Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus
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Title
Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus
Authors
Keywords
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Journal
BRAIN
Volume 138, Issue 2, Pages 246-268
Publisher
Oxford University Press (OUP)
Online
2015-01-01
DOI
10.1093/brain/awu368
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Note: Only part of the references are listed.- Muscle-specific inositide phosphatase (MIP/MTMR14) is reduced with age and its loss accelerates skeletal muscle aging process by altering calcium homeostasis
- (2016) Sandra Romero-Suarez et al. Aging-US
- SPEG Interacts with Myotubularin, and Its Deficiency Causes Centronuclear Myopathy with Dilated Cardiomyopathy
- (2014) Pankaj B. Agrawal et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Conditional Knockout of Pik3c3 Causes a Murine Muscular Dystrophy
- (2014) Aaron Reifler et al. AMERICAN JOURNAL OF PATHOLOGY
- Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/β-Cardiac Myosin (MYH7) Distal Myopathy
- (2014) Phillipa J. Lamont et al. HUMAN MUTATION
- KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy
- (2014) Ankit Garg et al. JOURNAL OF CLINICAL INVESTIGATION
- Reducing dynamin 2 expression rescues X-linked centronuclear myopathy
- (2014) Belinda S. Cowling et al. JOURNAL OF CLINICAL INVESTIGATION
- RYR1-related congenital myopathy with fatigable weakness, responding to pyridostigimine
- (2014) M.A. Illingworth et al. NEUROMUSCULAR DISORDERS
- Gene Therapy Prolongs Survival and Restores Function in Murine and Canine Models of Myotubular Myopathy
- (2014) M. K. Childers et al. Science Translational Medicine
- VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy
- (2013) Nivetha Ramachandran et al. ACTA NEUROPATHOLOGICA
- Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy
- (2013) Gianina Ravenscroft et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Constitutive Activation of the Calcium Sensor STIM1 Causes Tubular-Aggregate Myopathy
- (2013) Johann Böhm et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy
- (2013) Vandana A. Gupta et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Lack of myostatin impairs mechanical performance and ATP cost of contraction in exercising mouse gastrocnemius muscle in vivo
- (2013) Benoît Giannesini et al. AMERICAN JOURNAL OF PHYSIOLOGY-ENDOCRINOLOGY AND METABOLISM
- Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies
- (2013) Ann E. Davidson et al. BRAIN
- K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity
- (2013) Nancy Mokbel et al. BRAIN
- Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy
- (2013) Coen A. C. Ottenheijm et al. BRAIN
- Mutations in MYH7 reduce the force generating capacity of sarcomeres in human familial hypertrophic cardiomyopathy
- (2013) E. Rosalie Witjas-Paalberends et al. CARDIOVASCULAR RESEARCH
- Sustained Activation of mTORC1 in Skeletal Muscle Inhibits Constitutive and Starvation-Induced Autophagy and Causes a Severe, Late-Onset Myopathy
- (2013) Perrine Castets et al. Cell Metabolism
- Perturbed Length-Dependent Activation in Human Hypertrophic Cardiomyopathy With Missense Sarcomeric Gene Mutations
- (2013) Vasco Sequeira et al. CIRCULATION RESEARCH
- Mechanisms for fiber-type specificity of skeletal muscle atrophy
- (2013) Yichen Wang et al. CURRENT OPINION IN CLINICAL NUTRITION AND METABOLIC CARE
- The myopathy-causing mutation DNM2-S619L leads to defective tubulation in vitro and in developing zebrafish
- (2013) E. M. Gibbs et al. Disease Models & Mechanisms
- The myotubularin–amphiphysin 2 complex in membrane tubulation and centronuclear myopathies
- (2013) Barbara Royer et al. EMBO REPORTS
- Cardiac -actin over-expression therapy in dominant ACTA1 disease
- (2013) G. Ravenscroft et al. HUMAN MOLECULAR GENETICS
- Site-specific Mtm1 mutagenesis by an AAV-Cre vector reveals that myotubularin is essential in adult muscle
- (2013) Romain Joubert et al. HUMAN MOLECULAR GENETICS
- Congenital myopathy is caused by mutation of HACD1
- (2013) Emad Muhammad et al. HUMAN MOLECULAR GENETICS
- Recessive TTN truncating mutations define novel forms of core myopathy with heart disease
- (2013) C. Chauveau et al. HUMAN MOLECULAR GENETICS
- Mutations in repeating structural motifs of tropomyosin cause gain of function in skeletal muscle myopathy patients
- (2013) Steven Marston et al. HUMAN MOLECULAR GENETICS
- Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy
- (2013) Michael W. Lawlor et al. HUMAN MOLECULAR GENETICS
- RyR1 Deficiency in Congenital Myopathies Disrupts Excitation-Contraction Coupling
- (2013) Haiyan Zhou et al. HUMAN MUTATION
- Structural Basis for Cul3 Protein Assembly with the BTB-Kelch Family of E3 Ubiquitin Ligases
- (2013) Peter Canning et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations
- (2013) Josine Marieke de Winter et al. JOURNAL OF MEDICAL GENETICS
- Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy
- (2013) Elizabeth M. Gibbs et al. JOURNAL OF MOLECULAR MEDICINE-JMM
- Hereditary myopathy with early respiratory failure: occurrence in various populations
- (2013) J. Palmio et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Severe congenital RYR1-associated myopathy: The expanding clinicopathologic and genetic spectrum
- (2013) D. X. Bharucha-Goebel et al. NEUROLOGY
- Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy
- (2013) O. Ceyhan-Birsoy et al. NEUROLOGY
- A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies
- (2013) Nigel F. Clarke et al. NEUROMUSCULAR DISORDERS
- Human congenital myopathy actin mutants cause myopathy and alter Z-disc structure in Drosophila flight muscle
- (2013) Maria Sevdali et al. NEUROMUSCULAR DISORDERS
- A new de novo missense mutation in MYH2 expands clinical and genetic findings in hereditary myosin myopathies
- (2013) A. D’Amico et al. NEUROMUSCULAR DISORDERS
- Congenital myopathies – Clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom
- (2013) L. Maggi et al. NEUROMUSCULAR DISORDERS
- Impact of enzyme replacement therapy on survival in adults with Pompe disease: results from a prospective international observational study
- (2013) Deniz Güngör et al. Orphanet Journal of Rare Diseases
- Genotype-phenotype correlations in recessive RYR1-related myopathies
- (2013) Kimberly Amburgey et al. Orphanet Journal of Rare Diseases
- Fast Skeletal Muscle Troponin Activation Increases Force of Mouse Fast Skeletal Muscle and Ameliorates Weakness Due to Nebulin-Deficiency
- (2013) Eun-Jeong Lee et al. PLoS One
- Stac3 Is a Novel Regulator of Skeletal Muscle Development in Mice
- (2013) Brad M. Reinholt et al. PLoS One
- Skeletal muscle-specific T-tubule protein STAC3 mediates voltage-induced Ca2+ release and contractility
- (2013) B. R. Nelson et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Stac3 is a component of the excitation–contraction coupling machinery and mutated in Native American myopathy
- (2013) Eric J. Horstick et al. Nature Communications
- Altered Splicing of the BIN1 Muscle-Specific Exon in Humans and Dogs with Highly Progressive Centronuclear Myopathy
- (2013) Johann Böhm et al. PLoS Genetics
- A myopathy-related actin mutation increases contractile function
- (2012) Johan Lindqvist et al. ACTA NEUROPATHOLOGICA
- Myosinopathies: pathology and mechanisms
- (2012) Homa Tajsharghi et al. ACTA NEUROPATHOLOGICA
- Skeletal muscle α-actin diseases (actinopathies): pathology and mechanisms
- (2012) Kristen J. Nowak et al. ACTA NEUROPATHOLOGICA
- Dominant Mutation of CCDC78 in a Unique Congenital Myopathy with Prominent Internal Nuclei and Atypical Cores
- (2012) Karen Majczenko et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Myotubularin-Deficient Myoblasts Display Increased Apoptosis, Delayed Proliferation, and Poor Cell Engraftment
- (2012) Michael W. Lawlor et al. AMERICAN JOURNAL OF PATHOLOGY
- Impairment of protein degradation in myofibrillar myopathy caused by FLNC/filamin C mutations
- (2012) Rudolf A. Kley et al. Autophagy
- KBTBD13 interacts with Cullin 3 to form a functional ubiquitin ligase
- (2012) Nyamkhishig Sambuughin et al. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
- Pathophysiology of protein aggregation and extended phenotyping in filaminopathy
- (2012) Rudolf A. Kley et al. BRAIN
- Oxidative stress and successful antioxidant treatment in models of RYR1-related myopathy
- (2012) James J. Dowling et al. BRAIN
- Interference with Myostatin/ActRIIB Signaling as a Therapeutic Strategy for Duchenne Muscular Dystrophy
- (2012) Helge Amthor et al. CURRENT GENE THERAPY
- Congenital Myopathies: An Update
- (2012) Jessica R. Nance et al. Current Neurology and Neuroscience Reports
- Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models
- (2012) J. J. Dowling et al. Disease Models & Mechanisms
- Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies
- (2012) Andrea Klein et al. HUMAN MUTATION
- Selenoprotein N in skeletal muscle: from diseases to function
- (2012) Perrine Castets et al. JOURNAL OF MOLECULAR MEDICINE-JMM
- Developmental regulation of MURF E3 ubiquitin ligases in skeletal muscle
- (2012) Sue Perera et al. JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY
- Defective Autophagy and mTORC1 Signaling in Myotubularin Null Mice
- (2012) K. M. Fetalvero et al. MOLECULAR AND CELLULAR BIOLOGY
- Activation of fast skeletal muscle troponin as a potential therapeutic approach for treating neuromuscular diseases
- (2012) Alan J Russell et al. NATURE MEDICINE
- Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores
- (2012) Steven E. Boyden et al. NEUROGENETICS
- Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation
- (2012) R. K. Jain et al. NEUROLOGY
- Congenital myopathy caused by a novel missense mutation in the CFL2 gene
- (2012) C.W. Ockeloen et al. NEUROMUSCULAR DISORDERS
- Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement
- (2012) T. Cullup et al. NEUROMUSCULAR DISORDERS
- Nemaline Myopathy-Related Skeletal Muscle α-Actin (ACTA1) Mutation, Asp286Gly, Prevents Proper Strong Myosin Binding and Triggers Muscle Weakness
- (2012) Julien Ochala et al. PLoS One
- A Centronuclear Myopathy - Dynamin 2 Mutation Impairs Autophagy in Mice
- (2012) Anne-Cécile Durieux et al. TRAFFIC
- Autophagy as a new therapeutic target in Duchenne muscular dystrophy
- (2012) C De Palma et al. Cell Death & Disease
- Defective Membrane Remodeling in Neuromuscular Diseases: Insights from Animal Models
- (2012) Belinda S. Cowling et al. PLoS Genetics
- Phosphatase-Dead Myotubularin Ameliorates X-Linked Centronuclear Myopathy Phenotypes in Mice
- (2012) Leonela Amoasii et al. PLoS Genetics
- The Sarcomeric Protein Nebulin: Another Multifunctional Giant in Charge of Muscle Strength Optimization
- (2012) Coen A. C. Ottenheijm et al. Frontiers in Physiology
- Increased Expression of Wild-Type or a Centronuclear Myopathy Mutant of Dynamin 2 in Skeletal Muscle of Adult Mice Leads to Structural Defects and Muscle Weakness
- (2011) Belinda S. Cowling et al. AMERICAN JOURNAL OF PATHOLOGY
- Inhibition of Activin Receptor Type IIB Increases Strength and Lifespan in Myotubularin-Deficient Mice
- (2011) Michael W. Lawlor et al. AMERICAN JOURNAL OF PATHOLOGY
- Prevalence of congenital myopathies in a representative pediatric united states population
- (2011) Kimberly Amburgey et al. ANNALS OF NEUROLOGY
- Abnormal actin binding of aberrant β-tropomyosins is a molecular cause of muscle weakness inTPM2-related nemaline and cap myopathy
- (2011) Minttu Marttila et al. BIOCHEMICAL JOURNAL
- Hypertrophy and dietary tyrosine ameliorate the phenotypes of a mouse model of severe nemaline myopathy
- (2011) Mai-Anh T. Nguyen et al. BRAIN
- Mouse models of dominant ACTA1 disease recapitulate human disease and provide insight into therapies
- (2011) Gianina Ravenscroft et al. BRAIN
- neb: a zebrafish model of nemaline myopathy due to nebulin mutation
- (2011) W. R. Telfer et al. Disease Models & Mechanisms
- Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype
- (2011) Christopher R. Pierson et al. HUMAN MOLECULAR GENETICS
- Changes in cross-bridge cycling underlie muscle weakness in patients with tropomyosin 3-based myopathy
- (2011) C. A. C. Ottenheijm et al. HUMAN MOLECULAR GENETICS
- Myotubularin Regulates Akt-dependent Survival Signaling via Phosphatidylinositol 3-Phosphate
- (2011) Gina L. Razidlo et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)
- (2011) Clare V Logan et al. NATURE GENETICS
- SEPN1-related myopathies: Clinical course in a large cohort of patients
- (2011) M. Scoto et al. NEUROLOGY
- Endplate structure and parameters of neuromuscular transmission in sporadic centronuclear myopathy associated with myasthenia
- (2011) Teerin Liewluck et al. NEUROMUSCULAR DISORDERS
- Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies
- (2011) Stephanie A. Robb et al. NEUROMUSCULAR DISORDERS
- Novel mutation in MYH7 gene associated with distal myopathy and cardiomyopathy
- (2011) Houman Homayoun et al. NEUROMUSCULAR DISORDERS
- Mendelian Disorders of Membrane Trafficking
- (2011) Maria Antonietta De Matteis et al. NEW ENGLAND JOURNAL OF MEDICINE
- Conformation-regulated mechanosensory control via titin domains in cardiac muscle
- (2011) Tobias Voelkel et al. PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY
- Increased Muscle Stress-Sensitivity Induced by Selenoprotein N Inactivation in Mouse: A Mammalian Model for SEPN1-Related Myopathy
- (2011) Mathieu Rederstorff et al. PLoS One
- Clinical Approach to the Diagnosis of Congenital Myopathies
- (2011) Kathryn N. North Seminars in Pediatric Neurology
- Core Myopathies
- (2011) Heinz Jungbluth et al. Seminars in Pediatric Neurology
- Congenital Fiber-Type Disproportion
- (2011) Nigel F. Clarke Seminars in Pediatric Neurology
- Centronuclear Myopathies
- (2011) Norma B. Romero et al. Seminars in Pediatric Neurology
- Nemaline Myopathies
- (2011) Carina Wallgren-Pettersson et al. Seminars in Pediatric Neurology
- Protein Aggregation in Congenital Myopathies
- (2011) Hans H. Goebel et al. Seminars in Pediatric Neurology
- Phosphoinositide Regulation of Integrin Trafficking Required for Muscle Attachment and Maintenance
- (2011) Inês Ribeiro et al. PLoS Genetics
- Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy
- (2011) Michael W Lawlor et al. Skeletal Muscle
- Regulation of skeletal muscle growth by the IGF1-Akt/PKB pathway: insights from genetic models
- (2011) Stefano Schiaffino et al. Skeletal Muscle
- Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies
- (2010) Anne Toussaint et al. ACTA NEUROPATHOLOGICA
- Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores
- (2010) Nyamkhishig Sambuughin et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Autophagy in health and disease. 3. Involvement of autophagy in muscle atrophy
- (2010) Marco Sandri AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY
- Mutations in the Myostatin gene leading to hypermuscularity in mammals: indications for a similar mechanism in fish?
- (2010) A. Stinckens et al. ANIMAL GENETICS
- RYR1 mutations are a common cause of congenital myopathies with central nuclei
- (2010) J.M. Wilmshurst et al. ANNALS OF NEUROLOGY
- Autophagy inhibition induces atrophy and myopathy in adult skeletal muscles
- (2010) Eva Masiero et al. Autophagy
- Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy
- (2010) Sebahattin Cirak et al. BRAIN
- Human disease caused by loss of fast IIa myosin heavy chain due to recessive MYH2 mutations
- (2010) Homa Tajsharghi et al. BRAIN
- A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice
- (2010) Anne-Cécile Durieux et al. HUMAN MOLECULAR GENETICS
- Zebrafish MTMR14 is required for excitation–contraction coupling, developmental motor function and the regulation of autophagy
- (2010) J.J. Dowling et al. HUMAN MOLECULAR GENETICS
- New Insights into the Structural Roles of Nebulin in Skeletal Muscle
- (2010) Coen A. C. Ottenheijm et al. JOURNAL OF BIOMEDICINE AND BIOTECHNOLOGY
- DrosophilaMtm and class II PI3K coregulate a PI(3)P pool with cortical and endolysosomal functions
- (2010) Michaella Velichkova et al. JOURNAL OF CELL BIOLOGY
- Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle
- (2010) Karim Hnia et al. JOURNAL OF CLINICAL INVESTIGATION
- Nemaline myopathy type 6: Clinical and myopathological features
- (2010) Montse Olivé et al. MUSCLE & NERVE
- Autophagy is defective in collagen VI muscular dystrophies and its reactivation rescues myofiber degeneration
- (2010) Paolo Grumati et al. NATURE MEDICINE
- MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy
- (2010) N. Muelas et al. NEUROLOGY
- Drosophila indirect flight muscle specific Act88F actin mutants as a model system for studying congenital myopathies of the human ACTA1 skeletal muscle actin gene
- (2010) Sarah E. Haigh et al. NEUROMUSCULAR DISORDERS
- Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia
- (2010) P. Munot et al. NEUROMUSCULAR DISORDERS
- Developing standard procedures for pre-clinical efficacy studies in mouse models of spinal muscular atrophy
- (2010) Raffaella Willmann et al. NEUROMUSCULAR DISORDERS
- MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers
- (2010) A. H. Beggs et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Nebulin and N-WASP Cooperate to Cause IGF-1-Induced Sarcomeric Actin Filament Formation
- (2010) K. Takano et al. SCIENCE
- Oxidative stress inSEPN1-related myopathy: From pathophysiology to treatment
- (2009) Sandrine Arbogast et al. ANNALS OF NEUROLOGY
- Selenoproteins and Protection against Oxidative Stress: Selenoprotein N as a Novel Player at the Crossroads of Redox Signaling and Calcium Homeostasis
- (2009) Sandrine Arbogast et al. ANTIOXIDANTS & REDOX SIGNALING
- Autophagy Is Required to Maintain Muscle Mass
- (2009) Eva Masiero et al. Cell Metabolism
- Disruption of Striated Preferentially Expressed Gene Locus Leads to Dilated Cardiomyopathy in Mice
- (2009) Xiaoli Liu et al. CIRCULATION
- Control of autophagy initiation by phosphoinositide 3-phosphatase jumpy
- (2009) Isabelle Vergne et al. EMBO JOURNAL
- Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency
- (2009) C. A.C. Ottenheijm et al. HUMAN MOLECULAR GENETICS
- Mutations and polymorphisms of the skeletal muscle α-actin gene (ACTA1)
- (2009) Nigel G. Laing et al. HUMAN MUTATION
- Rescue of skeletal muscle α-actin–null mice by cardiac (fetal) α-actin
- (2009) Kristen J. Nowak et al. JOURNAL OF CELL BIOLOGY
- Mutations at the same amino acid in myosin that cause either skeletal or cardiac myopathy have distinct molecular phenotypes
- (2009) Thomas Z. Armel et al. JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY
- Altered myofilament function depresses force generation in patients with nebulin-based nemaline myopathy (NEM2)
- (2009) Coen A.C. Ottenheijm et al. JOURNAL OF STRUCTURAL BIOLOGY
- Deficiency of MIP/MTMR14 phosphatase induces a muscle disorder by disrupting Ca2+ homeostasis
- (2009) Jinhua Shen et al. NATURE CELL BIOLOGY
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- (2009) N. B. Romero et al. NEUROLOGY
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- (2009) Kanneboyina Nagaraju et al. NEUROMUSCULAR DISORDERS
- Ca2+ sensitizers: An emerging class of agents for counterbalancing weakness in skeletal muscle diseases?
- (2009) Julien Ochala NEUROMUSCULAR DISORDERS
- Ca2+ dysregulation in Ryr1I4895T/wt mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rods
- (2009) E. Zvaritch et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
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- (2009) L. Al-Qusairi et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
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- (2009) S. Boncompagni et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
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- (2009) T. Z. Armel et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
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- (2009) James J. Dowling et al. PLoS Genetics
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- (2008) Demetra S. Stamm et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
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- (2008) C. Florian Bentzinger et al. Cell Metabolism
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- (2008) Coen A. C. Ottenheijm et al. FASEB JOURNAL
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- (2008) M. J. Jurynec et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
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