相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant
Sarah A. Sandaradura et al.
HUMAN MUTATION (2018)
Repeatability and reliability of muscle relaxation properties induced by motor cortical stimulation
J. P. Molenaar et al.
JOURNAL OF APPLIED PHYSIOLOGY (2018)
Nebulin stiffens the thin filament and augments cross-bridge interaction in skeletal muscle
Balazs Kiss et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2018)
Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy
Satoko Miyatake et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2017)
Mutation-Specific Effects on Thin Filament Length in Thin Filament Myopathy
Josine M. de Winter et al.
ANNALS OF NEUROLOGY (2016)
Finally, We Can Relax: A New Generation of Muscle Models that Incorporate Sarcomere Compliance
Michael Regnier et al.
BIOPHYSICAL JOURNAL (2016)
Compliance Accelerates Relaxation in Muscle by Allowing Myosin Heads to Move Relative to Actin
Kenneth S. Campbell
BIOPHYSICAL JOURNAL (2016)
Congenital myopathies Natural history of a large pediatric cohort
Irene Colombo et al.
NEUROLOGY (2015)
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy
Michaele Yuen et al.
JOURNAL OF CLINICAL INVESTIGATION (2014)
Kelch proteins: emerging roles in skeletal muscle development and diseases
Vandana A. Gupta et al.
SKELETAL MUSCLE (2014)
Effects of aging and sex on voluntary activation and peak relaxation rate of human elbow flexors studied with motor cortical stimulation
Joery P. Molenaar et al.
AGE (2013)
Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy
Gianina Ravenscroft et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy
Vandana A. Gupta et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy
Coen A. C. Ottenheijm et al.
BRAIN (2013)
Testing the excitability of human motoneurons
Chris J. McNeil et al.
FRONTIERS IN HUMAN NEUROSCIENCE (2013)
KBTBD13 interacts with Cullin 3 to form a functional ubiquitin ligase
Nyamkhishig Sambuughin et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2012)
Positive muscle phenomena-diagnosis, pathogenesis and associated disorders
Hans G. Kortman et al.
NATURE REVIEWS NEUROLOGY (2012)
Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores
Nyamkhishig Sambuughin et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Structure and Dynamics of the Actin Filament
Jim Pfaendtner et al.
JOURNAL OF MOLECULAR BIOLOGY (2010)
Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency
Coen A. C. Ottenheijm et al.
HUMAN MOLECULAR GENETICS (2009)
Recovery from supraspinal fatigue is slowed in old adults after fatiguing maximal isometric contractions
Sandra K. Hunter et al.
JOURNAL OF APPLIED PHYSIOLOGY (2008)
Use of motor cortex stimulation to measure simultaneously the changes in dynamic muscle properties and voluntary activation in human muscles
Gabrielle Todd et al.
JOURNAL OF APPLIED PHYSIOLOGY (2007)
Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2
Pankaj B. Agrawal et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Supraspinal fatigue does not explain the sex difference in muscle fatigue of maximal contractions
Sandra K. Hunter et al.
JOURNAL OF APPLIED PHYSIOLOGY (2006)
Muscle slowness in a family with nemaline myopathy
Inge M. P. Pauw-Gommans et al.
NEUROMUSCULAR DISORDERS (2006)
Sarcomeric determinants of striated muscle relaxation kinetics
C Poggesi et al.
PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY (2005)
A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions
IMP Gommans et al.
BRAIN (2003)
Mutations in the β-tropomyosin (TPM2) gene -: a rare cause of nemaline myopathy
K Donner et al.
NEUROMUSCULAR DISORDERS (2002)
A new phenotype of autosomal dominant nemaline myopathy
IMP Gommans et al.
NEUROMUSCULAR DISORDERS (2002)
Nemaline myopathy caused by mutations in the muscle α-skeletal-actin gene
B Ilkovski et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
A novel nemaline myopathy in the Amish caused by a mutation in troponin T1
JJ Johnston et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2000)
分享论文
