Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.
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E. Bertini | F. Muntoni | R. Bryson-Richardson | C. Brownstein | V. Lehtokari | G. Ravenscroft | E. Todd | L. Swanson | A. Beggs | Y. Hayashi | N. Romero | N. Laing | I. Nishino | C. Wallgren‐Pettersson | N. Clarke | N. Matsumoto | M. Shiina | K. Ogata | C. Kiraly-Borri | K. North | A. Manzur | N. Miyake | Y. Tsurusaki | S. Miyatake | E. Koshimizu | H. Osaka | H. Saitsu | Y. Nevo | H. Topaloglu | G. Kale | A. Charles | C. Sewry | M. Yamashita | H. Doi | B. Talim | R. Allcock | K. Yau | M. Lammens | D. Orhan | H. Amthor | Y. Sakamoto | R. Vaz | V. Fabian | S. Yamashita | I. E. Silberg | S. Imamura | S. Monnot | P. Sivadorai | G. Haliloglu | M. Davis | O. Ceyhan | T. Ohya | N. Kresoje | Pauliina Vornanen | E. Willichowski | H. Topaloğlu | Shintaro Imamura
[1] K. Friend,et al. Whole exome sequencing in foetal akinesia expands the genotype–phenotype spectrum of GBE1 glycogen storage disease mutations , 2013, Neuromuscular Disorders.
[3] Kenny Q. Ye,et al. An integrated map of genetic variation from 1,092 human genomes , 2012, Nature.
[4] R. Bryson-Richardson,et al. Characterization and investigation of zebrafish models of filamin-related myofibrillar myopathy. , 2012, Human molecular genetics.
[5] W. Swietnicki,et al. KBTBD13 interacts with Cullin 3 to form a functional ubiquitin ligase. , 2012, Biochemical and biophysical research communications.
[6] N. Laing,et al. Clinical utility gene card for: Nemaline myopathy , 2012, European Journal of Human Genetics.
[7] J. Dowling,et al. Congenital Myopathies: An Update , 2012, Current Neurology and Neuroscience Reports.
[8] G. Ravenscroft,et al. Fetal akinesia: review of the genetics of the neuromuscular causes , 2011, Journal of Medical Genetics.
[9] H. Morita,et al. Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation. , 2011, American journal of human genetics.
[10] François Stricher,et al. A graphical interface for the FoldX forcefield , 2011, Bioinform..
[11] K. Davies,et al. O.24 Mouse models of dominant ACTA1 disease recapitulate human disease and provide insight into therapies , 2011, Neuromuscular Disorders.
[12] F. Mastaglia,et al. Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. , 2010, American journal of human genetics.
[13] H. Hakonarson,et al. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data , 2010, Nucleic acids research.
[14] C. Bönnemann,et al. Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy , 2010, Brain : a journal of neurology.
[15] K. Davies,et al. Rescue of skeletal muscle α-actin–null mice by cardiac (fetal) α-actin , 2009, The Journal of cell biology.
[16] A. Philippi,et al. Robust physical methods that enrich genomic regions identical by descent for linkage studies: confirmation of a locus for osteogenesis imperfecta , 2009, BMC Genetics.
[17] S. Clément,et al. Dissociated flexor digitorum brevis myofiber culture system--a more mature muscle culture system. , 2007, Cell motility and the cytoskeleton.
[18] Olga Mayans,et al. Molecular determinants for the recruitment of the ubiquitin‐ligase MuRF‐1 onto M‐line titin , 2007, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.
[19] A. Reverter,et al. Gene expression profiling of bovine skeletal muscle in response to and during recovery from chronic and severe undernutrition. , 2006, Journal of animal science.
[20] K. Pelin,et al. Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy , 2006, Human mutation.
[21] J. Harrow,et al. GENCODE: producing a reference annotation for ENCODE , 2006, Genome Biology.
[22] François Stricher,et al. The FoldX web server: an online force field , 2005, Nucleic Acids Res..
[23] Y. Xiong,et al. Targeting of protein ubiquitination by BTB–Cullin 3–Roc1 ubiquitin ligases , 2003, Nature Cell Biology.
[24] Soren Prag,et al. Molecular phylogeny of the kelch-repeat superfamily reveals an expansion of BTB/kelch proteins in animals , 2003, BMC Bioinformatics.
[25] S. Higashijima,et al. Migration of zebrafish spinal motor nerves into the periphery requires multiple myotome-derived cues. , 2002, Developmental biology.
[26] L. Serrano,et al. Predicting changes in the stability of proteins and protein complexes: a study of more than 1000 mutations. , 2002, Journal of molecular biology.
[27] M. Ridanpää,et al. Mutations in the β-tropomyosin (TPM2) gene – a rare cause of nemaline myopathy , 2002, Neuromuscular Disorders.
[28] H. Pomerance,et al. CLINICO PATHOLOGY CONFERENCE: INFANT WITH HIGH ARCHED PALATE, BELL-SHAPED CHEST, JOINT CONTRACTURES, AND INTRAUTERINE FRACTURES , 2002 .
[29] A A Schäffer,et al. A novel nemaline myopathy in the Amish caused by a mutation in troponin T1. , 2000, American journal of human genetics.
[30] K. Pelin,et al. Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy , 1999, Nature Genetics.
[31] R. Dom,et al. Fetal akinesia sequence caused by nemaline myopathy. , 1997, Neuropediatrics.
[32] T. Ohta,et al. The age of a neutral mutant persisting in a finite population. , 1973, Genetics.
[33] P. Dormitzer,et al. Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2. , 2007, American journal of human genetics.
[34] G. Abecasis,et al. Merlin—rapid analysis of dense genetic maps using sparse gene flow trees , 2002, Nature Genetics.
[35] M. Ridanpää,et al. Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy. , 2002, Neuromuscular disorders : NMD.
[36] N. Laing,et al. A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy. , 1995, Nature genetics.