Sporadic Late-onset Nemaline Myopathy Associated with Sjögren's Syndrome., PMID:38432961
Pharmacological Inhibition of Myostatin in a Mouse Model of Typical Nemaline Myopathy Increases Muscle Size and Force., PMID:37894805
Sporadic Late-Onset Nemaline Myopathy: Current Landscape., PMID:37856049
Sporadic late onset nemaline myopathy with concurrent dermatological symptoms responding to immunosuppressive treatment., PMID:37328820
Clinicopathologic Profiles of Sporadic Late-Onset Nemaline Myopathy: Practical Importance of Anti-α-Actinin Immunostaining., PMID:35581006
68-year old man with progressive weakness and ventilator dependent respiratory failure: a case report of sporadic late onset nemaline myopathy., PMID:35305606
Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies., PMID:35302338
Proteomic profiling of sporadic late-onset nemaline myopathy., PMID:35187860
What Is in the Myopathy Literature?, PMID:34808649
A case of dermatomyositis in a patient with central core disease: unusual association with autoimmunity and genetic muscle disease., PMID:34193198
High prevalence of sporadic late-onset nemaline myopathy in a cohort of whole-exome sequencing negative myopathy patients., PMID:34172358
Recent data and developments in myositis., PMID:34043261
Anti-AAV Antibodies in AAV Gene Therapy: Current Challenges and Possible Solutions., PMID:33815421
Reply to: Comments on: Chemotherapy-based approach is the preferred treatment for sporadic late-onset nemaline myopathy with a monoclonal protein., PMID:33742687
Comments on: Chemotherapy-based approach is the preferred treatment for sporadic late-onset nemaline myopathy with a monoclonal protein., PMID:33742684
Chemotherapy-based approach is the preferred treatment for sporadic late-onset nemaline myopathy with a monoclonal protein., PMID:33529362
A Dominant C150Y Mutation in FHL1 Induces Structural Alterations in LIM2 Domain Causing Protein Aggregation In Human and Drosophila Indirect Flight Muscles., PMID:33515430
Polymyositis: is there anything left? A retrospective diagnostic review from a tertiary myositis centre., PMID:33367878
From Diagnosis to Prognosis: Revisiting the Meaning of Muscle ISG15 Overexpression in Juvenile Inflammatory Myopathies., PMID:33314705
Sporadic late-onset nemaline myopathy with monoclonal gammopathy of undetermined significance: Report of four patients., PMID:33308940
Sporadic late-onset nemaline myopathy in a patient with silicone breast implants., PMID:32590250
Author response: Sporadic late-onset nemaline myopathy: Clinical spectrum, survival, and treatment outcomes., PMID:32540944
Reader response: Sporadic late-onset nemaline myopathy: Clinical spectrum, survival, and treatment outcomes., PMID:32540943
[A case of sporadic late-onset nemaline myopathy associated with myasthenia gravis positive for anti-titin antibody and anti-Kv1.4 antibody]., PMID:32536668
Centronuclear Myopathy with Abundant Nemaline Rods in a Japanese Black and Hereford Crossbred Calf., PMID:31955807
Different in vivo impacts of dynamin 2 mutations implicated in Charcot-Marie-Tooth neuropathy or centronuclear myopathy., PMID:31628461
The myotubularin MTMR4 regulates phagosomal phosphatidylinositol 3-phosphate turnover and phagocytosis., PMID:31543504
Novel compound heterozygous GFPT1 mutations in a family with limb-girdle myasthenia with tubular aggregates., PMID:31255525
Sporadic late-onset nemaline myopathy: Clinical spectrum, survival, and treatment outcomes., PMID:31167932
Sporadic late-onset nemaline myopathy: clinical, pathology and imaging findings in a single center cohort., PMID:29356967
Monoclonal gammopathy with both nemaline myopathy and amyloid myopathy., PMID:28606401
[Two cases of sporadic late onset nemaline myopathy effectively treated with immunotherapy]., PMID:27580764
Splicing mutation in Sbf1 causes nonsyndromic male infertility in the rat., PMID:27335132
Adult-onset Nemaline Myopathy Coexisting With Myasthenia Gravis: A Case Report., PMID:26825889
Novel TPM3 mutation in a family with cap myopathy and review of the literature., PMID:24239060
Sporadic late onset nemaline myopathy and immunoglobulin deposition disease., PMID:23873431
Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy., PMID:23715096
Differential phosphorylation of the phosphoinositide 3-phosphatase MTMR2 regulates its association with early endosomal subtypes., PMID:23378027
Phosphatidylinositol 3-phosphatase myotubularin-related protein 6 (MTMR6) is regulated by small GTPase Rab1B in the early secretory and autophagic pathways., PMID:23188820
Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation., PMID:22752422
Myotubular myopathy caused by multiple abnormal splicing variants in the MTM1 RNA in a patient with a mild phenotype., PMID:22258523
Mild functional differences of dynamin 2 mutations associated to centronuclear myopathy and Charcot-Marie Tooth peripheral neuropathy., PMID:22096584
HIV-related neuromuscular diseases: nemaline myopathy, amyotrophic lateral sclerosis and bibrachial amyotrophic diplegia., PMID:21842590
Sporadic late-onset nemaline myopathy in a patient with primary Sjögren's syndrome., PMID:21744311
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., PMID:21514436
Enhanced excitation-coupled Ca(2+) entry induces nuclear translocation of NFAT and contributes to IL-6 release from myotubes from patients with central core disease., PMID:21088110
MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers., PMID:20682747
Regulation of phenotypic variability by a threshold-based mechanism underlies bacterial persistence., PMID:20616060
Novel molecular diagnostic approaches for X-linked centronuclear (myotubular) myopathy reveal intronic mutations., PMID:20434914
Myopathy-causing actin mutations promote defects in serum-response factor signalling., PMID:20088824
For research use only. Not for human or drug use.
