Nemaline Myopathy
 

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

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

• 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

• Ryanodine receptor type 3 (RYR3) as a novel gene associated with a myopathy with nemaline bodies, Nilipour, 2018

• Long term history of a congenital corerod myopathy with compound heterozygous mutations in the Nebulin gene, Wunderlich, 2018

• Clinical and genetic diversity of nemaline myopathy from a single neuromuscular center in Korea, Lee, 2018

• Myostatin inhibition using mRK35 produces skeletal muscle growth and tubular aggregate formation in wild type and TgACTA1D286G nemaline myopathy mice, Tinklenberg, 2018

• L-tyrosine supplementation does not ameliorate skeletal muscle dysfunction in zebrafish and mouse models of dominant skeletal muscle, Messineo, 2018

• The reason for the low Ca+2 -sensitivity of thin filaments associated with the Glu41Lys mutation in the TPM2 gene is "freezing" of tropomyosin near the outer domain of actin and inhibition of actin monomer switching off during the ATPase cycle, Avrova, 2018

• Long term history of a congenital core-rod myopathy with compound heterozygous mutations in the Nebulin gene, Wunderlich, 2018

• Ltyrosine supplementation does not ameliorate skeletal muscle dysfunction in zebrafish and mouse models of dominant skeletal muscle αactin nemaline myopathy, Messineo, 2018

• Testing of therapies in a novel nebulin nemaline myopathy model demonstrate a lack of efficacy, Sztal, 2018

• LMOD3-Associated Nemaline Myopathy: Prenatal Ultrasonographic, Pathologic, and Molecular Findings, Berkenstadt, 2018

• Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1-related nemaline myopathy (NEM3), Joureau, 2018

• Expanding the histopathological spectrum of CFL2-related myopathies, Fattori, 2018