

CIC-1 chloride channels: state-of-the-art research and future challenges

Paola Imbrici et al.

FRONTIERS IN CELLULAR NEUROSCIENCE (2015)

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Article Geriatrics & Gerontology

An olive oil-derived antioxidant mixture ameliorates the age-related decline of skeletal muscle function

Sabata Pierno et al.

AGE (2014)

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Article Biochemistry & Molecular Biology

Neuron-specific expression of CuZnSOD prevents the loss of muscle mass and function that occurs in homozygous CuZnSOD-knockout mice

Giorgos K. Sakellariou et al.

FASEB JOURNAL (2014)

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Article Biotechnology & Applied Microbiology

AAV1.NT-3 Gene Therapy for Charcot-Marie-Tooth Neuropathy

Zarife Sahenk et al.

MOLECULAR THERAPY (2014)

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Article Biochemistry & Molecular Biology

Soluble neuregulin-1 modulates disease pathogenesis in rodent models of Charcot-Marie-Tooth disease 1A

Robert Fledrich et al.

NATURE MEDICINE (2014)

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Article Multidisciplinary Sciences

Injection of a Soluble Fragment of Neural Agrin (NT-1654) Considerably Improves the Muscle Pathology Caused by the Disassembly of the Neuromuscular Junction

Stefan Hettwer et al.

PLOS ONE (2014)

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Article Multidisciplinary Sciences

DOK7 gene therapy benefits mouse models of diseases characterized by defects in the neuromuscular junction

Sumimasa Arimura et al.

SCIENCE (2014)

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Article Cell Biology

Autophagy Impairment in Muscle Induces Neuromuscular Junction Degeneration and Precocious Aging

Silvia Carnio et al.

CELL REPORTS (2014)

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Review Neurosciences

ALS as a distal axonopathy: molecular mechanisms affecting neuromuscular junction stability in the presymptomatic stages of the disease

Elizabeth B. Moloney et al.

FRONTIERS IN NEUROSCIENCE (2014)

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Article Clinical Neurology

Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1

Sarah Finlayson et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2013)

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Article Clinical Neurology

Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations

Georgina Burke et al.

NEUROMUSCULAR DISORDERS (2013)

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Review Biochemistry & Molecular Biology

Activation of receptor protein-tyrosine kinases from the cytoplasmic compartment

Yuji Yamanashi et al.

JOURNAL OF BIOCHEMISTRY (2012)

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Article Immunology

3,4-Diaminopyridine improves neuromuscular transmission in a MuSK antibody-induced mouse model of myasthenia gravis

Shuuichi Mori et al.

JOURNAL OF NEUROIMMUNOLOGY (2012)

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Article Clinical Neurology

Dysfunction of the neuromuscular junction in spinal muscular atrophy types 2 and 3

Renske I. Wadman et al.

NEUROLOGY (2012)

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Article Multidisciplinary Sciences

Agrin and Synaptic Laminin Are Required to Maintain Adult Neuromuscular Junctions

Melanie A. Samuel et al.

PLOS ONE (2012)

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Article Cell Biology

Increasing MuSK Activity Delays Denervation and Improves Motor Function in ALS Mice

Maria J. Perez-Garcia et al.

CELL REPORTS (2012)

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Article Cell Biology

Neuregulin/ErbB regulate neuromuscular junction development by phosphorylation of α-dystrobrevin

Nadine Schmidt et al.

JOURNAL OF CELL BIOLOGY (2011)

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Review Clinical Neurology

Lambert-Eaton myasthenic syndrome: from clinical characteristics to therapeutic strategies

Maarten J. Titulaer et al.

LANCET NEUROLOGY (2011)

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Article Clinical Neurology

BENEFICIAL EFFECTS OF ALBUTEROL IN CONGENITAL ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY AND Dok-7 MYASTHENIA

Teerin Liewluck et al.

MUSCLE & NERVE (2011)

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Article Cell Biology

Cyclosporine A in Ullrich Congenital Muscular Dystrophy: Long-Term Results

Luciano Merlini et al.

OXIDATIVE MEDICINE AND CELLULAR LONGEVITY (2011)

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Review Clinical Neurology

The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment

E. Matthews et al.

BRAIN (2010)

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Article Cell Biology

Specific proteolytic cleavage of agrin regulates maturation of the neuromuscular junction

Marc F. Bolliger et al.

JOURNAL OF CELL SCIENCE (2010)

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Muscle-Derived Collagen XIII Regulates Maturation of the Skeletal Neuromuscular Junction

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Mutations causing DOK7 congenital myasthenia ablate functional motifs in dok-7

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