Nemaline Myopathy
 

• Nemaline (rod) myopathies factsheet, UK Muscular Dystrophy Campaign, 2008

• Biallelic Pathogenic Variants i TNNT3 Associated With Congenital Myopathy, Calame, 2021

• A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8, Yi, 2021

• Expanding the spectrum of congenital myopathies: prenatal onset with extreme hyperextension of the neck, Tiberi, 2021

• Congenital asymmetric distal myopathy with hemifacial weakness caused by a heterozygous large de novo mosaic deletion in nebulin, Sagath, 2021

• Filamentous tangles with nemaline rods in MYH2 myopathy: a novel phenotype, Madigan, 2021

• Acute and chronic tirasemtiv treatment improves in vivo and in vitro muscle performance in actin-based nemaline myopathy mice, Winter, 2021

• Nemaline myopathy with dilated cardiomyopathy and severe heart failure: A case report, Qian Wang, 2021

• Novel TNNT1 mutation and mild nemaline myopathy phenotype in an Italian patient, Petrucci, 2021

• Clinico-pathological features and mutational spectrum of 16 nemaline myopathy patients from a Chinese neuromuscular center, Xi Yin, 2021

• Generation of two isogenic induced pluripotent stem cell lines form a 4 month-old severe nemaline myopathy patient with a heterozygous dominant c.553C>A (p.Arg183Ser) variant in the ACTA1 gene, Clayton, 2021

• NEMB6, KBTBD13-Related Congenital Myopathy: Myopathological Analysis in 18 Dutch Patient Reveals Ring Rods Fibers, Cores, Nuclear Clumbs, and Granulo-Filamentous Protein Material, Bouman, 2021

• A Cross-Sectional Study of Nemaline Myopathy, Amburgey, 2021

• A childhood-onset nemaline myopathy caused by novel heterozygote variants in the nebulin gene literature review, Wen, 2020

• a-tropomyosin gene (TPM3) mutation in an infant with nemaline myopathy, Almobarak, 2020

• Mutational and clinical spectrum in a cohort of Chinese patients with hereditary nemaline myopathy, Wang, 2020

• Homozygous intronic variants in tpm2 cause recessively inherited Escobar variant of multiple pterygium syndrome and congenital myopathy, Schirwani, 2020

• An integration-free iPSC line (SDQLCHi017-A) derived from a patient with nemaline myopathy-2 disease carrying compound heterozygote mutations in NEB gene, Ma, 2020

• CFL2 is an essential mediator for myogenic differentiation in C2C12 myoblasts, Nguyen, 2020

• A novel de novo ACTA1 variant in a patient with nemaline myopathy and mitochondrial Complex I deficiency, Pula, 2020

• An adult nemaline myopathy patient with respiratory and heart failure harboring a novel NEB variant, Ohara, 2020

• Mechanisms of disturbance of the contractile function of slow skeletal muscles induced by myopathic mutations in the tropomyosin in TPM3 gene, Matyushenko, 2020

• Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy, Geraud, 2020

• Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy, Clayton, 2020

• The KLHL40 c.1516A>C is a Chinese-specific founder mutation causing nemaline myopathy 8: Report of six patients with pre- and postnatal phenotypes, Yeung, 2020

• Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy, Ross, 2020

• Muscle weakness in respiratory and peripheral skeletal muscles in a mouse model for nebulin-based nemaline myopathy, Joureau, 2020

• Molecular Mechanisms of Muscle Weakness Associated with E173A in Tpm3.12. Troponin Ca2+ Sensitivity Inhibitor W7 Can Reduce the Damaging Effect of this Mutation, Borovikov, 2020

• Tirggering Typical Neamaline Myopathy With Compound Heterozygous Nebulin Mutations Reveals Myofilament Structural Changes as Pathomechanism, Lindqvist, 2020

• Knocking mouse model of the human CFL2 p.A35T mutation results in a unique splicing defect and severe myopathy phenotype, Rosen, 2020

• Autosomal Dominant Distal Myopathy With Nemaline Rods Due to p.Glu197Asp Mutation in ACTA1, Hernandez-Lain, 2020

• Congenital Myopathy-Related Mutations in Tropomyosin Disrupt Regulatory Function Through Altered Actin Affinity and Tropomodulin Binding, Moraczwska, 2020

• In vivo characterization of skeletal muscle function in nebulin deficient mice, Gimeste,2020

• Mutational and clinical spectrum in a cohort of Chinese patients with hereditary nemaline myopathy, Wang, 2020

• Functional Characterization of the Intact Diaphragm in a Nebulin-Based Nemaline Myopathy (NM) Model-E ects of the Fast Skeletal Muscle Troponin Activator tirasemtiv, Lee, 2020

• A Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French Canadians, Pellerin, 2020

• Nebulin: big protein with big responsibilities, 2020

• Nemaline Myopathies: A Current View, Sewry, 2019

• Nemaline rod myopathy treated with L-tyrosine to relieve symptoms in a neonate, Sahin, 2019

• Establishment of Human Induced Plueripotent stem cell line from a patient with Nemaline myopathy-4 disease carrying mutation in TPM2 gene, Yanyan, 2019

• RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy, Hamanka, 2019

• Chemotherapy with stem cell transplantation is more effective than immunotherapy in sporadic late onset nemaline myopathy with monoclonal gammopathy, Kotchetkov, 2019

• Long-term follow-up and characteristic pathological findings in severe nemaline myopathy due to LMOD3 mutations, Michael, 2019

• Camptocormia as the presenting symptom in sporadic late onset nemaline myopathy: a case report, Turk, 2019

• Omecamtiv mecarbil lowers the contractile deficit in a mouse model of nebulin-based nemaline myopathy, Lindquist, 2019

• Deleting nebulin's C-terminus reveals its importance to sarcomeric structure and function and is sufficient to invoke nemaline myopathy, Li, 2019

• A novel de novo ACTA1 variant in a patient with nemaline myopathy and mitochondrial Complex I deficiency, Pula, 2019

• Sporadic late-onset nemaline myopathy: Clinical spectrum, survival, and treatment outcomes, Naddaf, 2019

• Nemaline†myopathies∫†a†current†view, Sewry, 2019

• Establishment of a human induced pluripotent stem cell line (SDQLCHi004-A) from a patient with nemaline myopathy-4 disease carrying heterozygous mutation in TPM2 gene, Ma, 2019

• Evidence of mild founder LMOD3 mutations causing nemaline myopathy 10 in Germany and Austria, Schatz, 2019

• Sarcomere Dysfunction in Nemaline Myopathy, de Winter, 2019

• Cullin3–dependent deregulation of ACTN1 represents a pathogenic mechanism in nemaline myopathy, Blondelle, 2019

• Testing of therapies in a novel nebulin nemaline myopathy model demonstrate a lack of efficacy, Sztal, 2019