Myofibrillar myopathies: new developments
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[1] M. Tegenthoff,et al. Differential proteomic analysis of abnormal intramyoplasmic aggregates in desminopathy. , 2013, Journal of proteomics.
[2] J. Schessl,et al. Proteomic characterization of aggregate components in an intrafamilial variable FHL1-associated myopathy , 2013, Neuromuscular Disorders.
[3] F. Chapon,et al. Hereditary myopathy with early respiratory failure: occurrence in various populations , 2013, Journal of Neurology, Neurosurgery & Psychiatry.
[4] Robert W. Taylor,et al. Recessive desmin-null muscular dystrophy with central nuclei and mitochondrial abnormalities , 2013, Acta Neuropathologica.
[5] C. Toro,et al. Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins , 2013, BMC Neurology.
[6] K. Bushby,et al. Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure , 2013, Journal of Neurology, Neurosurgery & Psychiatry.
[7] K. Nakayama,et al. Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure , 2013, Journal of Human Genetics.
[8] G. Butler-Browne,et al. Viral-mediated expression of desmin mutants to create mouse models of myofibrillar myopathy , 2013, Skeletal Muscle.
[9] U. Dillmann,et al. Novel FHL1 mutation in a family with reducing body myopathy , 2013, Muscle & nerve.
[10] J. Schessl,et al. Patient‐specific protein aggregates in myofibrillar myopathies: Laser microdissection and differential proteomics for identification of plaque components , 2012, Proteomics.
[11] S. Strelkov,et al. Desminopathies: pathology and mechanisms , 2012, Acta Neuropathologica.
[12] Christian Stephan,et al. A Combined Laser Microdissection and Mass Spectrometry Approach Reveals New Disease Relevant Proteins Accumulating in Aggregates of Filaminopathy Patients* , 2012, Molecular & Cellular Proteomics.
[13] R. Bryson-Richardson,et al. Characterization and investigation of zebrafish models of filamin-related myofibrillar myopathy. , 2012, Human molecular genetics.
[14] I. Ferrer,et al. Pathophysiology of protein aggregation and extended phenotyping in filaminopathy. , 2012, Brain : a journal of neurology.
[15] L. Waddell,et al. Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late‐onset cerebellar ataxia , 2012, Muscle & nerve.
[16] Eloisa Arbustini,et al. Evidence for FHL1 as a novel disease gene for isolated hypertrophic cardiomyopathy. , 2012, Human molecular genetics.
[17] B. Brådvik,et al. Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin. , 2012, Brain : a journal of neurology.
[18] M. Santibanez-Koref,et al. Titin mutation segregates with hereditary myopathy with early respiratory failure. , 2012, Brain : a journal of neurology.
[19] F. Muntoni,et al. BAG3 mutations: another cause of giant axonal neuropathy , 2012, Journal of the peripheral nervous system : JPNS.
[20] W. Kress,et al. ZASPopathy with childhood-onset distal myopathy , 2012, Journal of Neurology.
[21] I. Nonaka,et al. In vivo characterization of mutant myotilins. , 2012, The American journal of pathology.
[22] Hencher Han-Chih Lee,et al. BAG3‐related myofibrillar myopathy in a Chinese family , 2012, Clinical genetics.
[23] B. Fabry,et al. Biomechanical characterization of a desminopathy in primary human myoblasts. , 2012, Biochemical and biophysical research communications.
[24] D. Jenne,et al. Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation , 2012, European Journal of Human Genetics.
[25] P. Laforêt,et al. High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study , 2012, Neuromuscular Disorders.
[26] H. Sasaki,et al. Clinical, pathological, and genetic mutation analysis of sporadic inclusion body myositis in Japanese people , 2012, Journal of Neurology.
[27] L. Féasson,et al. A novel CRYAB mutation resulting in multisystemic disease , 2012, Neuromuscular Disorders.
[28] M. P. van den Berg,et al. Recurrent and founder mutations in the Netherlands: the cardiac phenotype of DES founder mutations p.S13F and p.N342D , 2012, Netherlands Heart Journal.
[29] H. Steen,et al. Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics , 2012, Annals of neurology.
[30] H. Goebel,et al. Protein aggregation in congenital myopathies. , 2011, Seminars in pediatric neurology.
[31] J. Schessl,et al. Reducing body myopathy and other FHL1-related muscular disorders. , 2011, Seminars in pediatric neurology.
[32] M. Bromberg,et al. Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy , 2011, Neurology.
[33] J. Armstrong,et al. Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy , 2011, Neuromuscular Disorders.
[34] M. Baumann,et al. Analysis of myotilin turnover provides mechanistic insight into the role of myotilinopathy-causing mutations. , 2011, The Biochemical journal.
[35] M. D. Del Bigio,et al. Infantile muscular dystrophy in Canadian aboriginals is an αB‐crystallinopathy , 2011, Annals of neurology.
[36] C. Mitchell,et al. Four and a half LIM protein 1 gene mutations cause four distinct human myopathies: A comprehensive review of the clinical, histological and pathological features , 2011, Neuromuscular Disorders.
[37] D. Selcen. Myofibrillar myopathies , 2011, Neuromuscular Disorders.
[38] Nathan Ravi,et al. A Knock-In Mouse Model for the R120G Mutation of αB-Crystallin Recapitulates Human Hereditary Myopathy and Cataracts , 2011, PloS one.
[39] K. Bushby,et al. Infantile onset myofibrillar myopathy due to recessive CRYAB mutations , 2011, Neuromuscular Disorders.
[40] M. Vorgerd,et al. De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy. , 2010, Human molecular genetics.
[41] E. Bertini,et al. Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation , 2010, Neuromuscular Disorders.
[42] J. Schessl,et al. The p.G154S mutation of the alpha-B crystallin gene (CRYAB) causes late-onset distal myopathy , 2010, Neuromuscular Disorders.
[43] S. Heath,et al. Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy. , 2009, American journal of human genetics.
[44] B. Schoser,et al. Myofibrillar Myopathies: A Clinical and Myopathological Guide , 2009, Brain pathology.
[45] H. Goebel. Protein aggregate myopathies. Introduction. , 2009, Brain pathology.
[46] I. Nonaka,et al. Defective Myotilin Homodimerization Caused by a Novel Mutation in MYOT Exon 9 in the First Japanese Limb Girdle Muscular Dystrophy 1A Patient , 2009, Journal of neuropathology and experimental neurology.
[47] F. Muntoni,et al. Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1. , 2009, Brain : a journal of neurology.
[48] F. Muntoni,et al. Mutation in BAG3 causes severe dominant childhood muscular dystrophy , 2008, Annals of neurology.
[49] I. Nonaka,et al. Rigid spine syndrome caused by a novel mutation in four-and-a-half LIM domain 1 gene (FHL1) , 2008, Neuromuscular Disorders.
[50] C. Heyer,et al. Distinct muscle imaging patterns in myofibrillar myopathies , 2008, Neurology.
[51] I. Ferrer,et al. Molecular pathology of myofibrillar myopathies , 2008, Expert Reviews in Molecular Medicine.
[52] K. Claeys,et al. Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene , 2008, Neuromuscular Disorders.
[53] J. Golden,et al. Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy. , 2008, The Journal of clinical investigation.
[54] A. Noor,et al. An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1. , 2008, American journal of human genetics.
[55] K. Wilhelmsen,et al. X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1. , 2008, American journal of human genetics.
[56] R. Griggs,et al. Zaspopathy in a large classic late-onset distal myopathy family. , 2007, Brain : a journal of neurology.
[57] I. Ferrer,et al. Myotilinopathy: refining the clinical and myopathological phenotype. , 2005, Brain : a journal of neurology.
[58] Hanns Lochmüller,et al. A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy. , 2005, American journal of human genetics.
[59] H. Goebel,et al. Protein aggregate myopathies. , 2005, Neurology India.
[60] Thomas Sejersen,et al. The Kinase Domain of Titin Controls Muscle Gene Expression and Protein Turnover , 2005, Science.
[61] Andrew G Engel,et al. Mutations in ZASP define a novel form of muscular dystrophy in humans , 2005, Annals of neurology.
[62] James E. Morrow. The University of Washington , 2004 .
[63] Isidro Ferrer,et al. Proteasomal Expression, Induction of Immunoproteasome Subunits, and Local MHC Class I Presentation in Myofibrillar Myopathy and Inclusion Body Myositis , 2004, Journal of neuropathology and experimental neurology.
[64] Andrew G Engel,et al. Mutations in myotilin cause myofibrillar myopathy , 2004, Neurology.
[65] A. Engel,et al. Myofibrillar myopathy caused by novel dominant negative αB‐crystallin mutations , 2003 .
[66] H. Goebel,et al. Reducing body myopathy with cytoplasmic bodies and rigid spine syndrome: a mixed congenital myopathy. , 2001, Neuropediatrics.
[67] J. Gilbert,et al. Myotilin is mutated in limb girdle muscular dystrophy 1A. , 2000, Human molecular genetics.
[68] D. Figarella-Branger,et al. Adult onset reducing body myopathy , 1999, Neuromuscular Disorders.
[69] A. Engel. Myofibrillar myopathy , 1999, Annals of neurology.
[70] J. Mate,et al. A dysfunctional desmin mutation in a patient with severe generalized myopathy. , 1998, Proceedings of the National Academy of Sciences of the United States of America.
[71] M. Prevost,et al. A missense mutation in the αB-crystallin chaperone gene causes a desmin-related myopathy , 1998, Nature Genetics.
[72] J. Nagle,et al. Missense mutations in desmin associated with familial cardiac and skeletal myopathy , 1998, Nature Genetics.
[73] A. Engel,et al. Myofibrillar Myopathy with Abnormal Foci of Desmin Positivity.: I. Light and Electron Microscopy Analysis of 10 Cases , 1996, Journal of neuropathology and experimental neurology.
[74] L. Edström,et al. Myopathy with respiratory failure and typical myofibrillar lesions , 1990, Journal of the Neurological Sciences.
[75] P. Vernant,et al. [A new familial muscular disorder demonstrated by the intra-sarcoplasmic accumulation of a granulo-filamentous material which is dense on electron microscopy (author's transl)]. , 1978, Revue neurologique.
[76] M. Brooke,et al. Reducing body myopathy , 1972, Neurology.
[77] I. Nonaka,et al. Filamin C plays an essential role in the maintenance of the structural integrity of cardiac and skeletal muscles, revealed by the medaka mutant zacro. , 2012, Developmental biology.
[78] M. Vorgerd,et al. Filamin C-related myopathies: pathology and mechanisms , 2012, Acta Neuropathologica.
[79] H. Goebel,et al. Intermediate filament diseases: desminopathy. , 2008, Advances in experimental medicine and biology.
[80] A. Engel,et al. Myofibrillar myopathy caused by novel dominant negative alpha B-crystallin mutations. , 2003, Annals of neurology.
[81] C. Blomström-Lundqvist,et al. Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q. , 1999, Annals of neurology.